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What is (are) X-linked lissencephaly with abnormal genitalia ? | X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. ... | X-linked lissencephaly with abnormal genitalia |
How many people are affected by X-linked lissencephaly with abnormal genitalia ? | The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature. | X-linked lissencephaly with abnormal genitalia |
What are the genetic changes related to X-linked lissencephaly with abnormal genitalia ? | Mutations in the ARX gene cause XLAG. The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). The ARX protei... | X-linked lissencephaly with abnormal genitalia |
Is X-linked lissencephaly with abnormal genitalia 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... | X-linked lissencephaly with abnormal genitalia |
What are the treatments for X-linked lissencephaly with abnormal genitalia ? | These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia: - Genetic Testing Registry: Lissencephaly 2, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... | X-linked lissencephaly with abnormal genitalia |
What is (are) neonatal onset multisystem inflammatory disease ? | Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. ... | neonatal onset multisystem inflammatory disease |
How many people are affected by neonatal onset multisystem inflammatory disease ? | NOMID is a very rare disorder; approximately 100 affected individuals have been reported worldwide. | neonatal onset multisystem inflammatory disease |
What are the genetic changes related to neonatal onset multisystem inflammatory disease ? | Mutations in the NLRP3 gene (also known as CIAS1) cause NOMID. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the immune system, help... | neonatal onset multisystem inflammatory disease |
Is neonatal onset multisystem inflammatory disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in ... | neonatal onset multisystem inflammatory disease |
What are the treatments for neonatal onset multisystem inflammatory disease ? | These resources address the diagnosis or management of NOMID: - Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery... | neonatal onset multisystem inflammatory disease |
What is (are) aceruloplasminemia ? | Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time. People with aceruloplasminemia develop a variety of movement problems. They may experience involun... | aceruloplasminemia |
How many people are affected by aceruloplasminemia ? | Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected. | aceruloplasminemia |
What are the genetic changes related to aceruloplasminemia ? | Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, ... | aceruloplasminemia |
Is aceruloplasminemia 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. | aceruloplasminemia |
What are the treatments for aceruloplasminemia ? | These resources address the diagnosis or management of aceruloplasminemia: - Gene Review: Gene Review: Aceruloplasminemia - Genetic Testing Registry: Deficiency of ferroxidase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D... | aceruloplasminemia |
What is (are) color vision deficiency ? | Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow... | color vision deficiency |
How many people are affected by color vision deficiency ? | Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all oth... | color vision deficiency |
What are the genetic changes related to color vision deficiency ? | Mutations in the OPN1LW, OPN1MW, and OPN1SW genes cause the forms of color vision deficiency described above. The proteins produced from these genes play essential roles in color vision. They are found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light rece... | color vision deficiency |
Is color vision deficiency inherited ? | Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition.... | color vision deficiency |
What are the treatments for color vision deficiency ? | These resources address the diagnosis or management of color vision deficiency: - Gene Review: Gene Review: Red-Green Color Vision Defects - Genetic Testing Registry: Colorblindness, partial, deutan series - Genetic Testing Registry: Cone monochromatism - Genetic Testing Registry: Protan defect - Genetic Testing R... | color vision deficiency |
What is (are) esophageal atresia/tracheoesophageal fistula ? | Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adja... | esophageal atresia/tracheoesophageal fistula |
How many people are affected by esophageal atresia/tracheoesophageal fistula ? | EA/TEF occurs in 1 in 3,000 to 5,000 newborns. | esophageal atresia/tracheoesophageal fistula |
What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ? | Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause. Non-isolated... | esophageal atresia/tracheoesophageal fistula |
Is esophageal atresia/tracheoesophageal fistula inherited ? | When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family. | esophageal atresia/tracheoesophageal fistula |
What are the treatments for esophageal atresia/tracheoesophageal fistula ? | These resources address the diagnosis or management of EA/TEF: - Boston Children's Hospital: Esophageal Atresia - Children's Hospital of Wisconsin - Gene Review: Gene Review: Esophageal Atresia/Tracheoesophageal Fistula Overview - Genetic Testing Registry: Tracheoesophageal fistula - MedlinePlus Encyclopedia: Trac... | esophageal atresia/tracheoesophageal fistula |
What is (are) epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or th... | epidermolytic hyperkeratosis |
How many people are affected by epidermolytic hyperkeratosis ? | Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide. | epidermolytic hyperkeratosis |
What are the genetic changes related to epidermolytic hyperkeratosis ? | Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each ot... | epidermolytic hyperkeratosis |
Is epidermolytic hyperkeratosis inherited ? | Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant... | epidermolytic hyperkeratosis |
What are the treatments for epidermolytic hyperkeratosis ? | These resources address the diagnosis or management of epidermolytic hyperkeratosis: - Genetic Testing Registry: Bullous ichthyosiform erythroderma - The Swedish Information Centre for Rare Diseases: Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health c... | epidermolytic hyperkeratosis |
What is (are) Crouzon syndrome ? | Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal ... | Crouzon syndrome |
How many people are affected by Crouzon syndrome ? | Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome. | Crouzon syndrome |
What are the genetic changes related to Crouzon syndrome ? | Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate sig... | Crouzon syndrome |
Is Crouzon 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. | Crouzon syndrome |
What are the treatments for Crouzon syndrome ? | These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and managemen... | Crouzon syndrome |
What is (are) uromodulin-associated kidney disease ? | Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys ... | uromodulin-associated kidney disease |
How many people are affected by uromodulin-associated kidney disease ? | The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease. | uromodulin-associated kidney disease |
What are the genetic changes related to uromodulin-associated kidney disease ? | Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the uri... | uromodulin-associated kidney disease |
Is uromodulin-associated kidney 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. | uromodulin-associated kidney disease |
What are the treatments for uromodulin-associated kidney disease ? | These resources address the diagnosis or management of uromodulin-associated kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD) - Genetic Testing Registry: Familial juvenile gout - Genetic Testing Registry: Glomerulocystic kidney disease with h... | uromodulin-associated kidney disease |
What is (are) congenital fiber-type disproportion ? | Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of... | congenital fiber-type disproportion |
How many people are affected by congenital fiber-type disproportion ? | Congenital fiber-type disproportion is thought to be a rare condition, although its prevalence is unknown. | congenital fiber-type disproportion |
What are the genetic changes related to congenital fiber-type disproportion ? | Mutations in multiple genes can cause congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some known and some unidentified, are responsible for the remaining cases. The genes that cause congenital fiber-type disproportion pro... | congenital fiber-type disproportion |
Is congenital fiber-type disproportion inherited ? | Congenital fiber-type disproportion can have multiple inheritance patterns. When this condition is caused by mutations in the ACTA1 gene, it usually occurs in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most other c... | congenital fiber-type disproportion |
What are the treatments for congenital fiber-type disproportion ? | These resources address the diagnosis or management of congenital fiber-type disproportion: - Gene Review: Gene Review: Congenital Fiber-Type Disproportion - Genetic Testing Registry: Congenital myopathy with fiber type disproportion - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Hypo... | congenital fiber-type disproportion |
What is (are) polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many... | polymicrogyria |
How many people are affected by polymicrogyria ? | The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare. | polymicrogyria |
What are the genetic changes related to polymicrogyria ? | In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrau... | polymicrogyria |
Is polymicrogyria inherited ? | Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in e... | polymicrogyria |
What are the treatments for polymicrogyria ? | These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal... | polymicrogyria |
What is (are) Cant syndrome ? | Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals. People with Cant syndrome have thick scalp hair that extends onto the forehead and grows... | Cant syndrome |
How many people are affected by Cant syndrome ? | Cant syndrome is a rare condition. About three dozen affected individuals have been reported in the medical literature. | Cant syndrome |
What are the genetic changes related to Cant syndrome ? | Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open wh... | Cant syndrome |
Is Cant syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected perso... | Cant syndrome |
What are the treatments for Cant syndrome ? | These resources address the diagnosis or management of Cant syndrome: - Gene Review: Gene Review: Cant syndrome - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... | Cant syndrome |
What is (are) microphthalmia ? | Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be di... | microphthalmia |
How many people are affected by microphthalmia ? | Microphthalmia occurs in approximately 1 in 10,000 individuals. | microphthalmia |
What are the genetic changes related to microphthalmia ? | Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. The condition may also result from a chromosomal abnormality affecting one or more genes. Most genetic changes associated with isolated microphthalmia have been identified only in ... | microphthalmia |
Is microphthalmia inherited ? | Isolated microphthalmia is sometimes 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 conditio... | microphthalmia |
What are the treatments for microphthalmia ? | These resources address the diagnosis or management of microphthalmia: - Gene Review: Gene Review: Microphthalmia/Anophthalmia/Coloboma Spectrum - Genetic Testing Registry: Cataract, congenital, with microphthalmia - Genetic Testing Registry: Cataract, microphthalmia and nystagmus - Genetic Testing Registry: Microp... | microphthalmia |
What is (are) chorea-acanthocytosis ? | Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group o... | chorea-acanthocytosis |
How many people are affected by chorea-acanthocytosis ? | It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis. | chorea-acanthocytosis |
What are the genetic changes related to chorea-acanthocytosis ? | Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the... | chorea-acanthocytosis |
Is chorea-acanthocytosis 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. | chorea-acanthocytosis |
What are the treatments for chorea-acanthocytosis ? | These resources address the diagnosis or management of chorea-acanthocytosis: - Gene Review: Gene Review: Chorea-Acanthocytosis - Genetic Testing Registry: Choreoacanthocytosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - ... | chorea-acanthocytosis |
What is (are) Rett syndrome ? | Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learni... | Rett syndrome |
How many people are affected by Rett syndrome ? | This condition affects an estimated 1 in 8,500 females. | Rett syndrome |
What are the genetic changes related to Rett syndrome ? | Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections ... | Rett syndrome |
Is Rett syndrome inherited ? | In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome a... | Rett syndrome |
What are the treatments for Rett syndrome ? | These resources address the diagnosis or management of Rett syndrome: - Boston Children's Hospital - Cleveland Clinic - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Rett syndrome - International Rett Syndrome Foundation: Living with Rett Syndrome - MedlinePlus Encyclopedia: Rett S... | Rett syndrome |
What is (are) Y chromosome infertility ? | Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or th... | Y chromosome infertility |
How many people are affected by Y chromosome infertility ? | Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. | Y chromosome infertility |
What are the genetic changes related to Y chromosome infertility ? | As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only mal... | Y chromosome infertility |
Is Y chromosome infertility inherited ? | Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reprod... | Y chromosome infertility |
What are the treatments for Y chromosome infertility ? | These resources address the diagnosis or management of Y chromosome infertility: - Gene Review: Gene Review: Y Chromosome Infertility - Genetic Testing Registry: Spermatogenic failure, Y-linked 2 - Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 - MedlinePlus Encyclopedia: Semen Analysis These resour... | Y chromosome infertility |
What is (are) aspartylglucosaminuria ? | Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mild... | aspartylglucosaminuria |
How many people are affected by aspartylglucosaminuria ? | Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common outside of Finland, but the incidence is unknown. | aspartylglucosaminuria |
What are the genetic changes related to aspartylglucosaminuria ? | Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecul... | aspartylglucosaminuria |
Is aspartylglucosaminuria inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | aspartylglucosaminuria |
What are the treatments for aspartylglucosaminuria ? | These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge... | aspartylglucosaminuria |
What is (are) Treacher Collins syndrome ? | Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw a... | Treacher Collins syndrome |
How many people are affected by Treacher Collins syndrome ? | This condition affects an estimated 1 in 50,000 people. | Treacher Collins syndrome |
What are the genetic changes related to Treacher Collins syndrome ? | Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one ... | Treacher Collins syndrome |
Is Treacher Collins syndrome inherited ? | When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with n... | Treacher Collins syndrome |
What are the treatments for Treacher Collins syndrome ? | These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing Registry: Treacher Collins syndrome - Genetic Testing Registry:... | Treacher Collins syndrome |
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... | familial pityriasis rubra pilaris |
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. | familial pityriasis rubra pilaris |
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... | familial pityriasis rubra pilaris |
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... | familial pityriasis rubra pilaris |
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... | familial pityriasis rubra pilaris |
What is (are) hereditary paraganglioma-pheochromocytoma ? | Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paragangl... | hereditary paraganglioma-pheochromocytoma |
How many people are affected by hereditary paraganglioma-pheochromocytoma ? | Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 million people. | hereditary paraganglioma-pheochromocytoma |
What are the genetic changes related to hereditary paraganglioma-pheochromocytoma ? | Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predis... | hereditary paraganglioma-pheochromocytoma |
Is hereditary paraganglioma-pheochromocytoma inherited ? | Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, ... | hereditary paraganglioma-pheochromocytoma |
What are the treatments for hereditary paraganglioma-pheochromocytoma ? | These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma: - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes - Genetic Testing Registry: Paragangliomas 1 - Genetic Testing Registry: Paragangliomas 2 - Genetic Testing Registry: Paragangliomas 3 - ... | hereditary paraganglioma-pheochromocytoma |
What is (are) glycine encephalopathy ? | Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that... | glycine encephalopathy |
How many people are affected by glycine encephalopathy ? | The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada. | glycine encephalopathy |
What are the genetic changes related to glycine encephalopathy ? | Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT ... | glycine encephalopathy |
Is glycine encephalopathy 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. | glycine encephalopathy |
What are the treatments for glycine encephalopathy ? | These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health condi... | glycine encephalopathy |
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