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What is (are) Nijmegen breakage syndrome ? | Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems. People with this condition typically grow slowly d... | Nijmegen breakage syndrome |
How many people are affected by Nijmegen breakage syndrome ? | The exact prevalence of Nijmegen breakage syndrome is unknown. This condition is estimated to affect one in 100,000 newborns worldwide, but is thought to be most common in the Slavic populations of Eastern Europe. | Nijmegen breakage syndrome |
What are the genetic changes related to Nijmegen breakage syndrome ? | Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. This prot... | Nijmegen breakage syndrome |
Is Nijmegen breakage 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. | Nijmegen breakage syndrome |
What are the treatments for Nijmegen breakage syndrome ? | These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, ... | Nijmegen breakage syndrome |
What is (are) Gorlin syndrome ? | Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most comm... | Gorlin syndrome |
How many people are affected by Gorlin syndrome ? | Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 million new cases of basal cell carcinoma are diagnosed each year in the United States, fewer than 1 percent of these skin cancers are related to Gorlin syndrome. | Gorlin syndrome |
What are the genetic changes related to Gorlin syndrome ? | Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signal... | Gorlin syndrome |
Is Gorlin syndrome inherited ? | Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the PTCH1 gene and occur in people with no... | Gorlin syndrome |
What are the treatments for Gorlin syndrome ? | These resources address the diagnosis or management of Gorlin syndrome: - Gene Review: Gene Review: Nevoid Basal Cell Carcinoma Syndrome - Genetic Testing Registry: Gorlin syndrome - MedlinePlus Encyclopedia: Basal Cell Nevus Syndrome These resources from MedlinePlus offer information about the diagnosis and manag... | Gorlin syndrome |
What is (are) PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not... | PDGFRA-associated chronic eosinophilic leukemia |
How many people are affected by PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is a rare condition; however, the exact prevalence is unknown. | PDGFRA-associated chronic eosinophilic leukemia |
What are the genetic changes related to PDGFRA-associated chronic eosinophilic leukemia ? | PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in peop... | PDGFRA-associated chronic eosinophilic leukemia |
Is PDGFRA-associated chronic eosinophilic leukemia inherited ? | PDGFRA-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Mutations that lead to a PDGFRA fusion gene and PDGFRA point mutations are somatic mutations, which means they occur during a person's lifetime and are found only in certain cells. S... | PDGFRA-associated chronic eosinophilic leukemia |
What are the treatments for PDGFRA-associated chronic eosinophilic leukemia ? | These resources address the diagnosis or management of PDGFRA-associated chronic eosinophilic leukemia: - Cancer.Net: Leukemia - Eosinophilic: Treatment - Genetic Testing Registry: Idiopathic hypereosinophilic syndrome - MedlinePlus Encyclopedia: Eosinophil Count - Absolute - Seattle Cancer Care Alliance: Hypereosi... | PDGFRA-associated chronic eosinophilic leukemia |
What is (are) mitochondrial complex III deficiency ? | Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later. The severity... | mitochondrial complex III deficiency |
How many people are affected by mitochondrial complex III deficiency ? | The prevalence of mitochondrial complex III deficiency is unknown, although the condition is thought to be rare. | mitochondrial complex III deficiency |
What are the genetic changes related to mitochondrial complex III deficiency ? | Mitochondrial complex III deficiency can be caused by mutations in one of several genes. The proteins produced from these genes either are a part of or help assemble a group of proteins called complex III. The two most commonly mutated genes involved in mitochondrial complex III deficiency are MT-CYB and BCS1L. It is l... | mitochondrial complex III deficiency |
Is mitochondrial complex III deficiency inherited ? | Mitochondrial complex III deficiency is usually 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 t... | mitochondrial complex III deficiency |
What are the treatments for mitochondrial complex III deficiency ? | These resources address the diagnosis or management of mitochondrial complex III deficiency: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 - Genetic Testing Registry: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 ... | mitochondrial complex III deficiency |
What is (are) primary myelofibrosis ? | Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofi... | primary myelofibrosis |
How many people are affected by primary myelofibrosis ? | Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide. | primary myelofibrosis |
What are the genetic changes related to primary myelofibrosis ? | Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions,... | primary myelofibrosis |
Is primary myelofibrosis inherited ? | This condition is generally not inherited but arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations. | primary myelofibrosis |
What are the treatments for primary myelofibrosis ? | These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information ... | primary myelofibrosis |
What is (are) Freeman-Sheldon syndrome ? | Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face... | Freeman-Sheldon syndrome |
How many people are affected by Freeman-Sheldon syndrome ? | Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown. | Freeman-Sheldon syndrome |
What are the genetic changes related to Freeman-Sheldon syndrome ? | Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and betw... | Freeman-Sheldon syndrome |
Is Freeman-Sheldon syndrome inherited ? | Freeman-Sheldon syndrome can have different inheritance patterns. In some cases, the 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. The condition can also have an autosomal recessive inheritance pattern, which means bot... | Freeman-Sheldon syndrome |
What are the treatments for Freeman-Sheldon syndrome ? | These resources address the diagnosis or management of Freeman-Sheldon syndrome: - Genetic Testing Registry: Freeman-Sheldon syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | Freeman-Sheldon syndrome |
What is (are) Opitz G/BBB syndrome ? | Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two form... | Opitz G/BBB syndrome |
How many people are affected by Opitz G/BBB syndrome ? | X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 males, although it is likely that this condition is underdiagnosed. The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in 4,000 ... | Opitz G/BBB syndrome |
What are the genetic changes related to Opitz G/BBB syndrome ? | X-linked Opitz G/BBB syndrome is caused by mutations in the MID1 gene. The MID1 gene provides instructions for making a protein called midline-1. This protein attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintai... | Opitz G/BBB syndrome |
Is Opitz G/BBB syndrome inherited ? | When caused by mutations in the MID1 gene, Opitz G/BBB syndrome has an X-linked pattern of inheritance. It is considered X-linked because the MID1 gene is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each c... | Opitz G/BBB syndrome |
What are the treatments for Opitz G/BBB syndrome ? | These resources address the diagnosis or management of Opitz G/BBB syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Gene Review: Gene Review: X-Linked Opitz G/BBB Syndrome - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Opitz-Frias syndrome - MedlinePlus Encyclopedia: ... | Opitz G/BBB syndrome |
What is (are) alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is signi... | alpha thalassemia X-linked intellectual disability syndrome |
How many people are affected by alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported. | alpha thalassemia X-linked intellectual disability syndrome |
What are the genetic changes related to alpha thalassemia X-linked intellectual disability syndrome ? | Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (e... | alpha thalassemia X-linked intellectual disability syndrome |
Is alpha thalassemia X-linked intellectual disability syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The ATRX 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 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one wor... | alpha thalassemia X-linked intellectual disability syndrome |
What are the treatments for alpha thalassemia X-linked intellectual disability syndrome ? | These resources address the diagnosis or management of alpha thalassemia X-linked intellectual disability syndrome: - Gene Review: Gene Review: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - Genetic Testing Registry: ATR-X syndrome - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclo... | alpha thalassemia X-linked intellectual disability syndrome |
What is (are) nephrogenic diabetes insipidus ? | Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly b... | nephrogenic diabetes insipidus |
How many people are affected by nephrogenic diabetes insipidus ? | The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form. | nephrogenic diabetes insipidus |
What are the genetic changes related to nephrogenic diabetes insipidus ? | The hereditary form of nephrogenic diabetes insipidus can be caused by mutations in at least two genes. About 90 percent of all cases of hereditary nephrogenic diabetes insipidus result from mutations in the AVPR2 gene. Most of the remaining 10 percent of cases are caused by mutations in the AQP2 gene. Both of these ge... | nephrogenic diabetes insipidus |
Is nephrogenic diabetes insipidus inherited ? | When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 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 gene in each cell is su... | nephrogenic diabetes insipidus |
What are the treatments for nephrogenic diabetes insipidus ? | These resources address the diagnosis or management of nephrogenic diabetes insipidus: - Gene Review: Gene Review: Nephrogenic Diabetes Insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus - Genetic Testing Registry: Nephrogenic diabetes insipidus, X-linked - Genetic Testing Registry: Nephrogenic di... | nephrogenic diabetes insipidus |
What is (are) 1p36 deletion syndrome ? | 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more th... | 1p36 deletion syndrome |
How many people are affected by 1p36 deletion syndrome ? | 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in 10,000 newborns. However, this may be an underestimate because some affected individuals are likely never diagnosed. | 1p36 deletion syndrome |
What are the genetic changes related to 1p36 deletion syndrome ? | 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. | 1p36 deletion syndrome |
Is 1p36 deletion syndrome inherited ? | Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. About 20 percent of people w... | 1p36 deletion syndrome |
What are the treatments for 1p36 deletion syndrome ? | These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... | 1p36 deletion syndrome |
What is (are) mevalonate kinase deficiency ? | Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 t... | mevalonate kinase deficiency |
How many people are affected by mevalonate kinase deficiency ? | More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS. | mevalonate kinase deficiency |
What are the genetic changes related to mevalonate kinase deficiency ? | Mutations in the MVK gene cause mevalonate kinase deficiency. The MVK gene provides instructions for making the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol, which is later converted into steroid hormones and bile acids. Steroid hormones are needed for normal development and reprod... | mevalonate kinase deficiency |
Is mevalonate kinase 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. | mevalonate kinase deficiency |
What are the treatments for mevalonate kinase deficiency ? | These resources address the diagnosis or management of mevalonate kinase deficiency: - Genetic Testing Registry: Hyperimmunoglobulin D with periodic fever - Genetic Testing Registry: Mevalonic aciduria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | mevalonate kinase deficiency |
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... | cystinuria |
How many people are affected by cystinuria ? | Cystinuria affects approximately 1 in 10,000 people. | cystinuria |
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... | cystinuria |
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. | cystinuria |
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... | cystinuria |
What is (are) myostatin-related muscle hypertrophy ? | Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. Myostatin-related muscle hypertrophy is not known to cause any me... | myostatin-related muscle hypertrophy |
How many people are affected by myostatin-related muscle hypertrophy ? | The prevalence of this condition is unknown. | myostatin-related muscle hypertrophy |
What are the genetic changes related to myostatin-related muscle hypertrophy ? | Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow ... | myostatin-related muscle hypertrophy |
Is myostatin-related muscle hypertrophy inherited ? | Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygo... | myostatin-related muscle hypertrophy |
What are the treatments for myostatin-related muscle hypertrophy ? | These resources address the diagnosis or management of myostatin-related muscle hypertrophy: - Gene Review: Gene Review: Myostatin-Related Muscle Hypertrophy - Genetic Testing Registry: Myostatin-related muscle hypertrophy These resources from MedlinePlus offer information about the diagnosis and management of vari... | myostatin-related muscle hypertrophy |
What is (are) small fiber neuropathy ? | Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain. The attacks usually consist of pain described as stabbing or burning, o... | small fiber neuropathy |
How many people are affected by small fiber neuropathy ? | The prevalence of small fiber neuropathy is unknown. | small fiber neuropathy |
What are the genetic changes related to small fiber neuropathy ? | Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy. These genes provide instructions for making pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit for the NaV1.7 sodium channel and the SCN10A gene instructs the production of the alpha subunit... | small fiber neuropathy |
Is small fiber neuropathy inherited ? | Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one copy of the altered SCN9A gene or SCN10A 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 oc... | small fiber neuropathy |
What are the treatments for small fiber neuropathy ? | These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge... | small fiber neuropathy |
What is (are) Lynch syndrome ? | Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an incre... | Lynch syndrome |
How many people are affected by Lynch syndrome ? | In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome. | Lynch syndrome |
What are the genetic changes related to Lynch syndrome ? | Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent ... | Lynch syndrome |
Is Lynch syndrome inherited ? | Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these ... | Lynch syndrome |
What are the treatments for Lynch syndrome ? | These resources address the diagnosis or management of Lynch syndrome: - 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: Lynch Syndrome - GeneFacts: Lynch Syndrome:... | Lynch syndrome |
What is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscl... | MECP2 duplication syndrome |
How many people are affected by MECP2 duplication syndrome ? | The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome. | MECP2 duplication syndrome |
What are the genetic changes related to MECP2 duplication syndrome ? | MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building block... | MECP2 duplication syndrome |
Is MECP2 duplication syndrome inherited ? | MECP2 duplication syndrome 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 males (who have only one X chromosome), a duplication of the only copy of the MECP2 gene in each cell is sufficient to cause the condition. ... | MECP2 duplication syndrome |
What are the treatments for MECP2 duplication syndrome ? | These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication syndrome These resources from MedlinePlus... | MECP2 duplication syndrome |
What is (are) aromatase excess syndrome ? | Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop g... | aromatase excess syndrome |
How many people are affected by aromatase excess syndrome ? | The prevalence of aromatase excess syndrome is unknown; more than 20 cases have been described in the medical literature. | aromatase excess syndrome |
What are the genetic changes related to aromatase excess syndrome ? | Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In female... | aromatase excess syndrome |
Is aromatase excess syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means a genetic rearrangement involving one copy of the CYP19A1 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 genetic changes and oc... | aromatase excess syndrome |
What are the treatments for aromatase excess syndrome ? | These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Ther... | aromatase excess syndrome |
What is (are) hereditary fructose intolerance ? | Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the di... | hereditary fructose intolerance |
How many people are affected by hereditary fructose intolerance ? | The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide. | hereditary fructose intolerance |
What are the genetic changes related to hereditary fructose intolerance ? | Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second st... | hereditary fructose intolerance |
Is hereditary fructose intolerance 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. | hereditary fructose intolerance |
What are the treatments for hereditary fructose intolerance ? | These resources address the diagnosis or management of hereditary fructose intolerance: - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis - Gene Review: Gene Review: Hereditary Fructose Intolerance - Genetic Testing Registry: Hereditary fructosuria - MedlinePlus Encyclopedia: Hered... | hereditary fructose intolerance |
What is (are) Shwachman-Diamond syndrome ? | Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight... | Shwachman-Diamond syndrome |
How many people are affected by Shwachman-Diamond syndrome ? | Researchers are not sure how common Shwachman-Diamond syndrome is. Several hundred cases have been reported in scientific studies. | Shwachman-Diamond syndrome |
What are the genetic changes related to Shwachman-Diamond syndrome ? | Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein whose function is unknown, although it is active in cells throughout the body. Researchers suspect that the SBDS protein may ... | Shwachman-Diamond syndrome |
Is Shwachman-Diamond 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. | Shwachman-Diamond syndrome |
What are the treatments for Shwachman-Diamond syndrome ? | These resources address the diagnosis or management of Shwachman-Diamond syndrome: - Gene Review: Gene Review: Shwachman-Diamond Syndrome - Genetic Testing Registry: Shwachman syndrome - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of... | Shwachman-Diamond syndrome |
What is (are) Myhre syndrome ? | Myhre syndrome is a condition with features affecting many systems and functions of the body. People with Myhre syndrome usually have delayed development of language and motor skills such as crawling and walking. Most have intellectual disability that ranges from mild to moderate. Some have behavioral issues such as f... | Myhre syndrome |
How many people are affected by Myhre syndrome ? | Myhre syndrome is a rare disorder. Only about 30 cases have been documented in the medical literature. For reasons that are unknown, most affected individuals have been males. | Myhre syndrome |
What are the genetic changes related to Myhre syndrome ? | Mutations in the SMAD4 gene cause Myhre syndrome. The SMAD4 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect... | Myhre syndrome |
Is Myhre 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. | Myhre syndrome |
What are the treatments for Myhre syndrome ? | These resources address the diagnosis or management of Myhre syndrome: - Centers for Disease Control and Prevention: Types of Hearing Loss - Genetic Testing Registry: Myhre syndrome - National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and Hard-of-Hearin... | Myhre syndrome |
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