qtype stringclasses 16
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genetic changes | What are the genetic changes related to SYNGAP1-related intellectual disability ? | SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. The protein produced from this gene, called SynGAP, plays an important role in nerve cells in the brain. It is found at the junctions between nerve cells (synapses) and helps regulate changes in synapses that are critical for learning a... |
inheritance | Is SYNGAP1-related intellectual disability inherited ? | SYNGAP1-related intellectual disability is classified as an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In at least one... |
treatment | What are the treatments for SYNGAP1-related intellectual disability ? | These resources address the diagnosis or management of SYNGAP1-related intellectual disability: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Mental retardation, autosomal dominant 5 ... |
information | What is (are) hypomyelination and congenital cataract ? | Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes. This disease is one of a group of genetic disorders called leukoencephalopathies. Leukoencephalopathies involve abnormalities of the brain's white matter. White matter consists of nerve fibers covered by a fa... |
frequency | How many people are affected by hypomyelination and congenital cataract ? | The prevalence of hypomyelination and congenital cataract is unknown. |
genetic changes | What are the genetic changes related to hypomyelination and congenital cataract ? | Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the... |
inheritance | Is hypomyelination and congenital cataract 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 hypomyelination and congenital cataract ? | These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle A... |
information | What is (are) ALG12-congenital disorder of glycosylation ? | ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have... |
frequency | How many people are affected by ALG12-congenital disorder of glycosylation ? | ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to ALG12-congenital disorder of glycosylation ? | Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can ... |
inheritance | Is ALG12-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. |
treatment | What are the treatments for ALG12-congenital disorder of glycosylation ? | These resources address the diagnosis or management of ALG12-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1G These resources from MedlinePlus offer information about the diagnosis and management... |
information | What is (are) neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to ... |
frequency | How many people are affected by neurohypophyseal diabetes insipidus ? | Neurohypophyseal diabetes insipidus is thought to be rare, although its exact incidence is unknown. The acquired form occurs much more frequently than the familial form. |
genetic changes | What are the genetic changes related to neurohypophyseal diabetes insipidus ? | The familial form of neurohypophyseal diabetes insipidus is caused by mutations in the AVP gene. This gene provides instructions for making a hormone called vasopressin or antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance. The kidneys filter the... |
inheritance | Is neurohypophyseal diabetes insipidus inherited ? | Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder. In a few affected families, the condition has had an autosomal recessive pattern of inheritance. Autosomal recessive i... |
treatment | What are the treatments for neurohypophyseal diabetes insipidus ? | These resources address the diagnosis or management of neurohypophyseal diabetes insipidus: - Genetic Testing Registry: Neurohypophyseal diabetes insipidus - MedlinePlus Encyclopedia: ADH - MedlinePlus Encyclopedia: Diabetes Insipidus - Central These resources from MedlinePlus offer information about the diagnosis... |
information | What is (are) Parkes Weber syndrome ? | Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny b... |
frequency | How many people are affected by Parkes Weber syndrome ? | Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to Parkes Weber syndrome ? | Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the ... |
inheritance | Is Parkes Weber syndrome inherited ? | Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic. When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pa... |
treatment | What are the treatments for Parkes Weber syndrome ? | These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... |
information | What is (are) 5q minus syndrome ? | 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is part... |
frequency | How many people are affected by 5q minus syndrome ? | MDS affects nearly 1 in 20,000 people in the United States. It is thought that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of MDS, which occur more frequently in men than women, 5q- syndrome is more than twice as common in women. |
genetic changes | What are the genetic changes related to 5q minus syndrome ? | 5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). However, the size of the deleted region varies. This deletion occurs in immature bl... |
inheritance | Is 5q minus syndrome inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family. |
treatment | What are the treatments for 5q minus syndrome ? | These resources address the diagnosis or management of 5q minus syndrome: - American Cancer Society: How are Myelodysplastic Syndromes Diagnosed? - Cancer.Net: MyelodysplasticSyndromes: Treatment Options - Genetic Testing Registry: 5q- syndrome - National Cancer Institute: FDA Approval for Lenalidomide These reso... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) ring chromosome 20 syndrome ? | Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent seizures (epilepsy) in childhood. The seizures may occur during the day or at night during sleep. They are described as partial seizures because they affect on... |
frequency | How many people are affected by ring chromosome 20 syndrome ? | Ring chromosome 20 syndrome appears to be a rare condition, although its prevalence is unknown. More than 60 affected individuals have been reported in the medical literature. |
genetic changes | What are the genetic changes related to ring chromosome 20 syndrome ? | Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in ... |
inheritance | Is ring chromosome 20 syndrome inherited ? | Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most af... |
treatment | What are the treatments for ring chromosome 20 syndrome ? | These resources address the diagnosis or management of ring chromosome 20 syndrome: - Genetic Testing Registry: Ring chromosome 20 syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Epilepsy These resources from MedlinePlus offer information about the diagnosis and management of various he... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) fragile XE syndrome ? | Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as a... |
frequency | How many people are affected by fragile XE syndrome ? | Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported. |
genetic changes | What are the genetic changes related to fragile XE syndrome ? | Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved ... |
inheritance | Is fragile XE syndrome inherited ? | Fragile XE syndrome 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, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell... |
treatment | What are the treatments for fragile XE syndrome ? | These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
information | What is (are) Sotos syndrome ? | Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In... |
frequency | How many people are affected by Sotos syndrome ? | Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000. |
genetic changes | What are the genetic changes related to Sotos syndrome ? | Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes t... |
inheritance | Is Sotos syndrome inherited ? | About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new mutations involving the NSD1 gene. A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has... |
treatment | What are the treatments for Sotos syndrome ? | These resources address the diagnosis or management of Sotos syndrome: - Gene Review: Gene Review: Sotos Syndrome - Genetic Testing Registry: Sotos' syndrome - MedlinePlus Encyclopedia: Increased Head Circumference These resources from MedlinePlus offer information about the diagnosis and management of various hea... |
information | What is (are) infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as cra... |
frequency | How many people are affected by infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown. |
genetic changes | What are the genetic changes related to infantile neuroaxonal dystrophy ? | Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy. The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is ... |
inheritance | Is infantile neuroaxonal dystrophy 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 infantile neuroaxonal dystrophy ? | These resources address the diagnosis or management of infantile neuroaxonal dystrophy: - Gene Review: Gene Review: PLA2G6-Associated Neurodegeneration - Genetic Testing Registry: Infantile neuroaxonal dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) tibial muscular dystrophy ? | Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-do... |
frequency | How many people are affected by tibial muscular dystrophy ? | Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries. Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancest... |
genetic changes | What are the genetic changes related to tibial muscular dystrophy ? | Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called s... |
inheritance | Is tibial muscular dystrophy 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 tibial muscular dystrophy ? | These resources address the diagnosis or management of tibial muscular dystrophy: - Gene Review: Gene Review: Udd Distal Myopathy - Genetic Testing Registry: Distal myopathy Markesbery-Griggs type These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ... |
information | What is (are) familial pityriasis rubra pilaris ? | Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colore... |
frequency | How many people are affected by familial pityriasis rubra pilaris ? | Familial pityriasis rubra pilaris is a rare condition. Its incidence is unknown, although the familial form appears to be the least common type of pityriasis rubra pilaris. |
genetic changes | What are the genetic changes related to familial pityriasis rubra pilaris ? | In most cases of pityriasis rubra pilaris, the cause of the condition is unknown. However, mutations in the CARD14 gene have been found to cause the familial form of the disorder in a few affected families. The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting prote... |
inheritance | Is familial pityriasis rubra pilaris inherited ? | Familial pityriasis rubra pilaris usually has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals usually inherit the condition from one affected parent. However, the condition is said to have incomplete penetrance be... |
treatment | What are the treatments for familial pityriasis rubra pilaris ? | These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabil... |
information | What is (are) hypochromic microcytic anemia with iron overload ? | Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iro... |
frequency | How many people are affected by hypochromic microcytic anemia with iron overload ? | Hypochromic microcytic anemia with iron overload is likely a rare disorder; at least five affected families have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to hypochromic microcytic anemia with iron overload ? | Mutations in the SLC11A2 gene cause hypochromic microcytic anemia with iron overload. The SLC11A2 gene provides instructions for making a protein called divalent metal transporter 1 (DMT1). The DMT1 protein is found in all tissues, where its primary role is to transport positively charged iron atoms (ions) within cells... |
inheritance | Is hypochromic microcytic anemia with iron overload 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 hypochromic microcytic anemia with iron overload ? | These resources address the diagnosis or management of hypochromic microcytic anemia with iron overload: - Genetic Testing Registry: Hypochromic microcytic anemia with iron overload These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... |
information | What is (are) congenital cataracts, facial dysmorphism, and neuropathy ? | Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye move... |
frequency | How many people are affected by congenital cataracts, facial dysmorphism, and neuropathy ? | The prevalence of CCFDN is unknown. The disorder has been identified in about 150 individuals of Romani ethnicity. Thus far, no affected individuals have been observed outside this community. |
genetic changes | What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ? | A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins. Al... |
inheritance | Is congenital cataracts, facial dysmorphism, and neuropathy 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 congenital cataracts, facial dysmorphism, and neuropathy ? | These resources address the diagnosis or management of CCFDN: - Gene Review: Gene Review: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - Genetic Testing Registry: Congenital Cataracts, Facial Dysmorphism, and Neuropathy - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Peripher... |
information | What is (are) Costeff syndrome ? | Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results ... |
frequency | How many people are affected by Costeff syndrome ? | Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have been described. Outside this population, only a few affected individuals have been identified. |
genetic changes | What are the genetic changes related to Costeff syndrome ? | Mutations in the OPA3 gene cause Costeff syndrome. The OPA3 gene provides instructions for making a protein whose exact function is unknown. The OPA3 protein is found in structures called mitochondria, which are the energy-producing centers of cells. Researchers speculate that the OPA3 protein is involved in regulating... |
inheritance | Is Costeff 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 Costeff syndrome ? | These resources address the diagnosis or management of Costeff syndrome: - Baby's First Test - Gene Review: Gene Review: OPA3-Related 3-Methylglutaconic Aciduria - Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources from MedlinePlus offer in... |
information | What is (are) thiamine-responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic... |
frequency | How many people are affected by thiamine-responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome has been reported in approximately 30 families worldwide. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to thiamine-responsive megaloblastic anemia syndrome ? | Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions. Most mutations in the ... |
inheritance | Is thiamine-responsive megaloblastic anemia 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 thiamine-responsive megaloblastic anemia syndrome ? | These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlu... |
information | What is (are) Sheldon-Hall syndrome ? | Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to areas of the bod... |
frequency | How many people are affected by Sheldon-Hall syndrome ? | The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought to be the most common type of distal arthrogryposis. About 100 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to Sheldon-Hall syndrome ? | Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction). Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins cal... |
inheritance | Is Sheldon-Hall 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 about 50 percent of cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people ... |
treatment | What are the treatments for Sheldon-Hall syndrome ? | These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat... |
information | What is (are) cholesteryl ester storage disease ? | Cholesteryl ester storage disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body. The liver is most severely affected. An enlarged liver (hepatome... |
frequency | How many people are affected by cholesteryl ester storage disease ? | Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide. |
genetic changes | What are the genetic changes related to cholesteryl ester storage disease ? | Mutations in the LIPA gene cause cholesteryl ester storage disease. The LIPA gene provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down lipids such as cholesteryl esters and trigl... |
inheritance | Is cholesteryl ester storage 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 cholesteryl ester storage disease ? | These resources address the diagnosis or management of cholesteryl ester storage disease: - Genetic Testing Registry: Lysosomal acid lipase deficiency - MedlinePlus Encyclopedia: Atherosclerosis - MedlinePlus Encyclopedia: Cirrhosis These resources from MedlinePlus offer information about the diagnosis and managem... |
information | What is (are) congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete... |
frequency | How many people are affected by congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. |
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