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What is (are) Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloods... | Rabson-Mendenhall syndrome |
How many people are affected by Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature. | Rabson-Mendenhall syndrome |
What are the genetic changes related to Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bl... | Rabson-Mendenhall syndrome |
Is Rabson-Mendenhall 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. | Rabson-Mendenhall syndrome |
What are the treatments for Rabson-Mendenhall syndrome ? | These resources address the diagnosis or management of Rabson-Mendenhall syndrome: - Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - S... | Rabson-Mendenhall syndrome |
What is (are) Alagille syndrome ? | Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In ... | Alagille syndrome |
How many people are affected by Alagille syndrome ? | The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy. | Alagille syndrome |
What are the genetic changes related to Alagille syndrome ? | In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The J... | Alagille syndrome |
Is Alagille syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new muta... | Alagille syndrome |
What are the treatments for Alagille syndrome ? | These resources address the diagnosis or management of Alagille syndrome: - Boston Children's Hospital - Children's Hospital of Philadelphia - Children's Hospital of Pittsburgh - Gene Review: Gene Review: Alagille Syndrome - Genetic Testing Registry: Alagille syndrome 1 - Genetic Testing Registry: Arteriohepatic ... | Alagille syndrome |
What is (are) North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrho... | North American Indian childhood cirrhosis |
How many people are affected by North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis has been found only in children of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At least 30 affected individuals from this population have been reported. | North American Indian childhood cirrhosis |
What are the genetic changes related to North American Indian childhood cirrhosis ? | North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus wher... | North American Indian childhood cirrhosis |
Is North American Indian childhood cirrhosis 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. | North American Indian childhood cirrhosis |
What are the treatments for North American Indian childhood cirrhosis ? | These resources address the diagnosis or management of North American Indian childhood cirrhosis: - Children's Organ Transplant Association - Genetic Testing Registry: North american indian childhood cirrhosis These resources from MedlinePlus offer information about the diagnosis and management of various health co... | North American Indian childhood cirrhosis |
What is (are) pachyonychia congenita ? | Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick a... | pachyonychia congenita |
How many people are affected by pachyonychia congenita ? | Although the prevalence of pachyonychia congenita is unknown, it appears to be rare. There are probably several thousand people worldwide with this disorder. | pachyonychia congenita |
What are the genetic changes related to pachyonychia congenita ? | Mutations in several genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17, can cause pachyonychia congenita. All of these genes provide instructions for making tough, fibrous proteins called keratins. These proteins form networks that provide strength and resilience to the tissues that make up the skin, hair, and nai... | pachyonychia congenita |
Is pachyonychia congenita inherited ? | Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in ... | pachyonychia congenita |
What are the treatments for pachyonychia congenita ? | These resources address the diagnosis or management of pachyonychia congenita: - Gene Review: Gene Review: Pachyonychia Congenita - Genetic Testing Registry: Pachyonychia congenita 4 - Genetic Testing Registry: Pachyonychia congenita syndrome - Genetic Testing Registry: Pachyonychia congenita type 2 - Genetic Test... | pachyonychia congenita |
What is (are) Parkes Weber syndrome ? | Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny b... | Parkes Weber syndrome |
How many people are affected by Parkes Weber syndrome ? | Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. | Parkes Weber syndrome |
What are the genetic changes related to Parkes Weber syndrome ? | Some cases of Parkes Weber syndrome result from mutations in the RASA1 gene. When the condition is caused by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who do not have multiple capillary malformations are unlikely to have mutations in the ... | Parkes Weber syndrome |
Is Parkes Weber syndrome inherited ? | Most cases of Parkes Weber syndrome occur in people with no history of the condition in their family. These cases are described as sporadic. When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pa... | Parkes Weber syndrome |
What are the treatments for Parkes Weber syndrome ? | These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | Parkes Weber syndrome |
What is (are) intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in pregnant women. Cholestasis is a condition that impairs the release of a digestive fluid called bile from liver cells. As a result, bile builds up in the liver, impairing liver function. Because the problems with bile release occur within the live... | intrahepatic cholestasis of pregnancy |
How many people are affected by intrahepatic cholestasis of pregnancy ? | Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is found less frequently in other populations. | intrahepatic cholestasis of pregnancy |
What are the genetic changes related to intrahepatic cholestasis of pregnancy ? | Genetic changes in the ABCB11 or the ABCB4 gene can increase a woman's likelihood of developing intrahepatic cholestasis of pregnancy. The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a compo... | intrahepatic cholestasis of pregnancy |
Is intrahepatic cholestasis of pregnancy inherited ? | Susceptibility to intrahepatic cholestasis of pregnancy 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 the disorder. Some women with an altered gene do not develop intrahepatic cholestasis of pregnancy. Many other fac... | intrahepatic cholestasis of pregnancy |
What are the treatments for intrahepatic cholestasis of pregnancy ? | These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Cholestasis of pregnancy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | intrahepatic cholestasis of pregnancy |
What is (are) Norrie disease ? | Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appea... | Norrie disease |
How many people are affected by Norrie disease ? | Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group. | Norrie disease |
What are the genetic changes related to Norrie disease ? | Mutations in the NDP gene cause Norrie disease. The NDP gene provides instructions for making a protein called norrin. Norrin participates in the Wnt cascade, a sequence of steps that affect the way cells and tissues develop. In particular, norrin seems to play a critical role in the specialization of retinal cells fo... | Norrie disease |
Is Norrie disease inherited ? | This condition is inherited in an X-linked recessive 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 males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the co... | Norrie disease |
What are the treatments for Norrie disease ? | These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... | Norrie disease |
What is (are) infantile-onset spinocerebellar ataxia ? | Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary ... | infantile-onset spinocerebellar ataxia |
How many people are affected by infantile-onset spinocerebellar ataxia ? | More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe. | infantile-onset spinocerebellar ataxia |
What are the genetic changes related to infantile-onset spinocerebellar ataxia ? | Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a... | infantile-onset spinocerebellar ataxia |
Is infantile-onset spinocerebellar 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. | infantile-onset spinocerebellar ataxia |
What are the treatments for infantile-onset spinocerebellar ataxia ? | These resources address the diagnosis or management of IOSCA: - Gene Review: Gene Review: Infantile-Onset Spinocerebellar Ataxia - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) These resources from MedlinePlus offer information about the diagnosis and management of various h... | infantile-onset spinocerebellar ataxia |
What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ? | Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected indiv... | succinyl-CoA:3-ketoacid CoA transferase deficiency |
How many people are affected by succinyl-CoA:3-ketoacid CoA transferase deficiency ? | The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature. | succinyl-CoA:3-ketoacid CoA transferase deficiency |
What are the genetic changes related to succinyl-CoA:3-ketoacid CoA transferase deficiency ? | Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important... | succinyl-CoA:3-ketoacid CoA transferase deficiency |
Is succinyl-CoA:3-ketoacid CoA transferase 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. | succinyl-CoA:3-ketoacid CoA transferase deficiency |
What are the treatments for succinyl-CoA:3-ketoacid CoA transferase deficiency ? | These resources address the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency: - Genetic Testing Registry: Succinyl-CoA acetoacetate transferase deficiency - MedlinePlus Encyclopedia: Ketones--Urine - MedlinePlus Encyclopedia: Serum Ketones Test These resources from MedlinePlus offer in... | succinyl-CoA:3-ketoacid CoA transferase deficiency |
What is (are) hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure. He... | hereditary neuropathy with liability to pressure palsies |
How many people are affected by hereditary neuropathy with liability to pressure palsies ? | Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals. | hereditary neuropathy with liability to pressure palsies |
What are the genetic changes related to hereditary neuropathy with liability to pressure palsies ? | Mutations in the PMP22 gene cause hereditary neuropathy with liability to pressure palsies. Hereditary neuropathy with liability to pressure palsies is caused by the loss of one copy of the PMP22 gene or alterations within the gene. The consequences of PMP22 gene mutations are not clearly understood. Most likely, PMP2... | hereditary neuropathy with liability to pressure palsies |
Is hereditary neuropathy with liability to pressure palsies 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. | hereditary neuropathy with liability to pressure palsies |
What are the treatments for hereditary neuropathy with liability to pressure palsies ? | These resources address the diagnosis or management of hereditary neuropathy with liability to pressure palsies: - Gene Review: Gene Review: Hereditary Neuropathy with Liability to Pressure Palsies - Genetic Testing Registry: Hereditary liability to pressure palsies - MedlinePlus Encyclopedia: carpal tunnel syndrome... | hereditary neuropathy with liability to pressure palsies |
What is (are) ocular albinism ? | Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albini... | ocular albinism |
How many people are affected by ocular albinism ? | The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females. | ocular albinism |
What are the genetic changes related to ocular albinism ? | Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substan... | ocular albinism |
Is ocular albinism inherited ? | Ocular albinism type 1 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 males (who have only one X chromosome), one altered copy of the GPR143 gene in each cell is sufficient to cause t... | ocular albinism |
What are the treatments for ocular albinism ? | These resources address the diagnosis or management of ocular albinism: - Gene Review: Gene Review: Ocular Albinism, X-Linked - Genetic Testing Registry: Albinism ocular late onset sensorineural deafness - Genetic Testing Registry: Albinism, ocular, with sensorineural deafness - Genetic Testing Registry: Ocular alb... | ocular albinism |
What is (are) DOLK-congenital disorder of glycosylation ? | DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individual... | DOLK-congenital disorder of glycosylation |
How many people are affected by DOLK-congenital disorder of glycosylation ? | DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific literature. | DOLK-congenital disorder of glycosylation |
What are the genetic changes related to DOLK-congenital disorder of glycosylation ? | DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oli... | DOLK-congenital disorder of glycosylation |
Is DOLK-congenital disorder of glycosylation inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | DOLK-congenital disorder of glycosylation |
What are the treatments for DOLK-congenital disorder of glycosylation ? | These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy These resources from MedlinePlus o... | DOLK-congenital disorder of glycosylation |
What is (are) mucolipidosis III gamma ? | Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple s... | mucolipidosis III gamma |
How many people are affected by mucolipidosis III gamma ? | Mucolipidosis III gamma is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide. | mucolipidosis III gamma |
What are the genetic changes related to mucolipidosis III gamma ? | Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making one part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes... | mucolipidosis III gamma |
Is mucolipidosis III gamma 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. | mucolipidosis III gamma |
What are the treatments for mucolipidosis III gamma ? | These resources address the diagnosis or management of mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves These resources from MedlinePlus offer informat... | mucolipidosis III gamma |
What is (are) Hutchinson-Gilford progeria syndrome ? | Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive... | Hutchinson-Gilford progeria syndrome |
How many people are affected by Hutchinson-Gilford progeria syndrome ? | This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886. | Hutchinson-Gilford progeria syndrome |
What are the genetic changes related to Hutchinson-Gilford progeria syndrome ? | Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which... | Hutchinson-Gilford progeria syndrome |
Is Hutchinson-Gilford progeria syndrome inherited ? | Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family. | Hutchinson-Gilford progeria syndrome |
What are the treatments for Hutchinson-Gilford progeria syndrome ? | These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome: - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome - Genetic Testing Registry: Hutchinson-Gilford syndrome - MedlinePlus Encyclopedia: Progeria These resources from MedlinePlus offer information about the dia... | Hutchinson-Gilford progeria syndrome |
What is (are) Northern epilepsy ? | Northern epilepsy is a genetic condition that causes recurrent seizures (epilepsy) beginning in childhood, usually between ages 5 and 10. Seizures are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness. These seizures typically last less than 5 minutes but can... | Northern epilepsy |
How many people are affected by Northern epilepsy ? | Northern epilepsy appears to affect only individuals of Finnish ancestry, particularly those from the Kainuu region of northern Finland. Approximately 1 in 10,000 individuals in this region have the condition. | Northern epilepsy |
What are the genetic changes related to Northern epilepsy ? | Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved ... | Northern epilepsy |
Is Northern epilepsy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Northern epilepsy |
What are the treatments for Northern epilepsy ? | These resources address the diagnosis or management of Northern epilepsy: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant These resources from MedlinePlus offer information about the diagnosis and management of vari... | Northern epilepsy |
What is (are) mandibuloacral dysplasia ? | Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bone... | mandibuloacral dysplasia |
How many people are affected by mandibuloacral dysplasia ? | Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. | mandibuloacral dysplasia |
What are the genetic changes related to mandibuloacral dysplasia ? | The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. The LMNA gene pr... | mandibuloacral dysplasia |
Is mandibuloacral dysplasia 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. | mandibuloacral dysplasia |
What are the treatments for mandibuloacral dysplasia ? | These resources address the diagnosis or management of mandibuloacral dysplasia: - Genetic Testing Registry: Mandibuloacral dysostosis - Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various healt... | mandibuloacral dysplasia |
What is (are) sporadic hemiplegic migraine ? | Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be t... | sporadic hemiplegic migraine |
How many people are affected by sporadic hemiplegic migraine ? | The worldwide prevalence of sporadic hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the cond... | sporadic hemiplegic migraine |
What are the genetic changes related to sporadic hemiplegic migraine ? | Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. The proteins produced from these genes transport charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nerv... | sporadic hemiplegic migraine |
Is sporadic hemiplegic migraine inherited ? | Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (W... | sporadic hemiplegic migraine |
What are the treatments for sporadic hemiplegic migraine ? | These resources address the diagnosis or management of sporadic hemiplegic migraine: - Genetic Testing Registry: Migraine, sporadic hemiplegic - Journal of the American Medical Association Patient Page: Migraine Headache These resources from MedlinePlus offer information about the diagnosis and management of variou... | sporadic hemiplegic migraine |
What is (are) Silver syndrome ? | Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and c... | Silver syndrome |
How many people are affected by Silver syndrome ? | Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown. | Silver syndrome |
What are the genetic changes related to Silver syndrome ? | Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within ce... | Silver syndrome |
Is Silver syndrome inherited ? | Silver 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. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver... | Silver syndrome |
What are the treatments for Silver syndrome ? | These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments a... | Silver syndrome |
What is (are) methylmalonic acidemia ? | Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (h... | methylmalonic acidemia |
How many people are affected by methylmalonic acidemia ? | This condition occurs in an estimated 1 in 50,000 to 100,000 people. | methylmalonic acidemia |
What are the genetic changes related to methylmalonic acidemia ? | Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. This gene provides instructi... | methylmalonic acidemia |
Is methylmalonic acidemia inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the MUT, MMAA, MMAB, MMADHC, or MCEE gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition are carriers of one copy of the mutated gene but do not show signs and symptoms ... | methylmalonic acidemia |
What are the treatments for methylmalonic acidemia ? | These resources address the diagnosis or management of methylmalonic acidemia: - Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) - Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) - Gene Review: Gene Review: Isolated Methylmalonic Acidemia - Genetic Testing Registry: Me... | methylmalonic acidemia |
What is (are) dilated cardiomyopathy with ataxia syndrome ? | Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems. Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weak... | dilated cardiomyopathy with ataxia syndrome |
How many people are affected by dilated cardiomyopathy with ataxia syndrome ? | DCMA syndrome is a very rare disorder. Approximately 30 cases have been identified in the Dariusleut Hutterite population of the Great Plains region of Canada. Only a few affected individuals have been identified outside this population. | dilated cardiomyopathy with ataxia syndrome |
What are the genetic changes related to dilated cardiomyopathy with ataxia syndrome ? | Mutations in the DNAJC19 gene cause DCMA syndrome. The DNAJC19 gene provides instructions for making a protein found in structures called mitochondria, which are the energy-producing centers of cells. While the exact function of the DNAJC19 protein is unclear, it may regulate the transport of other proteins into and ou... | dilated cardiomyopathy with ataxia syndrome |
Is dilated cardiomyopathy with ataxia 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. | dilated cardiomyopathy with ataxia syndrome |
What are the treatments for dilated cardiomyopathy with ataxia syndrome ? | These resources address the diagnosis or management of dilated cardiomyopathy with ataxia syndrome: - Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy - Baby's First Test - Genetic Testing Registry: 3-methylglutaconic aciduria type V - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National... | dilated cardiomyopathy with ataxia syndrome |
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