problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) spinocerebellar ataxia type 36 ? | Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and probl... | spinocerebellar ataxia type 36 |
How many people are affected by spinocerebellar ataxia type 36 ? | Approximately 100 individuals with SCA36 have been reported in the scientific literature. Almost all of these individuals have been from two regions: western Japan and the Costa de Morte in Galicia, Spain. | spinocerebellar ataxia type 36 |
What are the genetic changes related to spinocerebellar ataxia type 36 ? | SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is com... | spinocerebellar ataxia type 36 |
Is spinocerebellar ataxia type 36 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. In conditions that are caused by repeated segments of DNA, the number of repeats often increases... | spinocerebellar ataxia type 36 |
What are the treatments for spinocerebellar ataxia type 36 ? | These resources address the diagnosis or management of spinocerebellar ataxia type 36: - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia - Gene Review: Gene Review: Spinocerebellar Ataxia Typ... | spinocerebellar ataxia type 36 |
What is (are) Laing distal myopathy ? | Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to... | Laing distal myopathy |
How many people are affected by Laing distal myopathy ? | Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide. | Laing distal myopathy |
What are the genetic changes related to Laing distal myopathy ? | Mutations in the MYH7 gene cause Laing distal myopathy. The MYH7 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I f... | Laing distal myopathy |
Is Laing distal myopathy 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 inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. These cases occur... | Laing distal myopathy |
What are the treatments for Laing distal myopathy ? | These resources address the diagnosis or management of Laing distal myopathy: - Gene Review: Gene Review: Laing Distal Myopathy - Genetic Testing Registry: Myopathy, distal, 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... | Laing distal myopathy |
What is (are) Graves disease ? | Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cy... | Graves disease |
How many people are affected by Graves disease ? | Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States. | Graves disease |
What are the genetic changes related to Graves disease ? | Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Graves disease is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues a... | Graves disease |
Is Graves disease inherited ? | The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition. | Graves disease |
What are the treatments for Graves disease ? | These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves disease, susceptibility to, X-linked 1 - Genetic Testing Registr... | Graves disease |
What is (are) acral peeling skin syndrome ? | Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth... | acral peeling skin syndrome |
How many people are affected by acral peeling skin syndrome ? | Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed. | acral peeling skin syndrome |
What are the genetic changes related to acral peeling skin syndrome ? | Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelop... | acral peeling skin syndrome |
Is acral peeling skin 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. | acral peeling skin syndrome |
What are the treatments for acral peeling skin syndrome ? | These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type These resources from MedlinePlus offer information about the diagnosis and management of various health con... | acral peeling skin syndrome |
What is (are) Marfan syndrome ? | Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate o... | Marfan syndrome |
How many people are affected by Marfan syndrome ? | The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. | Marfan syndrome |
What are the genetic changes related to Marfan syndrome ? | Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and... | Marfan syndrome |
Is Marfan 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. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family. | Marfan syndrome |
What are the treatments for Marfan syndrome ? | These resources address the diagnosis or management of Marfan syndrome: - Gene Review: Gene Review: Marfan Syndrome - Genetic Testing Registry: Marfan syndrome - MarfanDX - MedlinePlus Encyclopedia: Aortic Dissection - MedlinePlus Encyclopedia: Marfan Syndrome - MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm ... | Marfan syndrome |
What is (are) optic atrophy type 1 ? | Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range fr... | optic atrophy type 1 |
How many people are affected by optic atrophy type 1 ? | Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people. | optic atrophy type 1 |
What are the genetic changes related to optic atrophy type 1 ? | Optic atrophy type 1 is caused by mutations in the OPA1 gene. The protein produced from this gene is made in many types of cells and tissues throughout the body. The OPA1 protein is found inside mitochondria, which are the energy-producing centers of cells. The OPA1 protein plays a key role in the organization of the s... | optic atrophy type 1 |
Is optic atrophy type 1 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. | optic atrophy type 1 |
What are the treatments for optic atrophy type 1 ? | These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlu... | optic atrophy type 1 |
What is (are) intestinal pseudo-obstruction ? | Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogen... | intestinal pseudo-obstruction |
How many people are affected by intestinal pseudo-obstruction ? | Primary intestinal pseudo-obstruction is a rare disorder. Its prevalence is unknown. The prevalence of secondary intestinal pseudo-obstruction is also unknown, but it is believed to be more common than the primary form. | intestinal pseudo-obstruction |
What are the genetic changes related to intestinal pseudo-obstruction ? | In some individuals with primary intestinal pseudo-obstruction, the condition is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and ... | intestinal pseudo-obstruction |
Is intestinal pseudo-obstruction inherited ? | Intestinal pseudo-obstruction is often not inherited. When it does run in families, it can have different inheritance patterns. Intestinal pseudo-obstruction caused by FLNA gene mutations is inherited in an X-linked recessive pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosome... | intestinal pseudo-obstruction |
What are the treatments for intestinal pseudo-obstruction ? | These resources address the diagnosis or management of intestinal pseudo-obstruction: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Intestinal pseudoobstruction neuronal chronic idiopathic X-linked - Genetic Testing Registry: Natal teeth, intestinal pseudoobstruction and patent ductus - Genetic Te... | intestinal pseudo-obstruction |
What is (are) CATSPER1-related nonsyndromic male infertility ? | CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are ... | CATSPER1-related nonsyndromic male infertility |
How many people are affected by CATSPER1-related nonsyndromic male infertility ? | The prevalence of CATSPER1-related nonsyndromic male infertility is unknown. | CATSPER1-related nonsyndromic male infertility |
What are the genetic changes related to CATSPER1-related nonsyndromic male infertility ? | Mutations in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cel... | CATSPER1-related nonsyndromic male infertility |
Is CATSPER1-related nonsyndromic male infertility 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 symptoms of the condition. Males with two CATSPER1 g... | CATSPER1-related nonsyndromic male infertility |
What are the treatments for CATSPER1-related nonsyndromic male infertility ? | These resources address the diagnosis or management of CATSPER1-related nonsyndromic male infertility: - Cleveland Clinic: Male Infertility - Gene Review: Gene Review: CATSPER-Related Male Infertility - Genetic Testing Registry: CATSPER-Related Male Infertility - MedlinePlus Health Topic: Assisted Reproductive Tech... | CATSPER1-related nonsyndromic male infertility |
What is (are) mucolipidosis III alpha/beta ? | Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to ... | mucolipidosis III alpha/beta |
How many people are affected by mucolipidosis III alpha/beta ? | Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide. | mucolipidosis III alpha/beta |
What are the genetic changes related to mucolipidosis III alpha/beta ? | Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enz... | mucolipidosis III alpha/beta |
Is mucolipidosis III alpha/beta 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. | mucolipidosis III alpha/beta |
What are the treatments for mucolipidosis III alpha/beta ? | These resources address the diagnosis or management of mucolipidosis III alpha/beta: - Gene Review: Gene Review: Mucolipidosis III Alpha/Beta - Genetic Testing Registry: Pseudo-Hurler polydystrophy - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus ... | mucolipidosis III alpha/beta |
What is (are) catecholaminergic polymorphic ventricular tachycardia ? | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of vent... | catecholaminergic polymorphic ventricular tachycardia |
How many people are affected by catecholaminergic polymorphic ventricular tachycardia ? | The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown. | catecholaminergic polymorphic ventricular tachycardia |
What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ? | CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2... | catecholaminergic polymorphic ventricular tachycardia |
Is catecholaminergic polymorphic ventricular tachycardia inherited ? | When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected par... | catecholaminergic polymorphic ventricular tachycardia |
What are the treatments for catecholaminergic polymorphic ventricular tachycardia ? | These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycard... | catecholaminergic polymorphic ventricular tachycardia |
What is (are) nonsyndromic hearing loss ? | Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the con... | nonsyndromic hearing loss |
How many people are affected by nonsyndromic hearing loss ? | Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience ... | nonsyndromic hearing loss |
What are the genetic changes related to nonsyndromic hearing loss ? | The causes of nonsyndromic hearing loss are complex. Researchers have identified more than 90 genes that, when altered, are associated with nonsyndromic hearing loss. Many of these genes are involved in the development and function of the inner ear. Mutations in these genes contribute to hearing loss by interfering wit... | nonsyndromic hearing loss |
Is nonsyndromic hearing loss inherited ? | As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries on... | nonsyndromic hearing loss |
What are the treatments for nonsyndromic hearing loss ? | These resources address the diagnosis or management of nonsyndromic hearing loss: - Baby's First Test: Hearing Loss - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview - Genetic Testing Registry: Deafness, X-linked - Genetic Testing Registry: Hereditary hearing loss and deafness - Genetic Tes... | nonsyndromic hearing loss |
What is (are) congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips... | congenital contractural arachnodactyly |
How many people are affected by congenital contractural arachnodactyly ? | The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. | congenital contractural arachnodactyly |
What are the genetic changes related to congenital contractural arachnodactyly ? | Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibi... | congenital contractural arachnodactyly |
Is congenital contractural arachnodactyly 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. | congenital contractural arachnodactyly |
What are the treatments for congenital contractural arachnodactyly ? | These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Defo... | congenital contractural arachnodactyly |
What is (are) Joubert syndrome ? | Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies su... | Joubert syndrome |
How many people are affected by Joubert syndrome ? | Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed. | Joubert syndrome |
What are the genetic changes related to Joubert syndrome ? | Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signal... | Joubert syndrome |
Is Joubert syndrome inherited ? | Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a 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 usually do not show signs and symptoms of the condition. Rare... | Joubert syndrome |
What are the treatments for Joubert syndrome ? | These resources address the diagnosis or management of Joubert syndrome: - Gene Review: Gene Review: Joubert Syndrome and Related Disorders - Genetic Testing Registry: Familial aplasia of the vermis - Genetic Testing Registry: Joubert syndrome 10 - Genetic Testing Registry: Joubert syndrome 2 - Genetic Testing Reg... | Joubert syndrome |
What is (are) fibrodysplasia ossificans progressiva ? | Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in ea... | fibrodysplasia ossificans progressiva |
How many people are affected by fibrodysplasia ossificans progressiva ? | Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported. | fibrodysplasia ossificans progressiva |
What are the genetic changes related to fibrodysplasia ossificans progressiva ? | Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to ... | fibrodysplasia ossificans progressiva |
Is fibrodysplasia ossificans progressiva 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. Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family... | fibrodysplasia ossificans progressiva |
What are the treatments for fibrodysplasia ossificans progressiva ? | These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery ... | fibrodysplasia ossificans progressiva |
What is (are) ataxia with oculomotor apraxia ? | Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. ... | ataxia with oculomotor apraxia |
How many people are affected by ataxia with oculomotor apraxia ? | Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 individuals worldwide. | ataxia with oculomotor apraxia |
What are the genetic changes related to ataxia with oculomotor apraxia ? | Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair. Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads ... | ataxia with oculomotor apraxia |
Is ataxia with oculomotor apraxia 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. | ataxia with oculomotor apraxia |
What are the treatments for ataxia with oculomotor apraxia ? | These resources address the diagnosis or management of ataxia with oculomotor apraxia: - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1 - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2 - Genetic Testing Registry: Adult onset ataxia with oculomotor apraxia - Genetic Testing Registry... | ataxia with oculomotor apraxia |
What is (are) SADDAN ? | SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the le... | SADDAN |
How many people are affected by SADDAN ? | This disorder is very rare; it has been described in only a small number of individuals worldwide. | SADDAN |
What are the genetic changes related to SADDAN ? | Mutations in the FGFR3 gene cause SADDAN. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A mutation in this gene may cause the FGFR3 protein to be overly active, which leads to the disturbances in bone growth that are characteristi... | SADDAN |
Is SADDAN inherited ? | SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene and occurred in people with no history of the disorder in their family. No individuals w... | SADDAN |
What are the treatments for SADDAN ? | These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans These resources from MedlinePlus offer information about the... | SADDAN |
What is (are) COL4A1-related brain small-vessel disease ? | COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. S... | COL4A1-related brain small-vessel disease |
How many people are affected by COL4A1-related brain small-vessel disease ? | COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature. | COL4A1-related brain small-vessel disease |
What are the genetic changes related to COL4A1-related brain small-vessel disease ? | As the name suggests, mutations in the COL4A1 gene cause COL4A1-related brain small vessel disease. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main c... | COL4A1-related brain small-vessel disease |
Is COL4A1-related brain small-vessel disease 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. Rarely, new mutations in the gene occur in people with no history of the disorder in their family. | COL4A1-related brain small-vessel disease |
What are the treatments for COL4A1-related brain small-vessel disease ? | These resources address the diagnosis or management of COL4A1-related brain small-vessel disease: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Brain small vessel disease with hemorrhage These resources from MedlinePlus offer information about the diagnosis and management of vario... | COL4A1-related brain small-vessel disease |
What is (are) Stargardt macular degeneration ? | Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The ma... | Stargardt macular degeneration |
How many people are affected by Stargardt macular degeneration ? | Stargardt macular degeneration is the most common form of juvenile macular degeneration, the signs and symptoms of which begin in childhood. The estimated prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 individuals. | Stargardt macular degeneration |
What are the genetic changes related to Stargardt macular degeneration ? | In most cases, Stargardt macular degeneration is caused by mutations in the ABCA4 gene. Less often, mutations in the ELOVL4 gene cause this condition. The ABCA4 and ELOVL4 genes provide instructions for making proteins that are found in light-sensing (photoreceptor) cells in the retina. The ABCA4 protein transports po... | Stargardt macular degeneration |
Is Stargardt macular degeneration inherited ? | Stargardt macular degeneration can have different inheritance patterns. When mutations in the ABCA4 gene cause this condition, it 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 carr... | Stargardt macular degeneration |
What are the treatments for Stargardt macular degeneration ? | These resources address the diagnosis or management of Stargardt macular degeneration: - Genetic Testing Registry: Stargardt Disease 3 - Genetic Testing Registry: Stargardt disease 1 - Genetic Testing Registry: Stargardt disease 4 These resources from MedlinePlus offer information about the diagnosis and managemen... | Stargardt macular degeneration |
What is (are) 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during ... | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
How many people are affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? | HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain. | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
What are the genetic changes related to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? | Mutations in the HMGCL gene cause HMG-CoA lyase deficiency. The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in breaking down dietary proteins and fats for energy. Specifically, it is responsible for p... | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
Is 3-hydroxy-3-methylglutaryl-CoA 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. | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
What are the treatments for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ? | These resources address the diagnosis or management of HMG-CoA lyase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of hydroxymethylglutaryl-CoA lyase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
What is (are) Czech dysplasia ? | Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia ... | Czech dysplasia |
How many people are affected by Czech dysplasia ? | The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic. | Czech dysplasia |
What are the genetic changes related to Czech dysplasia ? | Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes u... | Czech dysplasia |
Is Czech dysplasia inherited ? | Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition. | Czech dysplasia |
What are the treatments for Czech dysplasia ? | These resources address the diagnosis or management of Czech dysplasia: - Genetic Testing Registry: Czech dysplasia metatarsal type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | Czech dysplasia |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.