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What is (are) familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolate... | familial isolated hyperparathyroidism |
How many people are affected by familial isolated hyperparathyroidism ? | The prevalence of familial isolated hyperparathyroidism is unknown. | familial isolated hyperparathyroidism |
What are the genetic changes related to familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled ... | familial isolated hyperparathyroidism |
Is familial isolated hyperparathyroidism inherited ? | This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | familial isolated hyperparathyroidism |
What are the treatments for familial isolated hyperparathyroidism ? | These resources address the diagnosis or management of familial isolated hyperparathyroidism: - Cleveland Clinic: Hyperparathyroidism - Gene Review: Gene Review: CDC73-Related Disorders - Genetic Testing Registry: Hyperparathyroidism 1 - MedlinePlus Encyclopedia: Hyperparathyroidism These resources from MedlinePl... | familial isolated hyperparathyroidism |
What is (are) benign recurrent intrahepatic cholestasis ? | Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is de... | benign recurrent intrahepatic cholestasis |
How many people are affected by benign recurrent intrahepatic cholestasis ? | BRIC is a rare disorder. Although the prevalence is unknown, this condition is less common than the related disorder PFIC, which affects approximately 1 in 50,000 to 100,000 people worldwide. | benign recurrent intrahepatic cholestasis |
What are the genetic changes related to benign recurrent intrahepatic cholestasis ? | Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats. The ATP8B1... | benign recurrent intrahepatic cholestasis |
Is benign recurrent intrahepatic cholestasis inherited ? | Both types of BRIC 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 of the condition. Some peopl... | benign recurrent intrahepatic cholestasis |
What are the treatments for benign recurrent intrahepatic cholestasis ? | These resources address the diagnosis or management of benign recurrent intrahepatic cholestasis: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 1 - Genetic Testing Registry: Benign recurrent intrahepatic cholestasis 2 - Merck Manual Home Health E... | benign recurrent intrahepatic cholestasis |
What is (are) Danon disease ? | Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs an... | Danon disease |
How many people are affected by Danon disease ? | Danon disease is a rare condition, but the exact prevalence is unknown. | Danon disease |
What are the genetic changes related to Danon disease ? | Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and... | Danon disease |
Is Danon disease inherited ? | This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In male... | Danon disease |
What are the treatments for Danon disease ? | These resources address the diagnosis or management of Danon disease: - American Heart Association: Dilated Cardiomyopathy - Genetic Testing Registry: Danon disease - KidsHealth from Nemours: Getting an EKG - Swedish Information Centre for Rare Diseases These resources from MedlinePlus offer information about the... | Danon disease |
What is (are) horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their ... | horizontal gaze palsy with progressive scoliosis |
How many people are affected by horizontal gaze palsy with progressive scoliosis ? | HGPPS has been reported in several dozen families worldwide. | horizontal gaze palsy with progressive scoliosis |
What are the genetic changes related to horizontal gaze palsy with progressive scoliosis ? | HGPPS is caused by mutations in the ROBO3 gene. This gene provides instructions for making a protein that is important for the normal development of certain nerve pathways in the brain. These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which tran... | horizontal gaze palsy with progressive scoliosis |
Is horizontal gaze palsy with progressive scoliosis 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. | horizontal gaze palsy with progressive scoliosis |
What are the treatments for horizontal gaze palsy with progressive scoliosis ? | These resources address the diagnosis or management of HGPPS: - Genetic Testing Registry: Gaze palsy, familial horizontal, with progressive scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and ... | horizontal gaze palsy with progressive scoliosis |
What is (are) familial restrictive cardiomyopathy ? | Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart... | familial restrictive cardiomyopathy |
How many people are affected by familial restrictive cardiomyopathy ? | The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired ... | familial restrictive cardiomyopathy |
What are the genetic changes related to familial restrictive cardiomyopathy ? | Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three ... | familial restrictive cardiomyopathy |
Is familial restrictive cardiomyopathy 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. | familial restrictive cardiomyopathy |
What are the treatments for familial restrictive cardiomyopathy ? | These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: ... | familial restrictive cardiomyopathy |
What is (are) early-onset glaucoma ? | Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photo... | early-onset glaucoma |
How many people are affected by early-onset glaucoma ? | Primary congenital glaucoma affects approximately 1 in 10,000 people. Its frequency is higher in the Middle East. Juvenile open-angle glaucoma affects about 1 in 50,000 people. Primary open-angle glaucoma is much more common after the age of 40, affecting about 1 percent of the population worldwide. | early-onset glaucoma |
What are the genetic changes related to early-onset glaucoma ? | Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain struc... | early-onset glaucoma |
Is early-onset glaucoma inherited ? | Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mut... | early-onset glaucoma |
What are the treatments for early-onset glaucoma ? | These resources address the diagnosis or management of early-onset glaucoma: - Gene Review: Gene Review: Primary Congenital Glaucoma - Genetic Testing Registry: Glaucoma, congenital - Genetic Testing Registry: Primary open angle glaucoma juvenile onset 1 - MedlinePlus Encyclopedia: Glaucoma These resources from M... | early-onset glaucoma |
What is (are) oculopharyngeal muscular dystrophy ? | Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but ... | oculopharyngeal muscular dystrophy |
How many people are affected by oculopharyngeal muscular dystrophy ? | In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculo... | oculopharyngeal muscular dystrophy |
What are the genetic changes related to oculopharyngeal muscular dystrophy ? | Mutations in the PABPN1 gene cause oculopharyngeal muscular dystrophy. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints ... | oculopharyngeal muscular dystrophy |
Is oculopharyngeal muscular dystrophy inherited ? | Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded pol... | oculopharyngeal muscular dystrophy |
What are the treatments for oculopharyngeal muscular dystrophy ? | These resources address the diagnosis or management of oculopharyngeal muscular dystrophy: - Gene Review: Gene Review: Oculopharyngeal Muscular Dystrophy - Genetic Testing Registry: Oculopharyngeal muscular dystrophy - MedlinePlus Encyclopedia: Ptosis These resources from MedlinePlus offer information about the di... | oculopharyngeal muscular dystrophy |
What is (are) late-infantile neuronal ceroid lipofuscinosis ? | Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (a... | late-infantile neuronal ceroid lipofuscinosis |
How many people are affected by late-infantile neuronal ceroid lipofuscinosis ? | The prevalence of late-infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. | late-infantile neuronal ceroid lipofuscinosis |
What are the genetic changes related to late-infantile neuronal ceroid lipofuscinosis ? | Mutations in the TPP1 gene cause most cases of late-infantile NCL. Mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes each account for a small percentage of cases. The TPP1 gene produces an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle d... | late-infantile neuronal ceroid lipofuscinosis |
Is late-infantile neuronal ceroid lipofuscinosis 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. | late-infantile neuronal ceroid lipofuscinosis |
What are the treatments for late-infantile neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis: - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5 - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6 - Genetic Testing Registry: Ceroi... | late-infantile neuronal ceroid lipofuscinosis |
What is (are) adenine phosphoribosyltransferase deficiency ? | Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, cau... | adenine phosphoribosyltransferase deficiency |
How many people are affected by adenine phosphoribosyltransferase deficiency ? | APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The condition is rarer in Europe, where it is thought to affect 1 in 50,000 to 100,000 people. The prevalence of APRT deficiency outside these populations is unknown. | adenine phosphoribosyltransferase deficiency |
What are the genetic changes related to adenine phosphoribosyltransferase deficiency ? | Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mu... | adenine phosphoribosyltransferase deficiency |
Is adenine phosphoribosyltransferase 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. | adenine phosphoribosyltransferase deficiency |
What are the treatments for adenine phosphoribosyltransferase deficiency ? | These resources address the diagnosis or management of adenine phosphoribosyltransferase deficiency: - Boston Children's Hospital: Pediatric Kidney Stones in Children - Gene Review: Gene Review: Adenine Phosphoribosyltransferase Deficiency - Genetic Testing Registry: Adenine phosphoribosyltransferase deficiency Th... | adenine phosphoribosyltransferase deficiency |
What is (are) familial paroxysmal nonkinesigenic dyskinesia ? | Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movemen... | familial paroxysmal nonkinesigenic dyskinesia |
How many people are affected by familial paroxysmal nonkinesigenic dyskinesia ? | Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its prevalence is estimated to be 1 in 5 million people. | familial paroxysmal nonkinesigenic dyskinesia |
What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ? | Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research ha... | familial paroxysmal nonkinesigenic dyskinesia |
Is familial paroxysmal nonkinesigenic dyskinesia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is typically sufficient to cause the disorder. Almost everyone with a mutation in the PNKD gene will develop familial paroxysmal nonkinesigenic dyskinesia. In all reported cases, an affected person has in... | familial paroxysmal nonkinesigenic dyskinesia |
What are the treatments for familial paroxysmal nonkinesigenic dyskinesia ? | These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Registry: Paroxysmal nonkinesigenic dyskinesia 2 These resources f... | familial paroxysmal nonkinesigenic dyskinesia |
What is (are) CHARGE syndrome ? | CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants o... | CHARGE syndrome |
How many people are affected by CHARGE syndrome ? | CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 individuals. | CHARGE syndrome |
What are the genetic changes related to CHARGE syndrome ? | Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The ... | CHARGE syndrome |
Is CHARGE syndrome inherited ? | CHARGE 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. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits ... | CHARGE syndrome |
What are the treatments for CHARGE syndrome ? | These resources address the diagnosis or management of CHARGE syndrome: - Gene Review: Gene Review: CHARGE Syndrome - Genetic Testing Registry: CHARGE association - MedlinePlus Encyclopedia: Choanal atresia - MedlinePlus Encyclopedia: Coloboma - MedlinePlus Encyclopedia: Facial Paralysis These resources from Med... | CHARGE syndrome |
What is (are) Romano-Ward syndrome ? | Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The irregular heartbeats can lead to fainting (synco... | Romano-Ward syndrome |
How many people are affected by Romano-Ward syndrome ? | Romano-Ward syndrome is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. The disorder may actually be more common than this estimate, however, because some people never experience any symptoms associated with arrhythmia and therefore may not have been diagnosed. | Romano-Ward syndrome |
What are the genetic changes related to Romano-Ward syndrome ? | Mutations in the KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes cause Romano-Ward syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle, i... | Romano-Ward syndrome |
Is Romano-Ward syndrome inherited ? | This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in one of the genes d... | Romano-Ward syndrome |
What are the treatments for Romano-Ward syndrome ? | These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhythmias These resources from MedlinePlus offer information about... | Romano-Ward syndrome |
What is (are) vitamin D-dependent rickets ? | Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). The condition is split into two major types: type 1 (VDDR1), which is also known as pseudovitamin D deficiency rickets or vitamin D 1-hydroxylase deficiency, and type 2 (VDDR2), also known as here... | vitamin D-dependent rickets |
How many people are affected by vitamin D-dependent rickets ? | Rickets affects an estimated 1 in 200,000 children. The condition is most often caused by a lack of vitamin D in the diet or insufficient sun exposure rather than genetic mutations; genetic forms of rickets, including VDDR1 and VDDR2, are much less common. The prevalence of VDDR1 and VDDR2 is unknown. VDDR1 is more com... | vitamin D-dependent rickets |
What are the genetic changes related to vitamin D-dependent rickets ? | The two types of vitamin D-dependent rickets have different genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved in the body's response to vitamin D, an important vitamin that can be can be acquired from foods in the diet or made by the body with the help of su... | vitamin D-dependent rickets |
Is vitamin D-dependent rickets 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. | vitamin D-dependent rickets |
What are the treatments for vitamin D-dependent rickets ? | These resources address the diagnosis or management of vitamin D-dependent rickets: - Genetic Testing Registry: Vitamin D-dependent rickets, type 1 - Genetic Testing Registry: Vitamin D-dependent rickets, type 2 - Genetic Testing Registry: Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor These ... | vitamin D-dependent rickets |
What is (are) megalencephaly-capillary malformation syndrome ? | Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). In individuals with MCAP, megalencep... | megalencephaly-capillary malformation syndrome |
How many people are affected by megalencephaly-capillary malformation syndrome ? | The prevalence of MCAP is unknown. At least 150 affected individuals have been reported in the medical literature. Because the condition is often thought to be misdiagnosed or underdiagnosed, it may be more common than reported. | megalencephaly-capillary malformation syndrome |
What are the genetic changes related to megalencephaly-capillary malformation syndrome ? | MCAP is caused by mutations in the PIK3CA gene, which provides instructions for making the p110 alpha (p110) protein. This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities,... | megalencephaly-capillary malformation syndrome |
Is megalencephaly-capillary malformation syndrome inherited ? | MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a... | megalencephaly-capillary malformation syndrome |
What are the treatments for megalencephaly-capillary malformation syndrome ? | These resources address the diagnosis or management of megalencephaly-capillary malformation syndrome: - Contact a Family - Gene Review: Gene Review: PIK3CA-Related Segmental Overgrowth - Genetic Testing Registry: Megalencephaly cutis marmorata telangiectatica congenita - M-CM Network: How is M-CM Diagnosed? Thes... | megalencephaly-capillary malformation syndrome |
What is (are) trichohepatoenteric syndrome ? | Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body. This condition is also known as syndromic diarrhea because chronic, difficult-to-treat diarrhea is one of its major features. Within the first few week... | trichohepatoenteric syndrome |
How many people are affected by trichohepatoenteric syndrome ? | Trichohepatoenteric syndrome is a rare condition with an estimated prevalence of about 1 in 1 million people. At least 44 cases have been reported in the medical literature. | trichohepatoenteric syndrome |
What are the genetic changes related to trichohepatoenteric syndrome ? | Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes provide instructions for making proteins whose functions have not been confirmed. Researchers speculate that they work together with other proteins within cells to help recognize and break down excess or abnormal messenger ... | trichohepatoenteric syndrome |
Is trichohepatoenteric 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. | trichohepatoenteric syndrome |
What are the treatments for trichohepatoenteric syndrome ? | These resources address the diagnosis or management of trichohepatoenteric syndrome: - American Society for Parenteral and Enteral Nutrition: What is Parenteral Nutrition? - Genetic Testing Registry: Trichohepatoenteric syndrome - Genetic Testing Registry: Trichohepatoenteric syndrome 2 - MedlinePlus Health Topic: ... | trichohepatoenteric syndrome |
What is (are) Peutz-Jeghers syndrome ? | Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-color... | Peutz-Jeghers syndrome |
How many people are affected by Peutz-Jeghers syndrome ? | The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals. | Peutz-Jeghers syndrome |
What are the genetic changes related to Peutz-Jeghers syndrome ? | Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in this gene alters the structure or function of the STK11 prote... | Peutz-Jeghers syndrome |
Is Peutz-Jeghers syndrome inherited ? | Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected pa... | Peutz-Jeghers syndrome |
What are the treatments for Peutz-Jeghers syndrome ? | These resources address the diagnosis or management of Peutz-Jeghers syndrome: - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Peutz-Jeghers syndrome - MedlinePlus Encyclopedia: Peutz-Jeghers Syndrome These resources from MedlinePlus offer information about the diagnosis and manageme... | Peutz-Jeghers syndrome |
What is (are) mucolipidosis II alpha/beta ? | Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Aff... | mucolipidosis II alpha/beta |
How many people are affected by mucolipidosis II alpha/beta ? | Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide. | mucolipidosis II alpha/beta |
What are the genetic changes related to mucolipidosis II alpha/beta ? | Mutations in the GNPTAB gene cause mucolipidosis II alpha/beta. This gene provides instructions for making part of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break... | mucolipidosis II alpha/beta |
Is mucolipidosis II alpha/beta 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. | mucolipidosis II alpha/beta |
What are the treatments for mucolipidosis II alpha/beta ? | These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis These resources f... | mucolipidosis II alpha/beta |
What is (are) hereditary hemorrhagic telangiectasia ? | Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through t... | hereditary hemorrhagic telangiectasia |
How many people are affected by hereditary hemorrhagic telangiectasia ? | The incidence of hereditary hemorrhagic telangiectasia is difficult to determine because the severity of symptoms can vary widely and some symptoms, such as frequent nosebleeds, are common in the general population. In addition, arteriovenous malformations may be associated with other medical conditions. Hereditary hem... | hereditary hemorrhagic telangiectasia |
What are the genetic changes related to hereditary hemorrhagic telangiectasia ? | Mutations in the ACVRL1, ENG, and SMAD4 genes cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the gene ENG. Type 2 is caused by mutations in the gene ACVRL1. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in t... | hereditary hemorrhagic telangiectasia |
Is hereditary hemorrhagic telangiectasia 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 hemorrhagic telangiectasia |
What are the treatments for hereditary hemorrhagic telangiectasia ? | These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia: - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2 - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3 - Genetic ... | hereditary hemorrhagic telangiectasia |
What is (are) 47,XYY syndrome ? | 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father chi... | 47,XYY syndrome |
How many people are affected by 47,XYY syndrome ? | This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day. | 47,XYY syndrome |
What are the genetic changes related to 47,XYY syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (... | 47,XYY syndrome |
Is 47,XYY syndrome inherited ? | Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the g... | 47,XYY syndrome |
What are the treatments for 47,XYY syndrome ? | These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... | 47,XYY syndrome |
What is (are) moyamoya disease ? | Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new net... | moyamoya disease |
How many people are affected by moyamoya disease ? | Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 in 100,000 individuals. The condition is also relatively common in other Asian populations. It is ten times less common in Europe. In the United States, Asian Americans are four times more commonly affected than whites. For un... | moyamoya disease |
What are the genetic changes related to moyamoya disease ? | The genetics of moyamoya disease are not well understood. Research suggests that the condition can be passed through families, and changes in one gene, RNF213, have been associated with the condition. Other genes that have not been identified may be involved in moyamoya disease. It is also likely that other factors (su... | moyamoya disease |
Is moyamoya disease inherited ? | Up to 15 percent of Japanese people with moyamoya disease have one or more family members with the condition, indicating that the condition can be passed through generations in families; however, the inheritance pattern is unknown. Research suggests that the condition follows an autosomal dominant pattern, which means ... | moyamoya disease |
What are the treatments for moyamoya disease ? | These resources address the diagnosis or management of moyamoya disease: - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease? - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease - Genetic Testing Registry: Moyamoya disease - Genetic Testing Registry: ... | moyamoya disease |
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