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genetic changes | What are the genetic changes related to androgenetic alopecia ? | A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens,... |
inheritance | Is androgenetic alopecia inherited ? | The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition. |
treatment | What are the treatments for androgenetic alopecia ? | These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male Pattern Baldness These resources from MedlinePlus offer inform... |
information | What is (are) adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated. Adolescent idiopathic sco... |
frequency | How many people are affected by adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S. |
genetic changes | What are the genetic changes related to adolescent idiopathic scoliosis ? | The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnorm... |
inheritance | Is adolescent idiopathic scoliosis inherited ? | Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. However, having a close r... |
treatment | What are the treatments for adolescent idiopathic scoliosis ? | These resources address the diagnosis or management of adolescent idiopathic scoliosis: - Genetic Testing Registry: Scoliosis, idiopathic 1 - Genetic Testing Registry: Scoliosis, idiopathic 2 - Genetic Testing Registry: Scoliosis, idiopathic 3 - National Scoliosis Foundation: FAQs - Scoliosis Research Society: Fin... |
information | What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific c... |
frequency | How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be l... |
genetic changes | What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue ... |
inheritance | Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 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 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia ... |
information | What is (are) aromatase excess syndrome ? | Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop g... |
frequency | How many people are affected by aromatase excess syndrome ? | The prevalence of aromatase excess syndrome is unknown; more than 20 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to aromatase excess syndrome ? | Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In female... |
inheritance | Is aromatase excess syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 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 result from new genetic changes and oc... |
treatment | What are the treatments for aromatase excess syndrome ? | These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Ther... |
information | What is (are) juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement.... |
frequency | How many people are affected by juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder, with few reported cases. |
genetic changes | What are the genetic changes related to juvenile primary lateral sclerosis ? | Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is... |
inheritance | Is juvenile primary lateral sclerosis inherited ? | When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis 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... |
treatment | What are the treatments for juvenile primary lateral sclerosis ? | These resources address the diagnosis or management of juvenile primary lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Juvenile primary lateral sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi... |
information | What is (are) myasthenia gravis ? | Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. I... |
frequency | How many people are affected by myasthenia gravis ? | Myasthenia gravis affects about 20 per 100,000 people worldwide. The prevalence has been increasing in recent decades, which likely results from earlier diagnosis and better treatments leading to longer lifespans for affected individuals. |
genetic changes | What are the genetic changes related to myasthenia gravis ? | Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder. Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions a... |
inheritance | Is myasthenia gravis inherited ? | In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown. |
treatment | What are the treatments for myasthenia gravis ? | These resources address the diagnosis or management of myasthenia gravis: - Cleveland Clinic - Genetic Testing Registry: Myasthenia gravis - Genetic Testing Registry: Myasthenia gravis with thymus hyperplasia - MedlinePlus Encyclopedia: Acetylcholine Receptor Antibody - MedlinePlus Encyclopedia: Tensilon Test Th... |
information | What is (are) familial isolated pituitary adenoma ? | Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions. Tumors that form in ... |
frequency | How many people are affected by familial isolated pituitary adenoma ? | Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature. |
genetic changes | What are the genetic changes related to familial isolated pituitary adenoma ? | FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the prod... |
inheritance | Is familial isolated pituitary adenoma inherited ? | FIPA is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 20 to 30 percent of individuals with an AIP gene mutation develop a pituitary adenoma. This phenomenon, in which some individuals with a mutation do not develop th... |
treatment | What are the treatments for familial isolated pituitary adenoma ? | These resources address the diagnosis or management of familial isolated pituitary adenoma: - American Cancer Society: How are Pituitary Tumors Diagnosed? - Gene Review: Gene Review: AIP-Related Familial Isolated Pituitary Adenomas - Genetic Testing Registry: AIP-Related Familial Isolated Pituitary Adenomas - Medli... |
information | What is (are) dopamine beta-hydroxylase deficiency ? | Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of v... |
frequency | How many people are affected by dopamine beta-hydroxylase deficiency ? | Dopamine -hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature. |
genetic changes | What are the genetic changes related to dopamine beta-hydroxylase deficiency ? | Mutations in the DBH gene cause dopamine -hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine -hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. DBH gene mutations r... |
inheritance | Is dopamine beta-hydroxylase 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. |
treatment | What are the treatments for dopamine beta-hydroxylase deficiency ? | These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information... |
information | What is (are) holocarboxylase synthetase deficiency ? | Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. The signs and symptoms of... |
frequency | How many people are affected by holocarboxylase synthetase deficiency ? | The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people. |
genetic changes | What are the genetic changes related to holocarboxylase synthetase deficiency ? | Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attache... |
inheritance | Is holocarboxylase synthetase 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. |
treatment | What are the treatments for holocarboxylase synthetase deficiency ? | These resources address the diagnosis or management of holocarboxylase synthetase deficiency: - Baby's First Test - Genetic Testing Registry: Holocarboxylase synthetase deficiency - MedlinePlus Encyclopedia: Pantothenic Acid and Biotin These resources from MedlinePlus offer information about the diagnosis and mana... |
information | What is (are) multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepithel... |
frequency | How many people are affected by multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals... |
inheritance | Is multiple familial trichoepithelioma inherited ? | Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. |
treatment | What are the treatments for multiple familial trichoepithelioma ? | These resources address the diagnosis or management of multiple familial trichoepithelioma: - Genetic Testing Registry: Familial multiple trichoepitheliomata - Genetic Testing Registry: Trichoepithelioma multiple familial 2 These resources from MedlinePlus offer information about the diagnosis and management of var... |
information | 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... |
frequency | How many people are affected by myoclonic epilepsy myopathy sensory ataxia ? | The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) Salih myopathy ? | Salih myopathy is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting... |
frequency | How many people are affected by Salih myopathy ? | Salih myopathy appears to be a rare disorder, although its prevalence is unknown. It has been reported in a small number of families of Moroccan and Sudanese descent. |
genetic changes | What are the genetic changes related to Salih myopathy ? | Salih myopathy is caused by mutations in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle... |
inheritance | Is Salih myopathy 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 Salih myopathy ? | These resources address the diagnosis or management of Salih myopathy: - Gene Review: Gene Review: Salih Myopathy - Genetic Testing Registry: Myopathy, early-onset, with fatal cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
information | What is (are) keratoderma with woolly hair ? | Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The wool... |
frequency | How many people are affected by keratoderma with woolly hair ? | Keratoderma with woolly hair is rare; its prevalence worldwide is unknown. Type I (Naxos disease) was first described in families from the Greek island of Naxos. Since then, affected families have been found in other Greek islands, Turkey, and the Middle East. This form of the condition may affect up to 1 in 1,000 peo... |
genetic changes | What are the genetic changes related to keratoderma with woolly hair ? | Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin... |
inheritance | Is keratoderma with woolly hair inherited ? | Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, 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 usually do not show signs and symptoms of t... |
treatment | What are the treatments for keratoderma with woolly hair ? | These resources address the diagnosis or management of keratoderma with woolly hair: - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11 ... |
information | What is (are) progressive osseous heteroplasia ? | Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually move... |
frequency | How many people are affected by progressive osseous heteroplasia ? | Progressive osseous heteroplasia is a rare condition. Its exact incidence is unknown. |
genetic changes | What are the genetic changes related to progressive osseous heteroplasia ? | Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that u... |
inheritance | Is progressive osseous heteroplasia 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. People normally inherit one copy of each gene from their mother and one copy from their father. For most genes, both copies are active, or "turned on," in all cells. ... |
treatment | What are the treatments for progressive osseous heteroplasia ? | These resources address the diagnosis or management of progressive osseous heteroplasia: - Genetic Testing Registry: Progressive osseous heteroplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... |
information | What is (are) Miller-Dieker syndrome ? | Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malform... |
frequency | How many people are affected by Miller-Dieker syndrome ? | Miller-Dieker syndrome appears to be a rare disorder, although its prevalence is unknown. |
genetic changes | What are the genetic changes related to Miller-Dieker syndrome ? | Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers are working ... |
inheritance | Is Miller-Dieker syndrome inherited ? | Most cases of Miller-Dieker syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. When Miller-Dieker syndrome is inherited, its inh... |
treatment | What are the treatments for Miller-Dieker syndrome ? | These resources address the diagnosis or management of Miller-Dieker syndrome: - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Genetic Testing Registry: Miller Dieker syndrome These resources from MedlinePlus offer information about the diagnosis and management of various he... |
information | What is (are) congenital insensitivity to pain with anhidrosis ? | Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at... |
frequency | How many people are affected by congenital insensitivity to pain with anhidrosis ? | CIPA is a rare condition; however, the prevalence is unknown. |
genetic changes | What are the genetic changes related to congenital insensitivity to pain with anhidrosis ? | Mutations in the NTRK1 gene cause CIPA. The NTRK1 gene provides instructions for making a receptor protein that attaches (binds) to another protein called NGF. The NTRK1 receptor is important for the survival of nerve cells (neurons). The NTRK1 receptor is found on the surface of cells, particularly neurons that trans... |
inheritance | Is congenital insensitivity to pain with anhidrosis 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 insensitivity to pain with anhidrosis ? | These resources address the diagnosis or management of CIPA: - Gene Review: Gene Review: Congenital Insensitivity to Pain with Anhidrosis - Genetic Testing Registry: Hereditary insensitivity to pain with anhidrosis These resources from MedlinePlus offer information about the diagnosis and management of various heal... |
information | What is (are) hypochondrogenesis ? | Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop ... |
frequency | How many people are affected by hypochondrogenesis ? | Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal disorder) together affect 1 in 40,000 to 60,000 newborns. |
genetic changes | What are the genetic changes related to hypochondrogenesis ? | Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cart... |
inheritance | Is hypochondrogenesis inherited ? | Hypochondrogenesis is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is caused by new mutations in the COL2A1 gene and occurs in people with no history of the disorder in their family. This condition is not passed on to the next gener... |
treatment | What are the treatments for hypochondrogenesis ? | These resources address the diagnosis or management of hypochondrogenesis: - Genetic Testing Registry: Hypochondrogenesis - MedlinePlus Encyclopedia: Achondrogenesis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... |
information | What is (are) Krabbe disease ? | Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells... |
frequency | How many people are affected by Krabbe disease ? | In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel. |
genetic changes | What are the genetic changes related to Krabbe disease ? | Mutations in the GALC gene cause Krabbe disease. These mutations cause a deficiency of the enzyme galactosylceramidase. This deficiency leads to a progressive loss of myelin that covers many nerves. Without myelin, nerves in the brain and other parts of the body cannot function properly, leading to the signs and sympto... |
inheritance | Is Krabbe 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 Krabbe disease ? | These resources address the diagnosis or management of Krabbe disease: - Baby's First Test - Gene Review: Gene Review: Krabbe Disease - Genetic Testing Registry: Galactosylceramide beta-galactosidase deficiency - MedlinePlus Encyclopedia: Krabbe disease These resources from MedlinePlus offer information about the... |
information | What is (are) septo-optic dysplasia ? | Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. T... |
frequency | How many people are affected by septo-optic dysplasia ? | Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. |
genetic changes | What are the genetic changes related to septo-optic dysplasia ? | In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certai... |
inheritance | Is septo-optic dysplasia inherited ? | Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family. Less commonly, septo-optic dysplasia has been found to run in families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means tha... |
treatment | What are the treatments for septo-optic dysplasia ? | These resources address the diagnosis or management of septo-optic dysplasia: - Genetic Testing Registry: Septo-optic dysplasia sequence - MedlinePlus Encyclopedia: Growth Hormone Deficiency - MedlinePlus Encyclopedia: Hypopituitarism These resources from MedlinePlus offer information about the diagnosis and manag... |
information | What is (are) spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), whic... |
frequency | How many people are affected by spondylothoracic dysostosis ? | Spondylothoracic dysostosis affects about one in 200,000 people worldwide. However, it is much more common in people of Puerto Rican ancestry, affecting approximately one in 12,000 people. |
genetic changes | What are the genetic changes related to spondylothoracic dysostosis ? | The MESP2 gene provides instructions for a protein that plays a critical role in the development of vertebrae. Specifically, it is involved in separating vertebrae from one another during early development, a process called somite segmentation. Mutations in the MESP2 gene prevent the production of any protein or lead t... |
inheritance | Is spondylothoracic dysostosis 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 spondylothoracic dysostosis ? | These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... |
information | What is (are) familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas o... |
frequency | How many people are affected by familial osteochondritis dissecans ? | Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals. |
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