Split (1)

train · 929 rows

id stringlengths 2 20	ch_id stringlengths 2 20	keywords listlengths 0 162	title stringlengths 0 130	authors stringlengths 0 245	abstract stringlengths 0 4.05k	content stringlengths 0 197k	references listlengths 0 142	created_date stringlengths 0 10	updated_date stringlengths 0 10	revised_date stringlengths 0 10	journal stringclasses 1 value	source_url stringclasses 1 value	publication_types listlengths 2 2
lpi	lpi	[ "Cationic Aminoaciduria", "Y+L amino acid transporter 1", "SLC7A7", "Lysinuric Protein Intolerance" ]	Lysinuric Protein Intolerance	Virginia Nunes, Harri Niinikoski	Summary Lysinuric protein intolerance (LPI) typically presents after an infant is weaned from breast milk or formula; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatospleno...	## Diagnosis Lysinuric protein intolerance (LPI) Recurrent vomiting with episodes of diarrhea Episodes of stupor and coma after a protein-rich meal Poor feeding Aversion to protein-rich food Failure to thrive Enlargement of the liver and spleen Muscular hypotonia Poor growth Early (often severe) osteoporosi...	[ "A Barilli, BM Rotoli, R Visigalli, O Bussolati, GC Gazzola, Z Kadija, G Rodi, F Mariani, ML Ruzza, M Luisetti, V Dall'Asta. In lysinuric protein intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.. Orphanet J Rare Dis 2010;5:32", "G Borsani, MT Bassi, MP Sperandeo,...	21/12/2006	12/4/2018	13/10/2011	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
lpin2-majeed	lpin2-majeed	[ "Phosphatidate phosphatase LPIN2", "LPIN2", "LPIN2-Related Majeed Syndrome" ]		Dhanya Lakshmi Narayanan, Kishore Sai Gogineni, Vaishnavi Ashok Badiger	Summary Individuals with The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Recurrent bone pain near the joints, often of the long bones of the lower extremities Joint swelling and subsequent joint contracture Chronic recurrent multifocal osteomyelitis that is sterile Neutrophilic dermatosis, which may present as painful erythem...	[ "F Bhuyan, AA de Jesus, J Mitchell, E Leikina, R VanTries, R Herzog, KB Onel, A Oler, GA Montealegre Sanchez, KA Johnson, L Bichell, B Marrero, LF De Castro, Y Huang, KR Calvo, MT Collins, S Ganesan, LV Chernomordik, PJ Ferguson, R Goldbach-Mansky. Novel Majeed syndrome-causing LPIN2 mutations link bone inflammatio...	2/3/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
lpl	lpl	[ "Familial LPL Deficiency", "Type I Hyperlipoproteinemia", "Familial Chylomicronemia Syndrome", "Familial LPL Deficiency", "Lipoprotein lipase", "LPL", "Familial Lipoprotein Lipase Deficiency" ]	Familial Lipoprotein Lipase Deficiency	John R Burnett, Amanda J Hooper, Robert A Hegele	Summary Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing...	## Diagnosis Familial lipoprotein lipase (LPL) deficiency Recurrent acute pancreatitis Eruptive cutaneous xanthomata Hepatosplenomegaly Impaired clearance of chylomicrons from plasma causing the plasma to have a milky (lactescent or lipemic) appearance Plasma triglyceride concentrations greater than 2000 mg/d...	[ "K Al-Shali, J Wang, F Fellows, MW Huff, BM Wolfe, RA Hegele. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.. Clin Biochem 2002;35:125-30", "AP Beigneux, BS Davies, P Gin, MM Weinstein, E Farber, X Qiao, F Peale, S Bunting, RL Wa...	12/10/1999	22/6/2017	1/10/2007	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
lrrk2	lrrk2	[ "Leucine-rich repeat serine/threonine-protein kinase 2", "LRRK2", "LRRK2 Parkinson Disease" ]		Rachel Saunders-Pullman, Deborah Raymond, Sonya Elango	Summary * Idiopathic PD refers to the presence of signs and symptoms of PD for which the etiology is currently unknown and in which there is no known family history of PD. The diagnosis of	## Diagnosis While there are subtle group differences between Note: "Idiopathic Parkinson disease" and "sporadic Parkinson disease" are terms used in the Parkinson disease medical literature to describe Parkinson disease of unknown cause diagnosed in an individual with a negative family history. Future advances in th...	[]	2/11/2006	24/10/2019	6/7/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ltbp4-cutis-laxa	ltbp4-cutis-laxa	[ "Autosomal Recessive Cutis Laxa Type 1C (ARCL1C)", "Urban-Rifkin-Davis Syndrome (URDS)", "Autosomal Recessive Cutis Laxa Type 1C (ARCL1C)", "Urban-Rifkin-Davis Syndrome (URDS)", "Latent-transforming growth factor beta-binding protein 4", "LTBP4", "LTBP4-Related Cutis Laxa" ]		Bert L Callewaert, Zsolt Urban	Summary The diagnosis of	## Diagnosis No formal clinical diagnostic criteria have been established for Loose redundant skin folds (cutis laxa) Pulmonary emphysema Gastrointestinal and/or urinary tract diverticula The diagnosis of Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely patho...	[ "CS Adamo, A Beyens, A Schiavinato, DR Keene, SF Tufa, M Mörgelin, J Brinckmann, T Sasaki, A Niehoff, M Dreiner, L Pottie, L Muiño-Mosquera, EY Gulec, A Gezdirici, P Braghetta, P Bonaldo, R Wagener, M Paulsson, H Bornaun, R De Rycke, M De Bruyne, F Baeke, WP Devine, B Gangaram, A Tam, M Balasubramanian, S Ellard, S...	11/2/2016	22/7/2021	23/2/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
lwd	lwd	[ "Leri-Weill Dyschondrosteosis (LWD)", "SHOX-Deficient Short Stature", "Short stature homeobox protein", "SHOX", "SHOX Deficiency Disorders" ]	SHOX Deficiency Disorders	Gerhard Binder, Gudrun A Rappold	Summary The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the The diagnosis of SHOX deficiency is established in a proband with either a pathogenic SHOX deficiency disorders are inherited in a pseudoautosomal dominant manner. In pseudoautosomal dominant inheritance, homologous genes ...	Leri-Weill dyschondrosteosis (LWD) SHOX-deficient short stature For other genetic causes of these phenotypes, see • Leri-Weill dyschondrosteosis (LWD) • SHOX-deficient short stature ## Diagnosis The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the This shortening of the forea...	[]	12/12/2005	28/6/2018	23/5/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
m-hfm-ov	m-hfm-ov	[ "Goldenhar Syndrome", "First and Second Branchial Arch Syndrome", "Otomandibular Dysostosis", "Oculo-auriculo-vertebral Spectrum", "Facio-auriculo-vertebral Syndrome", "Hemifacial Microsomia", "Lateral Facial Dysplasia", "Craniofacial Microsomia", "Overview" ]	Craniofacial Microsomia Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Carrie L Heike, Daniela V Luquetti, Anne V Hing	Summary Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can i...	Hemifacial microsomia Oculo-auriculo-vertebral spectrum Goldenhar syndrome First and second branchial arch syndrome Otomandibular dysostosis Facio-auriculo-vertebral syndrome Lateral facial dysplasia • Hemifacial microsomia • Oculo-auriculo-vertebral spectrum • Goldenhar syndrome • First and second branchial ...	[ "S Ala-Mello, L Siggberg, S Knuutila, H von Koskull, M Taskinen, M Peippo. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.. Am J Med Genet A. 2008;146A:2490-4", "F Alasti, A Sadeghi, MH Sanati, M Farhadi, E Stollar, T Somers, G Van Camp. A mutation in...	19/3/2009	9/10/2014		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
m-sulfatase-def	m-sulfatase-def	[ "Formylglycine-generating enzyme", "SUMF1", "Multiple Sulfatase Deficiency" ]	Multiple Sulfatase Deficiency	Lars Schlotawa, Laura Adang, Mauricio De Castro, Rebecca Ahrens-Nicklas	Summary Initial symptoms of multiple sulfatase deficiency (MSD) can develop from infancy through early childhood, and presentation is widely variable. Some individuals display the multisystemic features characteristic of mucopolysaccharidosis disorders (e.g., developmental regression, organomegaly, skeletal deformities...	## Diagnosis Formal clinical diagnostic criteria for multiple sulfatase deficiency have not been established. Multiple sulfatase deficiency Developmental delay with subsequent neurologic regression and psychomotor retardation Macrocephaly with or without hydrocephalus Epilepsy Poor growth with a progressive dec...	[ "LA Adang, O Sherbini, L Ball, M Bloom, A Darbari, H Amartino, D DiVito, F Eichler, M Escolar, SH Evans, A Fatemi, J Fraser, L Hollowell, N Jaffe, C Joseph, M Karpinski, S Keller, R Maddock, E Mancilla, B McClary, J Mertz, K Morgart, T Langan, R Leventer, S Parikh, A Pizzino, E Prange, DL Renaud, W Rizzo, J Shapiro...	21/3/2019			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
madd	madd	[ "Electron Transfer Flavoprotein Dehydrogenase Deficiency", "Glutaric Acidemia II", "Glutaric Aciduria II", "MADD", "MADD", "Glutaric Acidemia II", "Glutaric Aciduria II", "Electron Transfer Flavoprotein Dehydrogenase Deficiency", "Electron transfer flavoprotein subunit alpha, mitochondrial", "Elec...	Multiple Acyl-CoA Dehydrogenase Deficiency	Pankaj Prasun	Summary Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become sym...	## Diagnosis Formal clinical diagnostic criteria for multiple acyl-CoA dehydrogenase deficiency (MADD) have not been established. NBS for MADD is primarily based on quantification of the analytes C4, C5, and C8 with or without other higher acylcarnitine species on dried blood spots. Multiple acylcarnitine species (C...	[ "A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, A Alothaim, M Albalwi, L Al Subaie, S Alturki, W Al-Twaijri, M Alrifai, A Al-Rumayya, S Alameer, E Faqeeh, A Alasmari, A Alsamman, S Tashkandia, A Alghamdi, A Alhashem, B Tabarki, S AlShahwan, K Hundallah, S Wali, H Al-Hebbi, A Babiker, S Mohame...	18/6/2020			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
majeed	majeed	[ "Phosphatidate phosphatase LPIN2", "LPIN2", "Majeed Syndrome" ]	Majeed Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Hatem El-Shanti, Polly Ferguson	Summary Majeed syndrome is characterized by: Chronic recurrent multifocal osteomyelitis (CRMO) that is of early onset with a lifelong course; and Congenital dyserythropoietic anemia (CDA) that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion dependent. Some i...	## Diagnosis The diagnosis of Majeed syndrome is based on the following findings [ Skeletal radiographs show irregular osteolytic (radiolucent) lesions with surrounding sclerosis, usually in the metaphyses of long bones. Hyperostosis may be present in clavicular lesions. Tc-99 or Ga-67 skeletal scan shows increased ...	[ "I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, A van Royen-Kerkhoff, R Laxer, U Tedgård, E Cowen, T-H Pham, M Booty, JD Estes, NG Sandler, N Plass, DL Stone, ML Turner, S Hill, JA Butman, R Schneider, P Babyn, HI El-Shanti, E Pope, K Barron, X Bing, A Laurence, C-CR Lee, D Chapelle, GI Clarke, K Oh...	23/9/2008	14/3/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
maps	maps	[ "Multiple Colorectal Adenomas, Autosomal Recessive", "MUTYH-Associated Polyposis (MAP)", "Multiple Colorectal Adenomas, Autosomal Recessive", "MUTYH-Associated Polyposis (MAP)", "Adenine DNA glycosylase", "MUTYH", "MUTYH Polyposis" ]		Maartje Nielsen, Elena Infante, Randall Brand	Summary The diagnosis is established in a proband by identification of biallelic germline pathogenic variants in Individuals with a heterozygous germline MAP is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a carri...	## Diagnosis A personal cumulative lifetime history of ten or more colorectal adenomas in an individual age ≤60 years A personal cumulative lifetime history of 20 or more colorectal adenomas in an individual of any age A personal cumulative lifetime history of any combination of 20 or more colorectal adenomas, hyp...	[]	4/10/2012	10/10/2019	27/5/2021	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
marfan	marfan	[ "Fibrillin-1", "FBN1", "FBN1-Related Marfan Syndrome" ]		Harry Dietz	Summary The diagnosis of Marfan syndrome is established in a proband (by definition a person without a known family history of Marfan syndrome) who has an Aortic root enlargement (z score ≥2.0) Ectopia lentis By molecular genetic testing if the In those with a rigorously defined family history of Marfan syndrome, by th...	## Diagnosis Consensus clinical diagnostic criteria for Marfan syndrome Aortic root enlargement (z score ≥2.0). Note: Aortic size must be standardized to age and body size for accurate interpretation. A z score ≥2.0 indicates a value at or above the 95th percentile, while a z score ≥3.0 indicates a value at or abo...	[]	18/4/2001	17/2/2022	2/2/2017	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mbd5-dis	mbd5-dis	[ "2q23.1 Microdeletion Syndrome", "Pseudo-Angelman Syndrome", "2q23.1 Microdeletion Syndrome", "Methyl-CpG-binding domain protein 5", "MBD5", "MBD5 Haploinsufficiency" ]		Sureni V Mullegama, Roberto Mendoza-Londono, Sarah H Elsea	Summary The diagnosis of	## Diagnosis Motor delays Severe speech and language impairment Intellectual disability (ID), usually moderate to severe Seizures Sleep disturbance Hypotonia Feeding difficulties, often related to hypotonia Short attention span Autistic-like behaviors that include gaze avoidance, inattention, and repetitiv...	[]	27/10/2016	28/4/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mbtps1-semd	mbtps1-semd	[ "Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)", "Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)", "Membrane-bound transcription factor site-1 protease", "MBTPS1", "MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes" ]		Hua Wang, Andrea Wierenga, Sandeep Prabhu, Klaas Wierenga	Summary The diagnosis of	## Diagnosis Postnatal-onset short stature Kyphosis and/or scoliosis Inguinal hernia Protruding abdomen Cataracts (often congenital) Developmental delay (gross motor and/or speech) Dysmorphic facial features, including prominent forehead, prominent cheekbones, retromicrognathia, wide mouth, and large, prominent ...	[]	30/11/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mc-def	mc-def	[ "Adenylyltransferase and sulfurtransferase MOCS3", "Gephyrin", "Molybdenum cofactor biosynthesis protein 1", "Molybdopterin synthase catalytic subunit", "GPHN", "MOCS1", "MOCS2", "MOCS3", "Molybdenum Cofactor Deficiency" ]	Molybdenum Cofactor Deficiency	Albert Misko, Karishma Mahtani, Jessica Abbott, Guenter Schwarz, Paldeep Atwal	Summary Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal period and early infancy (termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). Individ...	## Diagnosis Formal clinical diagnostic criteria for molybdenum cofactor deficiency have not been established. Molybdenum cofactor deficiency (MoCD) typically manifests in the neonatal period and Acute encephalopathy Intractable seizures Poor feeding Hyperekplexia (excessive startle reaction to loud noises, tou...	[]	2/12/2021		2/2/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mcad	mcad	[ "MCAD Deficiency", "MCAD Deficiency", "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial", "ACADM", "Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" ]	Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Irene J Chang, Christina Lam, Jerry Vockley	Summary Individuals with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically appear normal at birth, and many are diagnosed through newborn screening programs. Symptomatic individuals experience hypoketotic hypoglycemia in response to either prolonged fasting (e.g., weaning the infant from nighttime ...	## Diagnosis Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common inherited fatty acid beta-oxidation disorder; it leaves affected individuals unable to break down medium-chain fats for energy. Fatty acid beta-oxidation produces reducing equivalents and tricarboxylic acid cycle intermediates...	[]	20/4/2000	26/9/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mccune-albright	mccune-albright	[ "FD/MAS", "FD/MAS", "Guanine nucleotide-binding protein G(s) subunit alpha isoforms short", "GNAS", "Fibrous Dysplasia / McCune-Albright Syndrome" ]	Fibrous Dysplasia / McCune-Albright Syndrome	Vivian Szymczuk, Pablo Florenzano, Luis F de Castro, Michael T Collins, Alison M Boyce	Summary Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in Hyperpigmented skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involv...	## Diagnosis Fibrous dysplasia / McCune-Albright syndrome (FD/MAS) is usually diagnosed based on characteristic clinical, radiographic, and laboratory manifestations, although formal diagnostic criteria have not been published. FD/MAS Borders are jagged and irregular, often referred to as resembling the "coast of Ma...	[]	26/2/2015	8/2/2024	27/6/2019	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mckd1	mckd1	[ "ADTKD-MUC1", "Medullary Cystic Kidney Disease Type 1 (MCKD1)", "MUC1 Kidney Disease (MKD)", "ADTKD-MUC1", "Medullary Cystic Kidney Disease Type 1 (MCKD1)", "MUC1 Kidney Disease (MKD)", "Mucin-1", "MUC1", "Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1" ]	Autosomal Dominant Tubulointerstitial Kidney Disease –	Anthony J Bleyer, Martina Živná, Kendrah Kidd, Stanislav Kmoch	Summary Autosomal dominant tubulointerstitial kidney disease – The diagnosis of ADTKD- Affected individuals are encouraged to prepare for kidney transplantation, the definitive treatment of ADTKD ADTKD-	## Diagnosis Autosomal dominant tubulointerstitial kidney disease – Consensus clinical diagnostic criteria for ADTKD- ADTKD- The majority of affected individuals are asymptomatic when abnormal laboratory findings initially appear, usually in the late teens or early twenties. The eGFR may decrease in childhood. The...	[ "AJ Bleyer, PS Hart, S Kmoch. Hereditary interstitial kidney disease.. Semin Nephrol. 2010;30:366-73", "AJ Bleyer, K Kidd, E Johnson, V Robins, L Martin, A Taylor, AJ Pinder, I Bowline, V Frankova, M Živná, KB Taylor, N Kim, JJ Baek, H Hartmannová, K Hodaňová, P Vyleťal, M Votruba, S Kmoch. Quality of life in pat...	15/8/2013	21/10/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mckd2	mckd2	[ "ADTKD-UMOD", "Uromodulin Kidney Disease", "ADTKD-UMOD", "Uromodulin Kidney Disease", "Uromodulin", "UMOD", "Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD" ]	Autosomal Dominant Tubulointerstitial Kidney Disease –	Anthony J Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch	Summary Autosomal dominant tubulointerstitial kidney disease – The diagnosis of ADTKD- It is appropriate to clarify the genetic status of apparently asymptomatic at-risk adult relatives in order to identify those with the familial Any relative who is a potential kidney donor should be tested for the familial ADTKD-	## Diagnosis Consensus clinical diagnostic criteria for autosomal dominant tubulointerstitial kidney disease – ADTKD- Usually, hyperuricemia in an individual with normal kidney function corresponds to a serum concentration of uric acid >1 SD of the normal value for age and sex. It is important to use age-related nor...	[]	12/1/2007	8/4/2021	23/12/2021	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mcleod	mcleod	[ "Endoplasmic reticulum membrane adapter protein XK", "XK", "McLeod Neuroacanthocytosis Syndrome" ]	McLeod Neuroacanthocytosis Syndrome	Hans H Jung, Adrian Danek, Ruth H Walker, Beat M Frey, Kevin Peikert	Summary McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males: CNS manifestations are a neurodegenerative basal ganglia disease including movement disorders, cogni...	## Diagnosis The diagnosis of McLeod neuroacanthocytosis syndrome (MLS) Progressive chorea syndrome, which also can be part of a clinical triad of movement disorders, cognitive alterations, and psychiatric symptoms ("Huntington-like syndrome") Seizures, mostly generalized Brain CT and MRI may demonstrate vari...	[ "FH Allen, SM Krabbe, PA Corcoran. A new phenotype (McLeod) in the Kell blood-group system.. Vox Sang 1961;6:555-60", "DG Anderson, S Carmona, K Naidoo, TL Coetzer, J Carr, DD Rudnicki, RH Walker, RL Margolis, A Krause. Absence of acanthocytosis in Huntington's disease-like 2: a prospective comparison with Huntin...	3/12/2004	16/9/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdef-cmd	mdef-cmd	[ "Laminin α2 Chain-Deficiency", "Laminin a2 Chain-Deficiency", "Congenital Muscular Dystrophy Type 1A (MDC1A)", "Late-Onset LAMA2 Muscular Dystrophy", "Laminin subunit alpha-2", "LAMA2", "LAMA2 Muscular Dystrophy" ]		Jorge Oliveira, João Parente Freixo, Manuela Santos, Teresa Coelho	Summary The clinical manifestations of In late-onset The diagnosis of	Congenital muscular dystrophy type 1A (MDC1A) Late-onset For synonyms and outdated names see • Congenital muscular dystrophy type 1A (MDC1A) • Late-onset ## Diagnosis The phenotypic spectrum of No consensus clinical diagnostic criteria for Onset at birth or within the first six months of life: profound hypoto...	[ "A Abdel Aleem, MF Elsaid, N Chalhoub, A Chakroun, KAS Mohamed, R AlShami, O Kuzu, RB Mohamed, K Ibrahim, N AlMudheki, O Osman, ME Ross. ELalamy O. Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.. Neuromuscu...	7/6/2012	17/9/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel15q13_3	mdel15q13_3	[ "Fanconi-associated nuclease 1", "Inactive Rho GTPase-activating protein 11B", "Krueppel-like factor 13", "Neuronal acetylcholine receptor subunit alpha-7", "OTU domain-containing protein 7A", "Transient receptor potential cation channel subfamily M member 1", "ARHGAP11B", "CHRNA7", "FAN1", "KLF13...	15q13.3 Recurrent Deletion	Bregje WM van Bon, Heather C Mefford, Bert BA de Vries, Christian P Schaaf	Summary Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recurrent deletion have no obvious clinical findings, implying that penetrance for the deletion is incomplete....	## Diagnosis No consensus clinical diagnostic criteria for the 15q13.3 recurrent deletion have been published. Individuals with the 15q13.3 recurrent deletion may have a wide range of clinical manifestations. The deletion itself may not lead to a clinically recognizable syndrome and a subset of persons with the recur...	[ "JA Bailey, Z Gu, RA Clark, K Reinert, RV Samonte, S Schwartz, MD Adams, EW Myers, PW Li, EE Eichler. Recent segmental duplications in the human genome.. Science. 2002;297:1003-7", "S Ben-Shachar, B Lanpher, JR German, M Qasaymeh, L Potocki, SC Nagamani, LM Franco, A Malphrus, GW Bottenfield, JE Spence, S Amato, ...	23/12/2010	17/11/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel15q24	mdel15q24	[ "15q24 Microdeletion" ]	15q24 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Heather Mefford, Natasha Shur, Jill Rosenfeld	Summary The 15q24 microdeletion syndrome is characterized by global developmental delay; mild to severe (usually at least moderate) intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive. Less common f...	## Diagnosis The clinical spectrum of the 15q24 microdeletion syndrome is variable. Developmental delay and intellectual disability are the most consistent features; however, no single clinical feature is required to establish the diagnosis. Features that should prompt consideration of this diagnosis in an individual...	[ "H al Kandari, N Katsumata, S Alexander, MA Rasoul. Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46,XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.. J Clin Endocr Metab. 2006;91:2821-6", "J Andrieux, C Dubourg, M Rio, T Attie-Bitach, E Del...	23/2/2012			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel16p12_2	mdel16p12_2	[ "16p12.1 Microdeletion", "16p12.1 Microdeletion", "16p12.2 Recurrent Deletion" ]	16p12.2 Recurrent Deletion	Santhosh Girirajan, Lucilla Pizzo, John Moeschler, Jill Rosenfeld	Summary 16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; indivi...	## Diagnosis No formal diagnostic criteria have been established for 16p12.2 recurrent deletion. Because of the variable clinical presentation of 16p12.2 recurrent deletion, the diagnosis is made by detection of 16p12.2 recurrent deletion on chromosomal microarray analysis (CMA) or other genomic analyses. The 16p12....	[]	26/2/2015	13/9/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel17q12	mdel17q12	[ "Hepatocyte nuclear factor 1-beta", "LIM/homeobox protein Lhx1", "HNF1B", "LHX1", "17q12 Recurrent Deletion Syndrome" ]	17q12 Recurrent Deletion Syndrome	Marissa W Mitchel, Daniel Moreno-De-Luca, Scott M Myers, Rebecca V Levy, Stefanie Turner, David H Ledbetter, Christa L Martin	Summary 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental dela...	## Diagnosis No consensus clinical diagnostic criteria for 17q12 recurrent deletion syndrome have been published. 17q12 recurrent deletion syndrome Note: Identification of an intragenic The diagnosis of 17q12 recurrent deletion syndrome Note: (1) For the purposes of this chapter, the term "17q12 recurrent dele...	[]	8/12/2016	6/2/2025	14/8/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel17q21_31	mdel17q21_31	[ "KdVS", "KdVS", "KAT8 regulatory NSL complex subunit 1", "Not applicable", "KANSL1", "Not applicable", "Koolen-de Vries Syndrome" ]	Koolen-de Vries Syndrome	David A Koolen, Angela Morgan, Bert BA de Vries	Summary Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals w...	## Diagnosis No consensus clinical diagnostic criteria for Koolen-de Vries syndrome (KdVS) have been published. KdVS Mild-to-moderate developmental delay or intellectual disability in which speech and language development is particularly affected AND Neonatal/childhood hypotonia and feeding difficulties Epileps...	[]	26/1/2010	2/2/2023	10/1/2013	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel1q21_1	mdel1q21_1	[ "Gap junction alpha-5 protein", "Gap junction alpha-8 protein", "Not applicable", "GJA5", "GJA8", "Not applicable", "1q21.1 Recurrent Microdeletion" ]	1q21.1 Recurrent Deletion	Rose Guo, Chad R Haldeman-Englert	Summary The 1q21.1 recurrent deletion itself does not lead to a clinically recognizable syndrome, as some persons with the deletion have no obvious clinical findings. Others have variable findings that most commonly include mildly dysmorphic but nonspecific facial features (>75%), mild intellectual disability or learni...	## Diagnosis The breakpoints of the distal 1q21.1 recurrent deletion described in this The 1q21.1 recurrent deletion Hypotonia Developmental delays Intellectual disability (ID), typically in the mild-to-moderate range, although not all individuals with this deletion have ID Microcephaly Poor growth Neurobehavio...	[]	24/2/2011	1/2/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel3q29	mdel3q29	[ "3q29 Deletion Syndrome", "3q29 Microdeletion Syndrome", "3q29 Deletion Syndrome", "3q29 Microdeletion Syndrome", "Not applicable", "3q29 Recurrent Deletion" ]	3q29 Recurrent Deletion	Jennifer Gladys Mulle, Michael J Gambello, Rossana Sanchez Russo, Melissa M Murphy, T Lindsey Burrell, Cheryl Klaiman, Stormi White, Celine A Saulnier, Elaine F Walker, Joseph F Cubells, Sarah Shultz, Longchuan Li	Summary 3q29 recurrent deletion is characterized by neurodevelopmental and/or psychiatric manifestations including mild-to-moderate intellectual disability (ID), autism spectrum disorder (ASD), anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), executive function deficits, graphomotor weakness, and psy...	## Diagnosis The 3q29 recurrent deletion Developmental delay typically including speech and motor delays Intellectual disability; mild to moderate (34%), severe (<5%) Neuropsychiatric disorders including attention-deficit/hyperactivity disorder, anxiety disorders, and/or autism spectrum disorder (ASD) Failure to t...	[]	22/9/2016	1/7/2021	19/10/2017	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mdel9q22_3	mdel9q22_3	[ "Fanconi anemia group C protein", "Not applicable", "Protein patched homolog 1", "FANCC", "Not applicable", "PTCH1", "9q22.3 Microdeletion" ]	9q22.3 Microdeletion – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Eric Muller, Louanne Hudgins	Summary 9q22.3 microdeletion, which includes deletion of The diagnosis of the 9q22.3 microdeletion is confirmed by demonstration of a heterozygous microdeletion at chromosome 9q22.3. The minimal critical region that is deleted recurrently in affected individuals (but not in controls) is 352 kb, and includes The 9q22.3...	## Diagnosis The clinical spectrum of the 9q22.3 microdeletion is variable and the clinical findings depend somewhat on the size of the microdeletion. All reported 9q22.3 microdeletions include Lamellar calcification of the falx cerebri prior to age 20 years Five or more basal cell carcinomas in a lifetime or one p...	[ "MM Cajaiba, AE Bale, M Alvarez-Franco, J McNamara, M Reyes-Mugica. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.. Nat Clin Pract Oncol 2006;3:575-80", "CP Chen, SP Lin, TH Wang, YJ Chen, M Chen, W Wang. Perinatal findings and molecular cytogenetic analyses of de novo interst...	18/8/2011	20/2/2014		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
me-ataxia	me-ataxia	[ "PRICKLE1-Related Progressive Myoclonic Epilepsy (PME) with Ataxia (Epilepsy, Progressive Myoclonic 1B [EPM1B])", "PRICKLE1-Related Non-PME Seizures", "PRICKLE1-Related Myoclonic Seizures, Developmental Delay, Mild Intellectual Disability, and Autism Spectrum Disorder", "PRICKLE1-Related Distal Symmetric Poly...		Mario Mastrangelo, Caterina Caputi, Dario Esposito, Vincenzo Leuzzi	Summary Individuals with biallelic Individuals with heterozygous The diagnosis of a Once the	Non-PME seizures Myoclonic seizures, developmental delay, mild intellectual disability, & autism spectrum disorder Distal symmetric polyneuropathy Central nervous system malformations For other genetic causes of these phenotypes, see • Non-PME seizures • Myoclonic seizures, developmental delay, mild intellectual ...	[ "H Algahtani, F Al-Hakami, M Al-Shehri, B Shirah, MH Al-Qahtani, AA Abdulkareem, MI Naseer. A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.. Seizure. 2019;69:133-9", "AG Bassuk, EH Sherr. A de novo mutation in PRICKLE1 in fetal agenesis of the ...	8/9/2009	21/4/2022	10/1/2013	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mecp2-dup	mecp2-dup	[ "Methyl-CpG-binding protein 2", "MECP2", "MECP2 Duplication Syndrome" ]		Hilde Van Esch	Summary The diagnosis of	## Diagnosis Severe-to-profound intellectual disability with limited or absent speech Early-onset hypotonia with very slow motor development Progressive spasticity predominantly of the lower limbs Predisposition to infections manifest as recurrent respiratory infections (in 75% of affected males) Epileptic seizure...	[ "EK Bijlsma, A Collins, FT Papa, MI Tejada, P Wheeler, EA Peeters, AC Gijsbers, JM van de Kamp, M Kriek, M Losekoot, AJ Broekma, JA Crolla, M Pollazzon, M Mucciolo, E Katzaki, V Disciglio, MI Ferreri, A Marozza, MA Mencarelli, C Castagnini, L Dosa, F Ariani, F Mari, R Canitano, G Hayek, MP Botella, B Gener, M Míngu...	18/1/2008	21/5/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mecr-dis	mecr-dis	[ "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN)", "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN)", "Enoyl-[acyl-carrier-protein] reductase, mitochondrial", "MECR", "MECR-Related Neurologic Disorder" ]		Gali Heimer, Allison Gregory, Penelope Hogarth, Susan Hayflick, Bruria Ben Zeev	Summary The diagnosis of	## Diagnosis To date no formal diagnostic criteria have been published for Childhood-onset dystonia, chorea, and other movement disorders: ages 1-6.5 years Childhood-onset optic atrophy: typically ages 4-12 years. Note that optic atrophy is not necessary to consider the diagnosis of The diagnosis of Note: (1) Pe...	[ "G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, LP Pietikäinen, JK Hiltunen, D Marek-Yagel, J Hamada, A Gregory, C Rogers, P Hogarth, MA Nance, N Shalva, A Veber, M Tzadok, A Nissenkorn, D Tonduti, F Renaldo, I Kraoua, C Panteghini, L Valletta, B Garavaglia, MJ Cowley, V Gayevskiy, T Roscioli, JM Silber...	9/5/2019			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
med13l	med13l	[ "MED13L Haploinsufficiency Syndrome", "MED13L-Related Intellectual Disability", "MED13L Haploinsufficiency Syndrome", "MED13L-Related Intellectual Disability", "Mediator of RNA polymerase II transcription subunit 13-like", "MED13L", "MED13L Syndrome" ]		Alicia Nicole Campbell, Jennifer Bain, Steven James Doyle	Summary The diagnosis of	## Diagnosis Mild-to-profound developmental delay Intellectual disability of variable degree Hypotonia Neurobehavioral manifestations Facial dysmorphisms. Depressed nasal bridge and bulbous nose, broad forehead, frontal bossing, up- or down-slanted palpebral fissures, large, low-set ears with prominent antihelix...	[]	10/4/2025			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mef2c-dis	mef2c-dis	[ "MEF2C Deficiency", "MEF2C Haploinsufficiency Syndrome (MCHS)", "MEF2C-Related Neurodevelopmental Disorder", "MEF2C-Related Syndrome", "Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language (NEDHSIL)", "MEF2C Deficiency", "MEF2C Haploinsufficiency Syndrome (MCHS)"...		Jessica Cooley Coleman, Steven A Skinner	Summary The diagnosis of	## Diagnosis Moderate-to-profound developmental delay (including lack of speech in 95% and inability to walk independently in 50%) Profound intellectual disability Hypotonia Feeding/gastrointestinal issues (constipation, gastroesophageal reflux disease, feeding difficulties) Dysmorphic facial features (broad for...	[]	12/12/2024			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
megdel	megdel	[ "3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome", "MEGDHEL Syndrome", "SERAC1 Defect", "MEGD(H)EL Syndrome (3-Methylglutaconic Aciduria with Deafness-Dystonia, [Hepatopathy], Encephalopathy, and Leigh-Like Syndrome)", "Juvenile-Onset Complicated Hereditary Spastic Paraple...	SERAC1 Deficiency	Saskia B Wortmann, Arjan PM de Brouwer, Ron A Wevers, Eva Morava	Summary The phenotypic spectrum of SERAC1 deficiency comprises MEGD(H)EL syndrome (3- The diagnosis of SERAC1 deficiency is established in a proband with suggestive clinical and metabolic (3-methylglutaconic aciduria) findings and biallelic pathogenic variants in SERAC1 deficiency is inherited in an autosomal recessive...	MEGD(H)EL syndrome (3- Juvenile-onset complicated hereditary spastic paraplegia (cHSP) with mild nonprogressive intellectual disability Adult-onset generalized dystonia For other genetic causes of these phenotypes, see • MEGD(H)EL syndrome (3- • Juvenile-onset complicated hereditary spastic paraplegia (cHSP) with ...	[ "C Giron, E Roze, B Degos, A Méneret, C Jardel, A Lannuzel, F Mochel. Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome.. Tremor Other Hyperkinet Mov (N Y) 2018;8:554", "T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, JE Posey, SN Jhangiani, JA Rosenfeld, MT Cho, S Fox,...	17/4/2014	23/7/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
melas	melas	[ "Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes", "MELAS, MT-ND6-Related", "MELAS, MT-ND1-Related", "MELAS, MT-TK-Related", "MELAS, MT-TS1-Related", "MELAS, MT-ND5-Related", "MELAS, MT-TL1-Related", "MELAS, MT-TS2-Related", "MELAS, MT-TF-Related", "MELAS, MT-TQ-Related"...	MELAS	Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia	Summary MELAS ( The diagnosis of MELAS is based on meeting clinical diagnostic criteria and identifying a pathogenic variant in one of the genes associated with MELAS. The m.3243A>G pathogenic variant in the mitochondrial gene MELAS is caused by pathogenic variants in mtDNA and is transmitted by maternal inheritance. T...	## Diagnosis Clinical diagnostic criteria for MELAS ( MELAS ( Stroke-like episodes before the age of 40 years Acquired encephalopathy with seizures and/or dementia Recurrent headaches Muscle weakness and exercise intolerance Cortical vision loss Hemiparesis Recurrent vomiting Short stature Hearing impairment...	[]	27/2/2001	29/11/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
men1	men1	[ "MEN1", "MEN1 Syndrome", "Multiple Endocrine Adenomatosis", "Wermer Syndrome", "MEN1", "MEN1 Syndrome", "Multiple Endocrine Adenomatosis", "Wermer Syndrome", "Menin", "MEN1", "Multiple Endocrine Neoplasia Type 1" ]	Multiple Endocrine Neoplasia Type 1	Francesca Giusti, Francesca Marini, Maria Luisa Brandi	Summary Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Non-endocrine tumors include facial angiofibromas, collagenomas, lipoma...	## Diagnosis Multiple endocrine neoplasia type 1 (MEN1) Prolactinomas (prolactin-secreting anterior pituitary adenomas) manifest as oligomenorrhea/amenorrhea and galactorrhea in females, and sexual dysfunction and (more rarely) gynecomastia in males. Growth hormone-secreting anterior pituitary adenomas cause gigan...	[]	31/8/2005	10/3/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
men2	men2	[ "MEN2", "MEN2 Syndrome", "MEN2 Syndrome", "Multiple Endocrine Neoplasia Type 2A (MEN2A)", "Multiple Endocrine Neoplasia Type 2B (MEN2B)", "Familial Medullary Thyroid Carcinoma (FMTC)", "Proto-oncogene tyrosine-protein kinase receptor ret", "RET", "Multiple Endocrine Neoplasia Type 2" ]	Multiple Endocrine Neoplasia Type 2	Charis Eng, Gilman Plitt	Summary Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, familial medullary thyroid carcinoma (FMTC, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased r...	Multiple endocrine neoplasia type 2A (MEN2A) Familial medullary thyroid carcinoma (FMTC) Multiple endocrine neoplasia type 2B (MEN2B) For synonyms and outdated names see • Multiple endocrine neoplasia type 2A (MEN2A) • Familial medullary thyroid carcinoma (FMTC) • Multiple endocrine neoplasia type 2B (MEN2B) ## ...	[]	27/9/1999	10/8/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
men4	men4	[ "MEN4", "CDKN1B-Related Multiple Endocrine Neoplasia", "MEN4", "CDKN1B-Related Multiple Endocrine Neoplasia", "Cyclin-dependent kinase inhibitor 1B", "CDKN1B", "Multiple Endocrine Neoplasia Type 4" ]	Multiple Endocrine Neoplasia Type 4	Pamela Brock, Lawrence Kirschner	Summary Multiple endocrine neoplasia type 4 (MEN4) is characterized by the development of endocrine tumors, especially those involving the parathyroid and/or pituitary gland. Parathyroid adenomas and parathyroid hyperplasia manifest as hypercalcemia (primary hyperparathyroidism) as a result of the overproduction of par...	## Diagnosis Multiple endocrine neoplasia type 4 (MEN4) Adrenocorticotrophic hormone-secreting anterior pituitary adenomas are mostly associated with Cushing disease. Growth hormone-secreting anterior pituitary adenomas cause gigantism in children and signs and symptoms of acromegaly in adults. Prolactinomas (pro...	[]	21/9/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
menkes	menkes	[ "Classic Menkes Disease", "Occipital Horn Syndrome", "ATP7A-Related Distal Motor Neuropathy", "Copper-transporting ATPase 1", "ATP7A", "ATP7A-Related Copper Transport Disorders" ]		Stephen G Kaler, Andrew T DiStasio	Summary Menkes disease, occipital horn syndrome (OHS), and While nonspecific temperature instability and hypoglycemia in the neonatal period may be noted retrospectively, infants with Menkes disease and OHS are characterized by low concentrations of copper in some tissues as a result of impaired intestinal copper absor...	Classic Menkes disease Occipital horn syndrome For synonyms and outdated names see • Classic Menkes disease • Occipital horn syndrome ## Diagnosis An Shortly thereafter, hair changes become manifest: the scalp and (usually) eyebrow hair is short, sparse, coarse, twisted, and often lightly pigmented (white, silve...	[ "B Borm, LB Moller, I Hausser, M Emeis, K Baerlocher, N Horn, R Rossi. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.. J Pediatr 2004;145:119-21", "V Desai, A Donsante, KJ Swoboda, M Martensen, J Thomps...	9/5/2003	15/4/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
merrf	merrf	[ "Myoclonic Epilepsy Associated with Ragged Red Fibers", "Myoclonic Epilepsy Associated with Ragged-Red Fibers", "Not applicable", "MT-TF", "MT-TH", "MT-TI", "MT-TK", "MT-TL1", "MT-TP", "MT-TS1", "MT-TS2", "MERRF" ]	MERRF	Frances Velez-Bartolomei, Chung Lee, Gregory Enns	Summary MERRF ( A clinical diagnosis of MERRF can be established in a proband with the following four "canonic" features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy. A molecular diagnosis is established in a proband with suggestive findings and a pathogenic variant in one ...	## Diagnosis Clinical diagnostic criteria for MERRF ( MERRF ( Myoclonus Generalized epilepsy Ataxia Myopathy Exercise intolerance Dementia Ptosis Sensorineural hearing loss Short stature Optic atrophy Peripheral neuropathy Less common clinical signs (seen in <50% of affected individuals) include the fol...	[ "PF Chinnery, N Howell, RN Lightowlers, DM Turnbull. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.. Brain. 1998;121:1889-94", "A Chomyn, G Meola, N Bresolin, ST Lai, G Scarlato, G Attardi. In vitro genetic transfer of protein synthesis and res...	3/6/2003	7/1/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mf-dys-mic	mf-dys-mic	[ "Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA), EFTUD2-Related Mandibulofacial Dysostosis with Microcephaly (Guion-Almeida Type)", "Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)", "EFTUD2-Related Mandibulofacial Dysostosis with Microcephaly (Guion-Almeida Type)", "116 kDa U5 small nuclear ri...	Mandibulofacial Dysostosis with Microcephaly	Matthew Lines, Taila Hartley, Stella K MacDonald, Kym M Boycott	Summary Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia, microcephaly (congenital or postnatal onset), intellectual disability (mild, moderate, or severe), malformations of the external ear, and hearing loss that is typically conductive. Associated craniofacial ma...	## Diagnosis Mandibulofacial dysostosis with microcephaly (MFDM) The diagnosis of MFDM Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for ...	[ "C Bartels, C Klatt, R Lührmann, P Fabrizio. The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome.. EMBO Rep. 2002;3:875-80", "D Bick, P Fraser, M Gutzeit, J Harris, T Hambuch, D Helbling, H Jacob, JN Kersten, SR Leuthner, T May, PE North, SZ Prisco, ...	3/7/2014	12/11/2020	6/4/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mfm	mfm	[ "Desminopathy", "Alpha-B Crystallinopathy", "Myotilinopathy", "Filaminopathy", "Zaspopathy", "BAG3-Related Myofibrillar Myopathy", "DNAJB6-Related Myofibrillar Myopathy", "FHL1-Related Myofibrillar Myopathy", "Alpha-crystallin B chain", "BAG family molecular chaperone regulator 3", "Desmin", "...	Myofibrillar Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Duygu Selcen, Andrew G Engel	Summary Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. A minority of individuals experience sensory symptoms, muscle stiffn...	Alpha-B crystallinopathy Desminopathy Filaminopathy Myotilinopathy Zaspopathy For synonyms and outdated names see • Alpha-B crystallinopathy • Desminopathy • Filaminopathy • Myotilinopathy • Zaspopathy ## Diagnosis The term myofibrillar myopathy refers to a group of genetically distinct disorders linked by ...	[ "SC Abraham, D DeNofrio, E Loh, JM Minda, JE Tomaszewski, GG Pietra, C Reynolds. Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: report of a case with immunoelectron microscopy.. Hum Pathol. 1998;29:876-82", "E Arbustini, P Morbini, M Grasso, R Fasani, L Verga, O Bellini, B Dal Bello, C C...	28/1/2005	29/10/2012	27/7/2010	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mga3	mga3	[ "3-Methylglutaconic Aciduria Type 3", "OPA3 Defect", "3-Methylglutaconic Aciduria Type 3", "OPA3 Defect", "Optic atrophy 3 protein", "OPA3", "Costeff Syndrome" ]	Costeff Syndrome	Yair Anikster	Summary Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have...	## Diagnosis The diagnosis of Costeff syndrome Relatively normal early development and growth Bilateral early-onset optic atrophy (pathologically pale optic discs, attenuated papillary vasculature, and visual evoked potentials that show bilateral prolonged latencies consistent with optic atrophy) Choreoathetoid m...	[ "Y Anikster, R Kleta, A Shaag, WA Gahl, O Elpeleg. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.. Am J Hum Genet 2001;69:1218-24", "PG Barth, F Valianpour, VM Bowen, J Lam, M Duran, FM ...	28/7/2006	30/4/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mhs	mhs	[ "Malignant Hyperpyrexia", "Malignant Hyperpyrexia", "Ryanodine receptor 1", "SH3 and cysteine-rich domain-containing protein 3", "Voltage-dependent L-type calcium channel subunit alpha-1S", "CACNA1S", "RYR1", "STAC3", "Nonsyndromic Malignant Hyperthermia Susceptibility" ]	Nonsyndromic Malignant Hyperthermia Susceptibility	Sheila Riazi, Leslie G Biesecker, Henry Rosenberg, Robert T Dirksen	Summary Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflura...	## Diagnosis Consensus guidelines for the diagnosis of malignant hyperthermia susceptibility (MHS) have been published [ MHS Each clinical finding is weighted as to significance in being associated with MHS as determined by malignant hyperthermia (MH) experts using a Delphi method. Points are assigned according to w...	[]	19/12/2003	7/8/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
miccap-ms	miccap-ms	[ "MIC-CAP Syndrome", "MIC-CAP Syndrome", "STAM-binding protein", "STAMBP", "Microcephaly-Capillary Malformation Syndrome" ]	Microcephaly-Capillary Malformation Syndrome	Melissa T Carter, Ghayda Mirzaa, Laura M McDonell, Kym M Boycott	Summary The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal...	## Diagnosis No consensus clinical diagnostic criteria for microcephaly-capillary malformation (MIC-CAP) syndrome have been published. MIC-CAP syndrome Some may have an abnormal hair pattern in a "Mohawk" distribution (sparse laterally and longer along sagittal suture) and/or abnormal or multiple hair whorls. ...	[ "MT Carter, MT Geraghty, L De La Cruz, RR Reichard, L Boccuto, CE Schwartz, CL Clericuzio. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.. Am J Med Genet. 2011;155A:301-6", "CW Davies, LN Paul, M Kim, C Das. Structural and thermodynamic comparison of the ...	12/12/2013	18/3/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
microcephaly	microcephaly	[ "Abnormal spindle-like microcephaly-associated protein", "ATR-interacting protein", "CDK5 regulatory subunit-associated protein 2", "Centromere protein J", "Centrosomal protein of 135 kDa", "Centrosomal protein of 152 kDa", "Centrosomal protein of 63 kDa", "Cyclin-dependent kinase 6", "DNA endonucle...	Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Alain Verloes, Séverine Drunat, Pierre Gressens, Sandrine Passemard	Summary Primary autosomal recessive microcephalies (MCPH) and Seckel syndrome (SCKS) spectrum disorders are characterized by microcephaly and the absence of visceral malformations. Although MCHP and SCKS were previously distinguished by height (maximum height in SCKS was equivalent to the minimum height in MCPH), stat...	## Diagnosis The microcephaly is characterized by the following: Onset during the second trimester of gestation Occipito-frontal head circumference (OFC) at birth that is equal to or less than -2 SD (and often < -3 SD) below the mean for sex, age, and ethnicity. After birth, the OFC continues to increase, but at a s...	[ "Y Adachi, A Poduri, A Kawaguch, G Yoon, MA Salih, F Yamashita, CA Walsh, AJ Barkovich. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.. AJNR Am J Neuroradiol. 2011;32:1123-9", "MS Al-Dosari, R Shaheen, D Colak, FS Alkuraya. Novel CENPJ mutation causes Seckel s...	1/9/2009	31/10/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
microph-lsd	microph-lsd	[ "Microphthalmia, Dermal Aplasia, and Sclerocornea (MIDAS) Syndrome", "MLS Syndrome", "MLS Syndrome", "Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome", "Cytochrome c oxidase subunit 7B, mitochondrial", "Holocytochrome c-type synthase", "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit...	Microphthalmia with Linear Skin Defects Syndrome	Manuela Morleo, Brunella Franco	Summary Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide v...	## Diagnosis Microphthalmia with linear skin defects (MLS) syndrome Microphthalmia and/or anophthalmia Reported in 81% of affected individuals Can be unilateral or bilateral (see Linear skin defects Reported in 75% of affected individuals Present at birth Usually involve the face and neck (see Heal with age, l...	[ "MS Alberry, G Juvanic, J Crolla, P Soothill, R Newbury-Ecob. Pseudotail as a feature of microphthalmia with linear skin defects syndrome.. Clin Dysmorphol. 2011;20:111-3", "LI al-Gazali, RF Mueller, A Caine, A Antoniou, A McCartney, M Fitchett, NR Dennis. Two 46,XX,t(X;Y) females with linear skin defects and con...	18/6/2009	26/7/2018	8/9/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
milroy	milroy	[ "Hereditary Lymphedema Type I", "Hereditary Lymphedema Type I", "Vascular endothelial growth factor receptor 3", "FLT4", "Milroy Disease" ]	Milroy Disease	Malou Van Zanten, Sahar Mansour, Pia Ostergaard, Peter Mortimer, Kristiana Gordon	Summary Milroy disease is characterized by lower-limb lymphedema, present as pedal edema at (or before) birth or developing soon after. Occasionally it presents later in life. The severity of edema shows both inter- and intrafamilial variability. Swelling is usually bilateral but can be asymmetric. The degree of edema ...	## Diagnosis Milroy disease Lower-limb swelling that is: Usually (not always) bilateral Present at birth or develops soon after Note: In neonates the swelling predominantly affects the dorsum of the feet; with age, the swelling may improve or progress to affect the below-knee region (rarely extending above the k...	[]	27/4/2006	18/2/2021	6/4/2007	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mirage	mirage	[ "Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy", "Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy", "Sterile alpha motif domain-containing protein 9", "SAMD9", "MIRAGE Syndrome" ]	MIRAGE Syndrome	Kanako Tanase-Nakao, Timothy S Olson, Satoshi Narumi	Summary MIRAGE syndrome is an acronym for the major findings of The diagnosis of MIRAGE syndrome is established in a proband with suggestive findings and a heterozygous germline gain-of-function pathogenic variant in MIRAGE syndrome is an autosomal dominant disorder typically caused by a	## Diagnosis Formal diagnostic criteria for MIRAGE syndrome have not been established. MIRAGE syndrome Easy bruising, mucocutaneous bleeding, oral ulcers, fatigue, pallor Recurrent bacterial infections including pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneou...	[]	25/11/2020			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mirror	mirror	[ "Congenital Mirror Movement Disorder", "Congenital Mirror Movement Disorder", "DNA repair protein RAD51 homolog 1", "Netrin receptor DCC", "Netrin-1", "DCC", "NTN1", "RAD51", "Congenital Mirror Movements" ]	Congenital Mirror Movements	Aurélie Méneret, Oriane Trouillard, Margaux Dunoyer, Christel Depienne, Emmanuel Roze	Summary The disorder of congenital mirror movements (CMM) is characterized by early-onset, obvious mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side) in individuals who typically have no other clinical signs or symptoms. Although mirror movements vary...	## Diagnosis The diagnosis of the disorder of congenital mirror movements (CMM) is established by clinical findings and, in some instances, molecular genetic testing. CMM Onset of mirror movements (defined as involuntary movements of one side of the body that mirror intentional movements on the opposite side) in i...	[]	12/3/2015	24/9/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
miyoshi	miyoshi	[ "Miyoshi Muscular Dystrophy (Miyoshi Myopathy)", "Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)", "DYSF-Related Asymptomatic HyperCKemia", "DYSF-Related Distal Myopathy with Anterior Tibial Onset", "Dysferlin", "DYSF", "Dysferlinopathy" ]	Dysferlinopathy	Masashi Aoki, Toshiaki Takahashi	Summary Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy type 2B (LGMD2B); and two minor phenotypes: asymptomatic hyperCKemia and distal myopathy with anterior tibial onset (DMAT). The diagnosis of dysferlino...	Miyoshi muscular dystrophy (Miyoshi myopathy) Limb-girdle muscular dystrophy type 2B Asymptomatic hyperCKemia Distal myopathy with anterior tibial onset For synonyms and outdated names see • Miyoshi muscular dystrophy (Miyoshi myopathy) • Limb-girdle muscular dystrophy type 2B • Asymptomatic hyperCKemia • Dista...	[ "Z Argov, M Sadeh, K Mazor, D Soffer, E Kahana, I Eisenberg, S Mitrani-Rosenbaum, I Richard, J Beckmann, S Keers, R Bashir, K Bushby, H Rosenmann. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.. Brain 2000;123:1229-37", "D Bansal, K Miyake, SS Vogel, S Groh, CC Chen,...	5/2/2004	27/5/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mkks	mkks	[ "Molecular chaperone MKKS", "MKKS", "McKusick-Kaufman Syndrome" ]	McKusick-Kaufman Syndrome	Anne M Slavotinek	Summary McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic...	## Diagnosis No consensus clinical diagnostic criteria for McKusick-Kaufman syndrome (MKS) have been published. Diagnosis of McKusick-Kaufman syndrome (MKS) should be suspected in individuals with the following features. Hydrometrocolpos (HMC) * Postaxial polydactyly (PAP) ** Congenital heart disease (CHD) Ge...	[]	10/9/2002	3/12/2020	8/10/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ml2	ml2	[ "Mucolipidosis II (ML II)", "Mucolipidosis III Alpha/Beta", "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta", "GNPTAB", "GNPTAB-Related Disorders" ]		Jules G Leroy, Sara S Cathey, Michael J Friez	Summary The diagnosis of a	Mucolipidosis II (ML II) Mucolipidosis IIIα/β (ML IIIα/β) Phenotypes intermediate between ML II and IIIα/β For synonyms and outdated names, see For other genetic causes of these phenotypes see • Mucolipidosis II (ML II) • Mucolipidosis IIIα/β (ML IIIα/β) • Phenotypes intermediate between ML II and IIIα/β ## Dia...	[]	26/8/2008	29/8/2019	7/7/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ml3a	ml3a	[ "Mucolipidosis IIIA", "Pseudo-Hurler Polydystrophy", "Pseudo-Hurler Polydystrophy", "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta", "GNPTAB", "Mucolipidosis III Alpha/Beta" ]	Mucolipidosis III Alpha/Beta – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Jules G Leroy, Sara S Cathey, Michael J Friez	Summary Mucolipidosis alpha/beta (ML III alpha/beta; pseudo-Hurler polydystrophy), a slowly progressive disorder with clinical onset at approximately age three years, is characterized by slow growth rate and subnormal stature; radiographic evidence of mild to moderate dysostosis multiplex; joint stiffness and pain ini...	## Diagnosis The following clinical features contribute to early diagnosis of mucolipidosis III alpha/beta (ML III alpha/beta) [ Average age at which features are recognized as distinctive: three years (range: late infancy to late childhood) Slow growth rate that gradually decreases Frequent upper respiratory infec...	[ "R Bargal, M Zeigler, B Abu-Libdeh, V Zuri, H Mandel, Z Ben Neriah, F Stewart, N Elcioglu, T Hindi, M Le Merrer, G Bach, A Raas-Rothschild. When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients.. Mol Genet Metab 2006;88:359-63", "M Bao, JL Booth, BJ Elmendorf, WM Canfield. Bovine UDP-...	26/8/2008	10/5/2012	7/7/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ml3c	ml3c	[ "N-acetylglucosamine-1-phosphotransferase subunit gamma", "GNPTG", "Mucolipidosis III Gamma" ]	Mucolipidosis III Gamma	Annick Raas-Rothschild, Ronen Spiegel	Summary Mucolipidosis III gamma (ML IIIγ) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood; the progressive course results in severe functional impairment and significant morbidity from chronic pain. Cardiorespiratory compl...	## Diagnosis Formal diagnostic criteria for mucolipidosis III gamma have not been established. Mucolipidosis III gamma (ML IIIγ) Growth rate deceleration Joint stiffness of the fingers, shoulders, and hips Gradual mild coarsening of facial features Genu valgum Spinal deformities including scoliosis and hyperlo...	[]	28/1/2010	21/11/2019	29/9/2011	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ml4	ml4	[ "Mucolipin-1", "MCOLN1", "Mucolipidosis IV" ]	Mucolipidosis IV	Albert Misko, Yulia Grishchuk, Ehud Goldin, Raphael Schiffmann	Summary Mucolipidosis IV (MLIV) is an ultra-rare lysosomal storage disorder characterized by severe psychomotor delay, progressive visual impairment, and achlorhydria. Individuals with MLIV typically present by the end of the first year of life with delayed developmental milestones (due to a developmental brain abnorma...	## Diagnosis Mucolipidosis IV (MLIV) Early onset of developmental delay whether static, as in cerebral palsy, or progressively declining with loss of previously acquired cognitive and motor abilities [ Dystrophic retinopathy with or without corneal clouding [ Elevated plasma gastrin concentration (due to achlor...	[ "G Altarescu, M Sun, DF Moore, JA Smith, EA Wiggs, BI Solomon, NJ Patronas, KP Frei, S Gupta, CR Kaneski, OW Quarrell, SA Slaugenhaupt, E Goldin, R Schiffmann. The neurogenetics of mucolipidosis type IV.. Neurology 2002;59:306-13", "N Amir, J Zlotogora, B Gideon. Mucolipidosis type IV: clinical spectrum and natur...	28/1/2005	11/2/2021	1/12/2005	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mlc	mlc	[ "Van der Knaap Disease", "Van der Knaap Disease", "Improving Megalencephalic Leukoencephalopathy with Subcortical Cysts (Improving MLC)", "Classic Megalencephalic Leukoencephalopathy with Subcortical Cysts (Classic MLC)", "Aquaporin-4", "G-protein coupled receptor family C group 5 member B", "Hepatic an...	Megalencephalic Leukoencephalopathy with Subcortical Cysts	Rogier Min, Truus EM Abbink, Marjo S van der Knaap	Summary Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by two phenotypes: classic MLC and improving MLC. Individuals with Individuals with The diagnosis of classic MLC is established in individuals with suggestive clinical findings and characteristic abnormalities identified on brain ...	Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC): Included Phenotypes Similar initial presentation followed by stabilization, sometimes improvement, & no secondary decline Brain MRI changes typically improve or normalize; no delayed-onset neurologic decline AD = autosomal dominant; AR = autosomal rec...	[]	11/8/2003	27/7/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mld	mld	[ "ARSA Deficiency", "Metachromatic Leukodystrophy", "Metachromatic Leukodystrophy", "ARSA Deficiency", "Arylsulfatase A", "ARSA", "Arylsulfatase A Deficiency" ]	Arylsulfatase A Deficiency	Natalia Gomez-Ospina	Summary Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile, juvenile, and adult MLD. The age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in th...	## Diagnosis Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) Note: (1) The use of low-temperature assays can minimize interference by other arylsulfatases and lower the baseline level [ Note: For MLD, the term "pseudodeficiency" refers to very low levels of arylsulfatase A enzyme activ...	[]	30/5/2006	8/2/2024	25/4/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mlid-maternal	mlid-maternal	[ "Inactive protein-arginine deiminase type-6", "KH domain-containing protein 3", "NACHT, LRR and PYD domains-containing protein 2", "NACHT, LRR and PYD domains-containing protein 5", "NACHT, LRR and PYD domains-containing protein 7", "KHDC3L", "NLRP2", "NLRP5", "NLRP7", "PADI6", "Maternal Effect ...	Maternal Effect Gene-Related Multilocus Imprinting Disturbances	Zeynep Tümer, Thomas Eggermann, Saskia Maas, Jet Bliek, Deborah Mackay	Summary The purpose of this overview is to: Briefly describe the concept of Briefly review selected well-described Review the Provide an Inform	## Genomic Imprinting For the purposes of this In humans there are approximately 100 imprinted genomic regions; some of the imprinted loci comprise single genes, while others contain clusters of genes [ In these regions, gene expression is regulated by imprinting centers that are differently epigenetically marked (...	[]	15/5/2025			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mma	mma	[ "Isolated Methylmalonic Aciduria", "Isolated Methylmalonic Aciduria", "Isolated Methylmalonic Acidemia: Partially Deficient or B12-Responsive", "Methylmalonyl-CoA Epimerase Deficiency", "Isolated Methylmalonic Acidemia: Infantile/Non-B12-Responsive", "Cobalamin trafficking protein CblD", "Corrinoid aden...	Isolated Methylmalonic Acidemia	Irini Manoli, Jennifer L Sloan, Charles P Venditti	Summary For this Infantile/non-B Partially deficient or B Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diag...	Isolated Methylmalonic Acidemia/Aciduria: Included Phenotypes ## Diagnosis For this Elevated C3 values above the cutoff reported by the screening laboratory are considered positive and require follow-up biochemical testing (see also the In the US, individual state NBS programs determine cutoffs based on analytic an...	[]	16/8/2005	8/9/2022	1/12/2016	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mmd	mmd	[ "Minicore Disease", "Minicore Myopathy", "Multicore Disease", "Multicore Myopathy", "Multiminicore Myopathy", "Minicore Disease", "Minicore Myopathy", "Multicore Disease", "Multicore Myopathy", "Multiminicore Myopathy", "Ryanodine receptor 1", "Selenoprotein N", "RYR1", "SELENON", "Multi...	Multiminicore Disease – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Alan H Beggs, Pankaj B Agrawal	Summary Multiminicore disease (MmD) is broadly classified into four groups: Classic form (75% of individuals) Moderate form, with hand involvement (<10%) Antenatal form, with arthrogryposis multiplex congenita (<10%) Ophthalmoplegic form (<10%) Onset of the classic form is usually congenital or early in childhood with...	## Diagnosis Multiminicore disease (MmD) has a wide clinical spectrum with four distinct phenotypes (see The diagnosis of MmD is based on the presence of multiple "minicores," small zones of sarcomeric disorganization and/or diminished oxidative activity that correlate with lack of mitochondria in muscle fibers. Unli...	[ "PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, C Wallgren-Pettersson, W Wallefeld, NG Laing, BT Darras, SK Maciver, PR Dormitzer, AH Beggs. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.. Am J Hum Genet. 2007;80:162-7", "CG...	25/3/2003	24/1/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mmihs-ov	mmihs-ov	[ "Berdon Syndrome", "MMHS", "Berdon Syndrome", "Actin, gamma-enteric smooth muscle", "Leiomodin-1", "Myosin light chain kinase, smooth muscle", "Myosin regulatory light polypeptide 9", "Myosin-11", "Phosducin-like protein 3", "Plasma membrane calcium-transporting ATPase 4", "ACTG2", "ATP2B4", ...	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview	Lusine Ambartsumyan	Summary The purpose of this overview is to: Describe the Review the Provide an Review Inform	## Clinical Characteristics of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by megacystis (bladder distention in the absence of mechanical obstruction), microcolon, and intestinal hypoperistalsis (dysmotility). This rare d...	[]	9/5/2019	1/8/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mn1-ctt	mn1-ctt	[ "Transcriptional activator MN1", "MN1", "MN1 C-Terminal Truncation Syndrome" ]		Christopher CY Mak, Jasmine LF Fung, Mianne Lee, Angela E Lin, Jeanne Amiel, Dan Doherty, Christopher T Gordon, Brian HY Chung	Summary Individuals with No consensus clinical diagnostic criteria for MCTT syndrome have been published. The diagnosis is established in a proband with suggestive findings and a heterozygous pathogenic variant in MCTT syndrome is an autosomal dominant disorder typically caused by a	## Diagnosis No consensus clinical diagnostic criteria for Intellectual disability (ID) with severe expressive language delay Hypotonia Delays in motor development Hearing loss (conductive or sensorineural) Distinctive craniofacial features (See Brain Imaging Features in Individuals with MCTT Syndrome Based o...	[ "A Burford, A Mackay, S Popov, M Vinci, D Carvalho, M Clarke, E Izquierdo, A Avery, TS Jacques, WJ Ingram, AS Moore. The ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1: BEND2 fusion.. Sci Rep. 2018;8:1032", "J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ ...	13/8/2020			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mngie	mngie	[ "Mitochondrial Neurogastrointestinal Encephalopathy Syndrome", "MNGIE Syndrome", "Thymidine Phosphorylase Deficiency", "MNGIE Syndrome", "Thymidine Phosphorylase Deficiency", "Mitochondrial Neurogastrointestinal Encephalopathy Syndrome", "Thymidine phosphorylase", "TYMP", "Mitochondrial Neurogastroi...	Mitochondrial Neurogastrointestinal Encephalopathy Disease	Michio Hirano	Summary Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmopleg...	## Diagnosis MNGIE ( Severe gastrointestinal (GI) dysmotility Cachexia Ptosis External ophthalmoplegia Sensorimotor neuropathy (usually mixed axonal and demyelinating) Note: Although magnetic resonance spectroscopy (MRS) can show increases in lactate within the white matter, it is not a sensitive diagnostic te...	[ "RS Bedlack, T Vu, S Hammans, SA Sparr, B Myers, J Morgenlander, M Hirano. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy.. Muscle Nerve 2004;29:364-8", "NS Brown, R Bicknell. Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis.. Biochem J 1998;334:1-8", "FJ Caro...	22/4/2005	14/1/2016		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mody-ov	mody-ov	[ "MODY Overview", "MODY Overview", "ATP-binding cassette sub-family C member 8", "ATP-sensitive inward rectifier potassium channel 11", "Bile salt-activated lipase", "DCC-interacting protein 13-alpha", "Hepatocyte nuclear factor 1-alpha", "Hepatocyte nuclear factor 1-beta", "Hepatocyte nuclear factor...	Maturity-Onset Diabetes of the Young Overview	Rochelle Naylor, Amy Knight Johnson, Daniela del Gaudio	Summary The purpose of this overview is to: Describe the Review the Provide an Inform (when possible) Inform	## Clinical Characteristics of MODY Maturity-onset diabetes of the young (MODY) is a group of inherited disorders of non-autoimmune diabetes mellitus which usually present in adolescence or young adulthood. A clinical diagnosis of MODY can be suspected in individuals with: Early-onset diabetes in adolescence or you...	[]	24/5/2018			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mona	mona	[ "Torg Syndrome", "Torg-Winchester Syndrome", "MMP2-Related Multicentric Osteolysis", "Nodulosis", "and Arthropathy", "Torg Syndrome", "Torg-Winchester Syndrome", "72 kDa type IV collagenase", "MMP2", "Multicentric Osteolysis Nodulosis and Arthropathy" ]	Multicentric Osteolysis Nodulosis and Arthropathy	Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, Katta Mohan Girisha	Summary Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Othe...	## Diagnosis Formal diagnostic criteria have not been established for multicentric osteolysis nodulosis and arthropathy (MONA). MONA Joint disease manifest predominantly as pain, swelling, and contractures of the small joints of the hands and feet in early childhood (See Subcutaneous nodules, usually on the palms...	[ "SM Al-Mayouf, M Majeed, C Hugosson, S Bahabri. New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome.. Am J Med Genet. 2000;93:5-10", "J Azzollini, D Rovina, C Gervasini, I Parenti, A Fratoni, MV Cubellis, A Cerri, L Pietrogrande, L Larizza. Functional characterisation of a nove...	14/7/2016	9/9/2021	30/3/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mono7-mds	mono7-mds	[ "Familial Monosomy 7 Syndrome" ]	Familial Monosomy 7 Syndrome ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Jennifer JD Morrissette, Gerald Wertheim, Timothy Olson	Summary Familial monosomy 7 is characterized by early-childhood onset of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). In all reported individuals, the monosomy 7 is believed to be an acquired cytogenetic abnormality within hematopo...	## Diagnosis Familial monosomy 7 Values consistent with laboratory age-related standards for: Red cell macrocytosis Increased hemoglobin F concentration Evidence of bone marrow insufficiency manifesting as any combination of: Thrombocytopenia Neutropenia Anemia Bone marrow aplasia Note: Severe aplastic anemia...	[ "D Aktas, A Koc, K Boduroglu, G Hicsonmez, E Tuncbilek. Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome.. Cancer Genet Cytogenet. 2000;116:44-6", "H Asou, H Matsui, Y Ozaki, A Nagamachi, M Nakamura, D Aki, T Inaba. Identification of a common microdeletion cluster in 7q21.3 subba...	8/7/2010	21/1/2016		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
monosomy7-ov	monosomy7-ov	[ "Monosomy 7 Predisposition Syndromes", "Overview" ]	Monosomy 7 Predisposition Syndromes Overview	Timothy S Olson, Kathryn E Dickerson, Taizo A Nakano, Marcin Wlodarski	Summary The purpose of this overview is to: Describe the Review the Provide an Review the Inform (when possible) Provide a basic view of	## Clinical Characteristics of Monosomy 7 Predisposition Syndromes Monosomy 7 predisposition syndromes are typically characterized by childhood or young-adult onset of bone marrow insufficiency associated with an increased risk for severe cytopenias, variable adaptive immune deficiency, bone marrow aplasia, myelodysp...	[]	10/6/2021			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mopd2	mopd2	[ "Majewski Osteodysplastic Primordial Dwarfism Type II", "MOPDII", "PCNT-Related Microcephalic Osteodysplastic Primordial Dwarfism", "MOPDII", "PCNT-Related Microcephalic Osteodysplastic Primordial Dwarfism", "Majewski Osteodysplastic Primordial Dwarfism Type II", "Pericentrin", "PCNT", "Microcephali...	Microcephalic Osteodysplastic Primordial Dwarfism Type II	Angela Duker, Andrew Jackson, Michael B Bober	Summary Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common form of microcephalic primordial dwarfism, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and ...	## Diagnosis No consensus clinical diagnostic criteria for microcephalic osteodysplastic primordial dwarfism type II (MOPDII) have been published. MOPDII Severe pre- and postnatal growth restriction Extreme microcephaly Skeletal dysplasia Distinctive facial features (see Prominent nose with wide nasal bridge a...	[]	30/12/2021		30/3/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mota	mota	[ "Manitoba Oculotrichoanal (MOTA) Syndrome", "Bifid Nose With or Without Anorectal and Renal Anomalies (BNAR) Syndrome", "FREM1-Related Congenital Anomalies of Kidney and Urinary Tract (CAKUT)", "FRAS1-related extracellular matrix protein 1", "FREM1", "FREM1 Autosomal Recessive Disorders" ]		Chumei Li, Anne Slavotinek	Summary MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and cor...	Manitoba oculotrichoanal (MOTA) syndrome Bifid nose with or without anorectal and renal anomalies (BNAR) syndrome Nonsyndromic metopic craniosynostosis (OMIM • Manitoba oculotrichoanal (MOTA) syndrome • Bifid nose with or without anorectal and renal anomalies (BNAR) syndrome ## Diagnosis No consensus clinical dia...	[]	9/7/2008	1/5/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mpd1	mpd1	[ "Laing Early-Onset Distal Myopathy", "Laing Early-Onset Distal Myopathy", "Myosin-7", "MYH7", "Laing Distal Myopathy" ]	Laing Distal Myopathy	Phillipa Lamont, Nigel G Laing	Summary Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and...	## Diagnosis No consensus clinical diagnostic criteria for Laing distal myopathy have been published. Laing distal myopathy The diagnosis of Laing distal myopathy Note: Identification of a heterozygous Because the phenotype of Laing distal myopathy can be indistinguishable from many other inherited disorders w...	[ "M Achal, AS Trujillo, GC Melkani, GP Farman, K Ocorr, MC Viswanathan, G Kaushik, CS Newhard, BM Glasheen, A Melkani, JA Suggs, JR Moore, DM Swank, R Bodmer, A Cammarato, SI Bernstein. A restrictive cardiomyopathy mutation in an invariant proline at the myosin head/rod junction enhances head flexibility and functio...	17/10/2006	4/2/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mpgn	mpgn	[ "C3G", "Glomerulonephritis with Dominant C3", "Glomerulonephritis with Dominant C3", "C3G", "Complement C3", "Complement factor B", "Complement factor H", "Complement factor H-related protein 1", "Complement factor H-related protein 5", "Complement factor I", "Diacylglycerol kinase epsilon", "...	C3 Glomerulopathy	Bertha Martín, Richard JH Smith	Summary C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a media...	## Diagnosis C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface); it is rarely inherited in a simple mendelian fashion. C3G Hematuria Proteinuria Hematuria and ...	[ "MA Abrera-Abeleda, C Nishimura, K Frees, M Jones, T Maga, LM Katz, Y Zhang, RJH Smith. Allele variants of complement genes associated with dense deposit disease.. J Am Soc Nephrol. 2011;22:1551-9", "MA Abrera-Abeleda, C Nishimura, JL Smith, S Sethi, JL McRae, BF Murphy, G Silvestri, C Skerka, M Józsi, PF Zipfel,...	20/7/2007	5/4/2018	2/1/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mpph	mpph	[ "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome", "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome", "G1/S-specific cyclin-D2", "Phosphatidylinositol 3-kinase regulatory subunit beta", "RAC-gamma serine/threonine-protein kinase", "AKT3", "CCND2", "PIK3R2", "MPPH Sy...	MPPH Syndrome	Ghayda Mirzaa	Summary MPPH ( The clinical diagnosis of MPPH syndrome can be established in individuals with the two core features: megalencephaly and polymicrogyria (PMG). The molecular diagnosis of MPPH syndrome is established in a proband with some of the suggestive clinical and imaging features by identification of a heterozygous...	## Diagnosis MPPH syndrome Postaxial polydactyly of one or more extremities Hypotonia Early-onset epilepsy Intellectual disability Oromotor dysfunction (including speech/swallowing difficulties, excessive drooling, expressive speech delays) Progressive ventriculomegaly leading to hydrocephalus Cerebellar to...	[ "D Alcantara, AE Timms, K Gripp, L Baker, K Park, S Collins, C Cheng, F Stewart, SG Mehta, A Saggar, L Sztriha, M Zombor, O Caluseriu, R Mesterman, MI Van Allen, A Jacquinet, S Ygberg, JA Bernstein, AM Wenger, H Guturu, G Bejerano, N Gomez-Ospina, A Lehman, E Alfei, C Pantaleoni, V Conti, R Guerrini, U Moog, JM Gra...	17/11/2016	28/7/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mps1	mps1	[ "Alpha-L-Iduronidase Deficiency", "IDUA Deficiency", "MPS I", "Alpha-L-Iduronidase Deficiency", "IDUA Deficiency", "MPS I", "Severe MPS I (Hurler Syndrome)", "Attenuated MPS I (Hurler-Scheie Syndrome / Scheie Syndrome)", "Alpha-L-iduronidase", "IDUA", "Mucopolysaccharidosis Type I" ]	Mucopolysaccharidosis Type I	Lorne A Clarke	Summary Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable ...	Severe MPS I (Hurler syndrome) Attenuated MPS I (Hurler-Scheie syndrome / Scheie syndrome) For synonyms and outdated names see • Severe MPS I (Hurler syndrome) • Attenuated MPS I (Hurler-Scheie syndrome / Scheie syndrome) ## Diagnosis Note: The approach to NBS for mucopolysaccharidosis type I (MPS I) is currently...	[]	31/10/2002	25/2/2021	11/4/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mps3	mps3	[ "MPS III", "Sanfilippo Syndrome", "Sanfilippo Syndrome", "MPS III", "MPS IIIB", "MPS IIIC", "MPS IIID", "MPS IIIA", "Alpha-N-acetylglucosaminidase", "Heparan-alpha-glucosaminide N-acetyltransferase", "N-acetylglucosamine-6-sulfatase", "N-sulphoglucosamine sulphohydrolase", "GNS", "HGSNAT",...	Mucopolysaccharidosis Type III	Victoria F Wagner, Hope Northrup	Summary Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral...	MPS = mucopolysaccharidosis See ## Diagnosis Formal diagnostic criteria for mucopolysaccharidosis type III (MPS III) have not been established. MPS III Language and motor delays Behavioral problems including hyperactivity and aggressive or defiant behaviors Sleep disturbances Intellectual disability Prog...	[ "F Andrade, L Aldámiz-Echevarría, M Llarena, ML Couce. Sanfilippo syndrome: Overall review.. Pediatr Int. 2015;57:331-8", "EG Berger-Plantinga, JA Vanneste, JE Groener, MJ van Schooneveld. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters.. J Neurol. 2004;251:479-81",...	19/9/2019			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mps4a	mps4a	[ "Morquio A Disease", "Morquio Syndrome Type A", "MPS IVA", "MPS IVA", "Morquio Syndrome Type A", "Morquio A Disease", "N-acetylgalactosamine-6-sulfatase", "GALNS", "Mucopolysaccharidosis Type IVA" ]	Mucopolysaccharidosis Type IVA	Debra S Regier, Matthew Oetgen, Pranoot Tanpaiboon	Summary The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between a...	## Diagnosis Mucopolysaccharidosis IVA (MPS IVA) The majority of affected individuals do not have distinctive clinical findings at birth. However, some features may be present at birth including prominent forehead, pectus carinatum, kyphosis, and abnormal spine radiograph (see History of adenoidectomy, tonsillecto...	[]	11/7/2013	17/6/2021	13/3/2014	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mps7	mps7	[ "Beta-Glucuronidase Deficiency", "MPS7", "Sly Syndrome", "Beta-Glucuronidase Deficiency", "Sly Syndrome", "MPS7", "Beta-glucuronidase", "GUSB", "Mucopolysaccharidosis Type VII" ]	Mucopolysaccharidosis Type VII	Angela Sun, Raymond Wang	Summary Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and characteristic musculoskeletal features (e.g., short neck, short-trunk short stature, p...	## Diagnosis Formal diagnostic criteria for mucopolysaccharidosis type VII (MPS VII) have not been established. MPS VII Fetal demise / neonatal mortality Nonimmune hydrops fetalis (Note: Presence of hydrops does not necessarily predict subsequent severity of disease in surviving neonates.) Cholestatic jaundice...	[]	4/1/2024			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mpv17-mtdep	mpv17-mtdep	[ "Mitochondrial DNA Depletion Syndrome 6 (MTDPS6), Hepatocerebral Type", "MPV17 Deficiency", "MPV17 Hepatocerebral Mitochondrial DNA Depletion Syndrome", "Mitochondrial DNA Depletion Syndrome 6 (MTDPS6), Hepatocerebral Type", "MPV17 Deficiency", "MPV17 Hepatocerebral Mitochondrial DNA Depletion Syndrome", ...		Ayman W El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Fernando Scaglia, William J Craigen, Lee-Jun C Wong	Summary Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feed...	For other genetic causes of these phenotypes see See also ## Diagnosis Hepatic Liver dysfunction or failure Cholestasis and steatosis Hepatomegaly Neurologic Developmental delay Hypotonia Microcephaly Motor and sensory peripheral neuropathy Gastrointestinal Gastrointestinal dysmotility Feeding difficult...	[ "F Al-Jasmi, HS Penefsky, A-K Souid. The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics.. Mol Genet Metab. 2011;104:529-36", "A AlSaman, H Tomoum, F Invernizzi, M Zeviani. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17...	17/5/2012	17/5/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mss	mss	[ "Nucleotide exchange factor SIL1", "SIL1", "Marinesco-Sjögren Syndrome" ]	Marinesco-Sjögren Syndrome	Anna-Kaisa Anttonen	Summary Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, a...	## Diagnosis No consensus clinical diagnostic criteria for Marinesco-Sjögren syndrome (MSS) have been published. MSS Cerebellar ataxia, dysarthria, and nystagmus Early-onset (not necessarily congenital) cataracts Muscle weakness and hypotonia Psychomotor delay Hypergonadotropic hypogonadism (i.e., primary gona...	[]	29/11/2006	3/10/2024	7/10/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mstn	mstn	[ "Growth/differentiation factor 8", "MSTN", "Myostatin-Related Muscle Hypertrophy" ]	Myostatin-Related Muscle Hypertrophy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Kathryn R Wagner, Julie S Cohen	Summary Myostatin-related muscle hypertrophy is characterized by reduced subcutaneous fat pad thickness and increased muscle size in individuals with normal or increased muscle strength. Both heterozygotes and homozygotes for a causative variant in Skeletal muscle size in an individual with myostatin-related muscle hy...	## Diagnosis The diagnosis of myostatin-related muscle hypertrophy is established by clinical findings of reduced subcutaneous fat pad thickness and increased muscle size in individuals with normal or increased muscle strength and an Skeletal muscle size can be measured by ultrasound, DEXA, or MRI. It is expected to ...	[ "RE Ferrell, V Conte, EC Lawrence, SM Roth, JM Hagberg, BF Hurley. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes.. Genomics 1999;62:203-7", "L Grobet, LJ Martin, D Poncelet, D Pirottin, B Brouwers, J Riquet, A Schoeberlein, S Dunner, F Ménissi...	5/10/2005	3/7/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
msud	msud	[ "BCKD Deficiency", "Branched-Chain Ketoacid Dehydrogenase Deficiency", "Maple Syrup Disease", "MSUD", "BCKD Deficiency", "Branched-Chain Ketoacid Dehydrogenase Deficiency", "MSUD", "Maple Syrup Disease", "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial", "2-oxoisovalerate dehydrogenase...	Maple Syrup Urine Disease	Kevin A Strauss, Erik G Puffenberger, Vincent J Carson	Summary Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: Individuals with intermediate MSUD have partial branched-chain alpha-ketoacid dehydrogenase deficiency that mani...	## Diagnosis Maple syrup urine disease (MSUD) is caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKD), the second enzymatic step in the degradative pathway of the branched-chain amino acids (BCAAs), which includes leucine, isoleucine, and valine. NBS for MSUD is primarily b...	[]	30/1/2006	23/4/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
msx2	msx2	[ "Symmetric Parietal Foramina", "Symmetric Parietal Foramina", "Homeobox protein aristaless-like 4", "Homeobox protein MSX-2", "ALX4", "MSX2", "Enlarged Parietal Foramina" ]	Enlarged Parietal Foramina	Lampros A Mavrogiannis, Andrew OM Wilkie	Summary Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and ...	## Diagnosis No consensus clinical diagnostic criteria for enlarged parietal foramina have been published. In practice, confounding with minute parietal foramina, which are normal anatomic variations, is very unlikely given the size, location, and natural history of the defects, as well as the positive family history....	[]	30/3/2004	26/6/2025	26/5/2004	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mt-deafness	mt-deafness	[ "Not applicable", "MT-RNR1", "MT-TS1", "Nonsyndromic Hearing Loss and Deafness, Mitochondrial" ]	Nonsyndromic Hearing Loss and Deafness, Mitochondrial	Shin-ichi Usami, Shin-ya Nishio	Summary Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in Pathogenic variants in The diagnosis of mitochondrial nonsyndromic hearing loss and deafness is established in a proband with hearing loss and identif...	## Diagnosis Mitochondrial nonsyndromic hearing loss and deafness Moderate-to-profound hearing loss Hearing loss graded by level of severity: Mild (26-40 dB) Moderate (41-55 dB) Moderately severe (56-70 dB) Severe (71-90 dB) Profound (90 dB) Hearing is assessed by a variety of methods; see Mild-to-moderate hi...	[]	22/10/2004	14/6/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mt-mpan	mt-mpan	[ "Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)", "Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)", "Protein C19orf12", "C19orf12", "Mitochondrial Membrane Protein-Associated Neurodegeneration" ]	Mitochondrial Membrane Protein-Associated Neurodegeneration	Allison Gregory, Thomas Klopstock, Tomasz Kmiec, Penelope Hogarth, Susan J Hayflick	Summary Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, i...	## Diagnosis Mitochondrial membrane protein-associated neurodegeneration (MPAN) Onset in childhood to early adulthood with slow progression and survival well into adulthood Cognitive decline progressing to severe dementia Prominent neuropsychiatric abnormalities including emotional lability, depression, anxiety, im...	[ "N Al Macki, I Rashdi. A novel deletion mutation of exon 2 of the C19orf12 gene in an Omani family with mitochondrial membrane protein-associated neurodegeneration (MPAN).. Oman Med J. 2017;32:66-8", "E Bayram, E Peker, S Metzger, M Akbostanct. Myoclonus, hydrocephalus in mitochondrial protein-associated neurodeg...	27/2/2014	4/3/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mt-overview	mt-overview	[ "Mitochondrial Disorders", "Chorea and Dementia", "Diabetes and Hearing Loss", "Infantile Myopathy and Lactic Acidosis (Fatal and Non-Fatal Forms)", "Leber Hereditary Optic Neuropathy", "MELAS", "MERRF", "Single Large-Scale Mitochondrial DNA Deletion Syndromes", "Mitochondrial DNA-Associated Leigh S...	Primary Mitochondrial Disorders Overview	Patrick F Chinnery	Summary The purpose of this overview is to: Describe the Provide Identify Inform	## Clinical Characteristics of Mitochondrial Disorders Primary mitochondrial disorders are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. The mitochondrial respiratory chain is the essential final common pathway for aerobic metabolism; tissu...	[]	8/6/2000	29/7/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mtdna-md-ov	mtdna-md-ov	[ "Mitochondrial DNA Maintenance Defects", "Overview" ]	Mitochondrial DNA Maintenance Defects Overview	Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, Fernando Scaglia	Summary This purpose of this overview is to: Describe the Review the genetic Describe the Provide clinical and laboratory Summarize current Inform	## Mitochondrial DNA Maintenance Defects The maintenance of mtDNA is essential to the functioning of the mitochondria and, thus, to meeting the energy needs of all cells. The maintenance of mtDNA requires proteins essential for mtDNA synthesis, for maintenance of the mitochondrial nucleotide pool, and for mediating m...	[]	8/3/2018			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mthfr-homocystinuria	mthfr-homocystinuria	[ "Homocystinuria due to MTHFR Deficiency", "Homocystinuria due to MTHFR Deficiency", "Methylenetetrahydrofolate reductase (NADPH)", "MTHFR", "Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity" ]	Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Muhammad Umair, Majid Alfadhel	Summary Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase (MTHFR) activity can present in the neonatal period, adolescence, or adulthood. Neonatal onset is typically characterized by postnatal microcephaly, developmental delays, feeding difficulties, growth deficiency, seizures, intellectu...	## Diagnosis No consensus clinical diagnostic criteria for homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase (MTHFR) activity have been published. A diagnosis of homocystinuria due to deficiency of N(5,10)-MTHFR activity may be suspected due to an abnormal newborn screening (NBS) result ...	[]	29/5/2025		10/7/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mtm	mtm	[ "Myotubular Myopathy (MTM)", "XLCNM", "X-Linked Centronuclear Myopathy", "XLMTM", "Myotubular Myopathy (MTM)", "XLCNM", "X-Linked Centronuclear Myopathy", "XLMTM", "Myotubularin", "MTM1", "X-Linked Myotubular Myopathy" ]	X-Linked Myotubular Myopathy	James J Dowling, Michael W Lawlor, Soma Das	Summary X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia,...	## Diagnosis The diagnosis of X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), Neonatal hypotonia Neonatal respiratory failure Significant and diffuse muscle weakness Diminished muscle bulk A family history suggestive of X-linked inheritance Length and head circumference >90th cen...	[ "A Al-Hashim, HD Gonorazky, K Amburgey, S Das, JJ Dowling. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.. Neurol Genet. 2017;3", "L Al-Qusairi, N Weiss, A Toussaint, C Berby, N Messaddeq, C Kretz, D Sanoudou, AH Beggs, B Allard, J-L Mandel, V Jacquemond, A B...	25/2/2002	23/8/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
muenke	muenke	[ "Fibroblast growth factor receptor 3", "FGFR3", "Muenke Syndrome" ]	Muenke Syndrome	Paul Kruszka, Myron Rolle, Kristopher T Kahle, Maximilian Muenke	Summary Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral); synostosis of other sutures, all sutures (pan synostosis), or no sutures; or macrocephaly. Bilateral coronal synostosis typically results in brachycephaly, alt...	## Diagnosis Muenke syndrome Facial asymmetry Brachycephaly, turribrachycephaly (a "tower-shaped" skull), or cloverleaf skull Sutural ridging over both (or less commonly one) of the coronal sutures accompanied by: Ipsilaterally: flattening of the forehead, elevation of the superior orbital rim, elevation of the ...	[ "NB Agochukwu, BD Solomon, LJ Benson, M Muenke. Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.. Am J Med Genet A. 2013;161A:453-60", "NB Agochukwu, BD Solomon, M Muenke. Hearing loss in syndromic craniosyn...	10/5/2006	30/3/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
mws	mws	[ "Hirschsprung Disease – Intellectual Disability Syndrome", "Hirschsprung Disease-Intellectual Disability Syndrome", "Zinc finger E-box-binding homeobox 2", "ZEB2", "Classic Mowat-Wilson Syndrome" ]	Classic Mowat-Wilson Syndrome	Margaret P Adam, Jessie Conta, Lora JH Bean	Summary Classic Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for a...	## Diagnosis Formal clinical diagnostic criteria for classic Mowat-Wilson syndrome (MWS) have not been published. However, the facial features are recognizable and, when accompanied by other features of the condition (e.g., Hirschsprung disease and/or chronic constipation, developmental delay / intellectual disability...	[]	28/3/2007	10/4/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myh9	myh9	[ "Epstein Syndrome", "Sebastian Syndrome", "Fechtner Syndrome", "May-Hegglin Anomaly", "Myosin-9", "MYH9", "MYH9-Related Disease (MYH9-RD)" ]		Anna Savoia, Alessandro Pecci	Summary The diagnosis of	In the past, the phenotypes included in ## Diagnosis No consensus clinical diagnostic criteria for Manifestations of thrombocytopenia Easy bruising Spontaneous mucocutaneous bleeding Excessive bleeding after hemostatic challenges (major or minor surgery, deliveries, treatment with antiplatelet drugs) Sensorine...	[ "K Althaus, A. Greinacher. MYH9-related platelet disorders.. Semin Thromb Hemost 2009;35:189-203", "CL Balduini, P Noris, S Belletti, P Spedini, G Gamba. In vitro and in vivo effects of desmopressin on platelet function.. Haematologica. 1999;84:891-6", "R Favier, A DiFeo, N Hezard, M Fabre, P Bedossa, JA Martig...	20/11/2008	18/2/2021	25/6/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myhre	myhre	[ "Myhre-LAPS Syndrome", "Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature (LAPS) Syndrome", "Myhre-LAPS Syndrome", "Mothers against decapentaplegic homolog 4", "SMAD4", "Myhre Syndrome" ]	Myhre Syndrome	Angela E Lin, Nicola Brunetti-Pierri, Mark E Lindsay, Lisa A Schimmenti, Lois J Starr	Summary Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually o...	## Diagnosis No consensus clinical diagnostic criteria for Myhre syndrome have been published. Myhre syndrome Short stature (height is significantly less than predicted mid-parental height) with compact body habitus Characteristic facial features (See Conductive and mixed hearing loss Respiratory difficulties, ...	[]	13/4/2017	12/12/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myo-dystonia	myo-dystonia	[ "Dystonia 11 (DYT11)", "DYT-SGCE", "Dystonia 11 (DYT11)", "DYT-SGCE", "Epsilon-sarcoglycan", "SGCE", "SGCE Myoclonus-Dystonia" ]		Deborah Raymond, Rachel Saunders-Pullman, Laurie Ozelius	Summary The diagnosis of	## Diagnosis Myoclonus isolated or predominating over dystonia Prominence of the motor manifestations in the upper body Absence of truncal dystonia Positive family history Onset before age 18 years Obsessive-compulsive disorder, anxiety-related disorder, or alcohol dependence Spontaneous remission of limb dy...	[ "F Asmus, LE Hjermind, E Dupont, J Wagenstaller, E Haberlandt, M Munz, TM Strom, T Gasser. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.. Brain. 2007;130:2736-45", "F Asmus, F Salih, LE Hjermind, K Ostergaard, M Munz, AA Kühn, E Dupont, A Kupsch, T Gasser. Myoclonus-dys...	21/5/2003	8/8/2019	4/6/2020	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myodef-sda	myodef-sda	[ "Iron-Sulfur Cluster Deficiency Myopathy", "Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase", "Myopathy with Exercise Intolerance, Swedish Type", "Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase", "Myopathy with Exercise Intolerance, Swedish Type", "Iron-Sulfur Cluster ...	Myopathy with Deficiency of ISCU – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Fanny Mochel, Ronald G Haller	Summary Myopathy with deficiency of ISCU, a mitochondrial myopathy, is classically characterized by lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, fatigue, and pain of active muscles; episodes of more profound exercise intolerance associated with rhabdomyolysis, myoglobi...	## Diagnosis Myopathy with deficiency of ISCU (i.e., iron-sulfur cluster assembly enzyme ISCU), a mitochondrial myopathy, Lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, fatigue, and pain of active muscles Episodes of more profound exercise intolerance associated with...	[ "DR Crooks, MC Ghosh, RG Haller, WH Tong, TA Rouault. Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.. Blood 2010;115:860-9", "DR Crooks, SY Jeong, WH Tong, MC Ghosh, H Olivierre, RG Haller, TA Rouault....	31/3/2009	3/3/2016	11/8/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myotonia-c	myotonia-c	[ "Chloride channel protein 1", "CLCN1", "Myotonia Congenita" ]	Myotonia Congenita	Morten Dunø, John Vissing	Summary Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. W...	## Diagnosis No consensus clinical diagnostic criteria for myotonia congenita (sometimes referred to as "chloride channel myotonia") have been published. Myotonia congenita Episodes of muscle stiffness (myotonia) or cramps beginning in early childhood Alleviation of stiffness by brief exercise (known as the "warm...	[]	3/8/2005	25/2/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myotonic-d	myotonic-d	[ "Steinert's Disease", "Steinert's Disease", "DM1", "Myotonin-protein kinase", "DMPK", "Myotonic Dystrophy Type 1" ]	Myotonic Dystrophy Type 1	Thomas D Bird	Summary Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, cl...	## Diagnosis Myotonic dystrophy type 1 (DM1) Muscle weakness, especially of the distal leg, hand, neck, and face Myotonia (sustained muscle contraction), which often manifests as the inability to quickly release a hand grip (grip myotonia) and which can be demonstrated by tapping a muscle (e.g., the thenar muscles) ...	[]	17/9/1999	12/7/2018	14/11/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myotonic-d2	myotonic-d2	[ "Proximal Myotonic Myopathy (PROMM)", "Proximal Myotonic Myopathy (PROMM)", "CCHC-type zinc finger nucleic acid binding protein", "CNBP", "Myotonic Dystrophy Type 2" ]	Myotonic Dystrophy Type 2	Benedikt Schoser	Summary Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myot...	## Diagnosis In 2019, consensus-based care recommendations and recommendations on the molecular diagnosis of myotonic dystrophy type 2 (DM2) were published [ DM2 The diagnosis of DM2 ≤30 uninterrupted CCTG repeats 11-26 CCTG repeats Testing approaches can include Molecular Genetic Testing Used in Myotonic Dyst...	[ "B Udd, G Meola, R Krahe, DG Wansink, G Bassez, W Kress, B Schoser, R Moxley. Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3–5 December 2010, Naarden, The Netherlands.. Neuromuscul Disord. 2011;21:443-50" ]	21/9/2006	19/3/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
myrf-cugs	myrf-cugs	[ "MYRF-Related Cardiac-Urogenital Syndrome", "MYRF-CUGS", "Myelin regulatory factor", "MYRF", "MYRF-Related Cardiac Urogenital Syndrome" ]		Julie D Kaplan, Blythe Stewart, Lev Prasov, Tucker Louise C Pyle	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Ambiguous genitalia, micropenis, hypospadias, and/or cryptorchidism in 46,XY individuals or müllerian anomalies in 46,XX individuals Eye anomalies including high hyperopia and nanophthalmos Congenital heart defects including hypoplastic left heart or scim...	[]	10/11/2022	31/7/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
nad-def	nad-def	[ "Vertebral, Cardiac, Renal, and Limb Defects (VCRL)", "Vertebral, Cardiac, Renal, and Limb Defects (VCRL)", "3-hydroxyanthranilate 3,4-dioxygenase", "Glutamine-dependent NAD(+) synthetase", "Kynureninase", "HAAO", "KYNU", "NADSYN1", "Congenital NAD Deficiency Disorder" ]	Congenital NAD Deficiency Disorder	Paul Mark, Sally Dunwoodie	Summary Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all ...	## Diagnosis No consensus clinical diagnostic criteria for congenital NAD deficiency disorder (CNDD) have been published. However, the spectrum of congenital anomalies may overlap with the clinically described VACTERL association ( CNDD Congenital heart defects affecting: Both the left- and right-sided structures...	[]	27/7/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.