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What is (are) Stickler syndrome ? | Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This app... | Stickler syndrome |
How many people are affected by Stickler syndrome ? | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition. | Stickler syndrome |
What are the genetic changes related to Stickler syndrome ? | Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which m... | Stickler syndrome |
Is Stickler syndrome inherited ? | Stickler syndrome types I, II, and III are 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 a gene mutation from one affected parent. Other cases result from new mutations. These cases occur ... | Stickler syndrome |
What are the treatments for Stickler syndrome ? | These resources address the diagnosis or management of Stickler syndrome: - Gene Review: Gene Review: Stickler Syndrome - Genetic Testing Registry: Marshall syndrome - Genetic Testing Registry: Stickler syndrome - MedlinePlus Encyclopedia: Pierre Robin Syndrome - Merck Manual Consumer Version: Detachment of the Re... | Stickler syndrome |
What is (are) Klippel-Feil syndrome ? | Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back o... | Klippel-Feil syndrome |
How many people are affected by Klippel-Feil syndrome ? | Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males. | Klippel-Feil syndrome |
What are the genetic changes related to Klippel-Feil syndrome ? | Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved... | Klippel-Feil syndrome |
Is Klippel-Feil syndrome inherited ? | When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome is inherited in an autosomal recess... | Klippel-Feil syndrome |
What are the treatments for Klippel-Feil syndrome ? | These resources address the diagnosis or management of Klippel-Feil syndrome: - Genetic Testing Registry: Klippel Feil syndrome - Genetic Testing Registry: Klippel-Feil syndrome 1, autosomal dominant - Genetic Testing Registry: Klippel-Feil syndrome 2, autosomal recessive - Genetic Testing Registry: Klippel-Feil sy... | Klippel-Feil syndrome |
What is (are) 17 alpha-hydroxylase/17,20-lyase deficiency ? | 17 alpha()-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adren... | 17 alpha-hydroxylase/17,20-lyase deficiency |
How many people are affected by 17 alpha-hydroxylase/17,20-lyase deficiency ? | 17-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide. | 17 alpha-hydroxylase/17,20-lyase deficiency |
What are the genetic changes related to 17 alpha-hydroxylase/17,20-lyase deficiency ? | 17-hydroxylase/17,20-lyase deficiency is caused by mutations in the CYP17A1 gene. The protein produced from this gene is involved in the formation of steroid hormones. This group of hormones includes sex hormones such as testosterone and estrogen, which are needed for normal sexual development and reproduction; mineral... | 17 alpha-hydroxylase/17,20-lyase deficiency |
Is 17 alpha-hydroxylase/17,20-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. | 17 alpha-hydroxylase/17,20-lyase deficiency |
What are the treatments for 17 alpha-hydroxylase/17,20-lyase deficiency ? | These resources address the diagnosis or management of 17 alpha-hydroxylase/17,20-lyase deficiency: - Genetic Testing Registry: Deficiency of steroid 17-alpha-monooxygenase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | 17 alpha-hydroxylase/17,20-lyase deficiency |
What is (are) spastic paraplegia type 15 ? | Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex hereditary sp... | spastic paraplegia type 15 |
How many people are affected by spastic paraplegia type 15 ? | Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown. | spastic paraplegia type 15 |
What are the genetic changes related to spastic paraplegia type 15 ? | Mutations in the ZFYVE26 gene cause spastic paraplegia type 15. This gene provides instructions for making a protein called spastizin. This protein is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. Specifically, spastizin is involved in the formati... | spastic paraplegia type 15 |
Is spastic paraplegia type 15 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. | spastic paraplegia type 15 |
What are the treatments for spastic paraplegia type 15 ? | These resources address the diagnosis or management of spastic paraplegia type 15: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Spastic Paraplegia Foundation, Inc: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health... | spastic paraplegia type 15 |
What is (are) Char syndrome ? | Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome have a characteristic facial app... | Char syndrome |
How many people are affected by Char syndrome ? | Char syndrome is rare, although its exact incidence is unknown. Only a few families with this condition have been identified worldwide. | Char syndrome |
What are the genetic changes related to Char syndrome ? | Mutations in the TFAP2B gene cause Char syndrome. This gene provides instructions for making a protein known as transcription factor AP-2. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes th... | Char syndrome |
Is Char 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. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene and occur in people with no hi... | Char syndrome |
What are the treatments for Char syndrome ? | These resources address the diagnosis or management of Char syndrome: - Gene Review: Gene Review: Char Syndrome - Genetic Testing Registry: Char syndrome - MedlinePlus Encyclopedia: Patent Ductus Arteriosus These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | Char syndrome |
What is (are) nonsyndromic holoprosencephaly ? | Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called no... | nonsyndromic holoprosencephaly |
How many people are affected by nonsyndromic holoprosencephaly ? | Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns. | nonsyndromic holoprosencephaly |
What are the genetic changes related to nonsyndromic holoprosencephaly ? | Mutations in 11 genes have been found to cause nonsyndromic holoprosencephaly. These genes provide instructions for making proteins that are important for normal embryonic development, particularly for determining the shape of the brain and face. About 25 percent of people with nonsyndromic holoprosencephaly have a mut... | nonsyndromic holoprosencephaly |
Is nonsyndromic holoprosencephaly inherited ? | Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. In some cases, an affected person inheri... | nonsyndromic holoprosencephaly |
What are the treatments for nonsyndromic holoprosencephaly ? | These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Testing Registry: Holoprosencephaly 2 - Genetic Testing Registry: ... | nonsyndromic holoprosencephaly |
What is (are) lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with la... | lactate dehydrogenase deficiency |
How many people are affected by lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a rare disorder. In Japan, this condition affects 1 in 1 million individuals; the prevalence of lactate dehydrogenase deficiency in other countries is unknown. | lactate dehydrogenase deficiency |
What are the genetic changes related to lactate dehydrogenase deficiency ? | Mutations in the LDHA gene cause lactate dehydrogenase-A deficiency, and mutations in the LDHB gene cause lactate dehydrogenase-B deficiency. These genes provide instructions for making the lactate dehydrogenase-A and lactate dehydrogenase-B pieces (subunits) of the lactate dehydrogenase enzyme. This enzyme is found th... | lactate dehydrogenase deficiency |
Is lactate dehydrogenase 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. | lactate dehydrogenase deficiency |
What are the treatments for lactate dehydrogenase deficiency ? | These resources address the diagnosis or management of lactate dehydrogenase deficiency: - Genetic Testing Registry: Glycogen storage disease XI - Genetic Testing Registry: Lactate dehydrogenase B deficiency - MedlinePlus Encyclopedia: LDH Isoenzymes - MedlinePlus Encyclopedia: Lactate Dehydrogenase Test These re... | lactate dehydrogenase deficiency |
What is (are) Diamond-Blackfan anemia ? | Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usual... | Diamond-Blackfan anemia |
How many people are affected by Diamond-Blackfan anemia ? | Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn infants worldwide. | Diamond-Blackfan anemia |
What are the genetic changes related to Diamond-Blackfan anemia ? | Diamond-Blackfan anemia can be caused by mutations in the RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 genes. These genes provide instructions for making several of the approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the ... | Diamond-Blackfan anemia |
Is Diamond-Blackfan anemia 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 approximately 45 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and... | Diamond-Blackfan anemia |
What are the treatments for Diamond-Blackfan anemia ? | These resources address the diagnosis or management of Diamond-Blackfan anemia: - Gene Review: Gene Review: Diamond-Blackfan Anemia - Genetic Testing Registry: Aase syndrome - Genetic Testing Registry: Diamond-Blackfan anemia - Genetic Testing Registry: Diamond-Blackfan anemia 10 - Genetic Testing Registry: Diamon... | Diamond-Blackfan anemia |
What is (are) Kawasaki disease ? | Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and r... | Kawasaki disease |
How many people are affected by Kawasaki disease ? | In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan. | Kawasaki disease |
What are the genetic changes related to Kawasaki disease ? | The causes of Kawasaki disease are not well understood. The disorder is generally regarded as being the result of an abnormal immune system activation, but the triggers of this abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an i... | Kawasaki disease |
Is Kawasaki disease inherited ? | A predisposition to Kawasaki disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the risk of developing the disorder compared to the general population. Children with affected siblings have a tenfold higher ri... | Kawasaki disease |
What are the treatments for Kawasaki disease ? | These resources address the diagnosis or management of Kawasaki disease: - Cincinnati Children's Hospital Medical Center - Genetic Testing Registry: Acute febrile mucocutaneous lymph node syndrome - National Heart, Lung, and Blood Institute: How is Kawasaki Disease Treated? These resources from MedlinePlus offer i... | Kawasaki disease |
What is (are) autosomal dominant hypocalcemia ? | Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypoca... | autosomal dominant hypocalcemia |
How many people are affected by autosomal dominant hypocalcemia ? | The prevalence of autosomal dominant hypocalcemia is unknown. The condition is likely underdiagnosed because it often causes no signs or symptoms. | autosomal dominant hypocalcemia |
What are the genetic changes related to autosomal dominant hypocalcemia ? | Autosomal dominant hypocalcemia is primarily caused by mutations in the CASR gene; these cases are known as type 1. A small percentage of cases, known as type 2, are caused by mutations in the GNA11 gene. The proteins produced from these genes work together to regulate the amount of calcium in the blood. The CASR gene... | autosomal dominant hypocalcemia |
Is autosomal dominant hypocalcemia 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 number of cases result from new mutations in the gene and occur in people wi... | autosomal dominant hypocalcemia |
What are the treatments for autosomal dominant hypocalcemia ? | These resources address the diagnosis or management of autosomal dominant hypocalcemia: - Genetic Testing Registry: Autosomal dominant hypocalcemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | autosomal dominant hypocalcemia |
What is (are) PMM2-congenital disorder of glycosylation ? | PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same fami... | PMM2-congenital disorder of glycosylation |
How many people are affected by PMM2-congenital disorder of glycosylation ? | More than 800 individuals with PMM2-CDG have been identified worldwide. | PMM2-congenital disorder of glycosylation |
What are the genetic changes related to PMM2-congenital disorder of glycosylation ? | PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can p... | PMM2-congenital disorder of glycosylation |
Is PMM2-congenital disorder of glycosylation 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. | PMM2-congenital disorder of glycosylation |
What are the treatments for PMM2-congenital disorder of glycosylation ? | These resources address the diagnosis or management of PMM2-CDG: - Gene Review: Gene Review: PMM2-CDG (CDG-Ia) - Genetic Testing Registry: Carbohydrate-deficient glycoprotein syndrome type I These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | PMM2-congenital disorder of glycosylation |
What is (are) carnitine palmitoyltransferase I deficiency ? | Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood.... | carnitine palmitoyltransferase I deficiency |
How many people are affected by carnitine palmitoyltransferase I deficiency ? | CPT I deficiency is a rare disorder; fewer than 50 affected individuals have been identified. This disorder may be more common in the Hutterite and Inuit populations. | carnitine palmitoyltransferase I deficiency |
What are the genetic changes related to carnitine palmitoyltransferase I deficiency ? | Mutations in the CPT1A gene cause CPT I deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 1A, which is found in the liver. Carnitine palmitoyltransferase 1A is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and ... | carnitine palmitoyltransferase I deficiency |
Is carnitine palmitoyltransferase I 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. | carnitine palmitoyltransferase I deficiency |
What are the treatments for carnitine palmitoyltransferase I deficiency ? | These resources address the diagnosis or management of CPT I deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase 1A Deficiency - Genetic Testi... | carnitine palmitoyltransferase I deficiency |
What is (are) inherited thyroxine-binding globulin deficiency ? | Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in reg... | inherited thyroxine-binding globulin deficiency |
How many people are affected by inherited thyroxine-binding globulin deficiency ? | The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel. | inherited thyroxine-binding globulin deficiency |
What are the genetic changes related to inherited thyroxine-binding globulin deficiency ? | Inherited thyroxine-binding globulin deficiency results from mutations in the SERPINA7 gene. This gene provides instructions for making thyroxine-binding globulin. Some mutations in the SERPINA7 gene prevent the production of a functional protein, causing TBG-CD. Other mutations reduce the amount of this protein or alt... | inherited thyroxine-binding globulin deficiency |
Is inherited thyroxine-binding globulin deficiency inherited ? | Inherited thyroxine-binding globulin deficiency has an X-linked pattern of inheritance. The SERPINA7 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes partial or complete inherited thyroxi... | inherited thyroxine-binding globulin deficiency |
What are the treatments for inherited thyroxine-binding globulin deficiency ? | These resources address the diagnosis or management of inherited thyroxine-binding globulin deficiency: - American Thyroid Association: Thyroid Function Tests - MedlinePlus Encyclopedia: Serum TBG Level These resources from MedlinePlus offer information about the diagnosis and management of various health condition... | inherited thyroxine-binding globulin deficiency |
What is (are) dyserythropoietic anemia and thrombocytopenia ? | Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red bloo... | dyserythropoietic anemia and thrombocytopenia |
How many people are affected by dyserythropoietic anemia and thrombocytopenia ? | Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia. | dyserythropoietic anemia and thrombocytopenia |
What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ? | Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription facto... | dyserythropoietic anemia and thrombocytopenia |
Is dyserythropoietic anemia and thrombocytopenia inherited ? | This condition is inherited in an X-linked 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 chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the... | dyserythropoietic anemia and thrombocytopenia |
What are the treatments for dyserythropoietic anemia and thrombocytopenia ? | These resources address the diagnosis or management of dyserythropoietic anemia and thrombocytopenia: - Gene Review: Gene Review: GATA1-Related X-Linked Cytopenia - Genetic Testing Registry: GATA-1-related thrombocytopenia with dyserythropoiesis These resources from MedlinePlus offer information about the diagnosis... | dyserythropoietic anemia and thrombocytopenia |
What is (are) Lafora progressive myoclonus epilepsy ? | Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involunt... | Lafora progressive myoclonus epilepsy |
How many people are affected by Lafora progressive myoclonus epilepsy ? | The prevalence of Lafora progressive myoclonus epilepsy is unknown. Although the condition occurs worldwide, it appears to be most common in Mediterranean countries (including Spain, France, and Italy), parts of Central Asia, India, Pakistan, North Africa, and the Middle East. | Lafora progressive myoclonus epilepsy |
What are the genetic changes related to Lafora progressive myoclonus epilepsy ? | Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that l... | Lafora progressive myoclonus epilepsy |
Is Lafora progressive myoclonus epilepsy 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. | Lafora progressive myoclonus epilepsy |
What are the treatments for Lafora progressive myoclonus epilepsy ? | These resources address the diagnosis or management of Lafora progressive myoclonus epilepsy: - Gene Review: Gene Review: Progressive Myoclonus Epilepsy, Lafora Type - Genetic Testing Registry: Lafora disease - MedlinePlus Encyclopedia: Epilepsy - MedlinePlus Encyclopedia:Generalized Tonic-Clonic Seizure These re... | Lafora progressive myoclonus epilepsy |
What is (are) mucopolysaccharidosis type I ? | Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between ... | mucopolysaccharidosis type I |
How many people are affected by mucopolysaccharidosis type I ? | Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns. | mucopolysaccharidosis type I |
What are the genetic changes related to mucopolysaccharidosis type I ? | Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce... | mucopolysaccharidosis type I |
Is mucopolysaccharidosis type I 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. | mucopolysaccharidosis type I |
What are the treatments for mucopolysaccharidosis type I ? | These resources address the diagnosis or management of mucopolysaccharidosis type I: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type I - Genetic Testing Registry: Mucopolysaccharidosis type I - MedlinePlus Encyclopedia: Hurler Syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides - M... | mucopolysaccharidosis type I |
What is (are) Langer mesomelic dysplasia ? | Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in ... | Langer mesomelic dysplasia |
How many people are affected by Langer mesomelic dysplasia ? | The prevalence of Langer mesomelic dysplasia is unknown, although the condition appears to be rare. Several dozen affected individuals have been reported in the scientific literature. | Langer mesomelic dysplasia |
What are the genetic changes related to Langer mesomelic dysplasia ? | Langer mesomelic dysplasia results from changes involving the SHOX gene. The protein produced from this gene plays a role in bone development and is particularly important for the growth and maturation of bones in the arms and legs. The most common cause of Langer mesomelic dysplasia is a deletion of the entire SHOX ge... | Langer mesomelic dysplasia |
Is Langer mesomelic dysplasia inherited ? | Langer mesomelic dysplasia has a pseudoautosomal recessive pattern of inheritance. The SHOX gene is located on both the X and Y chromosomes (sex chromosomes) in an area known as the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on... | Langer mesomelic dysplasia |
What are the treatments for Langer mesomelic dysplasia ? | These resources address the diagnosis or management of Langer mesomelic dysplasia: - Genetic Testing Registry: Langer mesomelic dysplasia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reh... | Langer mesomelic dysplasia |
What is (are) Legius syndrome ? | Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affect... | Legius syndrome |
How many people are affected by Legius syndrome ? | The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1. | Legius syndrome |
What are the genetic changes related to Legius syndrome ? | Mutations in the SPRED1 gene cause Legius syndrome. The SPRED1 gene provides instructions for making the Spred-1 protein. This protein controls (regulates) an important cell signaling pathway that is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific fu... | Legius syndrome |
Is Legius 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. | Legius syndrome |
What are the treatments for Legius syndrome ? | These resources address the diagnosis or management of Legius syndrome: - Children's Tumor Foundation: NF1 or Legius Syndrome--An Emerging Challenge of Clinical Diagnosis - Gene Review: Gene Review: Legius Syndrome - Genetic Testing Registry: Legius syndrome These resources from MedlinePlus offer information about... | Legius syndrome |
What is (are) Huntington disease ? | Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritabilit... | Huntington disease |
How many people are affected by Huntington disease ? | Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. | Huntington disease |
What are the genetic changes related to Huntington disease ? | Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. The HTT mutation that causes Huntington disease involves a DNA seg... | Huntington disease |
Is Huntington 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. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the dis... | Huntington disease |
What are the treatments for Huntington disease ? | These resources address the diagnosis or management of Huntington disease: - Gene Review: Gene Review: Huntington Disease - Genetic Testing Registry: Huntington's chorea - Huntington's Disease Society of America: HD Care - MedlinePlus Encyclopedia: Huntington Disease - University of Washington Medical Center: Test... | Huntington disease |
What is (are) familial thoracic aortic aneurysm and dissection ? | Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because... | familial thoracic aortic aneurysm and dissection |
How many people are affected by familial thoracic aortic aneurysm and dissection ? | Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysm... | familial thoracic aortic aneurysm and dissection |
What are the genetic changes related to familial thoracic aortic aneurysm and dissection ? | Mutations in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of ca... | familial thoracic aortic aneurysm and dissection |
Is familial thoracic aortic aneurysm and dissection inherited ? | Familial TAAD is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell can be sufficient to cause the condition. In most cases, an affected person has one affected parent. However, some people who inherit an altered gene never develop the aortic abnormalities associated with t... | familial thoracic aortic aneurysm and dissection |
What are the treatments for familial thoracic aortic aneurysm and dissection ? | These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneu... | familial thoracic aortic aneurysm and dissection |
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