qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
|---|---|---|
genetic changes | What are the genetic changes related to phenylketonuria ? | Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from t... |
inheritance | Is phenylketonuria inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for phenylketonuria ? | These resources address the diagnosis or management of phenylketonuria: - Baby's First Test - Gene Review: Gene Review: Phenylalanine Hydroxylase Deficiency - Genetic Testing Registry: Phenylketonuria - MedlinePlus Encyclopedia: Phenylketonuria - MedlinePlus Encyclopedia: Serum Phenylalanine Screening These reso... |
information | What is (are) multiple sclerosis ? | Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is con... |
frequency | How many people are affected by multiple sclerosis ? | An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affect... |
genetic changes | What are the genetic changes related to multiple sclerosis ? | Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosi... |
inheritance | Is multiple sclerosis inherited ? | The inheritance pattern of multiple sclerosis is unknown, although the condition does appear to be passed down through generations in families. The risk of developing multiple sclerosis is higher for siblings or children of a person with the condition than for the general population. |
treatment | What are the treatments for multiple sclerosis ? | These resources address the diagnosis or management of multiple sclerosis: - Gene Review: Gene Review: Multiple Sclerosis Overview - Multiple Sclerosis Association of America: Treatments for MS - Multiple Sclerosis International Federation: About MS--Diagnosis - National Multiple Sclerosis Society: Diagnosing Tools... |
information | What is (are) retinitis pigmentosa ? | Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Th... |
frequency | How many people are affected by retinitis pigmentosa ? | Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe. |
genetic changes | What are the genetic changes related to retinitis pigmentosa ? | Mutations in more than 60 genes are known to cause nonsyndromic retinitis pigmentosa. More than 20 of these genes are associated with the autosomal dominant form of the disorder. Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases.... |
inheritance | Is retinitis pigmentosa inherited ? | Retinitis pigmentosa often has an autosomal dominant inheritance pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Most people with autosomal dominant retinitis pigmentosa have an affected parent and other family members with the disorder. Retinitis pigmentosa can also ... |
treatment | What are the treatments for retinitis pigmentosa ? | These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Retinitis pigmentosa - R... |
information | What is (are) Stormorken syndrome ? | Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal ... |
frequency | How many people are affected by Stormorken syndrome ? | Stormorken syndrome is a rare disorder. Approximately a dozen cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to Stormorken syndrome ? | Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through specia... |
inheritance | Is Stormorken 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 history... |
treatment | What are the treatments for Stormorken syndrome ? | These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic ... |
information | What is (are) Down syndrome ? | Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. People with Down syndrome may hav... |
frequency | How many people are affected by Down syndrome ? | Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as... |
genetic changes | What are the genetic changes related to Down syndrome ? | Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs ... |
inheritance | Is Down syndrome inherited ? | Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called... |
treatment | What are the treatments for Down syndrome ? | These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - National Down Syndrome Congress: Speech and Language - Nation... |
information | What is (are) desmosterolosis ? | Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected individu... |
frequency | How many people are affected by desmosterolosis ? | The prevalence of desmosterolosis is unknown; at least 10 affected individuals have been described in the scientific literature. |
genetic changes | What are the genetic changes related to desmosterolosis ? | Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (partic... |
inheritance | Is desmosterolosis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for desmosterolosis ? | These resources address the diagnosis or management of desmosterolosis: - Genetic Testing Registry: Desmosterolosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... |
information | What is (are) Kufs disease ? | Kufs disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of Kufs disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. Two types of Kufs disease ha... |
frequency | How many people are affected by Kufs disease ? | Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals have the condition. Kufs disease is thought to represent 1.3 to 10 percent of all NCLs. |
genetic changes | What are the genetic changes related to Kufs disease ? | Mutations in the CLN6 or PPT1 gene cause Kufs disease type A, and mutations in the DNAJC5 or CTSF gene cause Kufs disease type B. Most of the proteins or enzymes produced from these genes are involved in breaking down proteins or clearing unneeded materials from cells. The CLN6 gene provides instructions for making a ... |
inheritance | Is Kufs disease inherited ? | Kufs disease type A, caused by mutations in the CLN6 or PPT1 gene, has an autosomal recessive pattern of inheritance. 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... |
treatment | What are the treatments for Kufs disease ? | These resources address the diagnosis or management of Kufs disease: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Adult neuronal ceroid lipofuscinosis - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 4B autosomal dominant These resources from MedlinePlus offer in... |
information | What is (are) COG5-congenital disorder of glycosylation ? | COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with COG... |
frequency | How many people are affected by COG5-congenital disorder of glycosylation ? | COG5-CDG is a very rare disorder; fewer than 10 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to COG5-congenital disorder of glycosylation ? | COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that oc... |
inheritance | Is COG5-congenital disorder of glycosylation inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for COG5-congenital disorder of glycosylation ? | These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from MedlinePlus offer information about the diagnosis and management ... |
information | What is (are) nephronophthisis ? | Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected in... |
frequency | How many people are affected by nephronophthisis ? | Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in 922,000 in the United States. Its incidence in other populations is unknown. Nephronophthisis is the most common genetic cause of ESRD in children and young adults. |
genetic changes | What are the genetic changes related to nephronophthisis ? | Nephronophthisis has several genetic causes, which are used to split the condition into distinct types. Nephronophthisis type 1, which is the most common type of the disorder and one cause of juvenile nephronophthisis, results from changes affecting the NPHP1 gene. The proteins produced from NPHP1 and the other genes i... |
inheritance | Is nephronophthisis inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for nephronophthisis ? | These resources address the diagnosis or management of nephronophthisis: - Genetic Testing Registry: Adolescent nephronophthisis - Genetic Testing Registry: Infantile nephronophthisis - Genetic Testing Registry: Nephronophthisis - Genetic Testing Registry: Nephronophthisis 1 - Genetic Testing Registry: Nephronopht... |
information | What is (are) familial adenomatous polyposis ? | Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the co... |
frequency | How many people are affected by familial adenomatous polyposis ? | The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. |
genetic changes | What are the genetic changes related to familial adenomatous polyposis ? | Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most peop... |
inheritance | Is familial adenomatous polyposis inherited ? | Familial adenomatous polyposis can have different inheritance patterns. When familial adenomatous polyposis results from mutations in the APC gene, it 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 per... |
treatment | What are the treatments for familial adenomatous polyposis ? | These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Con... |
information | What is (are) carnitine palmitoyltransferase II deficiency ? | Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.... |
frequency | How many people are affected by carnitine palmitoyltransferase II deficiency ? | CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases. |
genetic changes | What are the genetic changes related to carnitine palmitoyltransferase II deficiency ? | Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation take... |
inheritance | Is carnitine palmitoyltransferase II deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for carnitine palmitoyltransferase II deficiency ? | These resources address the diagnosis or management of CPT II deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency - Genetic Test... |
information | What is (are) X-linked thrombocytopenia ? | X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition... |
frequency | How many people are affected by X-linked thrombocytopenia ? | The estimated incidence of X-linked thrombocytopenia is between 1 and 10 per million males worldwide; this condition is rarer among females. |
genetic changes | What are the genetic changes related to X-linked thrombocytopenia ? | Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's s... |
inheritance | Is X-linked thrombocytopenia inherited ? | This condition is inherited in an X-linked 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 may or may not cause the disorder. In males (who have... |
treatment | What are the treatments for X-linked thrombocytopenia ? | These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? These resources from MedlinePlus offer information a... |
information | What is (are) hereditary cerebral amyloid angiopathy ? | Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the se... |
frequency | How many people are affected by hereditary cerebral amyloid angiopathy ? | The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 affected individuals reported in the scientific literature. |
genetic changes | What are the genetic changes related to hereditary cerebral amyloid angiopathy ? | Mutations in the APP gene are the most common cause of hereditary cerebral amyloid angiopathy. APP gene mutations cause the Dutch, Italian, Arctic, Iowa, Flemish, and Piedmont types of this condition. Mutations in the CST3 gene cause the Icelandic type. Familial British and Danish dementia are caused by mutations in th... |
inheritance | Is hereditary cerebral amyloid angiopathy inherited ? | Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people w... |
treatment | What are the treatments for hereditary cerebral amyloid angiopathy ? | These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cereb... |
information | What is (are) glycogen storage disease type III ? | Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSD... |
frequency | How many people are affected by glycogen storage disease type III ? | The incidence of GSDIII in the United States is 1 in 100,000 individuals. This condition is seen more frequently in people of North African Jewish ancestry; in this population, 1 in 5,400 individuals are estimated to be affected. GSDIIIa is the most common form of GSDIII, accounting for about 85 percent of all cases. ... |
genetic changes | What are the genetic changes related to glycogen storage disease type III ? | Mutations in the AGL gene cause GSDIII. The AGL gene provides instructions for making the glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, which is a major source of stored energy in the body. Between meals the body breaks down stores of energy, such as glycogen, to use for fuel. Most... |
inheritance | Is glycogen storage disease type III inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for glycogen storage disease type III ? | These resources address the diagnosis or management of glycogen storage disease type III: - Gene Review: Gene Review: Glycogen Storage Disease Type III - Genetic Testing Registry: Glycogen storage disease type III These resources from MedlinePlus offer information about the diagnosis and management of various healt... |
information | What is (are) van der Woude syndrome ? | Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to th... |
frequency | How many people are affected by van der Woude syndrome ? | Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases. |
genetic changes | What are the genetic changes related to van der Woude syndrome ? | Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.... |
inheritance | Is van der Woude 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 most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms... |
treatment | What are the treatments for van der Woude syndrome ? | These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... |
information | What is (are) benign familial neonatal seizures ? | Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with th... |
frequency | How many people are affected by benign familial neonatal seizures ? | Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to benign familial neonatal seizures ? | Mutations in two genes, KCNQ2 and KCNQ3, have been found to cause BFNS. Mutations in the KCNQ2 gene are a much more common cause of the condition than mutations in the KCNQ3 gene. The KCNQ2 and KCNQ3 genes provide instructions for making proteins that interact to form potassium channels. Potassium channels, which tran... |
inheritance | Is benign familial neonatal seizures 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. A few cases result from new mutations in the KCNQ2 gene. These cases occur in people ... |
treatment | What are the treatments for benign familial neonatal seizures ? | These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign f... |
information | What is (are) Emery-Dreifuss muscular dystrophy ? | Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early ch... |
frequency | How many people are affected by Emery-Dreifuss muscular dystrophy ? | X-linked Emery-Dreifuss muscular dystrophy is the most common form of this condition, affecting an estimated 1 in 100,000 people. The autosomal recessive type of this disorder appears to be very rare; only a few cases have been reported worldwide. The incidence of the autosomal dominant form is unknown. |
genetic changes | What are the genetic changes related to Emery-Dreifuss muscular dystrophy ? | Mutations in the EMD and LMNA genes cause Emery-Dreifuss muscular dystrophy. The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and resea... |
inheritance | Is Emery-Dreifuss muscular dystrophy inherited ? | Emery-Dreifuss muscular dystrophy can have several different patterns of inheritance. When this condition is caused by mutations in the EMD gene, it is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the t... |
treatment | What are the treatments for Emery-Dreifuss muscular dystrophy ? | These resources address the diagnosis or management of Emery-Dreifuss muscular dystrophy: - Gene Review: Gene Review: Emery-Dreifuss Muscular Dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy - Genetic Testing Registry: Emery-Dreifuss muscular dystrophy 1, X-linked - MedlinePlus Encyclopedia: ... |
information | What is (are) 16p11.2 deletion syndrome ? | 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features... |
frequency | How many people are affected by 16p11.2 deletion syndrome ? | Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. Other individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected. For this reason, the prevalence of this deletion i... |
genetic changes | What are the genetic changes related to 16p11.2 deletion syndrome ? | People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many ca... |
inheritance | Is 16p11.2 deletion syndrome inherited ? | 16p11.2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy of chromosome 16 in each cell is sufficient to cause the condition. However, most cases of 16p11.2 deletion syndrome are not inherited. The deletion occurs most often as a random event during the for... |
treatment | What are the treatments for 16p11.2 deletion syndrome ? | These resources address the diagnosis or management of 16p11.2 deletion syndrome: - Gene Review: Gene Review: 16p11.2 Recurrent Microdeletion - Genetic Testing Registry: 16p11.2 deletion syndrome - Genetic Testing Registry: Autism, susceptibility to, 14a These resources from MedlinePlus offer information about the... |
information | What is (are) early-onset glaucoma ? | Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photo... |
frequency | How many people are affected by early-onset glaucoma ? | Primary congenital glaucoma affects approximately 1 in 10,000 people. Its frequency is higher in the Middle East. Juvenile open-angle glaucoma affects about 1 in 50,000 people. Primary open-angle glaucoma is much more common after the age of 40, affecting about 1 percent of the population worldwide. |
genetic changes | What are the genetic changes related to early-onset glaucoma ? | Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain struc... |
inheritance | Is early-onset glaucoma inherited ? | Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually 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 condition each carry one copy of the mut... |
treatment | What are the treatments for early-onset glaucoma ? | These resources address the diagnosis or management of early-onset glaucoma: - Gene Review: Gene Review: Primary Congenital Glaucoma - Genetic Testing Registry: Glaucoma, congenital - Genetic Testing Registry: Primary open angle glaucoma juvenile onset 1 - MedlinePlus Encyclopedia: Glaucoma These resources from M... |
information | What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglyc... |
frequency | How many people are affected by very long-chain acyl-CoA dehydrogenase deficiency ? | VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. |
genetic changes | What are the genetic changes related to very long-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADVL gene cause VLCAD deficiency. This gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called very long-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty... |
inheritance | Is very long-chain acyl-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. |
treatment | What are the treatments for very long-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of VLCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Very long chain acyl-CoA dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These ... |
information | What is (are) familial HDL deficiency ? | Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redist... |
frequency | How many people are affected by familial HDL deficiency ? | Familial HDL deficiency is a rare disorder, although the prevalence is unknown. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.