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What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirtie... | cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
How many people are affected by cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | CARASIL appears to be a rare condition. It has been identified in about 50 people, primarily in Japan and China. | cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essen... | cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? | As its name suggests, this condition is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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... | cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
What are the treatments for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus offer information about the diagnosis and management of various... | cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
What is (are) generalized arterial calcification of infancy ? | Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life. It is characterized by abnormal accumulation of the mineral calcium (calcification) in the walls of the blood vessels that carry blood from the h... | generalized arterial calcification of infancy |
How many people are affected by generalized arterial calcification of infancy ? | The prevalence of GACI has been estimated to be about 1 in 391,000. At least 200 affected individuals have been described in the medical literature. | generalized arterial calcification of infancy |
What are the genetic changes related to generalized arterial calcification of infancy ? | In about two-thirds of cases, GACI is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). Extracellular ATP is quickly broken down into other mole... | generalized arterial calcification of infancy |
Is generalized arterial calcification of infancy 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. | generalized arterial calcification of infancy |
What are the treatments for generalized arterial calcification of infancy ? | These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resources from MedlinePlus offer information about the diagnosis and management of various health c... | generalized arterial calcification of infancy |
What is (are) otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In genera... | otopalatodigital syndrome type 1 |
How many people are affected by otopalatodigital syndrome type 1 ? | Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 in every 100,000 individuals. Its specific incidence is unknown. | otopalatodigital syndrome type 1 |
What are the genetic changes related to otopalatodigital syndrome type 1 ? | Mutations in the FLNA gene cause otopalatodigital syndrome type 1. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called... | otopalatodigital syndrome type 1 |
Is otopalatodigital syndrome type 1 inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... | otopalatodigital syndrome type 1 |
What are the treatments for otopalatodigital syndrome type 1 ? | These resources address the diagnosis or management of otopalatodigital syndrome type 1: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type I These resources from MedlinePlus offer information about the diagnosis and management of various he... | otopalatodigital syndrome type 1 |
What is (are) oculodentodigital dysplasia ? | Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequen... | oculodentodigital dysplasia |
How many people are affected by oculodentodigital dysplasia ? | The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed. | oculodentodigital dysplasia |
What are the genetic changes related to oculodentodigital dysplasia ? | Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin43 proteins are found in man... | oculodentodigital dysplasia |
Is oculodentodigital dysplasia inherited ? | Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occ... | oculodentodigital dysplasia |
What are the treatments for oculodentodigital dysplasia ? | These resources address the diagnosis or management of oculodentodigital dysplasia: - Genetic Testing Registry: Oculodentodigital dysplasia - MedlinePlus Encyclopedia: Webbing of the fingers or toes - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction These resources from MedlinePlus offer informa... | oculodentodigital dysplasia |
What is (are) succinic semialdehyde dehydrogenase deficiency ? | Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a variety of neurological problems. People with this condition typically have developmental delay, especially involving speech development; intellectual disability; and decreased muscle tone (hypotonia) soon after birth. About half of those aff... | succinic semialdehyde dehydrogenase deficiency |
How many people are affected by succinic semialdehyde dehydrogenase deficiency ? | Approximately 350 people with succinic semialdehyde dehydrogenase deficiency have been reported worldwide. | succinic semialdehyde dehydrogenase deficiency |
What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ? | Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyri... | succinic semialdehyde dehydrogenase deficiency |
Is succinic semialdehyde dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | succinic semialdehyde dehydrogenase deficiency |
What are the treatments for succinic semialdehyde dehydrogenase deficiency ? | These resources address the diagnosis or management of succinic semialdehyde dehydrogenase deficiency: - Gene Review: Gene Review: Succinic Semialdehyde Dehydrogenase Deficiency - Genetic Testing Registry: Succinate-semialdehyde dehydrogenase deficiency - MedlinePlus Encyclopedia: Hyperactivity These resources fro... | succinic semialdehyde dehydrogenase deficiency |
What is (are) Muenke syndrome ? | Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the he... | Muenke syndrome |
How many people are affected by Muenke syndrome ? | Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis. | Muenke syndrome |
What are the genetic changes related to Muenke syndrome ? | Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, ... | Muenke syndrome |
Is Muenke 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. | Muenke syndrome |
What are the treatments for Muenke syndrome ? | These resources address the diagnosis or management of Muenke syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Gene Review: Gene Review: Muenke Syndrome - Genetic Testing Registry: Muenke syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer in... | Muenke syndrome |
What is (are) autoimmune Addison disease ? | Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormone... | autoimmune Addison disease |
How many people are affected by autoimmune Addison disease ? | Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases. | autoimmune Addison disease |
What are the genetic changes related to autoimmune Addison disease ? | The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition. The genes that have been associated with autoimmune Addison diseas... | autoimmune Addison disease |
Is autoimmune Addison disease inherited ? | A predisposition to develop autoimmune Addison disease is passed through generations in families, but the inheritance pattern is unknown. | autoimmune Addison disease |
What are the treatments for autoimmune Addison disease ? | These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | autoimmune Addison disease |
What is (are) peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes ... | peroxisomal acyl-CoA oxidase deficiency |
How many people are affected by peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described in the medical literature. | peroxisomal acyl-CoA oxidase deficiency |
What are the genetic changes related to peroxisomal acyl-CoA oxidase deficiency ? | Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many... | peroxisomal acyl-CoA oxidase deficiency |
Is peroxisomal acyl-CoA oxidase 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. | peroxisomal acyl-CoA oxidase deficiency |
What are the treatments for peroxisomal acyl-CoA oxidase deficiency ? | These resources address the diagnosis or management of peroxisomal acyl-CoA oxidase deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Pseudoneonatal adrenoleukodystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health ... | peroxisomal acyl-CoA oxidase deficiency |
What is (are) familial dilated cardiomyopathy ? | Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all... | familial dilated cardiomyopathy |
How many people are affected by familial dilated cardiomyopathy ? | It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. | familial dilated cardiomyopathy |
What are the genetic changes related to familial dilated cardiomyopathy ? | Mutations in more than 30 genes have been found to cause familial dilated cardiomyopathy. These genes provide instructions for making proteins that are found in cardiac muscle cells called cardiomyocytes. Many of these proteins play important roles in the contraction of the cardiac muscle through their association wit... | familial dilated cardiomyopathy |
Is familial dilated cardiomyopathy inherited ? | Familial dilated cardiomyopathy has different inheritance patterns depending on the gene involved. In 80 to 90 percent of cases, familial dilated cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an af... | familial dilated cardiomyopathy |
What are the treatments for familial dilated cardiomyopathy ? | These resources address the diagnosis or management of familial dilated cardiomyopathy: - Cincinnati Children's Hospital - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Gene Review: Gene Review: LMNA-Related Dilated Cardiomyopathy - MedlinePlus Encyclope... | familial dilated cardiomyopathy |
What is (are) McKusick-Kaufman syndrome ? | McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities. Most females with McKusick-Kaufman syndrome are born wi... | McKusick-Kaufman syndrome |
How many people are affected by McKusick-Kaufman syndrome ? | This condition was first described in the Old Order Amish population, where it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman syndrome in non-Amish populations is unknown. | McKusick-Kaufman syndrome |
What are the genetic changes related to McKusick-Kaufman syndrome ? | Mutations in the MKKS gene cause McKusick-Kaufman syndrome. This gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The protein's structure suggests that it may act as a chaperonin, which is a type of protein that helps fold other ... | McKusick-Kaufman syndrome |
Is McKusick-Kaufman 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. | McKusick-Kaufman syndrome |
What are the treatments for McKusick-Kaufman syndrome ? | These resources address the diagnosis or management of McKusick-Kaufman syndrome: - Gene Review: Gene Review: McKusick-Kaufman Syndrome - Genetic Testing Registry: McKusick Kaufman syndrome - MedlinePlus Encyclopedia: Polydactyly These resources from MedlinePlus offer information about the diagnosis and management... | McKusick-Kaufman syndrome |
What is (are) piebaldism ? | Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 p... | piebaldism |
How many people are affected by piebaldism ? | The prevalence of piebaldism is unknown. | piebaldism |
What are the genetic changes related to piebaldism ? | Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms. The KIT gene provides instructions for making a protein that is involved in signaling withi... | piebaldism |
Is piebaldism 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. | piebaldism |
What are the treatments for piebaldism ? | These resources address the diagnosis or management of piebaldism: - Genetic Testing Registry: Partial albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... | piebaldism |
What is (are) essential tremor ? | Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or sym... | essential tremor |
How many people are affected by essential tremor ? | Essential tremor is a common disorder, affecting up to 10 million people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as other factors such as certain medications, can result in similar tremors. In addition, mild cases are often not brought to medical attention,... | essential tremor |
What are the genetic changes related to essential tremor ? | The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing th... | essential tremor |
Is essential tremor inherited ? | Essential tremor can be passed through generations in families, but the inheritance pattern varies. In most affected families, essential tremor appears to be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes that cause... | essential tremor |
What are the treatments for essential tremor ? | These resources address the diagnosis or management of essential tremor: - Genetic Testing Registry: Hereditary essential tremor 1 - Johns Hopkins Movement Disorders Center - MedlinePlus Encyclopedia: Essential Tremor These resources from MedlinePlus offer information about the diagnosis and management of various ... | essential tremor |
What is (are) pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate c... | pyruvate carboxylase deficiency |
How many people are affected by pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada. | pyruvate carboxylase deficiency |
What are the genetic changes related to pyruvate carboxylase deficiency ? | Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation... | pyruvate carboxylase deficiency |
Is pyruvate carboxylase 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. | pyruvate carboxylase deficiency |
What are the treatments for pyruvate carboxylase deficiency ? | These resources address the diagnosis or management of pyruvate carboxylase deficiency: - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency - Genetic Testing Registry: Pyruvate carboxylase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | pyruvate carboxylase deficiency |
What is (are) iron-refractory iron deficiency anemia ? | Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. Iron-refractory iron deficiency anemia results from an inadequ... | iron-refractory iron deficiency anemia |
How many people are affected by iron-refractory iron deficiency anemia ? | Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild sympt... | iron-refractory iron deficiency anemia |
What are the genetic changes related to iron-refractory iron deficiency anemia ? | Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage o... | iron-refractory iron deficiency anemia |
Is iron-refractory iron deficiency anemia 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. | iron-refractory iron deficiency anemia |
What are the treatments for iron-refractory iron deficiency anemia ? | These resources address the diagnosis or management of iron-refractory iron deficiency anemia: - National Heart, Lung, and Blood Institute: How is Anemia Diagnosed? - National Heart, Lung, and Blood Institute: How is Anemia Treated? These resources from MedlinePlus offer information about the diagnosis and manageme... | iron-refractory iron deficiency anemia |
What is (are) Greenberg dysplasia ? | Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition... | Greenberg dysplasia |
How many people are affected by Greenberg dysplasia ? | Greenberg dysplasia is a very rare condition. Approximately ten cases have been reported in the scientific literature. | Greenberg dysplasia |
What are the genetic changes related to Greenberg dysplasia ? | Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in th... | Greenberg dysplasia |
Is Greenberg 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. | Greenberg dysplasia |
What are the treatments for Greenberg dysplasia ? | These resources address the diagnosis or management of Greenberg dysplasia: - Genetic Testing Registry: Greenberg dysplasia - Lurie Children's Hospital of Chicago: Fetal Skeletal Dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnost... | Greenberg dysplasia |
What is (are) long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficul... | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
How many people are affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower. | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein co... | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
Is long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
What are the treatments for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of LCHAD deficiency: - Baby's First Test - Genetic Testing Registry: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Hypoglycemia - MedlinePlus Encyclopedia: Peripheral Neuropathy These resources from MedlinePlus offer informati... | long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
What is (are) autosomal dominant congenital stationary night blindness ? | Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able... | autosomal dominant congenital stationary night blindness |
How many people are affected by autosomal dominant congenital stationary night blindness ? | Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown. | autosomal dominant congenital stationary night blindness |
What are the genetic changes related to autosomal dominant congenital stationary night blindness ? | Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness. The proteins produced from these genes are necessary for normal vision, particularly in low-light conditions. These proteins are found in specialized light receptor cells in the retina called rods. Rods transmit v... | autosomal dominant congenital stationary night blindness |
Is autosomal dominant congenital stationary night blindness 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. | autosomal dominant congenital stationary night blindness |
What are the treatments for autosomal dominant congenital stationary night blindness ? | These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | autosomal dominant congenital stationary night blindness |
What is (are) X-linked intellectual disability, Siderius type ? | X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius ty... | X-linked intellectual disability, Siderius type |
How many people are affected by X-linked intellectual disability, Siderius type ? | While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature. | X-linked intellectual disability, Siderius type |
What are the genetic changes related to X-linked intellectual disability, Siderius type ? | X-linked intellectual disability, Siderius type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the nucleus of cells, particularly in brain cells before and just after birth. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the ac... | X-linked intellectual disability, Siderius type |
Is X-linked intellectual disability, Siderius type inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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 condition. In females (who have t... | X-linked intellectual disability, Siderius type |
What are the treatments for X-linked intellectual disability, Siderius type ? | These resources address the diagnosis or management of X-linked intellectual disability, Siderius type: - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding - Cleveland Clinic: Cleft Lip & Palate Surgery - Genetic Testing Registry: Siderius X-linked mental retardation syndrome - Nemours Childre... | X-linked intellectual disability, Siderius type |
What is (are) fatty acid hydroxylase-associated neurodegeneration ? | Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence. Changes in the way a person walks (gait) and frequent falls are usually the first noticeable sign... | fatty acid hydroxylase-associated neurodegeneration |
How many people are affected by fatty acid hydroxylase-associated neurodegeneration ? | FAHN is a rare disorder; only a few dozen cases have been reported. | fatty acid hydroxylase-associated neurodegeneration |
What are the genetic changes related to fatty acid hydroxylase-associated neurodegeneration ? | Mutations in the FA2H gene cause FAHN. The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular poi... | fatty acid hydroxylase-associated neurodegeneration |
Is fatty acid hydroxylase-associated neurodegeneration inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | fatty acid hydroxylase-associated neurodegeneration |
What are the treatments for fatty acid hydroxylase-associated neurodegeneration ? | These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 These resources from MedlinePlus offer information about the diagnosis and man... | fatty acid hydroxylase-associated neurodegeneration |
What is (are) hystrix-like ichthyosis with deafness ? | Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. Newborns with HID typic... | hystrix-like ichthyosis with deafness |
How many people are affected by hystrix-like ichthyosis with deafness ? | HID is a rare disorder. Its prevalence is unknown. | hystrix-like ichthyosis with deafness |
What are the genetic changes related to hystrix-like ichthyosis with deafness ? | HID is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged a... | hystrix-like ichthyosis with deafness |
Is hystrix-like ichthyosis with deafness inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor... | hystrix-like ichthyosis with deafness |
What are the treatments for hystrix-like ichthyosis with deafness ? | These resources address the diagnosis or management of hystrix-like ichthyosis with deafness: - Foundation for Ichthyosis and Related Skin Types: Ichthyosis Hystrix - Genetic Testing Registry: Hystrix-like ichthyosis with deafness These resources from MedlinePlus offer information about the diagnosis and management... | hystrix-like ichthyosis with deafness |
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