qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to Bjrnstad syndrome ? | Bjrnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process t... |
inheritance | Is Bjrnstad syndrome inherited ? | Bjrnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Bjrnstad syndrome ? | These resources address the diagnosis or management of Bjrnstad syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children: Screening and Diagnosis - Genetic Testing Registry: Pili torti-deafness syndrome These resources from MedlinePlus offer information about the diagnosis and management of ... |
information | What is (are) chordoma ? | A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to ... |
frequency | How many people are affected by chordoma ? | Chordomas are rare, occurring in approximately 1 per million individuals each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain and spinal cord. |
genetic changes | What are the genetic changes related to chordoma ? | Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no hist... |
inheritance | Is chordoma inherited ? | When development of a chordoma is associated with a duplication of the T gene inherited from a parent, one copy of the altered gene in each cell is sufficient to increase the risk of the disorder, which is an inheritance pattern called autosomal dominant. People with this duplication inherit an increased risk of this c... |
treatment | What are the treatments for chordoma ? | These resources address the diagnosis or management of chordoma: - Chordoma Foundation: Treatment - Duke Spine Center - Genetic Testing Registry: Chordoma - Massachusetts General Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... |
information | What is (are) juvenile Paget disease ? | Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usu... |
frequency | How many people are affected by juvenile Paget disease ? | Juvenile Paget disease is rare; about 50 affected individuals have been identified worldwide. |
genetic changes | What are the genetic changes related to juvenile Paget disease ? | Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully cont... |
inheritance | Is juvenile Paget 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 juvenile Paget disease ? | These resources address the diagnosis or management of juvenile Paget disease: - Genetic Testing Registry: Hyperphosphatasemia with bone disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehab... |
information | What is (are) anencephaly ? | Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spin... |
frequency | How many people are affected by anencephaly ? | Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly. |
genetic changes | What are the genetic changes related to anencephaly ? | Anencephaly is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Changes in dozens of genes in individuals with anencephaly and in their mothers may influence the risk of developing this type ... |
inheritance | Is anencephaly inherited ? | Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of... |
treatment | What are the treatments for anencephaly ? | These resources address the diagnosis or management of anencephaly: - Children's Hospital of Philadelphia - Genetic Testing Registry: Anencephalus - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive These resources from MedlinePlus offer information abo... |
information | What is (are) Adams-Oliver syndrome ? | Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome. Most people with Adams-Oliver syndrome have aplasi... |
frequency | How many people are affected by Adams-Oliver syndrome ? | Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to Adams-Oliver syndrome ? | Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important r... |
inheritance | Is Adams-Oliver syndrome inherited ? | Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The a... |
treatment | What are the treatments for Adams-Oliver syndrome ? | These resources address the diagnosis or management of Adams-Oliver syndrome: - Contact a Family - Gene Review: Gene Review: Adams-Oliver Syndrome - Genetic Testing Registry: Adams-Oliver syndrome - Genetic Testing Registry: Adams-Oliver syndrome 5 - Genetic Testing Registry: Adams-Oliver syndrome 6 These resour... |
information | What is (are) Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and 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 of the characteristic facial features of Jackson-Weiss syndrom... |
frequency | How many people are affected by Jackson-Weiss syndrome ? | Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown. |
genetic changes | What are the genetic changes related to Jackson-Weiss syndrome ? | Mutations in the FGFR2 gene cause Jackson-Weiss 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. A mutation in a specific part of the FGFR2 gene ... |
inheritance | Is Jackson-Weiss 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. |
treatment | What are the treatments for Jackson-Weiss syndrome ? | These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis a... |
information | What is (are) mucolipidosis II alpha/beta ? | Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Aff... |
frequency | How many people are affected by mucolipidosis II alpha/beta ? | Mucolipidosis II alpha/beta 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. |
genetic changes | What are the genetic changes related to mucolipidosis II alpha/beta ? | Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part 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 to break... |
inheritance | Is mucolipidosis II alpha/beta 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 mucolipidosis II alpha/beta ? | These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis These resources f... |
information | What is (are) myoclonus-dystonia ? | Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected ... |
frequency | How many people are affected by myoclonus-dystonia ? | The prevalence of myoclonus-dystonia is unknown. This condition has been described in people worldwide. |
genetic changes | What are the genetic changes related to myoclonus-dystonia ? | Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in musc... |
inheritance | Is myoclonus-dystonia inherited ? | Myoclonus-dystonia 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 cel... |
treatment | What are the treatments for myoclonus-dystonia ? | These resources address the diagnosis or management of myoclonus-dystonia: - Gene Review: Gene Review: Myoclonus-Dystonia - Genetic Testing Registry: Myoclonic dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... |
information | What is (are) complete LCAT deficiency ? | Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distri... |
frequency | How many people are affected by complete LCAT deficiency ? | Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to complete LCAT deficiency ? | Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry i... |
inheritance | Is complete LCAT 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 complete LCAT deficiency ? | These resources address the diagnosis or management of complete LCAT deficiency: - Genetic Testing Registry: Norum disease - MedlinePlus Encyclopedia: Corneal Transplant - National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? - National Institutes of Diabetes and Digestive and Kidney Diseases:... |
information | What is (are) Peters plus syndrome ? | Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability. The eye problems in Peters plus syndrome occur in an ... |
frequency | How many people are affected by Peters plus syndrome ? | Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer than 80 people with this condition have been reported worldwide. |
genetic changes | What are the genetic changes related to Peters plus syndrome ? | Mutations in the B3GLCT gene cause Peters plus syndrome. The B3GLCT gene provides instructions for making an enzyme called beta 3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider var... |
inheritance | Is Peters plus syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Peters plus syndrome ? | These resources address the diagnosis or management of Peters plus syndrome: - Gene Review: Gene Review: Peters Plus Syndrome - Genetic Testing Registry: Peters plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... |
information | What is (are) Holt-Oram syndrome ? | Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these w... |
frequency | How many people are affected by Holt-Oram syndrome ? | Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. |
genetic changes | What are the genetic changes related to Holt-Oram syndrome ? | Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septati... |
inheritance | Is Holt-Oram 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. |
treatment | What are the treatments for Holt-Oram syndrome ? | These resources address the diagnosis or management of Holt-Oram syndrome: - Gene Review: Gene Review: Holt-Oram Syndrome - Genetic Testing Registry: Holt-Oram syndrome - MedlinePlus Encyclopedia: Atrial Septal Defect - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities - MedlinePlus Encyclopedia: Ventricular S... |
information | What is (are) essential thrombocythemia ? | Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal bloo... |
frequency | How many people are affected by essential thrombocythemia ? | Essential thrombocythemia affects an estimated 1 to 24 per 1 million people worldwide. |
genetic changes | What are the genetic changes related to essential thrombocythemia ? | The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provide... |
inheritance | Is essential thrombocythemia inherited ? | Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one ... |
treatment | What are the treatments for essential thrombocythemia ? | These resources address the diagnosis or management of essential thrombocythemia: - Cleveland Clinic: Thrombocytosis - Genetic Testing Registry: Essential thrombocythemia - Merck Manual for Health Care Professionals: Essential Thrombocythemia These resources from MedlinePlus offer information about the diagnosis a... |
information | What is (are) familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolate... |
frequency | How many people are affected by familial isolated hyperparathyroidism ? | The prevalence of familial isolated hyperparathyroidism is unknown. |
genetic changes | What are the genetic changes related to familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled ... |
inheritance | Is familial isolated hyperparathyroidism inherited ? | This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for familial isolated hyperparathyroidism ? | These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePl... |
information | What is (are) polycystic kidney disease ? | Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts... |
frequency | How many people are affected by polycystic kidney disease ? | Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recess... |
genetic changes | What are the genetic changes related to polycystic kidney disease ? | Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose ... |
inheritance | Is polycystic kidney disease inherited ? | Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases... |
treatment | What are the treatments for polycystic kidney disease ? | These resources address the diagnosis or management of polycystic kidney disease: - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Dominant - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Recessive - Genetic Testing Registry: Polycystic kidney disease 2 - Genetic Testing Registry: P... |
information | What is (are) familial cylindromatosis ? | Familial cylindromatosis 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 familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive f... |
frequency | How many people are affected by familial cylindromatosis ? | Familial cylindromatosis is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to familial cylindromatosis ? | Familial cylindromatosis is 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. In regulating... |
inheritance | Is familial cylindromatosis inherited ? | Susceptibility to familial cylindromatosis 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 familial cylindromatosis ? | These resources address the diagnosis or management of familial cylindromatosis: - Genetic Testing Registry: Cylindromatosis, familial These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... |
information | What is (are) acute promyelocytic leukemia ? | Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes... |
frequency | How many people are affected by acute promyelocytic leukemia ? | Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in 250,000 people in the United States. |
genetic changes | What are the genetic changes related to acute promyelocytic leukemia ? | The mutation that causes acute promyelocytic leukemia involves two genes, the PML gene on chromosome 15 and the RARA gene on chromosome 17. A rearrangement of genetic material (translocation) between chromosomes 15 and 17, written as t(15;17), fuses part of the PML gene with part of the RARA gene. The protein produced ... |
inheritance | Is acute promyelocytic leukemia inherited ? | Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception. |
treatment | What are the treatments for acute promyelocytic leukemia ? | These resources address the diagnosis or management of acute promyelocytic leukemia: - American Cancer Society: Diagnosis of Acute Myeloid Leukemia - American Cancer Society: Treatment of Acute Promyelocytic (M3) Leukemia - Genetic Testing Registry: Acute promyelocytic leukemia - MedlinePlus Encyclopedia: Acute Mye... |
information | What is (are) Horner syndrome ? | Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital). Horner syndrome is characterized ... |
frequency | How many people are affected by Horner syndrome ? | About 1 in 6,250 babies are born with Horner syndrome. The incidence of Horner syndrome that appears later is unknown, but it is considered an uncommon disorder. |
genetic changes | What are the genetic changes related to Horner syndrome ? | Although congenital Horner syndrome can be passed down in families, no associated genes have been identified. Horner syndrome that appears after the newborn period (acquired Horner syndrome) and most cases of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong t... |
inheritance | Is Horner syndrome inherited ? | Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal do... |
treatment | What are the treatments for Horner syndrome ? | These resources address the diagnosis or management of Horner syndrome: - Genetic Testing Registry: Horner syndrome, congenital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... |
information | What is (are) giant axonal neuropathy ? | Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This c... |
frequency | How many people are affected by giant axonal neuropathy ? | Giant axonal neuropathy is a very rare disorder; the incidence is unknown. |
genetic changes | What are the genetic changes related to giant axonal neuropathy ? | Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin pr... |
inheritance | Is giant axonal neuropathy inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for giant axonal neuropathy ? | These resources address the diagnosis or management of giant axonal neuropathy: - Gene Review: Gene Review: Giant Axonal Neuropathy - Genetic Testing Registry: Giant axonal neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Te... |
information | What is (are) familial hemophagocytic lymphohistiocytosis ? | Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of... |
frequency | How many people are affected by familial hemophagocytic lymphohistiocytosis ? | Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide. |
genetic changes | What are the genetic changes related to familial hemophagocytic lymphohistiocytosis ? | Familial hemophagocytic lymphohistiocytosis may be caused by mutations in any of several genes. These genes provide instructions for making proteins that help destroy or deactivate lymphocytes that are no longer needed. By controlling the number of activated lymphocytes, these genes help regulate immune system function... |
inheritance | Is familial hemophagocytic lymphohistiocytosis 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 familial hemophagocytic lymphohistiocytosis ? | These resources address the diagnosis or management of familial hemophagocytic lymphohistiocytosis: - Gene Review: Gene Review: Hemophagocytic Lymphohistiocytosis, Familial - Genetic Testing Registry: Familial hemophagocytic lymphohistiocytosis - Genetic Testing Registry: Hemophagocytic lymphohistiocytosis, familial... |
information | What is (are) dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appe... |
frequency | How many people are affected by dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome appears to be a rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe that the condition is probably underdiagnosed because its signs and symptoms overlap with cerebral palsy and other movement disorders. |
genetic changes | What are the genetic changes related to dopamine transporter deficiency syndrome ? | Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. ... |
inheritance | Is dopamine transporter deficiency syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for dopamine transporter deficiency syndrome ? | These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | What is (are) globozoospermia ? | Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane... |
frequency | How many people are affected by globozoospermia ? | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility. |
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