qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to cherubism ? | Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical si... |
inheritance | Is cherubism 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. |
treatment | What are the treatments for cherubism ? | These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... |
information | What is (are) Alport syndrome ? | Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many peopl... |
frequency | How many people are affected by Alport syndrome ? | Alport syndrome occurs in approximately 1 in 50,000 newborns. |
genetic changes | What are the genetic changes related to Alport syndrome ? | Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vess... |
inheritance | Is Alport syndrome inherited ? | Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern. This gene 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 CO... |
treatment | What are the treatments for Alport syndrome ? | These resources address the diagnosis or management of Alport syndrome: - Gene Review: Gene Review: Alport Syndrome and Thin Basement Membrane Nephropathy - Genetic Testing Registry: Alport syndrome - Genetic Testing Registry: Alport syndrome, X-linked recessive - Genetic Testing Registry: Alport syndrome, autosoma... |
information | What is (are) branchiootorenal/branchiootic syndrome ? | Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome... |
frequency | How many people are affected by branchiootorenal/branchiootic syndrome ? | Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. |
genetic changes | What are the genetic changes related to branchiootorenal/branchiootic syndrome ? | Mutations in three genes, EYA1, SIX1, and SIX5, have been reported in people with BOR/BO syndrome. About 40 percent of people with this condition have a mutation in the EYA1 gene. SIX1 gene mutations are a much less common cause of the disorder. SIX5 gene mutations have been found in a small number of people with BOR s... |
inheritance | Is branchiootorenal/branchiootic syndrome inherited ? | BOR/BO syndrome 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 about 90 percent of cases, an affected person inherits the mutation from one affected parent. The remaining cases result from new mutations in the gene and occur i... |
treatment | What are the treatments for branchiootorenal/branchiootic syndrome ? | These resources address the diagnosis or management of branchiootorenal/branchiootic syndrome: - Gene Review: Gene Review: Branchiootorenal Spectrum Disorders - Genetic Testing Registry: Branchiootic syndrome - Genetic Testing Registry: Branchiootic syndrome 2 - Genetic Testing Registry: Branchiootic syndrome 3 - ... |
information | What is (are) deafness-dystonia-optic neuronopathy syndrome ? | Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjrg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males. The first symptom of DDON syndrome is hearing loss ... |
frequency | How many people are affected by deafness-dystonia-optic neuronopathy syndrome ? | DDON syndrome is a rare disorder; it has been reported in fewer than 70 people worldwide. |
genetic changes | What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ? | Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other ... |
inheritance | Is deafness-dystonia-optic neuronopathy syndrome inherited ? | DDON syndrome 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 tw... |
treatment | What are the treatments for deafness-dystonia-optic neuronopathy syndrome ? | These resources address the diagnosis or management of deafness-dystonia-optic neuronopathy syndrome: - Gene Review: Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome - Genetic Testing Registry: Mohr-Tranebjaerg syndrome These resources from MedlinePlus offer information about the diagnosis and management ... |
information | What is (are) Milroy disease ? | Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema... |
frequency | How many people are affected by Milroy disease ? | Milroy disease is a rare disorder; its incidence is unknown. |
genetic changes | What are the genetic changes related to Milroy disease ? | Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system. Mutations in the FLT4 gene interfere with the growth, moveme... |
inheritance | Is Milroy disease inherited ? | Milroy disease 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 many cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the FLT4 gene. These cases occur in peop... |
treatment | What are the treatments for Milroy disease ? | These resources address the diagnosis or management of Milroy disease: - Gene Review: Gene Review: Milroy Disease - Genetic Testing Registry: Hereditary lymphedema type I - MedlinePlus Encyclopedia: Lymphatic Obstruction These resources from MedlinePlus offer information about the diagnosis and management of vario... |
information | What is (are) frontonasal dysplasia ? | Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central ... |
frequency | How many people are affected by frontonasal dysplasia ? | Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to frontonasal dysplasia ? | Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX... |
inheritance | Is frontonasal dysplasia inherited ? | When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it 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 d... |
treatment | What are the treatments for frontonasal dysplasia ? | These resources address the diagnosis or management of frontonasal dysplasia: - Genetic Testing Registry: Frontonasal dysplasia 1 - Genetic Testing Registry: Frontonasal dysplasia 2 - Genetic Testing Registry: Frontonasal dysplasia 3 - KidsHealth from Nemours: Cleft Lip and Palate - MedlinePlus Encyclopedia: Head ... |
information | What is (are) FOXG1 syndrome ? | FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of b... |
frequency | How many people are affected by FOXG1 syndrome ? | FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to FOXG1 syndrome ? | As its name suggests, FOXG1 syndrome is caused by changes involving the FOXG1 gene. This gene provides instructions for making a protein called forkhead box G1. This protein plays an important role in brain development before birth, particularly in a region of the embryonic brain known as the telencephalon. The telence... |
inheritance | Is FOXG1 syndrome inherited ? | FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. ... |
treatment | What are the treatments for FOXG1 syndrome ? | These resources address the diagnosis or management of FOXG1 syndrome: - Genetic Testing Registry: Rett syndrome, congenital variant These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -... |
information | What is (are) hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood... |
frequency | How many people are affected by hyperparathyroidism-jaw tumor syndrome ? | The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ? | Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. P... |
inheritance | Is hyperparathyroidism-jaw tumor 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. |
treatment | What are the treatments for hyperparathyroidism-jaw tumor syndrome ? | These resources address the diagnosis or management of hyperparathyroidism-jaw tumor syndrome: - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 2 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePlus offer information about the diagnosis... |
information | What is (are) juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have ... |
frequency | How many people are affected by juvenile idiopathic arthritis ? | The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic a... |
genetic changes | What are the genetic changes related to juvenile idiopathic arthritis ? | Juvenile idiopathic arthritis is thought to arise from a combination of genetic and environmental factors. The term "idiopathic" indicates that the specific cause of the disorder is unknown. Its signs and symptoms result from excessive inflammation in and around the joints. Inflammation occurs when the immune system se... |
inheritance | Is juvenile idiopathic arthritis inherited ? | Most cases of juvenile idiopathic arthritis are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of juvenile idiopathic arthritis have been reported to run in families, although the inheritance pattern of the condition is unclear. A sibling of a per... |
treatment | What are the treatments for juvenile idiopathic arthritis ? | These resources address the diagnosis or management of juvenile idiopathic arthritis: - American College of Rheumatology: Arthritis in Children - Genetic Testing Registry: Rheumatoid arthritis, systemic juvenile These resources from MedlinePlus offer information about the diagnosis and management of various health ... |
information | 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 ... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) cystinuria ? | Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodst... |
frequency | How many people are affected by cystinuria ? | Cystinuria affects approximately 1 in 10,000 people. |
genetic changes | What are the genetic changes related to cystinuria ? | Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood fro... |
inheritance | Is cystinuria 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 cystinuria ? | These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
information | What is (are) hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts ... |
frequency | How many people are affected by hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in 200,000 individuals. |
genetic changes | What are the genetic changes related to hyperferritinemia-cataract syndrome ? | Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of ... |
inheritance | Is hyperferritinemia-cataract 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. |
treatment | What are the treatments for hyperferritinemia-cataract syndrome ? | These resources address the diagnosis or management of hyperferritinemia-cataract syndrome: - Boston Children's Hospital: Cataracts in Children - Genetic Testing Registry: Hyperferritinemia cataract syndrome - MedlinePlus Encyclopedia: Cataract Removal These resources from MedlinePlus offer information about the d... |
information | What is (are) cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, usually called CADASIL, is an inherited condition that causes stroke and other impairments. This condition affects blood flow in small blood vessels, particularly cerebral vessels within the brain. The muscle cells surrounding t... |
frequency | How many people are affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | CADASIL is likely a rare condition; however, its prevalence is unknown. |
genetic changes | What are the genetic changes related to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the... |
inheritance | Is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH3 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 rare cases may result from new mutations in the NOTCH3 gene. These case... |
treatment | What are the treatments for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ? | These resources address the diagnosis or management of CADASIL: - Butler Hospital: Treatment and Management of CADASIL - Gene Review: Gene Review: CADASIL - Genetic Testing Registry: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - MedlinePlus Encyclopedia: Multi-Infarct ... |
information | What is (are) junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional e... |
frequency | How many people are affected by junctional epidermolysis bullosa ? | Both types of junctional epidermolysis bullosa are rare, affecting fewer than 1 per million people in the United States. |
genetic changes | What are the genetic changes related to junctional epidermolysis bullosa ? | Junctional epidermolysis bullosa results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause Herlitz JEB or non-Herlitz JEB. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. The LAMA3, LAMB3, and LA... |
inheritance | Is junctional epidermolysis bullosa inherited ? | Both types of junctional epidermolysis bullosa are 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 o... |
treatment | What are the treatments for junctional epidermolysis bullosa ? | These resources address the diagnosis or management of junctional epidermolysis bullosa: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Junctional Epidermolysis Bullosa - Genetic Testing Registry: Adult junctional epidermolysis bullosa - Genetic Testing Reg... |
information | What is (are) Langerhans cell histiocytosis ? | Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell hi... |
frequency | How many people are affected by Langerhans cell histiocytosis ? | Langerhans cell histiocytosis is a rare disorder. Its prevalence is estimated at 1 to 2 in 100,000 people. |
genetic changes | What are the genetic changes related to Langerhans cell histiocytosis ? | Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited. The BRAF gene provides instructions for... |
inheritance | Is Langerhans cell histiocytosis inherited ? | Langerhans cell histiocytosis is usually not inherited and typically occurs in people with no history of the disorder in their family. A few families with multiple cases of Langerhans cell histiocytosis have been identified, but the inheritance pattern is unknown. |
treatment | What are the treatments for Langerhans cell histiocytosis ? | These resources address the diagnosis or management of Langerhans cell histiocytosis: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Langerhans cell histiocytosis, multifocal - National Cancer Institute: Langerhans Cell Histiocytosis Treatment - Seattle Children's Ho... |
information | What is (are) childhood myocerebrohepatopathy spectrum ? | Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few mo... |
frequency | How many people are affected by childhood myocerebrohepatopathy spectrum ? | The prevalence of childhood myocerebrohepatopathy spectrum is unknown. |
genetic changes | What are the genetic changes related to childhood myocerebrohepatopathy spectrum ? | MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria eac... |
inheritance | Is childhood myocerebrohepatopathy spectrum 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 childhood myocerebrohepatopathy spectrum ? | These resources address the diagnosis or management of MCHS: - Gene Review: Gene Review: POLG-Related Disorders - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnos... |
information | What is (are) Crouzon syndrome ? | Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal ... |
frequency | How many people are affected by Crouzon syndrome ? | Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome. |
genetic changes | What are the genetic changes related to Crouzon syndrome ? | Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate sig... |
inheritance | Is Crouzon 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. |
treatment | What are the treatments for Crouzon syndrome ? | These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis and managemen... |
information | What is (are) phosphoglycerate dehydrogenase deficiency ? | Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been de... |
frequency | How many people are affected by phosphoglycerate dehydrogenase deficiency ? | This condition is likely a rare disorder, but its prevalence is unknown. At least 15 cases have been described in the scientific literature. |
genetic changes | What are the genetic changes related to phosphoglycerate dehydrogenase deficiency ? | Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency. The PHGDH gene provides instructions for making the parts (subunits) that make up the phosphoglycerate dehydrogenase enzyme. Four PHGDH subunits combine to form the enzyme. This enzyme is involved in the production of the protein building bloc... |
inheritance | Is phosphoglycerate 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 phosphoglycerate dehydrogenase deficiency ? | These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management... |
information | What is (are) Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continu... |
frequency | How many people are affected by Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer than 100 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to Hajdu-Cheney syndrome ? | Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When a ligand binds to the Notch2 receptor, it triggers signals t... |
inheritance | Is Hajdu-Cheney syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered NOTCH2 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. Less commonly, an affected person inherits... |
treatment | What are the treatments for Hajdu-Cheney syndrome ? | These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene... |
information | What is (are) molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormali... |
frequency | How many people are affected by molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher. |
genetic changes | What are the genetic changes related to molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is caused by mutations in the MOCS1, MOCS2, or GPHN gene. There are three forms of the disorder, named types A, B, and C (or complementation groups A, B, and C). The forms have the same signs and symptoms but are distinguished by their genetic cause: MOCS1 gene mutations cause type A, MOC... |
inheritance | Is molybdenum cofactor deficiency inherited ? | Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show s... |
treatment | What are the treatments for molybdenum cofactor deficiency ? | These resources address the diagnosis or management of molybdenum cofactor deficiency: - Genetic Testing Registry: Combined molybdoflavoprotein enzyme deficiency - Genetic Testing Registry: Molybdenum cofactor deficiency, complementation group A - Genetic Testing Registry: Molybdenum cofactor deficiency, complementa... |
information | What is (are) focal dermal hypoplasia ? | Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. People w... |
frequency | How many people are affected by focal dermal hypoplasia ? | Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown. |
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