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genetic changes | What are the genetic changes related to distal hereditary motor neuropathy, type V ? | Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape. Researc... |
inheritance | Is distal hereditary motor neuropathy, type V inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance. |
treatment | What are the treatments for distal hereditary motor neuropathy, type V ? | These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5 - Genet... |
information | What is (are) Muenke syndrome ? | Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the he... |
frequency | How many people are affected by Muenke syndrome ? | Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis. |
genetic changes | What are the genetic changes related to Muenke syndrome ? | Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, ... |
inheritance | Is Muenke syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Muenke syndrome ? | These resources address the diagnosis or management of Muenke syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Gene Review: Gene Review: Muenke Syndrome - Genetic Testing Registry: Muenke syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer in... |
information | What is (are) Gitelman syndrome ? | Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany)... |
frequency | How many people are affected by Gitelman syndrome ? | Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. |
genetic changes | What are the genetic changes related to Gitelman syndrome ? | Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene imp... |
inheritance | Is Gitelman syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Gitelman syndrome ? | These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati... |
information | What is (are) dentatorubral-pallidoluysian atrophy ? | Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The sig... |
frequency | How many people are affected by dentatorubral-pallidoluysian atrophy ? | DRPLA is most common in the Japanese population, where it has an estimated incidence of 2 to 7 per million people. This condition has also been seen in families from North America and Europe. Although DRPLA is rare in the United States, it has been studied in a large African American family from the Haw River area of ... |
genetic changes | What are the genetic changes related to dentatorubral-pallidoluysian atrophy ? | DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that underlies DRPLA involves a DNA segment kn... |
inheritance | Is dentatorubral-pallidoluysian atrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATN1 gene is passed from one generation to the next, the size of the CAG trinucleo... |
treatment | What are the treatments for dentatorubral-pallidoluysian atrophy ? | These resources address the diagnosis or management of DRPLA: - Gene Review: Gene Review: DRPLA - Genetic Testing Registry: Dentatorubral pallidoluysian atrophy - MedlinePlus Encyclopedia: Dementia - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and mana... |
information | What is (are) periventricular heterotopia ? | Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located aro... |
frequency | How many people are affected by periventricular heterotopia ? | Periventricular heterotopia is a rare condition. Its incidence is unknown. |
genetic changes | What are the genetic changes related to periventricular heterotopia ? | Periventricular heterotopia is related to chromosome 5. Mutations in the ARFGEF2 and FLNA genes cause periventricular heterotopia. In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of p... |
inheritance | Is periventricular heterotopia inherited ? | Periventricular heterotopia can have different inheritance patterns. When this condition is caused by mutations in the FLNA gene, it is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosom... |
treatment | What are the treatments for periventricular heterotopia ? | These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, ... |
information | What is (are) spastic paraplegia type 3A ? | Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types in... |
frequency | How many people are affected by spastic paraplegia type 3A ? | Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraple... |
genetic changes | What are the genetic changes related to spastic paraplegia type 3A ? | Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts... |
inheritance | Is spastic paraplegia type 3A inherited ? | Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent. |
treatment | What are the treatments for spastic paraplegia type 3A ? | These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies T... |
information | What is (are) sickle cell disease ? | Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and sympto... |
frequency | How many people are affected by sickle cell disease ? | Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Sickle cell dis... |
genetic changes | What are the genetic changes related to sickle cell disease ? | Mutations in the HBB gene cause sickle cell disease. Hemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene.... |
inheritance | Is sickle cell disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for sickle cell disease ? | These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (U... |
information | What is (are) histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histioc... |
frequency | How many people are affected by histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting approximately 100 individuals worldwide. |
genetic changes | What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. With chemical modification, nucleoside... |
inheritance | Is histiocytosis-lymphadenopathy plus syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for histiocytosis-lymphadenopathy plus syndrome ? | These resources address the diagnosis or management of histiocytosis-lymphadenopathy plus syndrome: - Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T... |
information | What is (are) distal myopathy 2 ? | Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known ... |
frequency | How many people are affected by distal myopathy 2 ? | The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature. |
genetic changes | What are the genetic changes related to distal myopathy 2 ? | A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus a... |
inheritance | Is distal myopathy 2 inherited ? | Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for distal myopathy 2 ? | These resources address the diagnosis or management of distal myopathy 2: - Genetic Testing Registry: Myopathy, distal, 2 - MedlinePlus Encyclopedia: Muscular Dystrophy - National Institute of Neurological Disorders and Stroke: Muscular Dystrophy: Hope Through Research These resources from MedlinePlus offer inform... |
information | What is (are) adenylosuccinate lyase deficiency ? | Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with ... |
frequency | How many people are affected by adenylosuccinate lyase deficiency ? | Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases have been reported. The condition is most common in the Netherlands and Belgium, but it has been found worldwide. |
genetic changes | What are the genetic changes related to adenylosuccinate lyase deficiency ? | All forms of adenylosuccinate lyase deficiency are caused by mutations in the ADSL gene. This gene provides instructions for making an enzyme called adenylosuccinate lyase, which performs two steps in the process that produces purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, an... |
inheritance | Is adenylosuccinate lyase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for adenylosuccinate lyase deficiency ? | These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery an... |
information | What is (are) pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial l... |
frequency | How many people are affected by pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is unknown. About 600 affected individuals have been described in the medical literature, of whom about a quarter are of Turkish descent. The remainder come from populations worldwide. |
genetic changes | What are the genetic changes related to pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene. This gene provides instructions for making a protein called the type IIb sodium-phosphate cotransporter, which plays a role in the regulation of phosphate levels (phosphate homeostasis). Although this protein can be found in several organs an... |
inheritance | Is pulmonary alveolar microlithiasis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for pulmonary alveolar microlithiasis ? | These resources address the diagnosis or management of pulmonary alveolar microlithiasis: - Genetic Testing Registry: Pulmonary alveolar microlithiasis - MedlinePlus Health Topic: Oxygen Therapy - MedlinePlus Health Topic: Pulmonary Rehabilitation - National Jewish Health: Interstitial Lung Disease - Rare Diseases... |
information | What is (are) Wagner syndrome ? | Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although the vision impairment might not be immediately apparent. In people with Wagner syndrome, the light-sensitive tissue that lines the back of the eye (the retina) ... |
frequency | How many people are affected by Wagner syndrome ? | Wagner syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been described worldwide; about half of these individuals are from the Netherlands. |
genetic changes | What are the genetic changes related to Wagner syndrome ? | Mutations in the VCAN gene cause Wagner syndrome. The VCAN gene provides instructions for making a protein called versican. Versican is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Versican interacts with many of these proteins... |
inheritance | Is Wagner syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Wagner syndrome ? | These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... |
information | What is (are) Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloods... |
frequency | How many people are affected by Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bl... |
inheritance | Is Rabson-Mendenhall syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Rabson-Mendenhall syndrome ? | These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - S... |
information | What is (are) aspartylglucosaminuria ? | Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mild... |
frequency | How many people are affected by aspartylglucosaminuria ? | Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, but the incidence is unknown. |
genetic changes | What are the genetic changes related to aspartylglucosaminuria ? | Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecul... |
inheritance | Is aspartylglucosaminuria inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for aspartylglucosaminuria ? | These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge... |
information | What is (are) adenine phosphoribosyltransferase deficiency ? | Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, cau... |
frequency | How many people are affected by adenine phosphoribosyltransferase deficiency ? | APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The condition is rarer in Europe, where it is thought to affect 1 in 50,000 to 100,000 people. The prevalence of APRT deficiency outside these populations is unknown. |
genetic changes | What are the genetic changes related to adenine phosphoribosyltransferase deficiency ? | Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mu... |
inheritance | Is adenine phosphoribosyltransferase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for adenine phosphoribosyltransferase deficiency ? | These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency Th... |
information | What is (are) FG syndrome ? | FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which range... |
frequency | How many people are affected by FG syndrome ? | The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders. |
genetic changes | What are the genetic changes related to FG syndrome ? | Researchers have identified changes in five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in a gene called MED12, which is located in one of these regions, appear to be the most common cause of the disorder. Researchers are investigating genes in other regions of the X chrom... |
inheritance | Is FG syndrome inherited ? | FG syndrome is inherited in an X-linked recessive pattern. The genes likely associated with this disorder, including MED12, are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.... |
treatment | What are the treatments for FG syndrome ? | These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Genetic Testing Registry: FG syndrome 4 - Genetic Testing Registry: ... |
information | What is (are) leukocyte adhesion deficiency type 1 ? | Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from bir... |
frequency | How many people are affected by leukocyte adhesion deficiency type 1 ? | Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million people worldwide. At least 300 cases of this condition have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to leukocyte adhesion deficiency type 1 ? | Mutations in the ITGB2 gene cause leukocyte adhesion deficiency type 1. This gene provides instructions for making one part (the 2 subunit) of at least four different proteins known as 2 integrins. Integrins that contain the 2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). The... |
inheritance | Is leukocyte adhesion deficiency type 1 inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for leukocyte adhesion deficiency type 1 ? | These resources address the diagnosis or management of leukocyte adhesion deficiency type 1: - Genetic Testing Registry: Leukocyte adhesion deficiency type 1 - MedlinePlus Encyclopedia: Gingivitis - MedlinePlus Encyclopedia: Immunodeficiency Disorders - Primary Immune Deficiency Treatment Consortium These resourc... |
information | What is (are) Menkes syndrome ? | Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features,... |
frequency | How many people are affected by Menkes syndrome ? | The incidence of Menkes syndrome and occipital horn syndrome is estimated to be 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to Menkes syndrome ? | Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribu... |
inheritance | Is Menkes syndrome inherited ? | Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have ... |
treatment | What are the treatments for Menkes syndrome ? | These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus Encyclopedia: Menkes syndrome These resources from MedlinePlu... |
information | What is (are) pseudoachondroplasia ? | Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoac... |
frequency | How many people are affected by pseudoachondroplasia ? | The exact prevalence of pseudoachondroplasia is unknown; it is estimated to occur in 1 in 30,000 individuals. |
genetic changes | What are the genetic changes related to pseudoachondroplasia ? | Mutations in the COMP gene cause pseudoachondroplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later... |
inheritance | Is pseudoachondroplasia inherited ? | Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Most cases result from new mutations in the gene and occur in people with no h... |
treatment | What are the treatments for pseudoachondroplasia ? | These resources address the diagnosis or management of pseudoachondroplasia: - Gene Review: Gene Review: Pseudoachondroplasia - Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various healt... |
information | What is (are) lacrimo-auriculo-dento-digital syndrome ? | Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The l... |
frequency | How many people are affected by lacrimo-auriculo-dento-digital syndrome ? | LADD syndrome appears to be a rare condition; at least 60 cases have been described in the scientific literature. |
genetic changes | What are the genetic changes related to lacrimo-auriculo-dento-digital syndrome ? | Mutations in the FGFR2, FGFR3, or FGF10 gene can cause LADD syndrome. The FGFR2 and FGFR3 genes provide instructions for making proteins that are part of a family called fibroblast growth factor receptors. The FGF10 gene provides instructions for making a protein called a fibroblast growth factor, which is a family of... |
inheritance | Is lacrimo-auriculo-dento-digital syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means a mutation in one copy of the FGFR2, FGFR3, or FGF10 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and o... |
treatment | What are the treatments for lacrimo-auriculo-dento-digital syndrome ? | These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry... |
information | What is (are) alternating hemiplegia of childhood ? | Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begi... |
frequency | How many people are affected by alternating hemiplegia of childhood ? | Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people. |
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