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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
slo | slo | [
"SLOS",
"SLOS",
"7-dehydrocholesterol reductase",
"DHCR7",
"Smith-Lemli-Opitz Syndrome"
] | Smith-Lemli-Opitz Syndrome | Malgorzata JM Nowaczyk, Christopher A Wassif | Summary Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, mo... | ## Diagnosis
Clinical diagnostic criteria for Smith-Lemli-Opitz syndrome (SLOS) have not been established.
Smith-Lemli-Opitz syndrome
Characteristic facial features (narrow forehead, epicanthal folds, ptosis, short mandible with preservation of jaw width, short nose, anteverted nares, and low-set ears)
2-3 syndac... | [] | 13/11/1998 | 30/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sma-xli | sma-xli | [
"SMAX2",
"XL-SMA",
"XL-SMA",
"Ubiquitin-like modifier-activating enzyme 1",
"UBA1",
"Spinal Muscular Atrophy, X-Linked Infantile"
] | Spinal Muscular Atrophy, X-Linked Infantile | Lisa Baumbach-Reardon, JM Hunter, Mary Ellen Ahearn, Miranda Pfautsch | Summary X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Li... | ## Diagnosis
While suggestive diagnostic criteria were proposed by
X-linked infantile spinal muscular atrophy
Congenital hypotonia and areflexia on physical examination
Congenital contractures and/or fractures
Digital contractures at birth. These usually remain throughout the individual's life.
The diagnosis of... | [] | 30/10/2008 | 29/7/2021 | 9/5/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sma | sma | [
"SMA",
"Spinal Muscular Atrophy I",
"Spinal Muscular Atrophy II",
"Spinal Muscular Atrophy 0",
"Spinal Muscular Atrophy III",
"Spinal Muscular Atrophy IV",
"Survival motor neuron protein",
"SMN1",
"SMN2",
"Spinal Muscular Atrophy"
] | Spinal Muscular Atrophy | Thomas W Prior, Meganne E Leach, Erika L Finanger | Summary Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakne... | Spinal muscular atrophy 0
Spinal muscular atrophy I
Spinal muscular atrophy II
Spinal muscular atrophy III
Spinal muscular atrophy IV
For synonyms and outdated names see
Note: This review is restricted to the discussion of
• Spinal muscular atrophy 0
• Spinal muscular atrophy I
• Spinal muscular atrophy II
• ... | [] | 24/2/2000 | 19/9/2024 | 3/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
smdcf | smdcf | [
"Spondylometaphyseal Dysplasia Sutcliffe",
"Spondylometaphyseal Dysplasia Sutcliffe",
"Collagen alpha-1(II) chain",
"Fibronectin",
"COL2A1",
"FN1",
"Spondylometaphyseal Dysplasia, Corner Fracture Type"
] | Spondylometaphyseal Dysplasia, Corner Fracture Type | Jade England, Philippe M Campeau | Summary Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include... | ## Diagnosis
Formal diagnostic criteria for spondylometaphyseal dysplasia, corner fracture type (SMDCF) have not been established.
SMDCF
Mild-to-moderate short stature noted at birth in some individuals with short lower extremities and/or short trunk
Mild-to-severe scoliosis
Genu varum or valgum
Pectus carinatu... | [] | 19/3/2020 | 22/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sms | sms | [
"del(17)(p11.2)",
"del(17)(p11.2)",
"Retinoic acid-induced protein 1",
"RAI1",
"Smith-Magenis Syndrome"
] | Smith-Magenis Syndrome | Ann CM Smith, John Berens, Kerry E Boyd, Christine Brennan, Andrea Gropman, Barbara Haas-Givler, Christopher Vlangos, Rebecca Foster, Rachel Franciskovich, Santhosh Girirajan, Nancy Raitano Lee, Cora Taylor, Sinan Omer Turnacioglu, Sarah H Elsea | Summary Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbances, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure ... | ## Diagnosis
No consensus clinical diagnostic criteria for Smith-Magenis syndrome (SMS) have been published.
A subtly distinctive facial appearance that becomes more evident with age (See
Developmental delay and/or intellectual disability, including early speech delays (expressive delays greater than receptive speec... | [] | 22/10/2001 | 29/5/2025 | 10/3/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
snyder-robinson | snyder-robinson | [
"Spermine Synthase Deficiency",
"Spermine Synthase Deficiency",
"Spermine synthase",
"SMS",
"Snyder-Robinson Syndrome"
] | Snyder-Robinson Syndrome | Charles E Schwartz, Caleb Bupp, Mary Jo Kutler, Angela Peron | Summary Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome characterized by facial dysmorphism, asthenic build, progressive kyphoscoliosis, early-onset osteoporosis, and seizures. To date, only affected males have been reported. Developmental delay usually presents as failure to meet early d... | ## Diagnosis
Formal diagnostic criteria have not been established for Snyder-Robinson syndrome (SRS).
SRS
The diagnosis of SRS
Note: (1) Per ACMG/AMG variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are cons... | [] | 27/6/2013 | 7/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sost | sost | [
"SOST-Related Endosteal Hyperostosis, van Buchem type (van Buchem Disease)",
"SOST-Related Sclerosteosis",
"Sclerostin",
"SOST",
"SOST-Related Sclerosing Bone Dysplasias"
] | Natasha Appelman-Dijkstra, Antoon Van Lierop, Socrates Papapoulos | Summary The major clinical features of The manifestations of van Buchem disease are generally milder than The diagnosis of a | For synonyms and outdated names see
For other genetic causes of this phenotype see
## Diagnosis
Generalized progressive skeletal overgrowth, most pronounced in the skull and mandible, leading to:
Potentially lethal elevation of intracranial pressure in childhood or early adulthood as a result of calvarial overgro... | [] | 4/6/2002 | 1/8/2024 | 10/1/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
sotos | sotos | [
"Histone-lysine N-methyltransferase, H3 lysine-36 specific",
"NSD1",
"Sotos Syndrome"
] | Sotos Syndrome | Sharon Ocansey, Trevor RP Cole, Nazneen Rahman, Katrina Tatton-Brown | Summary Sotos syndrome is characterized by a distinctive facial appearance (broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, tall chin); learning disability (early developmental delay, mild-to-severe intellect... | ## Diagnosis
No consensus clinical diagnostic criteria Sotos syndrome have been published.
Sotos syndrome
Broad, prominent forehead with a dolichocephalic head shape
Sparse frontotemporal hair
Downslanting palpebral fissures
Malar flushing
Long narrow face (particularly bitemporal narrowing)
Tall chin
Note: Fa... | [] | 17/12/2004 | 5/6/2025 | 1/12/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
sox2 | sox2 | [
"Anophthalmia-Esophageal Atresia-Genital Abnormalities (AEG) Syndrome",
"Transcription factor SOX-2",
"SOX2",
"SOX2 Disorder"
] | Kathleen A Williamson, T Michael Yates, David R FitzPatrick | Summary The phenotypic spectrum of The diagnosis of | With the current widespread use of advanced molecular genetic testing, it is apparent that the clinical spectrum associated with
## Diagnosis
Bilateral anophthalmia and/or microphthalmia
Unilateral anophthalmia or microphthalmia
Genital abnormalities. Frequently cryptorchidism and/or micropenis in males (commonly... | [
"PR Blackburn, OF Chacon-Camacho, XR Ortiz-González, M Reyes, GA Lopez-Uriarte, S Zarei, EJ Bhoj, S Perez-Solorzano, RA Vaubel, MI Murphree, J Nava, V Cortes-Gonzalez, JE Parisi, C Villanueva-Mendoza, IG Tirado-Torres, D Li, EW Klee, PN Pichurin, JC Zenteno. Extension of the mutational and clinical spectrum of SOX2... | 23/2/2006 | 30/7/2020 | 7/3/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
spg11 | spg11 | [
"SPG11",
"Spatacsin",
"SPG11",
"Spastic Paraplegia 11"
] | Spastic Paraplegia 11 | Giovanni Stevanin | Summary Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and incre... | ## Diagnosis
Spastic paraplegia 11 (SPG11)
Progressive spasticity and weakness of the lower limbs
Mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline with onset in the first to third decade
Axonal, motor, or sensorimotor peripheral neuropathy (>80% of individu... | [
"M Anheim, C Lagier-Tourenne, G Stevanin, M Fleury, A Durr, IJ Namer, P Denora, A Brice, JL Mandel, M Koenig, C Tranchant. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.. J Neurol. 2009;256:104-8",
"A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, MI Miladi, C Goizet, J Truchetto, S Belal, A ... | 27/3/2008 | 19/12/2019 | 30/10/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
spg15 | spg15 | [
"Hereditary Spastic Paraplegia Type 15",
"HSP-ZFYVE26",
"SPG15",
"ZFYVE26-Related Hereditary Spastic Paraplegia",
"SPG15",
"Hereditary Spastic Paraplegia Type 15",
"HSP-ZFYVE26",
"ZFYVE26-Related Hereditary Spastic Paraplegia",
"Zinc finger FYVE domain-containing protein 26",
"ZFYVE26",
"Spastic... | Spastic Paraplegia 15 | Darius Ebrahimi-Fakhari, Julian E Alecu, Craig Blackstone | Summary Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity... | ## Diagnosis
No consensus clinical diagnostic criteria for spastic paraplegia 15 (SPG15) have been published.
Spastic paraplegia 15 (SPG15)
Spasticity and weakness with progression from a spastic diplegia to a spastic tetraplegia with associated pyramidal signs (Babinski sign, hyperreflexia, ankle clonus)
Learnin... | [
"FMM Araujo, WM Junior, PJ Tomaselli, AV Pimentel, MC Macruz Brito, V Tumas. SPG15: a rare correlation with atypical juvenile parkinsonism responsive to levodopa.. Mov Disord Clin Pract. 2020;7:842-4",
"RW Bohannon, MB Smith. Interrater reliability of a modified Ashworth scale of muscle spasticity.. Phys Ther. 19... | 27/5/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
spg17 | spg17 | [
"Spastic Paraplegia 17",
"Silver Syndrome",
"Distal Hereditary Motor Neuropathy Type V (dHMN-V)",
"Variants of Charcot-Marie-Tooth Disease Type 2",
"Seipin",
"BSCL2",
"BSCL2-Related Neurologic Disorders/Seipinopathy"
] | Daisuke Ito | Summary The spectrum of The diagnosis of a | Distal hereditary motor neuropathy type V (dHMN-V)
Silver syndrome
Variants of Charcot-Marie-Tooth disease type 2
Spastic paraplegia 17
For other genetic causes of these phenotypes see
• Distal hereditary motor neuropathy type V (dHMN-V)
• Silver syndrome
• Variants of Charcot-Marie-Tooth disease type 2
• Spast... | [
"M Auer-Grumbach, WN Loscher, K Wagner, E Petek, E Korner, H Offenbacher, HP Hartung. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.. Brain 2000;123:1612-23",
"M Auer-Grumbach, B Schlotter-Weigel, H Lochmuller, G Strobl-Wildemann... | 6/12/2005 | 24/5/2018 | 7/6/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
spg20 | spg20 | [
"SPART-Related Hereditary Spastic Paraplegia (SPART-HSP)",
"SPG20",
"SPG20",
"SPART-Related Hereditary Spastic Paraplegia (SPART-HSP)",
"Spartin",
"SPART",
"Troyer Syndrome"
] | Troyer Syndrome | Emma Baple, Jacob Day, Allison Newman, Andrew Crosby | Summary Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, pseudobulbar palsy, distal amyotrophy, short stature, and subtle skeletal abnormalities. Most affected children exhibit delays in walking and speech and difficulty in managing oral secretions, followed by increased lower-limb spast... | ## Diagnosis
No consensus clinical diagnostic criteria for Troyer syndrome have been published.
Troyer syndrome
Developmental delay in early infancy / childhood: poor feeding, swallowing difficulties, delayed speech, delayed walking
Childhood-onset spastic paraplegia
Symmetric amyotrophy of the small muscles of ... | [] | 16/11/2004 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
spg3a | spg3a | [
"ATL1-HSP",
"SPG3A",
"SPG3A",
"ATL1-HSP",
"Atlastin-1",
"ATL1",
"Spastic Paraplegia 3A"
] | Spastic Paraplegia 3A | Peter Hedera | Summary Spastic paraplegia 3A (SPG3A; also known as The diagnosis of | ## Diagnosis
Spastic paraplegia 3A (SPG3A; also known as
Early age of onset, from infancy to ten years (average age: 4 years)
Progressive bilateral and mostly symmetric lower-extremity weakness and spasticity resulting from axonal degeneration of the corticospinal tracts
Diminished vibration sense caused by impai... | [] | 21/9/2010 | 18/6/2020 | 9/2/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
spg4 | spg4 | [
"SPAST-HSP",
"SPG4",
"SPG4",
"SPAST-HSP",
"Spastin",
"SPAST",
"Spastic Paraplegia 4"
] | Spastic Paraplegia 4 | Livia Parodi, Siri Lynne Rydning, Chantal Tallaksen, Alexandra Durr | Summary Spastic paraplegia 4 (SPG4; also known as The diagnosis of | ## Diagnosis
Spastic paraplegia 4 (SPG4; also known as
Characteristic clinical symptoms of insidiously progressive bilateral leg stiffness affecting gait with or without spasticity at rest and mild proximal weakness, often accompanied by urinary urgency
Neurologic examination demonstrating corticospinal tract defici... | [] | 17/4/2003 | 13/6/2019 | 23/4/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
spg7 | spg7 | [
"Hereditary Spastic Paraplegia, Paraplegin Type",
"Hereditary Spastic Paraplegia, Paraplegin Type",
"SPG7",
"Mitochondrial inner membrane m-AAA protease component paraplegin",
"SPG7",
"Spastic Paraplegia 7"
] | Spastic Paraplegia 7 | Giorgio Casari, Roberto Marconi | Summary Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral leg weakness and spasticity. Most affected individuals have decreased vibration sense and cerebellar signs. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional... | ## Diagnosis
Spastic paraplegia 7 (SPG7)
Insidiously progressive bilateral leg weakness
Spasticity
Decreased vibratory sense
Cerebellar signs
Neurologic examination demonstrating EITHER of the following:
A pure phenotype of spastic paraplegia with hyperreflexia, extensor plantar responses, and mildly impaired vi... | [
"NA Almontashiri, HH Chen, RJ Mailloux, T Tatsuta, AC Teng, AB Mahmoud, T Ho, NA Stewart, P Rippstein, ME Harper, R Roberts, C Willenborg, J Erdmann, A Pastore, HM McBride, T Langer, AF Stewart. SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with m... | 24/8/2006 | 25/10/2018 | 25/2/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
spg8 | spg8 | [
"SPG8",
"SPG8",
"WASH complex subunit 5",
"WASHC5",
"Spastic Paraplegia 8"
] | Spastic Paraplegia 8 | Inge A Meijer, Paul N Valdmanis, Guy A Rouleau | Summary Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings). Some affected individuals have urinary urgency that usually becomes apparent at the sa... | ## Diagnosis
Spastic paraplegia 8 (SPG8)
Onset in the 20s and 30s (range: age 20-60 years)
Slowly progressive "pure" spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia, spasticity, and occasionally clonus without other neurologic findings)
Mild distal decreased vibration sense
U... | [] | 13/8/2008 | 21/5/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
spondylocostal-d | spondylocostal-d | [
"Costovertebral Dysplasia",
"Spondylocostal Dysplasia",
"Costovertebral Dysplasia",
"Spondylocostal Dysplasia",
"Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe",
"Delta-like protein 3",
"Mesoderm posterior protein 2",
"Protein ripply2",
"T-box transcription factor TBX6",
"Transcription fa... | Spondylocostal Dysostosis, Autosomal Recessive | Peter D Turnpenny, Melissa Sloman, Sally Dunwoodie | Summary Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, ... | ## Diagnosis
Spondylocostal dysostosis (SCDO)
No major asymmetry to the shape of the thorax
The diagnosis of autosomal recessive SCDO
Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are c... | [] | 25/8/2009 | 17/8/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
spr-def | spr-def | [
"Dopa-Responsive Hypersomnia",
"DYT-SPR",
"SPR Deficiency",
"SPR Deficiency",
"Dopa-Responsive Hypersomnia",
"DYT-SPR",
"Sepiapterin reductase",
"SPR",
"Sepiapterin Reductase Deficiency"
] | Sepiapterin Reductase Deficiency | Jennifer Friedman | Summary The phenotypic spectrum of sepiapterin reductase deficiency (SRD), which ranges from significant motor and cognitive deficits to only minimal findings, has not been completely elucidated. Clinical features in the majority of affected individuals include motor and speech delay, axial hypotonia, dystonia, weaknes... | ## Diagnosis
No formal diagnostic criteria for sepiapterin reductase deficiency (SRD) have been published. A diagnostic algorithm is presented in a recent review [
Sepiapterin reductase deficiency (SRD) should be suspected in individuals with characteristic clinical findings. The phenotypic spectrum is broad and sugg... | [] | 1/7/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sptbn4 | sptbn4 | [
"Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (NEDHND)",
"Neurodevelopmental Disorder With Hypotonia, Neuropathy, and Deafness (NEDHND)",
"Spectrin beta chain, non-erythrocytic 4",
"SPTBN4",
"SPTBN4 Disorder"
] | Xilma Ortiz-Gonzalez, Klaas Wierenga | Summary The diagnosis of | ## Diagnosis
Formal clinical diagnostic criteria for
Severe-to-profound developmental delay / intellectual disability
Congenital hypotonia
Neuromuscular weakness
Loss of deep tendon reflexes indicative of neuropathy
Epilepsy, including both focal and/or generalized seizures (infantile spasms)
Cortical visual i... | [] | 16/7/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
srns-ov | srns-ov | [
"Genetic Steroid-Resistant Nephrotic Syndrome",
"Overview"
] | Genetic Steroid-Resistant Nephrotic Syndrome Overview | Beata S Lipska-Ziętkiewicz | Summary The purpose of this overview is to: Describe the Review the Provide an Review Review Inform | ## Clinical Characteristics of Genetic Steroid-Resistant Nephrotic Syndrome
The initial manifestation of nephrotic syndrome is severe proteinuria defined as presence of the following [
Urine protein/creatinine ratio (UPCR) ≥200 mg/mmol (2 mg/mg) in the first morning void; OR 24-h urine sample ≥1000 mg/m
Hypoalbumin... | [] | 26/8/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ss-def | ss-def | [
"Squalene synthase",
"FDFT1",
"Squalene Synthase Deficiency"
] | Squalene Synthase Deficiency | David Coman, Lisenka Vissers, Hans Waterham, John Christodoulou, Ron A Wevers, James Pitt | Summary Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain ... | ## Diagnosis
Formal clinical diagnostic criteria for squalene synthase deficiency (SQSD) have not been established. However, the urine metabolic profile with increased saturated and unsaturated branched-chain dicarboxylic acids and glucuronides derived from farnesol in the appropriate clinical setting is specific for ... | [] | 6/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
ssadh | ssadh | [
"4-Hydroxybutyric Aciduria",
"Gamma-Hydroxybutyric Aciduria",
"SSADH Deficiency",
"4-Hydroxybutyric Aciduria",
"Gamma-Hydroxybutyric Aciduria",
"SSADH Deficiency",
"Succinate-semialdehyde dehydrogenase, mitochondrial",
"ALDH5A1",
"Succinic Semialdehyde Dehydrogenase Deficiency"
] | Succinic Semialdehyde Dehydrogenase Deficiency | Itay Tokatly Latzer, Phillip L Pearl, Jean-Baptiste Roullet | Summary Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by a relatively non-progressive encephalopathy typically presenting with hypotonia and delayed acquisition of motor and language developmental milestones in the first two years of life. Common clinical features include an almost universal i... | ## Diagnosis
Succinic semialdehyde dehydrogenase (SSADH) deficiency
Developmental delay and/or cognitive deficiency, often with prominent expressive language deficit
Neurobehavioral/psychiatric manifestations, such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and behavioral issues, includin... | [] | 5/5/2004 | 9/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
stac3-dis | stac3-dis | [
"Native American Myopathy",
"Native American Myopathy",
"SH3 and cysteine-rich domain-containing protein 3",
"STAC3",
"STAC3 Disorder"
] | Bryn D Webb, Irini Manoli, Ethylin Wang Jabs | Summary The diagnosis of Occupational and physical therapy needs regarding range of motion and mobility Use of adaptive devices for mobility and activities of daily living Feeding difficulties Speech delays Scoliosis Respiratory insufficiency Due to the medical comorbidities in | ## Diagnosis
Formal diagnostic criteria for
Congenital weakness
Myopathic facies, characterized by ptosis, inability to raise corners of mouth, and (in some individuals) hollowed-out cheeks from loss of facial musculature, which may cause an open-mouthed expressionless appearance with downturned corners of the m... | [
"H Alrohaif, A Töpf, T Evangelista, M Lek, D McArthur, H Lochmüller. Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.. Neurol Genet. 2018;4",
"AG Bailey, EC Bloch. Malignant hyperthermia in a three-month-old American Indian infant.. Anesth Analg. 1987;66:1043-5",... | 20/6/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
stickler | stickler | [
"Arthroophthalmopathy",
"Arthroophthalmopathy",
"Collagen alpha-1(II) chain",
"Collagen alpha-1(IX) chain",
"Collagen alpha-1(XI) chain",
"Collagen alpha-2(IX) chain",
"Collagen alpha-2(XI) chain",
"Collagen alpha-3(IX) chain",
"COL11A1",
"COL11A2",
"COL2A1",
"COL9A1",
"COL9A2",
"COL9A3",
... | Stickler Syndrome | Geert Mortier | Summary Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative... | ## Diagnosis
No consensus clinical diagnostic criteria for Stickler syndrome have been published.
Stickler syndrome
Cleft palate (open cleft, submucous cleft, or bifid uvula)
Characteristic facial features including malar hypoplasia, broad or flat nasal bridge, and micro- or retrognathia
Ocular manifestations in... | [] | 9/6/2000 | 7/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
strc-hearing-loss | strc-hearing-loss | [
"STRC-Related Sensorineural Hearing Loss",
"STRC-Related Sensorineural Hearing Loss",
"STRC-Related Nonsyndromic Sensorineural Hearing Loss",
"STRC-Related Sensorineural Hearing Loss With Decreased Fertility in Males",
"Cation channel sperm-associated protein 2",
"Stereocilin",
"CATSPER2",
"STRC",
"... | Shelby Redfield, A Eliot Shearer | Summary Males with biallelic contiguous gene deletions involving The diagnosis of When males with biallelic contiguous gene deletions involving | For synonyms and outdated names, see
For other genetic causes of this phenotype, see
## Diagnosis
The diagnosis of
Universal newborn hearing screening (NBHS) uses physiologic screening, either otoacoustic emissions (OAEs), which measure the response of the cochlea to auditory stimuli, or automated auditory brain st... | [] | 14/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
stromme | stromme | [
"Apple Peel Syndrome with Microcephaly and Ocular Anomalies",
"Jejunal Atresia with Microcephaly and Ocular Anomalies",
"Apple Peel Syndrome with Microcephaly and Ocular Anomalies",
"Jejunal Atresia with Microcephaly and Ocular Anomalies",
"Centromere protein F",
"CENPF",
"Strømme Syndrome"
] | Strømme Syndrome | Stephanie KL Ho, Lai Ting Leung, Ho-ming Luk, Ivan FM Lo | Summary Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variabl... | ## Diagnosis
No consensus clinical diagnostic criteria for Strømme syndrome have been published.
Strømme syndrome
Small bowel intestinal atresia, in particular apple peel intestinal atresia
Microcephaly
Mild-to-moderate developmental delay and/or intellectual disability
Various ocular anomalies including anteri... | [
"N Al-Dewik, H Mohd, M Al-Mureikhi, R Ali, F Al-Mesaifri, L Mahmoud, N Shahbeck, K El-Akouri, M Almulla, R Al Sulaiman, S Musa, AA Al-Marri, G Richard, J Juusola, BD Solomon, FS Alkuraya, T Ben-Omran. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: the Qatari experience..... | 10/11/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
stsl | stsl | [
"Beta-Sitosterolemia",
"Phytosterolæmia",
"Phytosterolemia",
"Sitosterolæmia",
"Beta-Sitosterolemia",
"Phytosterolæmia",
"Phytosterolemia",
"Sitosterolæmia",
"ATP-binding cassette sub-family G member 5",
"ATP-binding cassette sub-family G member 8",
"ABCG5",
"ABCG8",
"Sitosterolemia"
] | Sitosterolemia | Semone B Myrie, Robert D Steiner, David Mymin | Summary Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (... | ## Diagnosis
Formal diagnostic criteria for sitosterolemia have not been established.
Sitosterolemia
Hypercholesterolemia (especially in children) that shows unexpected significant response (i.e., lowering of plasma cholesterol level) to low-fat diet modification (e.g., low saturated fat/low cholesterol/low plant-de... | [] | 4/4/2013 | 16/7/2020 | 17/5/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
stxbp1-ee | stxbp1-ee | [
"Early-Infantile Epileptic Encephalopathy 4 (EIEE4)",
"STXBP1 Epileptic Encephalopathy",
"STXBP1-Related Developmental and Epileptic Encephalopathy (STXBP1-DEE)",
"STXBP1 Epileptic Encephalopathy",
"Early-Infantile Epileptic Encephalopathy 4 (EIEE4)",
"STXBP1-Related Developmental and Epileptic Encephalop... | Saadet Mercimek-Andrews | Summary The diagnosis is established in a proband with a heterozygous | ## Diagnosis
Median age of onset six weeks (range: 1 day to 13 years)
EEG characterized by focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves
Infantile spasms
Generalized tonic-clonic, clonic, or tonic seizures
Myoclonic seizures
Atonic seizures
Absence seizures
... | [] | 1/12/2016 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sucla2-def | sucla2-def | [
"SUCLA2 Deficiency",
"SUCLA2 Deficiency",
"Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial",
"SUCLA2",
"SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria"
] | Ayman W El-Hattab, Fernando Scaglia | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Hypotonia, axial or generalized
Dystonia
Muscle atrophy
Feeding difficulties
Growth deficiency affecting both weight gain and linear growth
Basal ganglia hyperintensities
Cerebral atrophy
Leukoencephalopathy
Elevation of methylmalonic acid... | [] | 26/5/2009 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
suclg1-mtddepl | suclg1-mtddepl | [
"SUCLG1 Deficiency",
"SUCLG1-Related Succinyl-CoA Ligase Deficiency",
"SUCLG1 Deficiency",
"SUCLG1-Related Succinyl-CoA Ligase Deficiency",
"Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial",
"SUCLG1",
"SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with... | Ayman W El-Hattab, Fernando Scaglia | Summary The diagnosis of | ## Diagnosis
Present in >50%:
Developmental delay and cognitive impairment
Hypotonia
Muscle atrophy
Feeding difficulties
Present in 20%-50%:
Growth retardation / failure to thrive
Hepatopathy
Sensorineural hearing impairment
Dystonia
Hypertonia
Present in <20%:
Hypertrophic cardiomyopathy
Recurrent resp... | [
"Y Cámara, E González-Vioque, M Scarpelli, J Torres-Torronteras, A Caballero, M Hirano, R Martí. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.. Hum Mol Genet. 2014;23:2459-67",
"R Carrozzo, D Verrigni, M Rasmussen, ... | 30/3/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
syne1ca-ar | syne1ca-ar | [
"SYNE1 Cerebellar Ataxia (Autosomal Recessive Cerebellar Ataxia 1 [ARCA1])",
"SYNE1-Deficient Arthrogryposis Multiplex Congenita (AMC)",
"Nesprin-1",
"SYNE1",
"SYNE1 Deficiency"
] | SYNE1 Deficiency | Marie Beaudin, Pierre-Luc Gamache, François Gros-Louis, Nicolas Dupré | Summary SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar ataxia at the mild end to arthrogryposis multiplex congenita (AMC) at the severe end. SYNE1-deficient cerebellar ataxia, the most commonly recognized manifestation of SYNE1 deficiency to date, is a slowly progressiv... | SYNE1-deficient arthrogryposis multiplex congenita (AMC)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• SYNE1-deficient arthrogryposis multiplex congenita (AMC)
## Diagnosis
SYNE1 deficiency comprises a phenotypic spectrum that ranges from autosomal recessive cerebellar atax... | [
"H Algahtani, Y Marzouk, R Algahtani, S Salman, B Shirah. Autosomal recessive cerebellar ataxia type 1 mimicking multiple sclerosis: a report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.. J Neurol Sci. 2017;372:97-100",
"R Attali, N Warwar, A Israel, I Gurt, E McNally, M Puckelwartz, B G... | 23/2/2007 | 6/12/2018 | 13/10/2011 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
syngap1-id | syngap1-id | [
"SYNGAP1-Related Developmental and Epileptic Encephalopathy",
"SYNGAP1-Related Developmental and Epileptic Encephalopathy",
"Ras/Rap GTPase-activating protein SynGAP",
"SYNGAP1",
"SYNGAP1-Related Intellectual Disability"
] | J Lloyd Holder, Fadi F Hamdan, Jacques L Michaud | Summary The diagnosis of | ## Diagnosis
No formal diagnostic criteria have been published for
Generalized epilepsy;
and/or
Autism spectrum disorder (ASD).
The diagnosis of
A heterozygous pathogenic (or likely pathogenic) variant in
or
A deletion of 6p21.3 (~11%).
Note: (1) Per American College of Medical Genetics and Genomics / Associat... | [] | 21/2/2019 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
sys-h | sys-h | [
"Inherited Systemic Hyalinosis",
"ANTXR2-Related Hyaline Fibromatosis Syndrome",
"Inherited Systemic Hyalinosis",
"ANTXR2-Related Hyaline Fibromatosis Syndrome",
"Anthrax toxin receptor 2",
"ANTXR2",
"Hyaline Fibromatosis Syndrome"
] | Hyaline Fibromatosis Syndrome | Joseph TC Shieh, H Eugene Hoyme, Laura T Arbour | Summary Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches ove... | ## Diagnosis
Hyaline fibromatosis syndrome (HFS)
Serum albumin may be low.
Normal or slightly elevated ESR, anemia, and/or thrombocytosis
Immunoglobulin levels may be low and cellular immune responses depressed.
CD3 and CD4 lymphocyte subsets and ANA are unremarkable.
Note: This finding may not be evident... | [
"K Alreheili, A AlMehaidib, K Alsaleem, M Banemi, W Aldekhail, SM Al-Mayouf. Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.. Ann Saudi Med. 2012;32:206-8",
"J Bürgi, B Kunz, L Abrami, J Deuquet, A Piersigilli, S Scholl-Bürgi, E Lau... | 27/2/2008 | 23/7/2020 | 11/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
taa | taa | [
"TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections",
"TGFBR2-Related Thoracic Aortic Aneurysms and Aortic Dissections",
"ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections",
"MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections",
"FBN1-Related Thoracic Aortic Aneurysms an... | Heritable Thoracic Aortic Disease Overview | Dianna M Milewicz, Alana C Cecchi | Summary The purpose of this overview is to: Define the Review the Provide a strategy for Review Inform | ## Clinical Characteristics of Thoracic Aortic Disease
A
To evaluate for a thoracic aortic aneurysm, the aortic diameter is measured (perpendicular to the axis of blood flow) by echocardiography, CT, or MRI at reproducible anatomic locations. Measurements of aortic diameters obtained from transthoracic echocardiogra... | [] | 13/2/2003 | 4/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tangier | tangier | [
"Analphalipoproteinemia",
"Familial High-Density Lipoprotein Deficiency 1",
"Primary Hypoalphalipoproteinemia 1",
"Primary Hypoalphalipoproteinemia 1",
"Familial High-Density Lipoprotein Deficiency 1",
"Analphalipoproteinemia",
"Phospholipid-transporting ATPase ABCA1",
"ABCA1",
"Tangier Disease"
] | Tangier Disease | John R Burnett, Amanda J Hooper, Sally PA McCormick, Robert A Hegele | Summary Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yello... | ## Diagnosis
Formal clinical diagnostic criteria for Tangier disease have not been published.
Tangier disease
Enlarged tonsils that are yellow and/or orange in children and young adults
Peripheral neuropathy
Hepatomegaly and/or splenomegaly
Corneal opacities
Coronary artery disease
Lymphadenopathy
Blood diso... | [
"M Bodzioch, E Orsó, J Klucken, T Langmann, A Böttcher, W Diederich, W Drobnik, S Barlage, C Büchler, M Porsch-Ozcürümez, WE Kaminski, HW Hahmann, K Oette, G Rothe, C Aslanidis, KJ Lackner, G Schmitz. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.. Nat Genet. 1999;22:347-51",
... | 21/11/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tango2-mea | tango2-mea | [
"TANGO2 Deficiency Disorder",
"TANGO2-Related Metabolic Encephalopathy and Arrhythmias",
"TANGO2 Deficiency Disorder",
"TANGO2-Related Metabolic Encephalopathy and Arrhythmias",
"Transport and Golgi organization protein 2 homolog",
"TANGO2",
"TANGO2 Deficiency"
] | TANGO2 Deficiency | Christina Y Miyake, Lindsay Burrage, Kevin Glinton, Kimberly Houck, Alfonso Hoyos-Martinez, Brett Graham, Yaping Yang, Brandy Rawls-Castillo, Fernando Scaglia, Claudia Soler-Alfonso, Seema R Lalani | Summary TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. Most individuals have TANGO2 spells, non-life-threatening paroxysmal worsening of baseline symptoms, including sudden onset of hypotonia, ataxia with loss o... | ## Diagnosis
TANGO2 deficiency should be suspected in a proband with the following clinical, laboratory, EKG, imaging, and family history findings.
Developmental delay (including motor and speech delays)
Spasticity
Poor coordination and unsteady gait
Speech difficulties (dysarthria, slurred or nasal speech)
Int... | [] | 25/1/2018 | 9/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tar | tar | [
"TAR Syndrome",
"TAR Syndrome",
"RNA-binding protein 8A",
"RBM8A",
"Thrombocytopenia Absent Radius Syndrome"
] | Thrombocytopenia Absent Radius Syndrome | Florence Petit, Simon Boussion | Summary Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episod... | ## Diagnosis
Thrombocytopenia absent radius (TAR) syndrome
Bilateral absence of the radii with the presence of both thumbs
Thrombocytopenia, usually <50 platelets/nL (normal range: 150-400 platelets/nL)
The diagnosis of TAR syndrome
Molecular genetic testing approaches can include a combination of
Gene-targeted t... | [] | 8/12/2009 | 25/8/2022 | 2/11/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
tardbp-als | tardbp-als | [
"TARDBP-ALS-FTD",
"TDP-43 Proteinopathy",
"TDP-43-Linked ALS-FTD",
"TARDBP-ALS-FTD",
"TDP-43 Proteinopathy",
"TDP-43-Linked ALS-FTD",
"TAR DNA-binding protein 43",
"TARDBP",
"TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia"
] | Vaishnavi Manohar, Leon Crowley, Jemeen Sreedharan | Summary In this The diagnosis of | With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that heterozygous
A phenotypic spectrum encompassing pure (i.e., without other neurologic findings) amyotrophic lateral sclerosis (ALS; most common), pure (i.e., without other neurologic findings) frontotempor... | [
"O Abel, JF Powell, PM Andersen, A Al-Chalabi. Credibility analysis of putative disease-causing genes using bioinformatics.. PLoS One. 2013;8",
"J Acosta-Uribe, D Aguillón, JN Cochran, M Giraldo, L Madrigal, BW Killingsworth, R Singhal, S Labib, D Alzate, L Velilla, S Moreno, GP García, A Saldarriaga, F Piedrahit... | 23/4/2009 | 5/1/2023 | 28/5/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tay-sachs | tay-sachs | [
"Beta-Hexosaminidase A Deficiency",
"GM2 Gangliosidosis, Type I",
"Tay-Sachs Disease",
"Beta-Hexosaminidase A Deficiency",
"GM2 Gangliosidosis, Type I",
"Tay-Sachs Disease",
"Subacute Juvenile Tay-Sachs Disease",
"Acute Infantile Tay-Sachs Disease",
"Late-Onset Tay-Sachs Disease",
"Beta-hexosamini... | Camilo Toro, Leila Shirvan, Cynthia Tifft | Summary The classic clinical phenotype is known as Tay-Sachs disease (TSD), characterized by progressive weakness, loss of motor skills beginning between ages three and six months, decreased visual attentiveness, and increased or exaggerated startle response with a cherry-red spot observable on the retina followed by d... | Acute infantile Tay-Sachs disease
Subacute juvenile Tay-Sachs disease
Late-onset Tay-Sachs disease
For synonyms and outdated names see
Beta-hexosaminidase A (HEX A; often referred to in the shortened form, "hexosaminidase A") is a heterodimer comprising a single alpha chain and a single beta chain. The alpha chain ... | [] | 11/3/1999 | 1/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tbc1d24-dis | tbc1d24-dis | [
"DOORS Syndrome (Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures)",
"TBC1D24-Related Familial Infantile Myoclonic Epilepsy (FIME)",
"TBC1D24-Related Progressive Myoclonus Epilepsy (PME)",
"TBC1D24-Related Developmental and Epileptic Encephalopathy (DEE)",
"TBC1D24-Related Autosom... | Simona Balestrini, Philippe M Campeau, Davide Mei, Renzo Guerrini, Sanjay Sisodiya | Summary The diagnosis of a Most Once the | DOORS syndrome (
Familial infantile myoclonic epilepsy (FIME)
Progressive myoclonic epilepsy (PME)
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC)
Developmental and epileptic encephalopathy (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS)
Autosomal ... | [] | 26/2/2015 | 24/10/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tbck-ndd | tbck-ndd | [
"Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF3)",
"TBCK Encephaloneuronopathy",
"TBCK Syndrome",
"Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF3)",
"TBCK Encephaloneuronopathy",
"TBCK Syndrome",
"TBC domain-containing protein k... | Xilma Ortiz-Gonzalez, Holly Dubbs, Kierstin Keller, Emily Durham | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Severe-to-profound developmental delay (DD) and/or intellectual disability (ID)
Severe hypotonia, typically congenital
Infantile feeding difficulties
Neuromuscular weakness, often progressive, with progressive spasticity and distal muscle wasting
Respir... | [] | 12/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
tbrs | tbrs | [
"DNMT3A Overgrowth Syndrome",
"DNMT3A Overgrowth Syndrome",
"TBRS",
"DNA (cytosine-5)-methyltransferase 3A",
"DNMT3A",
"Tatton-Brown-Rahman Syndrome"
] | Tatton-Brown-Rahman Syndrome | Philip J Ostrowski, Katrina Tatton-Brown | Summary Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference ≥2 standard deviations above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypoto... | ## Diagnosis
No consensus clinical diagnostic criteria for Tatton-Brown-Rahman syndrome (TBRS) have been published.
TBRS
Generalized overgrowth (length/height and/or head circumference ≥2 standard deviations above the mean for age and sex) [
Mild-to-severe developmental delay (DD) or intellectual disability (ID)
... | [] | 30/6/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tbs | tbs | [
"Sal-like protein 1",
"SALL1",
"SALL1-Related Townes-Brocks Syndrome"
] | Claudio Graziano, Giulia Olivucci | Summary The diagnosis of | ## Diagnosis
Imperforate anus or anal stenosis
Dysplastic ears (overfolded superior helices, preauricular tags, microtia)
Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs, hypoplastic thumbs) without hypoplasia of the radius
Sensorineural and/or conductive hearing impairment
Foot malform... | [] | 24/1/2007 | 8/8/2024 | 14/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tcs | tcs | [
"Mandibulofacial Dysostosis",
"Treacher Collins-Franceschetti Syndrome",
"Mandibulofacial Dysostosis",
"Treacher Collins-Franceschetti Syndrome",
"DNA-directed RNA polymerase I subunit RPA2",
"DNA-directed RNA polymerases I and III subunit RPAC1",
"DNA-directed RNA polymerases I and III subunit RPAC2",
... | Treacher Collins Syndrome | Mafalda Barbosa, Ethylin Wang Jabs, Sara Huston | Summary Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rota... | ## Diagnosis
No consensus clinical diagnostic criteria for Treacher Collins syndrome (TCS) have been published.
TCS
Lower eyelid abnormalities including coloboma (notching) of the lower eyelid and sparse, partially absent, or totally absent eyelashes and tear ducts
Malar hypoplasia due to hypoplasia of the zygoma... | [] | 20/7/2004 | 20/6/2024 | 20/8/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
td | td | [
"Fibroblast growth factor receptor 3",
"FGFR3",
"Thanatophoric Dysplasia"
] | Thanatophoric Dysplasia | Tegan French, Ravi Savarirayan | Summary Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type 2 is characterized by micromelia ... | Thanatophoric dysplasia type 1 (
Thanatophoric dysplasia type 2 (
For synonyms and outdated names, see
• Thanatophoric dysplasia type 1 (
• Thanatophoric dysplasia type 2 (
## Diagnosis
Formal diagnostic criteria for thanatophoric dysplasia (TD) have not been established.
TD
First trimester
Shortening of the l... | [] | 21/5/2004 | 18/6/2020 | 18/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
tecpr2-hsan-id | tecpr2-hsan-id | [
"Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9)",
"Hereditary Spastic Paraplegia Type 49 (SPG49)",
"Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9)",
"Hereditary Spastic Paraplegia Type 49 (SPG49)",
"Tectonin beta-propeller repeat-co... | Gali Heimer, Sonja Neuser, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Developmental delay / intellectual disability (mainly in the moderate to severe range)
Neurologic findings
Muscular hypotonia
Gait ataxia
Hyporeflexia / areflexia of the lower limbs
Impaired pain sensitivity
Dysarthria
Autonomic dysfunction
Impaired... | [
"S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, HE Shamseldin, F AlZahrani, N Patel, N Ibrahim, FM Abdulwahab, M Hashem, N Alhashmi, F Al Murshedi, A Al Kindy, A Alshaer, A Rumayyan, S Al Tala, W Kurdi, A Alsaman, A Alasmari, S Banu, T Sultan, MM Saleh, H Alkuraya, MA Salih, H Aldhalaan, T Ben-... | 22/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
tef-ov | tef-ov | [
"Chromodomain-helicase-DNA-binding protein 7",
"E3 ubiquitin-protein ligase FANCL",
"E3 ubiquitin-protein ligase Midline-1",
"Fanconi anemia group A protein",
"Fanconi anemia group B protein",
"Fanconi anemia group C protein",
"Fanconi anemia group D2 protein",
"Fanconi anemia group E protein",
"Fan... | Esophageal Atresia / Tracheoesophageal Fistula Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Daryl A Scott | Summary The purpose of this overview is to increase the awareness of clinicians regarding esophageal atresia / tracheoesophageal fistula and its genetic causes and management. The following are the goals of this overview. Describe the Review the Provide an Inform Review | ## Clinical Characteristics of EA/TEF
Esophageal atresia (EA) is a developmental defect of the upper gastrointestinal tract in which the continuity between the upper and lower esophagus is lost. EA can occur with or without tracheoesophageal fistula (TEF), an abnormal connection between the trachea and the esophagus.... | [
"E Brosens, EM de Jong, TS Barakat, BH Eussen, B D'Haene, E De Baere, H Verdin, PJ Poddighe, RJ Galjaard, J Gribnau, AS Brooks, D Tibboel, A de Klein. Structural and numerical changes of chromosome X in patients with esophageal atresia.. Eur J Hum Genet. 2014a;22:1077-84",
"E Brosens, M Ploeg, Y van Bever, AE Koo... | 12/3/2009 | 20/9/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tetra-amelia | tetra-amelia | [
"Tetra-Amelia, Autosomal Recessive",
"Tetra-Amelia, Autosomal Recessive",
"Proto-oncogene Wnt-3",
"WNT3",
"Tetra-Amelia Syndrome"
] | Tetra-Amelia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY | Stephan Niemann | Summary Tetra-amelia syndrome is characterized by the (complete) absence of all four limbs and anomalies involving the cranium and the face (cleft lip/cleft palate, micrognathia, microtia, single naris, choanal atresia, absence of nose); eyes (microphthalmia, microcornea, cataract, coloboma, palpebral fusion); urogeni... | ## Diagnosis
Tetra-amelia is characterized by the (complete) absence of all four limbs (
In the few families described to date, tetra-amelia was associated with craniofacial, urogenital, cardiopulmonary, nervous system, and skeletal malformations, in which instance the correct terminology should be tetra-amelia syndr... | [
"S Başaran, A Yuksel, H Ermis, F Kuseyri, M Agan, M Yuksel-Apak. Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?. Am J Med Genet 1994;51:77-80",
"W Eyaid, MM Al-Qattan, I Al Abdulkareem, N Fetaini, M Al Balwi. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in th... | 28/8/2007 | 2/8/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tfap | tfap | [
"ATTRv Amyloidosis",
"Familial Amyloid Polyneuropathy",
"Familial Transthyretin Amyloidosis",
"hATTR",
"Hereditary Amyloidogenic Transthyretin Amyloidosis",
"Hereditary ATTR Amyloidosis",
"Hereditary Transthyretin-Mediated Amyloidosis",
"ATTRv Amyloidosis",
"Familial Amyloid Polyneuropathy",
"Fami... | Hereditary Transthyretin Amyloidosis | Yoshiki Sekijima, Katsuya Nakamura | Summary Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy. Amyloidosis can involve the heart, central nervous system (CNS), eyes, and kidneys. The disease usually begins in the third to fifth decade in persons from endem... | ## Diagnosis
Hereditary transthyretin amyloidosis (ATTRv amyloidosis)
Cardiac conduction blocks
Cardiomyopathy
Nephropathy
Vitreous opacities
Glaucoma
Echocardiogram may show left ventricular or biventricular thickening with speckled myocardium.
Gadolinium contrast-guided cardiac MRI can show characteristic g... | [] | 5/11/2001 | 30/5/2024 | 17/6/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
tfr2 | tfr2 | [
"Transferrin receptor protein 2",
"TFR2",
"TFR2-Related Hemochromatosis"
] | Marco De Gobbi, Antonella Roetto | Summary The diagnosis of | ## Diagnosis
An algorithm for the diagnosis of
Weakness, chronic fatigue
Abdominal pain
Hepatomegaly
Cirrhosis, hepatocellular carcinoma
Endocrine manifestations, including diabetes mellitus, hypogonadotropic hypogonadism (decreased libido and impotence in men, amenorrhea in women)
Cardiomyopathy, EKG abnormal... | [] | 29/8/2005 | 7/12/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
thctd | thctd | [
"MCT8 Deficiency",
"MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency",
"MCT8 Deficiency",
"MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency",
"Monocarboxylate transporter 8",
"SLC16A2",
"Allan-Herndon-Dudley Syndrome"
] | Allan-Herndon-Dudley Syndrome | Catherine Sarret, Isabelle Oliver Petit, Davide Tonduti | Summary Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathe... | ## Diagnosis
Formal diagnostic criteria for Allan-Herndon-Dudley syndrome have not been established.
Allan-Herndon-Dudley syndrome (AHDS)
Onset before age two years often with hypotonia and feeding difficulties
Developmental delay / intellectual disability ranging from mild to profound intellectual disability
Ex... | [
"A Anık, S Kersseboom, K Demir, G Catlı, U Yiş, E Böber, A van Mullem, RE van Herebeek, S Hız, A Abacı, TJ Visser. Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.. Horm Res Paediatr. 2014;82:261-71",
"K Brockmann, AM Dumitrescu, TT B... | 9/3/2010 | 16/1/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
thdrd | thdrd | [
"TH-Deficient Dopa-Responsive Dystonia",
"TH-Deficient Infantile Parkinsonism with Motor Delay",
"TH-Deficient Progressive Infantile Encephalopathy",
"Tyrosine 3-monooxygenase",
"TH",
"Tyrosine Hydroxylase Deficiency"
] | Tyrosine Hydroxylase Deficiency | Yoshiaki Furukawa, Stephen Kish | Summary Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa therapy, clinical phenotypes caused by pathogenic variants in In individuals with TH-deficient dopa-responsive dystonia (DYT5b, DYT-TH), onset is between... | TH-deficient dopa-responsive dystonia
TH-deficient infantile parkinsonism with motor delay
TH-deficient progressive infantile encephalopathy
For synonyms and outdated names see
For other genetic causes of these phenotypes, see
• TH-deficient dopa-responsive dystonia
• TH-deficient infantile parkinsonism with moto... | [
"NG Abeling, M Duran, HD Bakker, L Stroomer, B Thony, N Blau, J Booij, BT Poll-The. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.. Mol Genet Metab 2006;89:116-20",
"L Arrabal, L Teresa, R Sánchez-Alcudia, M Castro, C Medrano, L Gutiérrez-Solana, S Roldán, A Ormazábal, C Pérez-C... | 8/2/2008 | 11/5/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
thoc6-id | thoc6-id | [
"Beaulieu-Boycott-Innes Syndrome",
"Beaulieu-Boycott-Innes Syndrome",
"THO complex subunit 6",
"THOC6",
"THOC6 Intellectual Disability Syndrome"
] | Gabrielle Lemire, A Micheil Innes, Kym M Boycott | Summary The diagnosis of | ## Diagnosis
Formal diagnostic criteria for
Moderate-to-severe developmental delay (DD) or intellectual disability (ID)
AND
One or more of the following features presenting in infancy or childhood:
Microcephaly
Multiple dental caries and/or dental malocclusion
Nonspecific dysmorphic features, including tall fore... | [] | 13/8/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
timothy | timothy | [
"Timothy Syndrome",
"Timothy Syndrome",
"CACNA1C-Related Neurodevelopmental Syndrome",
"CACNA1C-Related Nonsyndromic Long QT Syndrome",
"CACNA1C-Related Nonsyndromic Short QT Syndrome",
"CACNA1C-Related Brugada Syndrome with Short QT",
"Voltage-dependent L-type calcium channel subunit alpha-1C",
"CACN... | Carlo Napolitano, Silvia G Priori | Summary The clinical manifestations of The diagnosis of a | Timothy syndrome
Nonsyndromic long QT syndrome
Nonsyndromic short QT syndrome
Brugada syndrome with short QT
For synonyms and outdated names see
The phenotypic spectrum of heterozygous
For other genetic causes of these phenotypes, see
• Timothy syndrome
• Nonsyndromic long QT syndrome
• Nonsyndromic short QT s... | [] | 15/2/2006 | 19/12/2024 | 20/8/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tk2-mtddepl | tk2-mtddepl | [
"Mitochondrial DNA Depletion Syndrome 2 (MTDPS2), Myopathic Type",
"TK2 Deficiency",
"TK2 Deficiency",
"Mitochondrial DNA Depletion Syndrome 2 (MTDPS2), Myopathic Type",
"Thymidine kinase 2, mitochondrial",
"TK2",
"TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form"
] | Julia Wang, Ayman W El-Hattab, Lee-Jun C Wong | Summary Three main subtypes of presentation have been described: Infantile-onset myopathy with neurologic involvement and rapid progression to early death. Affected individuals experience progressive muscle weakness leading to respiratory failure. Some individuals develop dysarthria, dysphagia, and/or hearing loss. Cog... | ## Diagnosis
Infantile-onset myopathy with neurologic involvement and rapid progression to early death
Juvenile/childhood onset with generalized proximal weakness and survival to adolescence or adulthood
Late-/adult-onset myopathy with facial and limb weakness and mtDNA deletions
Generalized hypotonia
Rapidly pr... | [] | 6/12/2012 | 26/7/2018 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tnxb-eds | tnxb-eds | [
"Classical-Like Ehlers-Danlos syndrome (clEDS) Type 1",
"TNXB-Related clEDS",
"TNXB-Related Classic-Like Ehlers-Danlos Syndrome",
"Classical-Like Ehlers-Danlos Syndrome Type 1",
"TNXB-Related clEDS",
"TNXB-Related Classic-Like Ehlers-Danlos Syndrome",
"clEDS Type 1",
"Tenascin-X",
"TNXB",
"TNXB-Re... | Fleur S van Dijk, Neeti Ghali, Serwet Demirdas, Duncan Baker | Summary The clinical features of The diagnosis of | ## Diagnosis
Minimum suggestive clinical diagnostic criteria for
Skin hyperextensibility with velvety skin texture and absence of atrophic scarring (See
Hyperextensibility can be objectively measured by pinching the cutaneous and subcutaneous layers of skin located in the middle of the volar surface of the nondomi... | [
"A Besselink-Lobanova, NJ Maandag, NC Voermans, HF van der Heijden, JG van der Hoeven, LM Heunks. Trachea rupture in tenascin-X-deficient type Ehlers-Danlos syndrome.. Anesthesiology. 2010;113:746-9",
"AF Brady, S Demirdas, S Fournel-Gigleux, N Ghali, C Giunta, I Kapferer-Seebacher, T Kosho, R Mendoza-Londono, MF... | 15/9/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
tooth-agenesis-ov | tooth-agenesis-ov | [
"Nonsyndromic Tooth Agenesis",
"Overview"
] | Nonsyndromic Tooth Agenesis Overview | Ariadne Letra, Brett Chiquet, Emily Hansen-Kiss, Simone Menezes, Elizabeth Hunter | Summary The purpose of this overview is to: Describe the Review the Provide an Review Inform | ## Clinical Characteristics of Nonsyndromic Tooth Agenesis
Tooth agenesis is a developmental anomaly characterized by the absence of one or more permanent teeth (excluding third molars) due to failure at the early stages of tooth development. The term nonsyndromic tooth agenesis (NSTA) refers to the condition in whic... | [] | 22/7/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tps | tps | [
"Tricho-Rhino-Phalangeal Syndrome (TRPS)",
"Tricho-Rhino-Phalangeal Syndrome (TRPS)",
"Trichorhinophalangeal Dysplasia Type I",
"Trichorhinophalangeal Dysplasia Type II (Langer-Giedion Syndrome)",
"Double-strand-break repair protein rad21 homolog",
"Exostosin-1",
"Zinc finger transcription factor Trps1"... | Trichorhinophalangeal Syndrome | Beyhan Tüysüz, Nilay Güneş, Dilek Uludağ Alkaya | Summary Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in The clinical diagnosis of TRPS can be established in a proband with characteristic facial features, ectodermal and joint manifestations, and skeletal findings of cone-shaped epiphyses. The molecular diagnosis ... | Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type II (Langer-Giedion syndrome)
For synonyms and outdated names see
• Trichorhinophalangeal dysplasia type I
• Trichorhinophalangeal dysplasia type II (Langer-Giedion syndrome)
## Diagnosis
No consensus diagnostic criteria for trichorhinopha... | [] | 20/4/2017 | 21/3/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
traps | traps | [
"TNF Receptor-Associated Periodic Syndrome (TRAPS)",
"Tumor Necrosis Factor Receptor-Associated Periodic Syndrome",
"TNF Receptor-Associated Periodic Syndrome (TRAPS)",
"Tumor Necrosis Factor Receptor-Associated Periodic Syndrome",
"Tumor necrosis factor receptor superfamily member 1A",
"TNFRSF1A",
"TNF... | TNF Receptor-Associated Periodic Fever Syndrome | Natalie Deuitch, Cornelia Cudrici, Amanda Ombrello, Ivona Aksentijevich | Summary TNF receptor-associated periodic fever syndrome (TRAPS) is characterized by episodes of inflammation typically occurring every four to six weeks and lasting between five and 25 days. Flares may be prompted by stress, infection, trauma, hormonal changes, and vaccination. Symptoms may include fever, abdominal pai... | ## Diagnosis
Many clinical diagnostic criteria for TNF receptor-associated periodic fever syndrome (TRAPS) have been proposed. A classification system that incorporates molecular genetic testing and clinical features has been found to have a sensitivity of 95%, a specificity of 99%, and an accuracy of 99% [
TRAPS
... | [
"AC Bulua, A Simon, R Maddipati, M Pelletier, H Park, KY Kim, MN Sack, DL Kastner, RM Siegel. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS).. J Exp Med. 2011;208:519-33",
"C Cudrici, N Deuitch, I. Aksentijevich.... | 10/11/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
trimethylaminuria | trimethylaminuria | [
"Fish Odor Syndrome",
"FMO3 Deficiency",
"TMAU",
"TMAuria",
"Fish Odor Syndrome",
"TMAuria",
"TMAU",
"FMO3 Deficiency",
"Flavin-containing monooxygenase 3",
"FMO3",
"Primary Trimethylaminuria"
] | Primary Trimethylaminuria | Ian R Phillips, Elizabeth A Shephard | Summary Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and heal... | ## Diagnosis
Diagnosis of primary trimethylaminuria has been discussed in detail [
Primary trimethylaminuria
Note: Diagnosis of primary trimethylaminuria cannot be based on the examiner’s sense of smell due to the following:
The presence of the odor is often episodic and thus may not be noticeable when the person i... | [] | 8/10/2007 | 5/11/2020 | 18/3/2008 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
trio-id | trio-id | [
"Triple functional domain protein",
"TRIO",
"TRIO-Related Neurodevelopmental Disorder"
] | Konstantinos Varvagiannis, Lisenka ELM Vissers, Diana Baralle, Bert BA de Vries, Gabriella Gazdagh | Summary The diagnosis of | ## Diagnosis
Early feeding issues with poor weight gain
Delayed motor and speech development
Variable intellectual functioning ranging from borderline cognitive function (IQ: 70-85) to severe intellectual disability
Neurobehavioral manifestations including stereotypies, obsessive-compulsive behavior, autistic findi... | [
"W Ba, Y Yan, MR Reijnders, JH Schuurs-Hoeijmakers, I Feenstra, EM Bongers, DG Bosch, N De Leeuw, R Pfundt, C Gilissen, PF De Vries, JA Veltman, A Hoischen, HC Mefford, EE Eichler, LE Vissers, N Nadif Kasri, BB De Vries. TRIO loss of function is associated with mild intellectual disability and affects dendritic bra... | 10/8/2017 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
trma | trma | [
"Rogers Syndrome",
"TRMA",
"Rogers Syndrome",
"TRMA",
"Thiamine transporter 1",
"SLC19A2",
"Thiamine-Responsive Megaloblastic Anemia Syndrome"
] | Thiamine-Responsive Megaloblastic Anemia Syndrome | Shuhei Sako, Toshiki Tsunogai, Kimihiko Oishi | Summary Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macroc... | ## Diagnosis
Thiamine-responsive megaloblastic anemia syndrome (TRMA)
Examination of the bone marrow reveals megaloblastic changes with erythroblasts often containing iron-filled mitochondria (ringed sideroblasts).
Vitamin B
The anemia is corrected with pharmacologic doses of thiamine (vitamin B
Even without thiam... | [
"MR Abboud, D Alexander, SS Najjar. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.. J Pediatr 1985;107:537-41",
"L Akın, S Kurtoğlu, M Kendirci, MA Akın, M Karakükçü. Does early treatment prevent deafness... | 24/10/2003 | 28/7/2022 | 19/11/2007 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
trmu-def | trmu-def | [
"TRMU-Related Reversible Infantile Respiratory Chain Deficiency",
"TRMU-Related Mitochondrial Hepatopathy",
"TRMU-Related Reversible Infantile Liver Failure",
"TRMU-Related Reversible Infantile Respiratory Chain Deficiency",
"TRMU-Related Mitochondrial Hepatopathy",
"TRMU-Related Reversible Infantile Live... | TRMU Deficiency | Michaela Reinhart, Colleen Muraresku, Rebecca Ganetzky | Summary Infants with untreated TRMU deficiency, a mitochondrial disorder, typically become symptomatic between ages two and four months with transient acute liver dysfunction (including elevated transaminases, abnormal synthetic functions, and/or hepatomegaly), metabolic derangements (severe persistent lactic acidosis,... | ## Diagnosis
No consensus clinical diagnostic criteria for TRMU deficiency have been published.
TRMU deficiency
Acute liver dysfunction with elevated liver enzymes (gamma-glutamyl transferase and transaminases), hyperammonemia, and jaundice due to conjugated hyperbilirubinemia
Severe persistent lactic acidosis in t... | [] | 11/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
trpm3-ndd | trpm3-ndd | [
"Transient receptor potential cation channel subfamily M member 3",
"TRPM3",
"TRPM3-Related Neurodevelopmental Disorder"
] | David Dyment, Matthew Lines, A Micheil Innes | Summary The diagnosis of | ## Diagnosis
Congenital hypotonia
Developmental delay (DD)
Intellectual disability (ID) of varying degrees of severity (mild to severe)
Seizures (febrile, absence, generalized tonic-clonic, infantile spasms, atonic drops)
Ophthalmologic findings (strabismus, nystagmus, refractive errors)
Musculoskeletal feature... | [] | 23/2/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
tubb4a-leuk | tubb4a-leuk | [
"TUBB4A-Related Hypomyelinating Leukodystrophy",
"TUBB4A-Related Isolated Hypomyelination",
"Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC)",
"Tubulin beta-4A chain",
"TUBB4A",
"TUBB4A-Related Leukodystrophy"
] | Norah Nahhas, Alex Conant, Eline Hamilton, Julian Curiel, Cas Simons, Marjo van der Knaap, Adeline Vanderver | Summary The diagnosis is established in a proband with characteristic clinical and MRI findings and a heterozygous | Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)
Isolated hypomyelination
For other genetic causes of these phenotypes see
• Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)
• Isolated hypomyelination
## Diagnosis
Onset during infancy or childhood
Motor developmental del... | [
"L Blumkin, A Halevy, D Ben-Ami-Raichman, D Dahari, A Haviv, C Sarit, D Lev, MS van der Knaap, T Lerman-Sagie, E Leshinsky-Silver. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.. Neurogenetics. 2014;15:107-13",
"N Bondurand, F Dastot-Le ... | 3/11/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
tuberous-sclerosis | tuberous-sclerosis | [
"Bourneville Disease",
"Bourneville Disease",
"Hamartin",
"Tuberin",
"TSC1",
"TSC2",
"Tuberous Sclerosis Complex"
] | Tuberous Sclerosis Complex | Hope Northrup, Mary Kay Koenig, Deborah A Pearson, Kit Sing Au | Summary Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-ass... | ## Diagnosis
Consensus clinical diagnostic criteria for tuberous sclerosis complex (TSC) have been published [
TSC
Hypomelanotic macules (≥3 macules that are at least 5 mm in diameter)
Angiofibromas (≥3) or fibrous cephalic plaque
Shagreen patch
Ungual fibromas (≥2)
Subependymal nodules (SENs) (≥2)
Multiple c... | [] | 13/7/1999 | 1/8/2024 | 9/12/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
tubulin-ov | tubulin-ov | [
"Tubulin-Related Cortical Dysgenesis",
"Tubulin alpha-1A chain",
"Tubulin beta chain",
"Tubulin beta-2A chain",
"Tubulin beta-2B chain",
"Tubulin beta-3 chain",
"Tubulin gamma-1 chain",
"TUBA1A",
"TUBB",
"TUBB2A",
"TUBB2B",
"TUBB3",
"TUBG1",
"Tubulinopathies",
"Overview"
] | Tubulinopathies Overview | Nadia Bahi-Buisson, Camille Maillard | Summary The purpose of this overview is to: Describe the Review the genetic Review the Provide an Review general medical Inform | ## Clinical Characteristics of Tubulinopathies
Tubulinopathies (or tubulin-related cortical dysgenesis) comprise a wide and overlapping range of brain malformations as well as other clinical features caused by pathogenic variants in genes encoding different isotypes of tubulin [
MRI reveals a "coarse" appearance wit... | [] | 24/3/2016 | 16/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
tyrosinemia-2 | tyrosinemia-2 | [
"Oculocutaneous Tyrosinemia",
"Richner-Hanhart Syndrome",
"TAT Deficiency",
"Tyrosine Aminotransferase Deficiency",
"Oculocutaneous Tyrosinemia",
"Richner-Hanhart Syndrome",
"Tyrosine Aminotransferase Deficiency",
"TAT Deficiency",
"Tyrosine aminotransferase",
"TAT",
"Tyrosinemia Type II"
] | Tyrosinemia Type II | Zahra Bayzaei, Seyed Mohsen Dehghani, Bita Geramizadeh | Summary Tyrosinemia type II is characterized by corneal dystrophy, painful palmoplantar hyperkeratosis, and variable intellectual disability. Individuals diagnosed and treated from early infancy may be asymptomatic or have only mild ocular and skin manifestations. Individuals with delayed diagnosis or lack of treatment... | ## Diagnosis
No consensus clinical diagnostic criteria for tyrosinemia type II have been published.
Tyrosinemia type II is caused by deficiency of the enzyme tyrosine aminotransferase (TAT) (see
NBS for hepatorenal tyrosinemia (tyrosinemia type I) is typically based on quantification of tyrosine in dried blood spots... | [] | 24/10/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
tyrosinemia | tyrosinemia | [
"FAH Deficiency",
"Fumarylacetoacetase Deficiency",
"Fumarylacetoacetate Hydrolase Deficiency",
"Hepatorenal Tyrosinemia",
"FAH Deficiency",
"Hepatorenal Tyrosinemia",
"Hereditary Tyrosinemia Type I",
"Fumarylacetoacetase Deficiency",
"Fumarylacetoacetate Hydrolase Deficiency",
"Fumarylacetoacetas... | Tyrosinemia Type I | Lisa Sniderman King, Cristine Trahms, C Ronald Scott | Summary Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one ... | ## Diagnosis
Tyrosinemia type I is caused by deficiency of the enzyme fumarylacetoacetase (FAH) (
Tyrosinemia type I
Infants with tyrosinemia type I may have only modestly elevated or normal blood concentrations of tyrosine and methionine when the first newborn screening sample is collected.
Elevated tyrosine con... | [] | 24/7/2006 | 25/5/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
ucd-overview | ucd-overview | [
"Citrullinemia Type I",
"Carbamoylphosphate Synthetase I Deficiency",
"Ornithine Transcarbamylase Deficiency",
"Argininosuccinate Lyase Deficiency",
"Arginase Deficiency",
"N-Acetylglutamate Synthase Deficiency",
"Arginase-1",
"Argininosuccinate lyase",
"Argininosuccinate synthase",
"Carbamoyl-pho... | Urea Cycle Disorders Overview | Kara L Simpson, Erin L MacLeod, Aadil Kakajiwala, Andrea L Gropman, Nicholas Ah Mew | Summary The purpose of this overview is to: Briefly describe the Review the Review the Provide an Review Inform | ## Clinical Characteristics of Urea Cycle Disorders
The urea cycle is (1) the principal mechanism for the clearance of waste nitrogen from protein and other nitrogenous compounds and (2) the sole source of endogenous production of arginine, ornithine, and citrulline.
The urea cycle (see
Five catalytic enzymes:
Car... | [] | 29/4/2003 | 3/7/2025 | 9/4/2015 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
udd | udd | [
"Udd Myopathy",
"Udd Myopathy",
"Titin",
"TTN",
"Udd Distal Myopathy – Tibial Muscular Dystrophy"
] | Udd Distal Myopathy – Tibial Muscular Dystrophy | Bjarne Udd, Peter Hackman | Summary Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels after age 30 years. Disease progression is slow and muscle weakness remains confined to the anterior compartment muscles for many years. The long toe extensors become c... | ## Diagnosis
Udd distal myopathy – tibial muscular dystrophy (UDM-TMD)
The diagnosis of UDM-TMD
Note: The last six exons of
Molecular genetic testing approaches can include a combination of
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does n... | [
"K Charton, J Sarparanta, A Vihola, A Milic, PH Jonson, L Sue, H Luque, I Boumela, I Richard, B Udd. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.. Hum Mol Gen 2015;24:3718-31",
"A Evilä, J Palmio, A Vihola, M Savarese, G Tasca, S Penttilä, S Lehtinen, PH Jonson, ... | 17/2/2005 | 2/1/2020 | 8/8/2013 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
unc80-def | unc80-def | [
"Protein unc-80 homolog",
"UNC80",
"UNC80 Deficiency"
] | UNC80 Deficiency | Nuria C Bramswig, Maha S Zaki | Summary UNC80 deficiency is characterized by developmental delay, neonatal hypotonia, severe intellectual disability, dysmorphic facial features, strabismus, dyskinetic limb movements, and neurobehavioral manifestations. The majority of individuals do not learn to walk. All individuals lack expressive speech; however, ... | ## Diagnosis
UNC80 deficiency
Developmental delay with severe motor delays and absent speech (less than five words)
Neonatal hypotonia
Severe intellectual disability
Strabismus
Dyskinesia of the limbs
Postnatal growth deficiency with postnatal microcephaly in some individuals
Sleeplessness and irritability
Con... | [] | 21/9/2017 | 18/5/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
updates | updates | [] | What's New in GeneReviews | [] | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||||||
urofacial | urofacial | [
"Ochoa Syndrome",
"Ochoa Syndrome",
"Inactive heparanase-2",
"Leucine-rich repeats and immunoglobulin-like domains protein 2",
"HPSE2",
"LRIG2",
"Urofacial Syndrome"
] | Urofacial Syndrome | William G Newman, Adrian S Woolf, Glenda M Beaman, Neil A Roberts | Summary Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or ... | ## Diagnosis
No formal diagnostic criteria for urofacial syndrome (UFS) have been published.
UFS
Characteristic urinary tract abnormalities:
Prenatal ultrasonography in the second or third trimester can show an enlarged bladder (megacystis) and dilated upper urinary tracts (hydronephrosis).
Postnatal imaging by ... | [] | 22/8/2013 | 28/9/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
usher1 | usher1 | [
"USH1",
"Usher 1",
"USH1",
"Usher 1",
"Cadherin-23",
"Calcium and integrin-binding family member 2",
"Harmonin",
"pre-mRNA splicing regulator USH1G",
"Protocadherin-15",
"Unconventional myosin-VIIa",
"CDH23",
"CIB2",
"MYO7A",
"PCDH15",
"USH1C",
"USH1G",
"Usher Syndrome Type I"
] | Usher Syndrome Type I | Robert K Koenekoop, Moises A Arriaga, Karmen M Trzupek, Jennifer J Lentz | Summary Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degenerat... | ## Diagnosis
Usher syndrome type I (USH1)
Congenital (i.e., prelingual) severe-to-profound bilateral sensorineural hearing loss (see
No significant or delayed vestibular responses;
Normal general health and intellect and otherwise normal physical examination;
A family history consistent with autosomal recessive in... | [] | 10/12/1999 | 25/6/2020 | 8/10/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
usher2 | usher2 | [
"USH2",
"USH2",
"Adhesion G-protein coupled receptor V1",
"Usherin",
"Whirlin",
"ADGRV1",
"USH2A",
"WHRN",
"Usher Syndrome Type II"
] | Usher Syndrome Type II | Robert Koenekoop, Moises Arriaga, Karmen M Trzupek, Jennifer Lentz | Summary Usher syndrome type II (USH2) is characterized by the following: Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies Intact or variable vestibular responses Retinitis pigmentosa (RP); progressive, bilateral, symmetric ... | ## Diagnosis
Usher syndrome type II (USH2)
Congenital (i.e., prelingual) sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies (see
Intact or variable vestibular responses;
Normal general health and intellect; otherwise normal physical examinatio... | [] | 10/12/1999 | 22/10/2020 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
vexas | vexas | [
"Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome",
"Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome",
"Ubiquitin-like modifier-activating enzyme 1",
"UBA1",
"VEXAS Syndrome"
] | VEXAS Syndrome | Jerome Hadjadj, David Beck | Summary VEXAS syndrome is an autoinflammatory syndrome caused by a somatic The diagnosis of VEXAS syndrome is established in an individual with suggestive findings and a VEXAS syndrome is an X-linked disorder caused by somatic pathogenic variants in | ## Diagnosis
For the purposes of this
Formal diagnostic criteria for VEXAS syndrome have not been established.
VEXAS syndrome
Recurrent episodes of fever
Weight loss
Skin lesions. Skin biopsy is needed to document neutrophilic dermatosis including Sweet syndrome, leukocytoclastic vasculitis, or other atypical r... | [] | 15/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
vhl | vhl | [
"VHL Disease",
"VHL Syndrome",
"Von Hippel-Lindau Disease",
"VHL Syndrome",
"Von Hippel-Lindau Disease",
"VHL Disease",
"Von Hippel-Lindau disease tumor suppressor",
"VHL",
"Von Hippel-Lindau Syndrome"
] | Von Hippel-Lindau Syndrome | Rachel S van Leeuwaarde, Saya Ahmad, Bernadette van Nesselrooij, Wouter Zandee, Rachel H Giles | Summary Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas.... | ## Diagnosis
Clinical diagnostic criteria for von Hippel-Lindau syndrome (VHL) have been proposed and vary slightly between Dutch or Danish guidelines [
VHL
Retinal angioma, especially in a young individual
Multiple spinal or cerebellar hemangioblastoma, or a single hemangioblastoma diagnosed at age ≤50 years
Adre... | [] | 17/5/2000 | 21/9/2023 | 1/5/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
vlcad | vlcad | [
"Very Long-Chain Acyl-CoA Dehydrogenase Deficiency",
"VLCAD Deficiency",
"VLCAD Deficiency",
"Very Long-Chain Acyl-CoA Dehydrogenase Deficiency",
"ACADVL-Related Severe Early-Onset Cardiac and Multiorgan Failure",
"ACADVL-Related Hepatic or Hypoketotic Hypoglycemia",
"ACADVL-Related Later-Onset Episodic... | Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | Nancy D Leslie, Sofia Saenz-Ayala | Summary Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically prese... | Severe early-onset cardiac and multiorgan failure
Hepatic or hypoketotic hypoglycemia
Later-onset episodic myopathy with intermittent rhabdomyolysis
For other genetic causes of these phenotypes, see
• Severe early-onset cardiac and multiorgan failure
• Hepatic or hypoketotic hypoglycemia
• Later-onset episodic my... | [] | 28/5/2009 | 16/6/2022 | 7/8/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
vldlr-ch | vldlr-ch | [
"Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)",
"Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)",
"Very low-density lipoprotein receptor",
"VLDLR",
"VLDLR Cerebellar Hypoplasia"
] | Kym M Boycott, Stella K MacDonald, Jillian S Parboosingh | Summary The diagnosis of | ## Diagnosis
Non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation
Moderate-to-profound intellectual disability
Dysarthria
MRI findings (see
Hypoplasia of the inferior portion of the cerebellar vermis and hemispheres
Simplified gyration of the cerebral hemispheres with ... | [] | 26/8/2008 | 27/2/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
vmcm | vmcm | [
"TEK-Related Unifocal (Isolated) Venous Malformation",
"TEK-Related Multiple Cutaneous and Mucosal Venous Malformations (VMCM)",
"TEK-Related Multifocal Sporadic Venous Malformations (MSVM)",
"Blue Rubber Bleb Nevus (BRBN) Syndrome",
"Angiopoietin-1 receptor",
"TEK",
"TEK-Related Venous Malformations"
] | Emmanuel Seront, Laurence M Boon, Miikka Vikkula | Summary The diagnosis of For With regards to other | VM = venous malformations
Adapted from Figure 4 in
See
## Diagnosis
Cutaneous and/or mucosal bluish-purple VM can be either single or multiple, and can vary in size from a few millimeters in diameter to larger lesions affecting an entire extremity (see
Lesions are soft and usually compressible.
Ultrasound examina... | [
"DM Adams, CC Trenor, AM Hammill, AA Vinks, MN Patel, G Chaudry, MS Wentzel, PS Mobberley-Schuman, LM Campbell, C Brookbank, A Gupta, C Chute, J Eile, J McKenna, AC Merrow, L Fei, L Hornung, M Seid, AR Dasgupta, BH Dickie, RG Elluru, AW Lucky, B Weiss, RG Azizkhan. Efficacy and safety of sirolimus in the treatment ... | 18/9/2008 | 2/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
vodi | vodi | [
"VODI",
"Sp110 nuclear body protein",
"SP110",
"Hepatic Veno-Occlusive Disease with Immunodeficiency"
] | Hepatic Veno-Occlusive Disease with Immunodeficiency | Melanie Wong | Summary Hepatic veno-occlusive disease with immunodeficiency (VODI) is characterized by (1) combined immunodeficiency and (2) terminal hepatic lobular vascular occlusion and hepatic fibrosis manifesting as hepatomegaly and/or hepatic failure. Onset is usually before age six months. The immunodeficiency comprises severe... | ## Diagnosis
Clinical diagnostic criteria for hepatic veno-occlusive disease with immunodeficiency (VODI) have been established [
VODI
Clinical evidence of immunodeficiency with bacterial and opportunistic infections including
Hepatomegaly or evidence of hepatic failure, not explained by other factors, in the aff... | [] | 21/2/2007 | 23/1/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
von-willebrand | von-willebrand | [
"Von Willebrand Factor Deficiency",
"Type 1 Von Willebrand Disease",
"Type 2A Von Willebrand Disease",
"Type 2B Von Willebrand Disease",
"Type 2M Von Willebrand Disease",
"Type 2N Von Willebrand Disease",
"Type 3 Von Willebrand Disease",
"Type 1C Von Willebrand Disease",
"von Willebrand factor",
"... | Von Willebrand Disease | Jill Johnsen | Summary Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, o... | Von Willebrand Disease: Phenotypic Spectrum
VWD = von Willebrand disease; VWF = von Willebrand factor
## Diagnosis
International guidelines on the diagnosis of von Willebrand disease (VWD) have been published [
VWD
Excessive bruising, particularly without recognized trauma
Prolonged bleeding from cutaneous woun... | [] | 4/6/2009 | 14/11/2024 | 26/10/2010 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
vps13d-md | vps13d-md | [
"Spinocerebellar Ataxia, Recessive, Type 4 (SCAR4)",
"Spinocerebellar Ataxia with Saccadic Intrusion (SCASI)",
"VPS13D Hyperkinetic Movement Disorder",
"VPS13D Hyperkinetic Movement Disorder",
"Spinocerebellar Ataxia with Saccadic Intrusion (SCASI)",
"Spinocerebellar Ataxia, Recessive, Type 4 (SCAR4)",
... | Inge A Meijer | Summary The diagnosis of | ## Diagnosis
Infantile-onset hypotonia and severe developmental delay or motor delay that progresses to severe generalized dystonia or spastic ataxia
Childhood-onset chorea or dystonia
Early-adulthood-onset progressive spastic ataxia, dystonia, and myoclonus
Macro-saccadic intrusions; these large abnormal back-... | [
"AL Anding, C Wang, TK Chang, DA Sliter, CM Powers, K Hofmann, RJ Youle, EH Baehrecke. Vps13D encodes a ubiquitin-binding protein that is required for the regulation of mitochondrial size and clearance.. Curr Biol. 2018;28:287-95.e6",
"LA Corben, D Lynch, M Pandolfo, JB Schulz, MB Delatycki. Consensus clinical ma... | 21/2/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
vps35-pd | vps35-pd | [
"PARK17",
"PARK-VPS35",
"PARK17",
"PARK-VPS35",
"Vacuolar protein sorting-associated protein 35",
"VPS35",
"VPS35-Related Parkinson Disease"
] | Jaroslaw Dulski, Owen A Ross, Zbigniew K Wszolek | Summary The diagnosis of PARK- PARK | ## Diagnosis
Bradykinesia (slowness of movement AND decrement in amplitude or speed) in combination with at least one of the following:
Resting tremor (rhythmic tremor usually of the hands and forearms when relaxed, which disappears with active limb movement)
Rigidity (increased muscle tone resulting in resistance t... | [] | 10/8/2017 | 23/3/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
vws | vws | [
"van der Woude Syndrome (VWS)",
"Popliteal Pterygium Syndrome (PPS)",
"IRF6-Related Neural Tube Defect",
"IRF6-Related Orofacial Cleft",
"Interferon regulatory factor 6",
"IRF6",
"IRF6-Related Disorders"
] | Brian C Schutte, Howard M Saal, Steven Goudy, Elizabeth J Leslie | Summary Most commonly, Individuals with VWS show Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip Cleft lip (CL) Cleft palate (CP) Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often a... | Van der Woude syndrome (VWS)
Popliteal pterygium syndrome (PPS)
For synonyms and outdated names see
• Van der Woude syndrome (VWS)
• Popliteal pterygium syndrome (PPS)
## Diagnosis
Cleft lip with or without cleft palate (CL±P)
Cleft palate (CP)
Submucous cleft palate (SMCP)
CL or CL+P and CP in the same fami... | [] | 30/10/2003 | 4/3/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
wac-id | wac-id | [
"WW domain-containing adapter protein with coiled-coil",
"WAC",
"WAC-Related Intellectual Disability"
] | Konstantinos Varvagiannis, Bert BA de Vries, Lisenka ELM Vissers | Summary The diagnosis of | ## Diagnosis
No formal clinical diagnostic criteria exist for
Developmental delay or variable degrees of intellectual disability
One or more of the following:
Generalized hypotonia in infancy with or without associated oral hypotonia
Neonatal feeding difficulties, gastroesophageal reflux, and/or constipation
Beha... | [
"F Abdelhedi, L El Khattabi, N Essid, G Viot, D Letessier, A Lebbar, JM Dupont. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.. Am J Med Genet A. 2016;170:1912-7",
"C DeSanto, K D'Aco, GC Ar... | 30/11/2017 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
wagner | wagner | [
"Wagner Vitreoretinal Degeneration (Wagner Synrdome)",
"Erosive Vitreoretinopathy (ERVR)",
"Versican core protein",
"VCAN",
"VCAN-Related Vitreoretinopathy"
] | Barbara Kloeckener-Gruissem, Christoph Amstutz | Summary The diagnosis of | Wagner vitreoretinal degeneration (Wagner syndrome)
Erosive vitreoretinopathy (ERVR)
For synonyms and outdated names see
For other genetic causes of these phenotypes see
• Wagner vitreoretinal degeneration (Wagner syndrome)
• Erosive vitreoretinopathy (ERVR)
## Diagnosis
"Optically empty vitreous" on slit-lamp e... | [] | 3/2/2009 | 7/1/2016 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
wars2-def | wars2-def | [
"WARS2-Related Epilepsy",
"WARS2-Related Movement Disorder",
"Tryptophan--tRNA ligase, mitochondrial",
"WARS2",
"WARS2 Deficiency"
] | WARS2 Deficiency | Magdalena Mroczek, Aynekin Busra, Henry Houlden, Stephanie Efthymiou, Sara Nagy | Summary The current (but limited) understanding of the WARS2 deficiency phenotypic spectrum, based on 29 individuals from 24 families reported to date, can be viewed as a clustering of hallmark features within the broad phenotypes of epilepsy and movement disorder. Of note, the continua within and between the epilepsy ... | WARS2 Deficiency: Phenotypic Spectrum
Including developmental and epileptic encephalopathy (DEE) and other seizure types
Primarily levodopa-responsive parkinsonism/dystonia and progressive myoclonus-ataxia/hyperkinetic movement disorder
The
## Diagnosis
No consensus clinical diagnostic criteria for WARS2 deficienc... | [] | 12/10/2023 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
warsaw | warsaw | [
"Warsaw Breakage Syndrome (WABS)",
"Warsaw Syndrome",
"Warsaw Syndrome",
"Warsaw Breakage Syndrome (WABS)",
"ATP-dependent DNA helicase DDX11",
"DDX11",
"DDX11-Related Cohesinopathy"
] | Ebba Alkhunaizi, Robert M Brosh, David Chitayat | Summary The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Congenital severe microcephaly
Prenatal and postnatal growth restriction
Congenital sensorineural hearing loss due to cochlear abnormalities (e.g., cochlear hypoplasia)
Additional clinical, imaging, and laboratory findings include the following.
Intelle... | [] | 6/6/2019 | 5/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
was | was | [
"Wiskott-Aldrich Syndrome",
"X-Linked Thrombocytopenia (XLT)",
"X-Linked Neutropenia (XLN)",
"Actin nucleation-promoting factor WAS",
"WAS",
"WAS-Related Disorders"
] | Sharat Chandra, Chinmayee B Nagaraj, Miao Sun, Shanmuganathan Chandrakasan, Kejian Zhang | Summary The Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those w... | Wiskott-Aldrich syndrome
X-linked thrombocytopenia (XLT)
X-linked neutropenia (XLN)
For other genetic causes of these phenotypes see
• Wiskott-Aldrich syndrome
• X-linked thrombocytopenia (XLT)
• X-linked neutropenia (XLN)
## Diagnosis
Profound thrombocytopenia (<70,000 platelets/mm
Small platelet size (mean p... | [] | 30/9/2004 | 15/8/2024 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
wdr26-id | wdr26-id | [
"WD repeat-containing protein 26",
"WDR26",
"WDR26-Related Intellectual Disability"
] | Cara M Skraban, Katheryn L Grand, Matthew A Deardorff | Summary The diagnosis of | ## Diagnosis
Formal diagnostic criteria for
Developmental delay or intellectual disability of variable degree
Characteristic facial features including coarse features, prominent eyes with large-appearing irises, prominent maxilla, broad nasal tip, protruding upper lip, prominent upper gingiva, and widely spaced teet... | [
"PY Au, B Argiropoulos, JS Parboosingh, A Micheil Innes. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.. Am J Med Genet A. 2014;164A:441-8",
"C Balak, N Belnap, K Ramsey, S Joss, K Devriendt, M Naymik, W... | 25/4/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
wdr62-pm | wdr62-pm | [
"Autosomal Recessive Primary Microcephaly 2 With or Without Cortical Malformations",
"MCPH2",
"Autosomal Recessive Primary Microcephaly 2 With or Without Cortical Malformations",
"MCPH2",
"WD repeat-containing protein 62",
"WDR62",
"WDR62 Primary Microcephaly"
] | Alain Verloes, Lyse Ruaud, Séverine Drunat, Sandrine Passemard | Summary In The diagnosis of | ## Diagnosis
No consensus clinical diagnostic criteria for
Microcephaly, usually congenital (identified before birth by ultrasound examination) with an occipitofrontal circumference ≥2 standard deviations (SD) below the mean at birth. In some instances, microcephaly may occur after birth, but within the first year ... | [] | 17/2/2022 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |||
weaver | weaver | [
"EZH2-Related Weaver Syndrome",
"EZH2-Associated Weaver Syndrome",
"Histone-lysine N-methyltransferase EZH2",
"EZH2",
"EZH2-Related Overgrowth"
] | Sharon Ocansey, Katrina Tatton-Brown | Summary The diagnosis of | The scope of this
## Diagnosis
Tall stature (height or length ≥2 standard deviations [SD] above the mean)
Macrocephaly (head circumference ≥2 SD above the mean)
Intellectual disability
Characteristic facial appearance (See
In children younger than age three years: retrognathia, large, fleshy ears, and a "stuck ... | [] | 18/7/2013 | 21/3/2024 | 26/6/2025 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
weill-ms | weill-ms | [
"A disintegrin and metalloproteinase with thrombospondin motifs 10",
"A disintegrin and metalloproteinase with thrombospondin motifs 17",
"Fibrillin-1",
"Latent-transforming growth factor beta-binding protein 2",
"ADAMTS10",
"ADAMTS17",
"FBN1",
"LTBP2",
"Weill-Marchesani Syndrome"
] | Weill-Marchesani Syndrome | Pauline Marzin, Valérie Cormier-Daire, Ekaterini Tsilou | Summary Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secon... | ## Diagnosis
No consensus clinical diagnostic criteria for Weill-Marchesani syndrome (WMS) have been published.
WMS
Eye anomalies including microspherophakia and ectopia lentis
Short stature
Brachydactyly
Progressive joint stiffness
Thickened skin
Pseudomuscular build
Cardiovascular defects (e.g., patent duc... | [
"S Ben Yahia, F Ouechtati, B Jelliti, S Nouira, S Chakroun, S Abdelhak, M Khairallah. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.. J Hum Genet. 2009;54:550-3",
"A Cecchi, N Ogawa, HR Martinez, A Carlson, Y Fan, DJ Penny, DC Guo, S Eisenberg, H Safi, A Estr... | 1/11/2007 | 10/12/2020 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
weiss-kruszka | weiss-kruszka | [
"ZNF462 Disorder",
"ZNF462 Disorder",
"Zinc finger protein 462",
"ZNF462",
"Weiss-Kruszka Syndrome"
] | Weiss-Kruszka Syndrome | Paul Kruszka | Summary Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected ... | ## Diagnosis
Formal diagnostic criteria for Weiss-Kruszka syndrome have not been established.
Weiss-Kruszka syndrome
Metopic ridging or synostosis
Ptosis
Nonspecific dysmorphic features (see
Developmental delay and/or autistic features
The diagnosis of Weiss-Kruszka syndrome
A heterozygous pathogenic variant ... | [
"YS Chang, A Stoykova, K Chowdhury, P Gruss. Graded expression of Zfp462 in the embryonic mouse cerebral cortex.. Gene Expr Patterns. 2007;7:405-12",
"N Cosemans, L Vandenhove, J Maljaars, H Van Esch, K Devriendt, A Baldwin, JP Fryns, I Noens, H Peeters. ZNF462 and KLF12 are disrupted by a de novo translocation i... | 31/10/2019 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | ||
werner | werner | [
"Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN",
"WRN",
"Werner Syndrome"
] | Werner Syndrome | Junko Oshima, George M Martin, Fuki M Hisama | Summary Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually ... | ## Diagnosis
The diagnosis of Werner syndrome
Bilateral ocular cataracts (present in 99%) *
Premature graying and/or thinning of scalp hair (100%)
Characteristic dermatologic pathology (96%)
Short stature (95%)
Approximately 91% of affected individuals have all four cardinal signs.
The clinical diagnosis may be ... | [
"DK Arnett, RS Blumenthal, MA Albert, AB Buroker, ZD Goldberger, EJ Hahn, CD Himmelfarb, A Khera, D Lloyd-Jones, JW McEvoy, ED Michos, MD Miedema, D Munoz, SC Smith, SS Virani, KA Williams, J Yeboah, B Ziaeian. ACC/AHA guideline on the primary prevention of cardiovascular disease (2019). Circulation 2019;140:e596-e... | 2/12/2002 | 13/5/2021 | 13/12/2012 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
wfs | wfs | [
"Wolfram Syndrome-Like Disease",
"DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness",
"Wolfram Syndrome Type 1",
"Wolframin",
"WFS1",
"WFS1 Spectrum Disorder"
] | Timothy Barrett, Lisbeth Tranebjærg, Rajat Gupta, Liam McCarthy, Nanna Dahl Rendtorff, Denise Williams, Benjamin Wright, Renuka Dias | Summary There is no cure for | This
Evaluate an individual with one or two
Provide genetic counseling based on each family's genetic finding.
Wolfram syndrome type 1
DIDMOAD (
AD = autosomal dominant; AR = autosomal recessive
Includes isolated autosomal dominant
• Evaluate an individual with one or two
• Provide genetic counseling based on e... | [] | 24/2/2009 | 1/12/2022 | 2/6/2009 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] | |
white-sutton | white-sutton | [
"POGZ-Related Intellectual Disability Syndrome",
"POGZ-Related Intellectual Disability Syndrome",
"Pogo transposable element with ZNF domain",
"POGZ",
"White-Sutton Syndrome"
] | White-Sutton Syndrome | Nurit Assia Batzir, Janson White, V Reid Sutton | Summary White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, re... | ## Diagnosis
No consensus clinical diagnostic criteria for White-Sutton syndrome have been published.
White-Sutton syndrome
Mild-to-severe developmental delay, intellectual disability, or learning difficulties
Speech delay
AND
Any of the following features presenting in infancy or childhood:
Motor delay
Gen... | [
"N Assia Batzir, JE Posey, X Song, ZC Akdemir, JA Rosenfeld, CW Brown, E Chen, SG Holtrop, E Mizerik, M Nieto Moreno, K Payne, A Raas-Rothschild, R Scott, HJ Vernon, N Zadeh. Baylor-Hopkins Center for Mendelian G, Lupski JR, Sutton VR. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sut... | 16/9/2021 | GeneReviews® | https://www.ncbi.nlm.nih.gov/books/NBK1116/ | [
"Review",
"Clinical Review"
] |
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