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What is (are) 3-beta-hydroxysteroid dehydrogenase deficiency ? | 3-beta ()-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top ... | 3-beta-hydroxysteroid dehydrogenase deficiency |
How many people are affected by 3-beta-hydroxysteroid dehydrogenase deficiency ? | The exact prevalence of 3-HSD deficiency is unknown. At least 60 affected individuals have been reported. | 3-beta-hydroxysteroid dehydrogenase deficiency |
What are the genetic changes related to 3-beta-hydroxysteroid dehydrogenase deficiency ? | Mutations in the HSD3B2 gene cause 3-HSD deficiency. The HSD3B2 gene provides instructions for making the 3-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous ... | 3-beta-hydroxysteroid dehydrogenase deficiency |
Is 3-beta-hydroxysteroid 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. | 3-beta-hydroxysteroid dehydrogenase deficiency |
What are the treatments for 3-beta-hydroxysteroid dehydrogenase deficiency ? | These resources address the diagnosis or management of 3-beta-hydroxysteroid dehydrogenase deficiency: - Genetic Testing Registry: 3 beta-Hydroxysteroid dehydrogenase deficiency - Great Ormond Street Hospital for Children: Cortisol Deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedi... | 3-beta-hydroxysteroid dehydrogenase deficiency |
What is (are) CHOPS syndrome ? | CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abn... | CHOPS syndrome |
How many people are affected by CHOPS syndrome ? | CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few affected individuals have been described in the medical literature. | CHOPS syndrome |
What are the genetic changes related to CHOPS syndrome ? | CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes.... | CHOPS syndrome |
Is CHOPS syndrome inherited ? | CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All known cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early emb... | CHOPS syndrome |
What are the treatments for CHOPS syndrome ? | These resources address the diagnosis or management of CHOPS syndrome: - Genetic Testing Registry: Chops syndrome - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | CHOPS syndrome |
What is (are) Bjrnstad syndrome ? | Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that g... | Bjrnstad syndrome |
How many people are affected by Bjrnstad syndrome ? | Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide. | Bjrnstad syndrome |
What are the genetic changes related to Bjrnstad syndrome ? | Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process t... | Bjrnstad syndrome |
Is Bjrnstad syndrome inherited ? | Bjrnstad syndrome 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. | Bjrnstad syndrome |
What are the treatments for Bjrnstad syndrome ? | These resources address the diagnosis or management of Bjrnstad syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis - Genetic Testing Registry: Pili torti-deafness syndrome These resources from MedlinePlus offer information about the diagnosis and management of ... | Bjrnstad syndrome |
What is (are) cytochrome P450 oxidoreductase deficiency ? | Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive sys... | cytochrome P450 oxidoreductase deficiency |
How many people are affected by cytochrome P450 oxidoreductase deficiency ? | The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide. Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. Because the signs and symptoms can be difficult to det... | cytochrome P450 oxidoreductase deficiency |
What are the genetic changes related to cytochrome P450 oxidoreductase deficiency ? | Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for nor... | cytochrome P450 oxidoreductase deficiency |
Is cytochrome P450 oxidoreductase 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. | cytochrome P450 oxidoreductase deficiency |
What are the treatments for cytochrome P450 oxidoreductase deficiency ? | These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency: - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis - MedlinePlus Encyclopedia: Ambiguous Genita... | cytochrome P450 oxidoreductase deficiency |
What is (are) oral-facial-digital syndrome ? | Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). Researchers have identified at least 13 potential forms of oral-facial-digital syndrome. The different types are classified by the... | oral-facial-digital syndrome |
How many people are affected by oral-facial-digital syndrome ? | Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns. Type I accounts for the majority of cases of this disorder. The other forms of oral-facial-digital syndrome are very rare; most have been identified in only one or a few families. | oral-facial-digital syndrome |
What are the genetic changes related to oral-facial-digital syndrome ? | Only one gene, OFD1, has been associated with oral-facial-digital syndrome. Mutations in this gene cause oral-facial-digital syndrome type I. OFD1 gene mutations were also found in an affected family whose disorder was classified as type VII; however, researchers now believe that type VII is the same as type I. The OF... | oral-facial-digital syndrome |
Is oral-facial-digital syndrome inherited ? | Oral-facial-digital syndrome type I is inherited in an X-linked dominant pattern. The gene associated with this condition 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 is sufficient to cause ... | oral-facial-digital syndrome |
What are the treatments for oral-facial-digital syndrome ? | These resources address the diagnosis or management of oral-facial-digital syndrome: - Gene Review: Gene Review: Oral-Facial-Digital Syndrome Type I - Genetic Testing Registry: Mohr syndrome - Genetic Testing Registry: Oral-facial-digital syndrome - Genetic Testing Registry: Orofacial-digital syndrome III - Geneti... | oral-facial-digital syndrome |
What is (are) 46,XX testicular disorder of sex development ? | 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescende... | 46,XX testicular disorder of sex development |
How many people are affected by 46,XX testicular disorder of sex development ? | Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder. | 46,XX testicular disorder of sex development |
What are the genetic changes related to 46,XX testicular disorder of sex development ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chro... | 46,XX testicular disorder of sex development |
Is 46,XX testicular disorder of sex development inherited ? | SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass ... | 46,XX testicular disorder of sex development |
What are the treatments for 46,XX testicular disorder of sex development ? | These resources address the diagnosis or management of 46,XX testicular disorder of sex development: - Gene Review: Gene Review: Nonsyndromic 46,XX Testicular Disorders of Sex Development - Genetic Testing Registry: 46,XX sex reversal, type 1 - Genetic Testing Registry: 46,XX testicular disorder of sex development ... | 46,XX testicular disorder of sex development |
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... | ring chromosome 20 syndrome |
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. | ring chromosome 20 syndrome |
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 ... | ring chromosome 20 syndrome |
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... | ring chromosome 20 syndrome |
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... | ring chromosome 20 syndrome |
What is (are) Rothmund-Thomson syndrome ? | Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin ... | Rothmund-Thomson syndrome |
How many people are affected by Rothmund-Thomson syndrome ? | Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies. | Rothmund-Thomson syndrome |
What are the genetic changes related to Rothmund-Thomson syndrome ? | Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This un... | Rothmund-Thomson syndrome |
Is Rothmund-Thomson 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. | Rothmund-Thomson syndrome |
What are the treatments for Rothmund-Thomson syndrome ? | These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia: Osteosarcoma These resources from MedlinePlus offer informa... | Rothmund-Thomson syndrome |
What is (are) spinocerebellar ataxia type 3 ? | Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle sti... | spinocerebellar ataxia type 3 |
How many people are affected by spinocerebellar ataxia type 3 ? | The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. | spinocerebellar ataxia type 3 |
What are the genetic changes related to spinocerebellar ataxia type 3 ? | Mutations in the ATXN3 gene cause SCA3. The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin is a... | spinocerebellar ataxia type 3 |
Is spinocerebellar ataxia type 3 inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. As the altered ATXN3 gene is passed down from one generation to the next, the length of the CAG t... | spinocerebellar ataxia type 3 |
What are the treatments for spinocerebellar ataxia type 3 ? | These resources address the diagnosis or management of SCA3: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 3 - Genetic Testing Registry: Azorean disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | spinocerebellar ataxia type 3 |
What is (are) osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (dec... | osteoporosis-pseudoglioma syndrome |
How many people are affected by osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people. | osteoporosis-pseudoglioma syndrome |
What are the genetic changes related to osteoporosis-pseudoglioma syndrome ? | Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role... | osteoporosis-pseudoglioma syndrome |
Is osteoporosis-pseudoglioma syndrome inherited ? | Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 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 co... | osteoporosis-pseudoglioma syndrome |
What are the treatments for osteoporosis-pseudoglioma syndrome ? | These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Oste... | osteoporosis-pseudoglioma syndrome |
What is (are) congenital hyperinsulinism ? | Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a... | congenital hyperinsulinism |
How many people are affected by congenital hyperinsulinism ? | Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns. | congenital hyperinsulinism |
What are the genetic changes related to congenital hyperinsulinism ? | Congenital hyperinsulinism is caused by mutations in genes that regulate the release (secretion) of insulin, which is produced by beta cells in the pancreas. Insulin clears excess sugar (in the form of glucose) from the bloodstream by passing glucose into cells to be used as energy. Gene mutations that cause congenita... | congenital hyperinsulinism |
Is congenital hyperinsulinism inherited ? | Congenital hyperinsulinism can have different inheritance patterns, usually depending on the form of the condition. At least two forms of the condition have been identified. The most common form is the diffuse form, which occurs when all of the beta cells in the pancreas secrete too much insulin. The focal form of cong... | congenital hyperinsulinism |
What are the treatments for congenital hyperinsulinism ? | These resources address the diagnosis or management of congenital hyperinsulinism: - Gene Review: Gene Review: Familial Hyperinsulinism - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia - Genetic Testing Registry: Familial hyperinsulinism - Genetic Testing Registry: Hyperinsulinemic hypogly... | congenital hyperinsulinism |
What is (are) Miller syndrome ? | Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening... | Miller syndrome |
How many people are affected by Miller syndrome ? | Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases have been reported in the medical literature. | Miller syndrome |
What are the genetic changes related to Miller syndrome ? | Mutations in the DHODH gene cause Miller syndrome. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the ... | Miller syndrome |
Is Miller 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. | Miller syndrome |
What are the treatments for Miller syndrome ? | These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | Miller syndrome |
What is (are) congenital fibrosis of the extraocular muscles ? | Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscle... | congenital fibrosis of the extraocular muscles |
How many people are affected by congenital fibrosis of the extraocular muscles ? | CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has bee... | congenital fibrosis of the extraocular muscles |
What are the genetic changes related to congenital fibrosis of the extraocular muscles ? | CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves ... | congenital fibrosis of the extraocular muscles |
Is congenital fibrosis of the extraocular muscles inherited ? | The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 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 the mutati... | congenital fibrosis of the extraocular muscles |
What are the treatments for congenital fibrosis of the extraocular muscles ? | These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - Genetic Testing Registry: Fibrosis of extraocular muscles, con... | congenital fibrosis of the extraocular muscles |
What is (are) polycystic kidney disease ? | Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts... | polycystic kidney disease |
How many people are affected by polycystic kidney disease ? | Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recess... | polycystic kidney disease |
What are the genetic changes related to polycystic kidney disease ? | Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose ... | polycystic kidney disease |
Is polycystic kidney disease inherited ? | Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases... | polycystic kidney disease |
What are the treatments for polycystic kidney disease ? | These resources address the diagnosis or management of polycystic kidney disease: - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Dominant - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Recessive - Genetic Testing Registry: Polycystic kidney disease 2 - Genetic Testing Registry: P... | polycystic kidney disease |
What is (are) Sjgren-Larsson syndrome ? | Sjgren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age. Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the s... | Sjgren-Larsson syndrome |
How many people are affected by Sjgren-Larsson syndrome ? | Sjgren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence of this condition is unknown. | Sjgren-Larsson syndrome |
What are the genetic changes related to Sjgren-Larsson syndrome ? | Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FAL... | Sjgren-Larsson syndrome |
Is Sjgren-Larsson 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. | Sjgren-Larsson syndrome |
What are the treatments for Sjgren-Larsson syndrome ? | These resources address the diagnosis or management of Sjgren-Larsson syndrome: - Genetic Testing Registry: Sjgren-Larsson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - ... | Sjgren-Larsson syndrome |
What is (are) myoclonic epilepsy myopathy sensory ataxia ? | Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear durin... | myoclonic epilepsy myopathy sensory ataxia |
How many people are affected by myoclonic epilepsy myopathy sensory ataxia ? | The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. | myoclonic epilepsy myopathy sensory ataxia |
What are the genetic changes related to myoclonic epilepsy myopathy sensory ataxia ? | MEMSA is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria ea... | myoclonic epilepsy myopathy sensory ataxia |
Is myoclonic epilepsy myopathy sensory ataxia 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. | myoclonic epilepsy myopathy sensory ataxia |
What are the treatments for myoclonic epilepsy myopathy sensory ataxia ? | These resources address the diagnosis or management of MEMSA: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Myoclonic epilepsy myopathy sensory ataxia - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information ab... | myoclonic epilepsy myopathy sensory ataxia |
What is (are) porphyria ? | Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including h... | porphyria |
How many people are affected by porphyria ? | The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never ... | porphyria |
What are the genetic changes related to porphyria ? | Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, or UROS. The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in most of these genes reduce enzyme activity, which limits the amount of heme the body c... | porphyria |
Is porphyria inherited ? | Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant ... | porphyria |
What are the treatments for porphyria ? | These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphy... | porphyria |
What is (are) distal myopathy 2 ? | Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known ... | distal myopathy 2 |
How many people are affected by distal myopathy 2 ? | The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature. | distal myopathy 2 |
What are the genetic changes related to distal myopathy 2 ? | A mutation in the MATR3 gene has been identified in people with distal myopathy 2. This gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus a... | distal myopathy 2 |
Is distal myopathy 2 inherited ? | Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder. | distal myopathy 2 |
What are the treatments for distal myopathy 2 ? | These resources address the diagnosis or management of distal myopathy 2: - Genetic Testing Registry: Myopathy, distal, 2 - MedlinePlus Encyclopedia: Muscular Dystrophy - National Institute of Neurological Disorders and Stroke: Muscular Dystrophy: Hope Through Research These resources from MedlinePlus offer inform... | distal myopathy 2 |
What is (are) pantothenate kinase-associated neurodegeneration ? | Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble w... | pantothenate kinase-associated neurodegeneration |
How many people are affected by pantothenate kinase-associated neurodegeneration ? | The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide. | pantothenate kinase-associated neurodegeneration |
What are the genetic changes related to pantothenate kinase-associated neurodegeneration ? | Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule cal... | pantothenate kinase-associated neurodegeneration |
Is pantothenate kinase-associated neurodegeneration 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. | pantothenate kinase-associated neurodegeneration |
What are the treatments for pantothenate kinase-associated neurodegeneration ? | These resources address the diagnosis or management of pantothenate kinase-associated neurodegeneration: - Gene Review: Gene Review: Pantothenate Kinase-Associated Neurodegeneration - Genetic Testing Registry: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration - MedlinePlus E... | pantothenate kinase-associated neurodegeneration |
What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | 17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of the male sex hormone testosterone. Tes... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
How many people are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. Researchers have estimated that this condition occurs in approximately 1 in 147,000 newborns. It is more common in the Arab population of Gaza, where it affects 1 in 200 to 300 people. | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
What are the genetic changes related to 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | Mutations in the HSD17B3 gene cause 17-beta hydroxysteroid dehydrogenase 3 deficiency. The HSD17B3 gene provides instructions for making an enzyme called 17-beta hydroxysteroid dehydrogenase 3. This enzyme is active in the testes, where it helps to produce testosterone from a precursor hormone called androstenedione. ... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
Is 17-beta hydroxysteroid dehydrogenase 3 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. Individuals who ... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
What are the treatments for 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | These resources address the diagnosis or management of 17-beta hydroxysteroid dehydrogenase 3 deficiency: - Genetic Testing Registry: Testosterone 17-beta-dehydrogenase deficiency - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information... | 17-beta hydroxysteroid dehydrogenase 3 deficiency |
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