problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) familial isolated pituitary adenoma ? | Familial isolated pituitary adenoma (FIPA) is an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions. Tumors that form in ... | familial isolated pituitary adenoma |
How many people are affected by familial isolated pituitary adenoma ? | Pituitary adenomas, including sporadic tumors, are relatively common; they are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More than 200 families with FIPA have been described in the medical literature. | familial isolated pituitary adenoma |
What are the genetic changes related to familial isolated pituitary adenoma ? | FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the prod... | familial isolated pituitary adenoma |
Is familial isolated pituitary adenoma inherited ? | FIPA is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 20 to 30 percent of individuals with an AIP gene mutation develop a pituitary adenoma. This phenomenon, in which some individuals with a mutation do not develop th... | familial isolated pituitary adenoma |
What are the treatments for familial isolated pituitary adenoma ? | These resources address the diagnosis or management of familial isolated pituitary adenoma: - American Cancer Society: How are Pituitary Tumors Diagnosed? - Gene Review: Gene Review: AIP-Related Familial Isolated Pituitary Adenomas - Genetic Testing Registry: AIP-Related Familial Isolated Pituitary Adenomas - Medli... | familial isolated pituitary adenoma |
What is (are) CAV3-related distal myopathy ? | CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and wea... | CAV3-related distal myopathy |
How many people are affected by CAV3-related distal myopathy ? | The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature. | CAV3-related distal myopathy |
What are the genetic changes related to CAV3-related distal myopathy ? | CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component ... | CAV3-related distal myopathy |
Is CAV3-related distal myopathy 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 most cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occu... | CAV3-related distal myopathy |
What are the treatments for CAV3-related distal myopathy ? | These resources address the diagnosis or management of CAV3-related distal myopathy: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: CAV3-Related Distal Myopathy - Genetic Testing Registry: Distal myopathy, Tateyama type - MedlinePlus Encyclopedia: Electromyography - MedlinePlus Encycloped... | CAV3-related distal myopathy |
What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS var... | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
How many people are affected by Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 per million people. At least 19 cases have been reported in the medical literature. | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
What are the genetic changes related to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | The SBBYS variant of Ohdo syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule... | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ? | This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family. | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
What are the treatments for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ? | These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
What is (are) systemic scleroderma ? | Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibro... | systemic scleroderma |
How many people are affected by systemic scleroderma ? | The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more likely to develop the condition than men. | systemic scleroderma |
What are the genetic changes related to systemic scleroderma ? | Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from protei... | systemic scleroderma |
Is systemic scleroderma inherited ? | Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders. A small percentage of all cases of systemic scleroderma have been reported to run in f... | systemic scleroderma |
What are the treatments for systemic scleroderma ? | These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health co... | systemic scleroderma |
What is (are) Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocep... | Bowen-Conradi syndrome |
How many people are affected by Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the me... | Bowen-Conradi syndrome |
What are the genetic changes related to Bowen-Conradi syndrome ? | Bowen-Conradi syndrome is caused by a mutation in the EMG1 gene. This gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the... | Bowen-Conradi syndrome |
Is Bowen-Conradi 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. | Bowen-Conradi syndrome |
What are the treatments for Bowen-Conradi syndrome ? | These resources address the diagnosis or management of Bowen-Conradi syndrome: - Genetic Testing Registry: Bowen-Conradi syndrome - MedlinePlus Encyclopedia: Feeding Tube--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | Bowen-Conradi syndrome |
What is (are) lactose intolerance ? | Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in w... | lactose intolerance |
How many people are affected by lactose intolerance ? | Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy.... | lactose intolerance |
What are the genetic changes related to lactose intolerance ? | Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely ... | lactose intolerance |
Is lactose intolerance inherited ? | The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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... | lactose intolerance |
What are the treatments for lactose intolerance ? | These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests These resources... | lactose intolerance |
What is (are) Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers;... | Nakajo-Nishimura syndrome |
How many people are affected by Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature. | Nakajo-Nishimura syndrome |
What are the genetic changes related to Nakajo-Nishimura syndrome ? | Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response... | Nakajo-Nishimura syndrome |
Is Nakajo-Nishimura 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. | Nakajo-Nishimura syndrome |
What are the treatments for Nakajo-Nishimura syndrome ? | These resources address the diagnosis or management of Nakajo-Nishimura syndrome: - Genetic Testing Registry: Nakajo syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... | Nakajo-Nishimura syndrome |
What is (are) congenital plasminogen deficiency ? | Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously i... | congenital plasminogen deficiency |
How many people are affected by congenital plasminogen deficiency ? | The prevalence of congenital plasminogen deficiency has been estimated at 1.6 per one million people. This condition is believed to be underdiagnosed, because growths in one area are often not recognized as being a feature of a disorder that affects many body systems. Mild cases likely never come to medical attention. | congenital plasminogen deficiency |
What are the genetic changes related to congenital plasminogen deficiency ? | Congenital plasminogen deficiency is caused by mutations in the PLG gene. This gene provides instructions for making a protein called plasminogen. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in b... | congenital plasminogen deficiency |
Is congenital plasminogen 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. | congenital plasminogen deficiency |
What are the treatments for congenital plasminogen deficiency ? | These resources address the diagnosis or management of congenital plasminogen deficiency: - Genetic Testing Registry: Plasminogen deficiency, type I - Indiana Hemophilia and Thrombosis Center - Plasminogen Deficiency Registry These resources from MedlinePlus offer information about the diagnosis and management of ... | congenital plasminogen deficiency |
What is (are) autosomal dominant nocturnal frontal lobe epilepsy ? | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day. The seizures characteristic of ADNF... | autosomal dominant nocturnal frontal lobe epilepsy |
How many people are affected by autosomal dominant nocturnal frontal lobe epilepsy ? | ADNFLE appears to be an uncommon form of epilepsy; its prevalence is unknown. This condition has been reported in more than 100 families worldwide. | autosomal dominant nocturnal frontal lobe epilepsy |
What are the genetic changes related to autosomal dominant nocturnal frontal lobe epilepsy ? | Mutations in the CHRNA2, CHRNA4, and CHRNB2 genes can cause ADNFLE. These genes provide instructions for making different parts (subunits) of a larger molecule called a neuronal nicotinic acetylcholine receptor (nAChR). This receptor plays an important role in chemical signaling between nerve cells (neurons) in the bra... | autosomal dominant nocturnal frontal lobe epilepsy |
Is autosomal dominant nocturnal frontal lobe epilepsy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to raise the risk of developing epilepsy. About 70 percent of people who inherit a mutation in the CHRNA2, CHRNA4, or CHRNB2 gene will develop seizures. In most cases, an affected person has... | autosomal dominant nocturnal frontal lobe epilepsy |
What are the treatments for autosomal dominant nocturnal frontal lobe epilepsy ? | These resources address the diagnosis or management of ADNFLE: - Gene Review: Gene Review: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 1 - Genetic Testing Registry: Epilepsy, nocturnal frontal lobe, type 2 - Genetic Testing Registry: Epilepsy... | autosomal dominant nocturnal frontal lobe epilepsy |
What is (are) multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepithel... | multiple familial trichoepithelioma |
How many people are affected by multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma is a rare disorder; its prevalence is unknown. | multiple familial trichoepithelioma |
What are the genetic changes related to multiple familial trichoepithelioma ? | Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals... | multiple familial trichoepithelioma |
Is multiple familial trichoepithelioma inherited ? | Susceptibility to multiple familial trichoepithelioma has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. | multiple familial trichoepithelioma |
What are the treatments for multiple familial trichoepithelioma ? | These resources address the diagnosis or management of multiple familial trichoepithelioma: - Genetic Testing Registry: Familial multiple trichoepitheliomata - Genetic Testing Registry: Trichoepithelioma multiple familial 2 These resources from MedlinePlus offer information about the diagnosis and management of var... | multiple familial trichoepithelioma |
What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals hav... | congenital deafness with labyrinthine aplasia, microtia, and microdontia |
How many people are affected by congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. | congenital deafness with labyrinthine aplasia, microtia, and microdontia |
What are the genetic changes related to congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes... | congenital deafness with labyrinthine aplasia, microtia, and microdontia |
Is congenital deafness with labyrinthine aplasia, microtia, and microdontia 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. | congenital deafness with labyrinthine aplasia, microtia, and microdontia |
What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) These resources from MedlinePlus offer information... | congenital deafness with labyrinthine aplasia, microtia, and microdontia |
What is (are) FOXG1 syndrome ? | FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of b... | FOXG1 syndrome |
How many people are affected by FOXG1 syndrome ? | FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature. | FOXG1 syndrome |
What are the genetic changes related to FOXG1 syndrome ? | As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telence... | FOXG1 syndrome |
Is FOXG1 syndrome inherited ? | FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. ... | FOXG1 syndrome |
What are the treatments for FOXG1 syndrome ? | These resources address the diagnosis or management of FOXG1 syndrome: - Genetic Testing Registry: Rett syndrome, congenital variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -... | FOXG1 syndrome |
What is (are) pilomatricoma ? | Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pi... | pilomatricoma |
How many people are affected by pilomatricoma ? | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but pilomatricoma probably accounts for less than 1 percent of all benign skin tumors. | pilomatricoma |
What are the genetic changes related to pilomatricoma ? | Mutations in the CTNNB1 gene are found in almost all cases of isolated pilomatricoma. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene provides instructions for making a protein called beta-ca... | pilomatricoma |
Is pilomatricoma inherited ? | Most people with isolated pilomatricoma do not have any other affected family members. However, rare families with multiple affected members have been reported. In these cases, the inheritance pattern of the condition (if any) is unknown. | pilomatricoma |
What are the treatments for pilomatricoma ? | These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling ... | pilomatricoma |
What is (are) spastic paraplegia type 4 ? | Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and ... | spastic paraplegia type 4 |
How many people are affected by spastic paraplegia type 4 ? | The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide. | spastic paraplegia type 4 |
What are the genetic changes related to spastic paraplegia type 4 ? | Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers ... | spastic paraplegia type 4 |
Is spastic paraplegia type 4 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 most cases, an affected person inherits the mutation from one affected parent. The remaining cases may result from new mutations in the gene. These cases occur in ... | spastic paraplegia type 4 |
What are the treatments for spastic paraplegia type 4 ? | These resources address the diagnosis or management of spastic paraplegia type 4: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 4 - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments... | spastic paraplegia type 4 |
What is (are) hepatic veno-occlusive disease with immunodeficiency ? | Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this... | hepatic veno-occlusive disease with immunodeficiency |
How many people are affected by hepatic veno-occlusive disease with immunodeficiency ? | VODI appears to be a rare disorder; approximately 20 affected families have been reported worldwide. Most people diagnosed with the condition have been of Lebanese ancestry. However, the disorder has also been identified in several individuals with other backgrounds in the United States and Italy. | hepatic veno-occlusive disease with immunodeficiency |
What are the genetic changes related to hepatic veno-occlusive disease with immunodeficiency ? | VODI results from mutations in the SP110 gene. This gene provides instructions for making a protein called SP110 nuclear body protein, which is involved in the normal function of the immune system. This protein likely helps regulate the activity of genes needed for the body's immune response to foreign invaders (such a... | hepatic veno-occlusive disease with immunodeficiency |
Is hepatic veno-occlusive disease with immunodeficiency 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. | hepatic veno-occlusive disease with immunodeficiency |
What are the treatments for hepatic veno-occlusive disease with immunodeficiency ? | These resources address the diagnosis or management of VODI: - Gene Review: Gene Review: Hepatic Veno-Occlusive Disease with Immunodeficiency - Genetic Testing Registry: Hepatic venoocclusive disease with immunodeficiency These resources from MedlinePlus offer information about the diagnosis and management of vario... | hepatic veno-occlusive disease with immunodeficiency |
What is (are) idiopathic pulmonary fibrosis ? | Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This condition causes scar tissue (fibrosis) to build up in the lungs, which makes the lungs unable to transport oxygen into the bloodstream effectively. The disease usually affects people between the ages of 50 and 70. The most common signs and sym... | idiopathic pulmonary fibrosis |
How many people are affected by idiopathic pulmonary fibrosis ? | Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per 100,000 people worldwide. About 100,000 people are affected in the United States, and 30,000 to 40,000 new cases are diagnosed each year. Familial pulmonary fibrosis is less common than the sporadic form of the disease. Only a small percentage o... | idiopathic pulmonary fibrosis |
What are the genetic changes related to idiopathic pulmonary fibrosis ? | The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the di... | idiopathic pulmonary fibrosis |
Is idiopathic pulmonary fibrosis inherited ? | Most cases of idiopathic pulmonary fibrosis are sporadic; they occur in people with no history of the disorder in their family. Familial pulmonary fibrosis appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause ... | idiopathic pulmonary fibrosis |
What are the treatments for idiopathic pulmonary fibrosis ? | These resources address the diagnosis or management of idiopathic pulmonary fibrosis: - Gene Review: Gene Review: Pulmonary Fibrosis, Familial - Genetic Testing Registry: Idiopathic fibrosing alveolitis, chronic form These resources from MedlinePlus offer information about the diagnosis and management of various he... | idiopathic pulmonary fibrosis |
What is (are) thanatophoric dysplasia ? | Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. R... | thanatophoric dysplasia |
How many people are affected by thanatophoric dysplasia ? | This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II. | thanatophoric dysplasia |
What are the genetic changes related to thanatophoric dysplasia ? | Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly ... | thanatophoric dysplasia |
Is thanatophoric dysplasia inherited ? | Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their fam... | thanatophoric dysplasia |
What are the treatments for thanatophoric dysplasia ? | These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 These resources from MedlinePlus offer information about the dia... | thanatophoric dysplasia |
What is (are) aminoacylase 1 deficiency ? | Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement proble... | aminoacylase 1 deficiency |
How many people are affected by aminoacylase 1 deficiency ? | The prevalence of aminoacylase 1 deficiency is unknown. | aminoacylase 1 deficiency |
What are the genetic changes related to aminoacylase 1 deficiency ? | Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of proteins when they are no longer needed. Many proteins in the body have an acetyl group attached to one end. This modification, called N-ac... | aminoacylase 1 deficiency |
Is aminoacylase 1 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. | aminoacylase 1 deficiency |
What are the treatments for aminoacylase 1 deficiency ? | These resources address the diagnosis or management of aminoacylase 1 deficiency: - Genetic Testing Registry: Aminoacylase 1 deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation... | aminoacylase 1 deficiency |
What is (are) multiple endocrine neoplasia ? | Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves... | multiple endocrine neoplasia |
How many people are affected by multiple endocrine neoplasia ? | Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. Type 2B is relatively uncommon, accounting for about 5 percent of all cases of type 2. The p... | multiple endocrine neoplasia |
What are the genetic changes related to multiple endocrine neoplasia ? | Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia. Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividin... | multiple endocrine neoplasia |
Is multiple endocrine neoplasia inherited ? | Most cases of multiple endocrine neoplasia type 1 are considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the MEN1 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new mu... | multiple endocrine neoplasia |
What are the treatments for multiple endocrine neoplasia ? | These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medullary thyroid carcinoma - Genetic Testing Registry: Multiple e... | multiple endocrine neoplasia |
What is (are) KBG syndrome ? | KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic... | KBG syndrome |
How many people are affected by KBG syndrome ? | KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders. | KBG syndrome |
What are the genetic changes related to KBG syndrome ? | KBG syndrome is caused by mutations in the ANKRD11 gene. The protein produced from this gene enables other proteins to interact with each other and helps control gene activity. The ANKRD11 protein is found in nerve cells (neurons) in the brain. It plays a role in the proper development of the brain and may be involved ... | KBG syndrome |
Is KBG 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. 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... | KBG syndrome |
What are the treatments for KBG syndrome ? | These resources address the diagnosis or management of KBG syndrome: - Genetic Testing Registry: KBG syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -... | KBG syndrome |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.