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What is (are) L1 syndrome ? | L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lowe... | L1 syndrome |
How many people are affected by L1 syndrome ? | L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition. | L1 syndrome |
What are the genetic changes related to L1 syndrome ? | L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheat... | L1 syndrome |
Is L1 syndrome 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... | L1 syndrome |
What are the treatments for L1 syndrome ? | These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registr... | L1 syndrome |
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... | acute promyelocytic leukemia |
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. | acute promyelocytic leukemia |
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 ... | acute promyelocytic leukemia |
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. | acute promyelocytic leukemia |
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... | acute promyelocytic leukemia |
What is (are) renal hypouricemia ? | Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in the blood. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. Howe... | renal hypouricemia |
How many people are affected by renal hypouricemia ? | The prevalence of renal hypouricemia is unknown; at least 150 affected individuals have been described in the scientific literature. This condition is thought to be most prevalent in Asian countries such as Japan and South Korea, although affected individuals have been found in Europe. Renal hypouricemia is likely unde... | renal hypouricemia |
What are the genetic changes related to renal hypouricemia ? | Mutations in the SLC22A12 or SLC2A9 gene cause renal hypouricemia. These genes provide instructions for making proteins called urate transporter 1 (URAT1) and glucose transporter 9 (GLUT9), respectively. These proteins are found in the kidneys, specifically in structures called proximal tubules. These structures help t... | renal hypouricemia |
Is renal hypouricemia inherited ? | This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the ... | renal hypouricemia |
What are the treatments for renal hypouricemia ? | These resources address the diagnosis or management of renal hypouricemia: - Genetic Testing Registry: Familial renal hypouricemia - Genetic Testing Registry: Renal hypouricemia 2 - KidsHealth from Nemours: Blood Test: Uric Acid - MedlinePlus Encyclopedia: Uric Acid--Blood These resources from MedlinePlus offer i... | renal hypouricemia |
What is (are) GM1 gangliosidosis ? | GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap s... | GM1 gangliosidosis |
How many people are affected by GM1 gangliosidosis ? | GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent. | GM1 gangliosidosis |
What are the genetic changes related to GM1 gangliosidosis ? | Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of mole... | GM1 gangliosidosis |
Is GM1 gangliosidosis 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. | GM1 gangliosidosis |
What are the treatments for GM1 gangliosidosis ? | These resources address the diagnosis or management of GM1 gangliosidosis: - Genetic Testing Registry: Gangliosidosis GM1 type 3 - Genetic Testing Registry: Gangliosidosis generalized GM1 type 1 - Genetic Testing Registry: Infantile GM1 gangliosidosis - Genetic Testing Registry: Juvenile GM>1< gangliosidosis Thes... | GM1 gangliosidosis |
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... | giant axonal neuropathy |
How many people are affected by giant axonal neuropathy ? | Giant axonal neuropathy is a very rare disorder; the incidence is unknown. | giant axonal neuropathy |
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... | giant axonal neuropathy |
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. | giant axonal neuropathy |
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... | giant axonal neuropathy |
What is (are) Waldenstrm macroglobulinemia ? | Waldenstrm macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cell... | Waldenstrm macroglobulinemia |
How many people are affected by Waldenstrm macroglobulinemia ? | Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men tha... | Waldenstrm macroglobulinemia |
What are the genetic changes related to Waldenstrm macroglobulinemia ? | Waldenstrm macroglobulinemia is thought to result from a combination of genetic changes. The most common known genetic change associated with this condition is a mutation in the MYD88 gene, which is found in more than 90 percent of affected individuals. Another gene commonly associated with Waldenstrm macroglobulinemia... | Waldenstrm macroglobulinemia |
Is Waldenstrm macroglobulinemia inherited ? | Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited. Some families seem to have a predisposition to the cond... | Waldenstrm macroglobulinemia |
What are the treatments for Waldenstrm macroglobulinemia ? | These resources address the diagnosis or management of Waldenstrm macroglobulinemia: - American Cancer Society: How is Waldenstrom Macroglobulinemia Diagnosed? - American Cancer Society: How is Waldenstrom Macroglobulinemia Treated? - Genetic Testing Registry: Waldenstrom macroglobulinemia - MD Anderson Cancer Cent... | Waldenstrm macroglobulinemia |
What is (are) Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. Th... | Birt-Hogg-Dub syndrome |
How many people are affected by Birt-Hogg-Dub syndrome ? | Birt-Hogg-Dub syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families. | Birt-Hogg-Dub syndrome |
What are the genetic changes related to Birt-Hogg-Dub syndrome ? | Mutations in the FLCN gene cause Birt-Hogg-Dub syndrome. This gene provides instructions for making a protein called folliculin. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors prevent cells from growing and dividing too rapidly or in an u... | Birt-Hogg-Dub syndrome |
Is Birt-Hogg-Dub syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered FLCN gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Less commonly, the condition results from a new mutation in the gene and occurs ... | Birt-Hogg-Dub syndrome |
What are the treatments for Birt-Hogg-Dub syndrome ? | These resources address the diagnosis or management of Birt-Hogg-Dub syndrome: - BHD Foundation: Practical Considerations - Gene Review: Gene Review: Birt-Hogg-Dube Syndrome - Genetic Testing Registry: Multiple fibrofolliculomas - MedlinePlus Encyclopedia: Collapsed Lung These resources from MedlinePlus offer inf... | Birt-Hogg-Dub syndrome |
What is (are) pseudocholinesterase deficiency ? | Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the... | pseudocholinesterase deficiency |
How many people are affected by pseudocholinesterase deficiency ? | Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives. | pseudocholinesterase deficiency |
What are the genetic changes related to pseudocholinesterase deficiency ? | Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of cholin... | pseudocholinesterase deficiency |
Is pseudocholinesterase deficiency inherited ? | When due to genetic causes, this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive disorder have one copy of the altered gene in each cell and are called carriers. They can pass ... | pseudocholinesterase deficiency |
What are the treatments for pseudocholinesterase deficiency ? | These resources address the diagnosis or management of pseudocholinesterase deficiency: - MedlinePlus Encyclopedia: Cholinesterase (blood test) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi... | pseudocholinesterase deficiency |
What is (are) warfarin sensitivity ? | Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart v... | warfarin sensitivity |
How many people are affected by warfarin sensitivity ? | The prevalence of warfarin sensitivity is unknown. However, it appears to be more common in people who are older, those with lower body weights, and individuals of Asian ancestry. Of the approximately 2 million people in the U.S. who are prescribed warfarin annually, 35,000 to 45,000 individuals go to hospital emergen... | warfarin sensitivity |
What are the genetic changes related to warfarin sensitivity ? | Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. Certain common changes (polymorphisms) in the CYP2C9 and VKORC1 genes account for 30 percent of the variation in warfarin metabolism due to genetic factors. Polymorphisms in other genes, some of which have not been ... | warfarin sensitivity |
Is warfarin sensitivity inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin sensitivity. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more ... | warfarin sensitivity |
What are the treatments for warfarin sensitivity ? | These resources address the diagnosis or management of warfarin sensitivity: - Food and Drug Administration Medication Guide - MedlinePlus Drugs & Supplements: Warfarin - My46 Trait Profile - PharmGKB - WarfarinDosing.org These resources from MedlinePlus offer information about the diagnosis and management of va... | warfarin sensitivity |
What is (are) ankylosing spondylitis ? | Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spi... | ankylosing spondylitis |
How many people are affected by ankylosing spondylitis ? | Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 to 13 per 1,000 people. | ankylosing spondylitis |
What are the genetic changes related to ankylosing spondylitis ? | Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder. The HLA-B gene provides instructions for making a protein that plays an... | ankylosing spondylitis |
Is ankylosing spondylitis inherited ? | Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not me... | ankylosing spondylitis |
What are the treatments for ankylosing spondylitis ? | These resources address the diagnosis or management of ankylosing spondylitis: - Genetic Testing Registry: Ankylosing spondylitis - MedlinePlus Encyclopedia: Ankylosing Spondylitis - MedlinePlus Encyclopedia: HLA-B27 Antigen These resources from MedlinePlus offer information about the diagnosis and management of v... | ankylosing spondylitis |
What is (are) thiamine-responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic... | thiamine-responsive megaloblastic anemia syndrome |
How many people are affected by thiamine-responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome has been reported in approximately 30 families worldwide. Its prevalence is unknown. | thiamine-responsive megaloblastic anemia syndrome |
What are the genetic changes related to thiamine-responsive megaloblastic anemia syndrome ? | Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions. Most mutations in the ... | thiamine-responsive megaloblastic anemia syndrome |
Is thiamine-responsive megaloblastic anemia 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. | thiamine-responsive megaloblastic anemia syndrome |
What are the treatments for thiamine-responsive megaloblastic anemia syndrome ? | These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlu... | thiamine-responsive megaloblastic anemia syndrome |
What is (are) X-linked myotubular myopathy ? | X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. The muscle problems in X-linked myo... | X-linked myotubular myopathy |
How many people are affected by X-linked myotubular myopathy ? | The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide. | X-linked myotubular myopathy |
What are the genetic changes related to X-linked myotubular myopathy ? | Mutations in the MTM1 gene cause X-linked myotubular myopathy. The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. MTM1 gene mutations probably disrupt myotubularin's role in muscle cell development ... | X-linked myotubular myopathy |
Is X-linked myotubular myopathy inherited ? | X-linked myotubular myopathy 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 femal... | X-linked myotubular myopathy |
What are the treatments for X-linked myotubular myopathy ? | These resources address the diagnosis or management of X-linked myotubular myopathy: - Gene Review: Gene Review: X-Linked Centronuclear Myopathy - Genetic Testing Registry: Severe X-linked myotubular myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health con... | X-linked myotubular myopathy |
What is (are) Greig cephalopolysyndactyly syndrome ? | Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe ... | Greig cephalopolysyndactyly syndrome |
How many people are affected by Greig cephalopolysyndactyly syndrome ? | This condition is very rare; its prevalence is unknown. | Greig cephalopolysyndactyly syndrome |
What are the genetic changes related to Greig cephalopolysyndactyly syndrome ? | Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development,... | Greig cephalopolysyndactyly syndrome |
Is Greig cephalopolysyndactyly syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one altered or missing copy of the GLI3 gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no his... | Greig cephalopolysyndactyly syndrome |
What are the treatments for Greig cephalopolysyndactyly syndrome ? | These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome: - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome - MedlinePlus Encyclopedia: Polydactyly - MedlinePlus Encyclopedia: Syndactyly (image) Thes... | Greig cephalopolysyndactyly syndrome |
What is (are) galactosemia ? | Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an ... | galactosemia |
How many people are affected by galactosemia ? | Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare. | galactosemia |
What are the genetic changes related to galactosemia ? | Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. ... | galactosemia |
Is galactosemia 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. | galactosemia |
What are the treatments for galactosemia ? | These resources address the diagnosis or management of galactosemia: - Baby's First Test: Classic Galactosemia - Baby's First Test: Galactoepimerase Deficiency - Baby's First Test: Galactokinase Deficiency - Gene Review: Gene Review: Classic Galactosemia and Clinical Variant Galactosemia - Gene Review: Gene Review... | galactosemia |
What is (are) microvillus inclusion disease ? | Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption o... | microvillus inclusion disease |
How many people are affected by microvillus inclusion disease ? | The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide. | microvillus inclusion disease |
What are the genetic changes related to microvillus inclusion disease ? | Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the int... | microvillus inclusion disease |
Is microvillus inclusion 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. | microvillus inclusion disease |
What are the treatments for microvillus inclusion disease ? | These resources address the diagnosis or management of microvillus inclusion disease: - Children's Hospital of Pittsburgh - Genetic Testing Registry: Congenital microvillous atrophy - Great Ormond Street Hospital for Children (UK): Intestinal Assessment - International Microvillus Inclusion Disease Patient Registry... | microvillus inclusion disease |
What is (are) Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk... | Hermansky-Pudlak syndrome |
How many people are affected by Hermansky-Pudlak syndrome ? | Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puert... | Hermansky-Pudlak syndrome |
What are the genetic changes related to Hermansky-Pudlak syndrome ? | At least nine genes are associated with Hermansky-Pudlak syndrome. These genes provide instructions for making proteins that are used to make four distinct protein complexes. These protein complexes play a role in the formation and movement (trafficking) of a group of cell structures called lysosome-related organelles ... | Hermansky-Pudlak syndrome |
Is Hermansky-Pudlak 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. | Hermansky-Pudlak syndrome |
What are the treatments for Hermansky-Pudlak syndrome ? | These resources address the diagnosis or management of Hermansky-Pudlak syndrome: - Gene Review: Gene Review: Hermansky-Pudlak Syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome - Genetic Testing Registry: Hermansky-Pudlak syndrome 1 - MedlinePlus Encyclopedia: Albinism - MedlinePlus Encyclopedia: Coli... | Hermansky-Pudlak syndrome |
What is (are) incontinentia pigmenti ? | Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering ras... | incontinentia pigmenti |
How many people are affected by incontinentia pigmenti ? | Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified. | incontinentia pigmenti |
What are the genetic changes related to incontinentia pigmenti ? | Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG 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 helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. Abo... | incontinentia pigmenti |
Is incontinentia pigmenti 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. Some ce... | incontinentia pigmenti |
What are the treatments for incontinentia pigmenti ? | These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome These resources from MedlinePlus offer information about the diag... | incontinentia pigmenti |
What is (are) Cornelia de Lange syndrome ? | Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellec... | Cornelia de Lange syndrome |
How many people are affected by Cornelia de Lange syndrome ? | Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome. | Cornelia de Lange syndrome |
What are the genetic changes related to Cornelia de Lange syndrome ? | Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3. Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common. The proteins produced from all five genes contribut... | Cornelia de Lange syndrome |
Is Cornelia de Lange syndrome inherited ? | When Cornelia de Lange syndrome is caused by mutations in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new gene ... | Cornelia de Lange syndrome |
What are the treatments for Cornelia de Lange syndrome ? | These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information abo... | Cornelia de Lange syndrome |
What is (are) autoimmune polyglandular syndrome, type 1 ? | Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. In most cases, the signs and symptoms of autoimmune... | autoimmune polyglandular syndrome, type 1 |
How many people are affected by autoimmune polyglandular syndrome, type 1 ? | Autoimmune polyglandular syndrome, type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns. | autoimmune polyglandular syndrome, type 1 |
What are the genetic changes related to autoimmune polyglandular syndrome, type 1 ? | Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body disting... | autoimmune polyglandular syndrome, type 1 |
Is autoimmune polyglandular syndrome, type 1 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. | autoimmune polyglandular syndrome, type 1 |
What are the treatments for autoimmune polyglandular syndrome, type 1 ? | These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1: - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia - Genetic Testing Regi... | autoimmune polyglandular syndrome, type 1 |
What is (are) progressive familial intrahepatic cholestasis ? | Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Sig... | progressive familial intrahepatic cholestasis |
How many people are affected by progressive familial intrahepatic cholestasis ? | PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC type 1 is much more common in the Inuit population of Greenland and the Old Order Amish population of the United States. | progressive familial intrahepatic cholestasis |
What are the genetic changes related to progressive familial intrahepatic cholestasis ? | Mutations in the ATP8B1, ABCB11, and ABCB4 genes can cause PFIC. ATP8B1 gene mutations cause PFIC1. The ATP8B1 gene provides instructions for making a protein that helps to maintain an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secre... | progressive familial intrahepatic cholestasis |
Is progressive familial intrahepatic cholestasis 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. | progressive familial intrahepatic cholestasis |
What are the treatments for progressive familial intrahepatic cholestasis ? | These resources address the diagnosis or management of progressive familial intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 2 - Genetic Testing Registry: Progressive familial intrahepatic cholestasis 3 - Genetic Testin... | progressive familial intrahepatic cholestasis |
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