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What is (are) deoxyguanosine kinase deficiency ? | Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver disease and neurological problems. Researchers have described two forms of this disorder. The majority of affected individuals have the more severe form, which is called hepatocerebral because of the serious problems it causes in the liver a... | deoxyguanosine kinase deficiency |
How many people are affected by deoxyguanosine kinase deficiency ? | The prevalence of deoxyguanosine kinase deficiency is unknown. Approximately 100 affected individuals have been identified. | deoxyguanosine kinase deficiency |
What are the genetic changes related to deoxyguanosine kinase deficiency ? | The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, w... | deoxyguanosine kinase deficiency |
Is deoxyguanosine kinase deficiency inherited ? | Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | deoxyguanosine kinase deficiency |
What are the treatments for deoxyguanosine kinase deficiency ? | These resources address the diagnosis or management of deoxyguanosine kinase deficiency: - Gene Review: Gene Review: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Genetic Testing Registry: Mitochondrial DNA-depletion syndrome 3, hepatocerebral - MedlinePlus Encyclopedia: Hypotonia These... | deoxyguanosine kinase deficiency |
What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells r... | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
How many people are affected by X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? | The prevalence of XMEN is unknown. Only a few affected individuals have been described in the medical literature. | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
What are the genetic changes related to X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? | XMEN is caused by mutations in the MAGT1 gene. This gene provides instructions for making a protein called a magnesium transporter, which moves charged atoms (ions) of magnesium (Mg2+) into certain T cells. Specifically, the magnesium transporter produced from the MAGT1 gene is active in CD8+ T cells, which are especia... | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
Is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
What are the treatments for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ? | These resources address the diagnosis or management of XMEN: - MedlinePlus Encyclopedia: Epstein-Barr Virus Test - MedlinePlus Encyclopedia: T Cell Count These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery... | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
What is (are) xeroderma pigmentosum ? | Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The sig... | xeroderma pigmentosum |
How many people are affected by xeroderma pigmentosum ? | Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East. | xeroderma pigmentosum |
What are the genetic changes related to xeroderma pigmentosum ? | Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigment... | xeroderma pigmentosum |
Is xeroderma pigmentosum 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. | xeroderma pigmentosum |
What are the treatments for xeroderma pigmentosum ? | These resources address the diagnosis or management of xeroderma pigmentosum: - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed? - American Cancer Society: How is Melanoma Diagnosed? - Gene Review: Gene Review: Xeroderma Pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum -... | xeroderma pigmentosum |
What is (are) Baller-Gerold syndrome ? | Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the hea... | Baller-Gerold syndrome |
How many people are affected by Baller-Gerold syndrome ? | The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature. | Baller-Gerold syndrome |
What are the genetic changes related to Baller-Gerold syndrome ? | Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary f... | Baller-Gerold syndrome |
Is Baller-Gerold 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. | Baller-Gerold syndrome |
What are the treatments for Baller-Gerold syndrome ? | These resources address the diagnosis or management of Baller-Gerold syndrome: - Gene Review: Gene Review: Baller-Gerold Syndrome - Genetic Testing Registry: Baller-Gerold syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) These resources from MedlinePlus ... | Baller-Gerold syndrome |
What is (are) Koolen-de Vries syndrome ? | Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurren... | Koolen-de Vries syndrome |
How many people are affected by Koolen-de Vries syndrome ? | The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. | Koolen-de Vries syndrome |
What are the genetic changes related to Koolen-de Vries syndrome ? | Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17. This type of genetic abnormality is called a microdeletion. ... | Koolen-de Vries syndrome |
Is Koolen-de Vries syndrome inherited ? | Koolen-de Vries syndrome is considered an autosomal dominant condition because a deletion or mutation affecting one copy of the KANSL1 gene in each cell is sufficient to cause the disorder. In most cases, the disorder is not inherited. The genetic change occurs most often as a random event during the formation of repro... | Koolen-de Vries syndrome |
What are the treatments for Koolen-de Vries syndrome ? | These resources address the diagnosis or management of Koolen-de Vries syndrome: - Gene Review: Gene Review: KANSL1-Related Intellectual Disability Syndrome - Genetic Testing Registry: Koolen-de Vries syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health co... | Koolen-de Vries syndrome |
What is (are) sudden infant death with dysgenesis of the testes syndrome ? | Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems. Infants with SIDDT who are genetically male, with one X chromosome ... | sudden infant death with dysgenesis of the testes syndrome |
How many people are affected by sudden infant death with dysgenesis of the testes syndrome ? | SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community. | sudden infant death with dysgenesis of the testes syndrome |
What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ? | A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain... | sudden infant death with dysgenesis of the testes syndrome |
Is sudden infant death with dysgenesis of the testes 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. | sudden infant death with dysgenesis of the testes syndrome |
What are the treatments for sudden infant death with dysgenesis of the testes syndrome ? | These resources address the diagnosis or management of SIDDT: - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditi... | sudden infant death with dysgenesis of the testes syndrome |
What is (are) mitochondrial membrane protein-associated neurodegeneration ? | Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time. MPAN commonly begins with difficulty walking. As the condition progresses, affected individuals usually develop othe... | mitochondrial membrane protein-associated neurodegeneration |
How many people are affected by mitochondrial membrane protein-associated neurodegeneration ? | MPAN is a rare condition that is estimated to affect less than 1 in 1 million people. | mitochondrial membrane protein-associated neurodegeneration |
What are the genetic changes related to mitochondrial membrane protein-associated neurodegeneration ? | Mutations in the C19orf12 gene cause MPAN. The protein produced from this gene is found in the membrane of cellular structures called mitochondria, which are the energy-producing centers of the cell. Although its function is unknown, researchers suggest that the C19orf12 protein plays a role in the maintenance of fat (... | mitochondrial membrane protein-associated neurodegeneration |
Is mitochondrial membrane protein-associated neurodegeneration inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | mitochondrial membrane protein-associated neurodegeneration |
What are the treatments for mitochondrial membrane protein-associated neurodegeneration ? | These resources address the diagnosis or management of mitochondrial membrane protein-associated neurodegeneration: - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview - Genetic Testing R... | mitochondrial membrane protein-associated neurodegeneration |
What is (are) adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated. Adolescent idiopathic sco... | adolescent idiopathic scoliosis |
How many people are affected by adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is the most common spinal abnormality in children. It affects an estimated 2 to 3 percent of children in the U.S. | adolescent idiopathic scoliosis |
What are the genetic changes related to adolescent idiopathic scoliosis ? | The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnorm... | adolescent idiopathic scoliosis |
Is adolescent idiopathic scoliosis inherited ? | Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. However, having a close r... | adolescent idiopathic scoliosis |
What are the treatments for adolescent idiopathic scoliosis ? | These resources address the diagnosis or management of adolescent idiopathic scoliosis: - Genetic Testing Registry: Scoliosis, idiopathic 1 - Genetic Testing Registry: Scoliosis, idiopathic 2 - Genetic Testing Registry: Scoliosis, idiopathic 3 - National Scoliosis Foundation: FAQs - Scoliosis Research Society: Fin... | adolescent idiopathic scoliosis |
What is (are) neuroferritinopathy ? | Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involunt... | neuroferritinopathy |
How many people are affected by neuroferritinopathy ? | The prevalence of neuroferritinopathy is unknown. Fewer than 100 individuals with this disorder have been reported. | neuroferritinopathy |
What are the genetic changes related to neuroferritinopathy ? | Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows fer... | neuroferritinopathy |
Is neuroferritinopathy 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. Other cases may result from new mutations in the gene. These cases occur in people w... | neuroferritinopathy |
What are the treatments for neuroferritinopathy ? | These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | neuroferritinopathy |
What is (are) hereditary hemochromatosis ? | Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage... | hereditary hemochromatosis |
How many people are affected by hereditary hemochromatosis ? | Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide. | hereditary hemochromatosis |
What are the genetic changes related to hereditary hemochromatosis ? | Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC4... | hereditary hemochromatosis |
Is hereditary hemochromatosis inherited ? | Types 1, 2, and 3 hemochromatosis are 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 mutated gene but do not show signs and symptoms of the condition. ... | hereditary hemochromatosis |
What are the treatments for hereditary hemochromatosis ? | These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis - GeneFacts: Hereditary Hemochr... | hereditary hemochromatosis |
What is (are) metatropic dysplasia ? | Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change ov... | metatropic dysplasia |
How many people are affected by metatropic dysplasia ? | Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature. | metatropic dysplasia |
What are the genetic changes related to metatropic dysplasia ? | Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is kn... | metatropic dysplasia |
Is metatropic dysplasia inherited ? | Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reporte... | metatropic dysplasia |
What are the treatments for metatropic dysplasia ? | These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Test... | metatropic dysplasia |
What is (are) Weaver syndrome ? | Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features can include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chi... | Weaver syndrome |
How many people are affected by Weaver syndrome ? | The prevalence of Weaver syndrome is unknown. About 50 affected individuals have been described in the medical literature. | Weaver syndrome |
What are the genetic changes related to Weaver syndrome ? | Weaver syndrome is usually caused by mutations in the EZH2 gene. The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By ad... | Weaver syndrome |
Is Weaver 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In a small number of cases, an affected person in... | Weaver syndrome |
What are the treatments for Weaver syndrome ? | These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | Weaver syndrome |
What is (are) hereditary neuralgic amyotrophy ? | Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy... | hereditary neuralgic amyotrophy |
How many people are affected by hereditary neuralgic amyotrophy ? | Hereditary neuralgic amyotrophy is a rare disorder, but its specific prevalence is unknown. Approximately 200 families affected by the disorder have been identified worldwide. | hereditary neuralgic amyotrophy |
What are the genetic changes related to hereditary neuralgic amyotrophy ? | Mutations in the SEPT9 gene cause hereditary neuralgic amyotrophy. The SEPT9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cyto... | hereditary neuralgic amyotrophy |
Is hereditary neuralgic amyotrophy 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. | hereditary neuralgic amyotrophy |
What are the treatments for hereditary neuralgic amyotrophy ? | These resources address the diagnosis or management of hereditary neuralgic amyotrophy: - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy - Genetic Testing Registry: Hereditary neuralgic amyotrophy These resources from MedlinePlus offer information about the diagnosis and management of various health cond... | hereditary neuralgic amyotrophy |
What is (are) psoriatic arthritis ? | Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered by flaky white scales. People with psoriasis may also... | psoriatic arthritis |
How many people are affected by psoriatic arthritis ? | Psoriatic arthritis affects an estimated 24 in 10,000 people. Between 5 and 10 percent of people with psoriasis develop psoriatic arthritis, according to most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis itself is a common disorder, affecting approximately 2 to 3 percent of the population ... | psoriatic arthritis |
What are the genetic changes related to psoriatic arthritis ? | The specific cause of psoriatic arthritis is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. Wh... | psoriatic arthritis |
Is psoriatic arthritis inherited ? | This condition has an unknown inheritance pattern. Approximately 40 percent of affected individuals have at least one close family member with psoriasis or psoriatic arthritis. | psoriatic arthritis |
What are the treatments for psoriatic arthritis ? | These resources address the diagnosis or management of psoriatic arthritis: - American Society for Surgery of the Hand - Genetic Testing Registry: Psoriatic arthritis, susceptibility to - The Johns Hopkins Arthritis Center These resources from MedlinePlus offer information about the diagnosis and management of var... | psoriatic arthritis |
What is (are) beta-ureidopropionase deficiency ? | Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. People with beta-ureidopropionase def... | beta-ureidopropionase deficiency |
How many people are affected by beta-ureidopropionase deficiency ? | The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many af... | beta-ureidopropionase deficiency |
What are the genetic changes related to beta-ureidopropionase deficiency ? | Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The beta-ureidopropionase enzy... | beta-ureidopropionase deficiency |
Is beta-ureidopropionase 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. | beta-ureidopropionase deficiency |
What are the treatments for beta-ureidopropionase deficiency ? | These resources address the diagnosis or management of beta-ureidopropionase deficiency: - Genetic Testing Registry: Deficiency of beta-ureidopropionase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery a... | beta-ureidopropionase deficiency |
What is (are) congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete... | congenital diaphragmatic hernia |
How many people are affected by congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. | congenital diaphragmatic hernia |
What are the genetic changes related to congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which c... | congenital diaphragmatic hernia |
Is congenital diaphragmatic hernia inherited ? | Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, there is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condi... | congenital diaphragmatic hernia |
What are the treatments for congenital diaphragmatic hernia ? | These resources address the diagnosis or management of congenital diaphragmatic hernia: - Boston Children's Hospital - Children's Hospital of Philadelphia - Columbia University Medical Center: DHREAMS - Columbia University Medical Center: Hernia Repair - Gene Review: Gene Review: Congenital Diaphragmatic Hernia Ov... | congenital diaphragmatic hernia |
What is (are) Miyoshi myopathy ? | Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, t... | Miyoshi myopathy |
How many people are affected by Miyoshi myopathy ? | The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the condition was first described, it is estimated to affect 1 in 440,000 individuals. | Miyoshi myopathy |
What are the genetic changes related to Miyoshi myopathy ? | Miyoshi myopathy is caused by mutations in the DYSF or ANO5 gene. When this condition is caused by ANO5 gene mutations it is sometimes referred to as distal anoctaminopathy. The DYSF and ANO5 genes provide instructions for making proteins primarily found in muscles that are used for movement (skeletal muscles). The pro... | Miyoshi myopathy |
Is Miyoshi myopathy 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. | Miyoshi myopathy |
What are the treatments for Miyoshi myopathy ? | These resources address the diagnosis or management of Miyoshi myopathy: - Gene Review: Gene Review: ANO5-Related Muscle Diseases - Gene Review: Gene Review: Dysferlinopathy - Genetic Testing Registry: Miyoshi muscular dystrophy 1 - Genetic Testing Registry: Miyoshi muscular dystrophy 3 These resources from Medli... | Miyoshi myopathy |
What is (are) Coats plus syndrome ? | Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder cause... | Coats plus syndrome |
How many people are affected by Coats plus syndrome ? | Coats plus syndrome appears to be a rare disorder. Its prevalence is unknown. | Coats plus syndrome |
What are the genetic changes related to Coats plus syndrome ? | Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally stick... | Coats plus syndrome |
Is Coats plus syndrome inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | Coats plus syndrome |
What are the treatments for Coats plus syndrome ? | These resources address the diagnosis or management of Coats plus syndrome: - Genetic Testing Registry: Cerebroretinal microangiopathy with calcifications and cysts These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy ... | Coats plus syndrome |
What is (are) Duchenne and Becker muscular dystrophy ? | Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscul... | Duchenne and Becker muscular dystrophy |
How many people are affected by Duchenne and Becker muscular dystrophy ? | Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year. | Duchenne and Becker muscular dystrophy |
What are the genetic changes related to Duchenne and Becker muscular dystrophy ? | Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin. This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers. Dystrophin may also play a role in chemica... | Duchenne and Becker muscular dystrophy |
Is Duchenne and Becker muscular dystrophy 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... | Duchenne and Becker muscular dystrophy |
What are the treatments for Duchenne and Becker muscular dystrophy ? | These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystrophy - Genetic Testing Registry: Duchenne muscular dystrophy - G... | Duchenne and Becker muscular dystrophy |
What is (are) Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (... | Nicolaides-Baraitser syndrome |
How many people are affected by Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature. | Nicolaides-Baraitser syndrome |
What are the genetic changes related to Nicolaides-Baraitser syndrome ? | Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the ne... | Nicolaides-Baraitser syndrome |
Is Nicolaides-Baraitser syndrome inherited ? | Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm... | Nicolaides-Baraitser syndrome |
What are the treatments for Nicolaides-Baraitser syndrome ? | These resources address the diagnosis or management of Nicolaides-Baraitser syndrome: - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome - Genetic Testing Registry: Nicolaides-Baraitser syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | Nicolaides-Baraitser syndrome |
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