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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... | Alport syndrome |
How many people are affected by Alport syndrome ? | Alport syndrome occurs in approximately 1 in 50,000 newborns. | Alport syndrome |
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... | Alport syndrome |
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... | Alport syndrome |
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... | Alport syndrome |
What is (are) Huntington disease-like syndrome ? | As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled moveme... | Huntington disease-like syndrome |
How many people are affected by Huntington disease-like syndrome ? | Overall, HDL syndromes are rare. They are much less common than Huntington disease, which affects an estimated 3 to 7 per 100,000 people of European ancestry. Of the four described HDL syndromes, HDL4 appears to be the most common. HDL2 is the second most common and occurs almost exclusively in people of African herit... | Huntington disease-like syndrome |
What are the genetic changes related to Huntington disease-like syndrome ? | In about one percent of people with the characteristic features of Huntington disease, no mutation in the HD gene has been identified. Mutations in the PRNP, JPH3, and TBP genes have been found to cause the signs and symptoms in some of these individuals. HDL1 is caused by mutations in the PRNP gene, while HDL2 results... | Huntington disease-like syndrome |
Is Huntington disease-like syndrome inherited ? | HDL1, HDL2, and HDL4 are 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. As the mutation responsible for HDL2 or HDL4 is passed down from one generati... | Huntington disease-like syndrome |
What are the treatments for Huntington disease-like syndrome ? | These resources address the diagnosis or management of Huntington disease-like syndrome: - Gene Review: Gene Review: Huntington Disease-Like 2 - Gene Review: Gene Review: Spinocerebellar Ataxia Type 17 - Genetic Testing Registry: Huntington disease-like 1 - Genetic Testing Registry: Huntington disease-like 2 - Gen... | Huntington disease-like syndrome |
What is (are) Holt-Oram syndrome ? | Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these w... | Holt-Oram syndrome |
How many people are affected by Holt-Oram syndrome ? | Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. | Holt-Oram syndrome |
What are the genetic changes related to Holt-Oram syndrome ? | Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septati... | Holt-Oram syndrome |
Is Holt-Oram 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. | Holt-Oram syndrome |
What are the treatments for Holt-Oram syndrome ? | These resources address the diagnosis or management of Holt-Oram syndrome: - Gene Review: Gene Review: Holt-Oram Syndrome - Genetic Testing Registry: Holt-Oram syndrome - MedlinePlus Encyclopedia: Atrial Septal Defect - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities - MedlinePlus Encyclopedia: Ventricular S... | Holt-Oram syndrome |
What is (are) alpha-methylacyl-CoA racemase deficiency ? | Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of ... | alpha-methylacyl-CoA racemase deficiency |
How many people are affected by alpha-methylacyl-CoA racemase deficiency ? | AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature. | alpha-methylacyl-CoA racemase deficiency |
What are the genetic changes related to alpha-methylacyl-CoA racemase deficiency ? | AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enz... | alpha-methylacyl-CoA racemase deficiency |
Is alpha-methylacyl-CoA racemase 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. | alpha-methylacyl-CoA racemase deficiency |
What are the treatments for alpha-methylacyl-CoA racemase deficiency ? | These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... | alpha-methylacyl-CoA racemase deficiency |
What is (are) cytochrome c oxidase deficiency ? | Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected indiv... | cytochrome c oxidase deficiency |
How many people are affected by cytochrome c oxidase deficiency ? | In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in 1 in 35,000 individuals. The prevalence of this condition outside this region is unknown. | cytochrome c oxidase deficiency |
What are the genetic changes related to cytochrome c oxidase deficiency ? | Cytochrome c oxidase deficiency is caused by mutations in one of at least 14 genes. In humans, most genes are found in DNA in the cell's nucleus (nuclear DNA). However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). Most cas... | cytochrome c oxidase deficiency |
Is cytochrome c oxidase deficiency inherited ? | Cytochrome c oxidase deficiency can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in genes within nuclear DNA, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individua... | cytochrome c oxidase deficiency |
What are the treatments for cytochrome c oxidase deficiency ? | These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Test... | cytochrome c oxidase deficiency |
What is (are) Costello syndrome ? | Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart ... | Costello syndrome |
How many people are affected by Costello syndrome ? | This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people. | Costello syndrome |
What are the genetic changes related to Costello syndrome ? | Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The over... | Costello syndrome |
Is Costello syndrome inherited ? | Costello syndrome is considered to be an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. | Costello syndrome |
What are the treatments for Costello syndrome ? | These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therap... | Costello syndrome |
What is (are) glycogen storage disease type IX ? | Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal funct... | glycogen storage disease type IX |
How many people are affected by glycogen storage disease type IX ? | GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown. | glycogen storage disease type IX |
What are the genetic changes related to glycogen storage disease type IX ? | Mutations in the PHKA1, PHKA2, PHKB, or PHKG2 genes are known to cause GSD IX. These genes provide instructions for making pieces (subunits) of an enzyme called phosphorylase b kinase. The enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. At least two different versions of phosp... | glycogen storage disease type IX |
Is glycogen storage disease type IX inherited ? | GSD IX can have different inheritance patterns depending on the genetic cause of the condition. When caused by mutations in the PHKA1 or PHKA2 gene, GSD IX is inherited in an X-linked recessive pattern. These genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X ... | glycogen storage disease type IX |
What are the treatments for glycogen storage disease type IX ? | These resources address the diagnosis or management of glycogen storage disease type IX: - Gene Review: Gene Review: Phosphorylase Kinase Deficiency - Genetic Testing Registry: Glycogen storage disease IXb - Genetic Testing Registry: Glycogen storage disease IXc - Genetic Testing Registry: Glycogen storage disease ... | glycogen storage disease type IX |
What is (are) cerebrotendinous xanthomatosis ? | Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty... | cerebrotendinous xanthomatosis |
How many people are affected by cerebrotendinous xanthomatosis ? | The incidence of cerebrotendinous xanthomatosis is estimated to be 3 to 5 per 100,000 people worldwide. This condition is more common in the Moroccan Jewish population with an incidence of 1 in 108 individuals. | cerebrotendinous xanthomatosis |
What are the genetic changes related to cerebrotendinous xanthomatosis ? | Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27-hydroxylase impa... | cerebrotendinous xanthomatosis |
Is cerebrotendinous xanthomatosis 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. | cerebrotendinous xanthomatosis |
What are the treatments for cerebrotendinous xanthomatosis ? | These resources address the diagnosis or management of cerebrotendinous xanthomatosis: - Gene Review: Gene Review: Cerebrotendinous Xanthomatosis - Genetic Testing Registry: Cholestanol storage disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions... | cerebrotendinous xanthomatosis |
What is (are) critical congenital heart disease ? | Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effec... | critical congenital heart disease |
How many people are affected by critical congenital heart disease ? | Heart defects are the most common type of birth defect, accounting for more than 30 percent of all infant deaths due to birth defects. CCHD represents some of the most serious types of heart defects. About 7,200 newborns, or 18 per 10,000, in the United States are diagnosed with CCHD each year. | critical congenital heart disease |
What are the genetic changes related to critical congenital heart disease ? | In most cases, the cause of CCHD is unknown. A variety of genetic and environmental factors likely contribute to this complex condition. Changes in single genes have been associated with CCHD. Studies suggest that these genes are involved in normal heart development before birth. Most of the identified mutations reduc... | critical congenital heart disease |
Is critical congenital heart disease inherited ? | Most cases of CCHD are sporadic, which means they occur in people with no history of the disorder in their family. However, close relatives (such as siblings) of people with CCHD may have an increased risk of being born with a heart defect compared with people in the general population. | critical congenital heart disease |
What are the treatments for critical congenital heart disease ? | These resources address the diagnosis or management of critical congenital heart disease: - Baby's First Test: Critical Congenital Heart Disease - Boston Children's Hospital - Centers for Disease Control and Prevention: Screening for Critical Congenital Heart Defects - Children's Hospital of Philadelphia - Cincinn... | critical congenital heart disease |
What is (are) microphthalmia with linear skin defects syndrome ? | Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths ... | microphthalmia with linear skin defects syndrome |
How many people are affected by microphthalmia with linear skin defects syndrome ? | The prevalence of microphthalmia with linear skin defects syndrome is unknown. More than 50 affected individuals have been identified. | microphthalmia with linear skin defects syndrome |
What are the genetic changes related to microphthalmia with linear skin defects syndrome ? | Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitocho... | microphthalmia with linear skin defects syndrome |
Is microphthalmia with linear skin defects syndrome 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. Some ce... | microphthalmia with linear skin defects syndrome |
What are the treatments for microphthalmia with linear skin defects syndrome ? | These resources address the diagnosis or management of microphthalmia with linear skin defects syndrome: - Gene Review: Gene Review: Microphthalmia with Linear Skin Defects Syndrome - Genetic Testing Registry: Microphthalmia, syndromic, 7 These resources from MedlinePlus offer information about the diagnosis and ma... | microphthalmia with linear skin defects syndrome |
What is (are) medium-chain acyl-CoA dehydrogenase deficiency ? | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (leth... | medium-chain acyl-CoA dehydrogenase deficiency |
How many people are affected by medium-chain acyl-CoA dehydrogenase deficiency ? | In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups. | medium-chain acyl-CoA dehydrogenase deficiency |
What are the genetic changes related to medium-chain acyl-CoA dehydrogenase deficiency ? | Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids a... | medium-chain acyl-CoA dehydrogenase deficiency |
Is medium-chain acyl-CoA dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | medium-chain acyl-CoA dehydrogenase deficiency |
What are the treatments for medium-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of MCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - Genetic Testing Registry: Medium-chain acyl-coenzyme A dehydrogenase deficiency - MedlinePlus Encyclopedia: Newborn Screening Tests These ... | medium-chain acyl-CoA dehydrogenase deficiency |
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... | branchiootorenal/branchiootic syndrome |
How many people are affected by branchiootorenal/branchiootic syndrome ? | Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. | branchiootorenal/branchiootic syndrome |
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... | branchiootorenal/branchiootic syndrome |
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... | branchiootorenal/branchiootic syndrome |
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 - ... | branchiootorenal/branchiootic syndrome |
What is (are) Weyers acrofacial dysostosis ? | Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally ... | Weyers acrofacial dysostosis |
How many people are affected by Weyers acrofacial dysostosis ? | Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide. | Weyers acrofacial dysostosis |
What are the genetic changes related to Weyers acrofacial dysostosis ? | Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell... | Weyers acrofacial dysostosis |
Is Weyers acrofacial dysostosis inherited ? | Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition. | Weyers acrofacial dysostosis |
What are the treatments for Weyers acrofacial dysostosis ? | These resources address the diagnosis or management of Weyers acrofacial dysostosis: - Genetic Testing Registry: Curry-Hall syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -... | Weyers acrofacial dysostosis |
What is (are) cleidocranial dysplasia ? | Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones (clavicles). As a resu... | cleidocranial dysplasia |
How many people are affected by cleidocranial dysplasia ? | Cleidocranial dysplasia occurs in approximately 1 per million individuals worldwide. | cleidocranial dysplasia |
What are the genetic changes related to cleidocranial dysplasia ? | The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein ... | cleidocranial dysplasia |
Is cleidocranial dysplasia inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people wi... | cleidocranial dysplasia |
What are the treatments for cleidocranial dysplasia ? | These resources address the diagnosis or management of cleidocranial dysplasia: - Gene Review: Gene Review: Cleidocranial Dysplasia - Genetic Testing Registry: Cleidocranial dysostosis - MedlinePlus Encyclopedia: Cleidocranial dysostosis These resources from MedlinePlus offer information about the diagnosis and ma... | cleidocranial dysplasia |
What is (are) Tietz syndrome ? | Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and... | Tietz syndrome |
How many people are affected by Tietz syndrome ? | Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a few affected families have been described in the medical literature. | Tietz syndrome |
What are the genetic changes related to Tietz syndrome ? | Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development, survival, and function of certain types of cells. Molecules of the MITF protein attach (bind) to each other or with other proteins that have a similar structure, creating a ... | Tietz syndrome |
Is Tietz syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. | Tietz syndrome |
What are the treatments for Tietz syndrome ? | These resources address the diagnosis or management of Tietz syndrome: - Genetic Testing Registry: Tietz syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling... | Tietz syndrome |
What is (are) Weill-Marchesani syndrome ? | Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers a... | Weill-Marchesani syndrome |
How many people are affected by Weill-Marchesani syndrome ? | Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people. | Weill-Marchesani syndrome |
What are the genetic changes related to Weill-Marchesani syndrome ? | Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton. Mut... | Weill-Marchesani syndrome |
Is Weill-Marchesani syndrome inherited ? | Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern. When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have... | Weill-Marchesani syndrome |
What are the treatments for Weill-Marchesani syndrome ? | These resources address the diagnosis or management of Weill-Marchesani syndrome: - Gene Review: Gene Review: Weill-Marchesani Syndrome - Genetic Testing Registry: Weill-Marchesani syndrome - Genetic Testing Registry: Weill-Marchesani syndrome 1 - Genetic Testing Registry: Weill-Marchesani syndrome 2 - Genetic Tes... | Weill-Marchesani syndrome |
What is (are) familial idiopathic basal ganglia calcification ? | Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement;... | familial idiopathic basal ganglia calcification |
How many people are affected by familial idiopathic basal ganglia calcification ? | FIBGC is thought to be a rare disorder; about 60 affected families have been described in the medical literature. However, because brain imaging tests are needed to recognize the calcium deposits, this condition is believed to be underdiagnosed. | familial idiopathic basal ganglia calcification |
What are the genetic changes related to familial idiopathic basal ganglia calcification ? | Mutations in the SLC20A2 gene cause nearly half of all cases of FIBGC. A small percentage of cases are caused by mutations in the PDGFRB gene. Other cases of FIBGC appear to be associated with changes in chromosomes 2, 7, 9, and 14, although specific genes have yet to be identified. These findings suggest that multiple... | familial idiopathic basal ganglia calcification |
Is familial idiopathic basal ganglia calcification inherited ? | FIBGC is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of an altered SLC20A2 or PDGFRB gene in each cell is sufficient to cause the disorder. This condition appears to follow an autosomal dominant pattern of inheritance when the genetic cause is not known. In most cases, an a... | familial idiopathic basal ganglia calcification |
What are the treatments for familial idiopathic basal ganglia calcification ? | These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Genetic Testing Registry: Basal ganglia calcification, idiopathic... | familial idiopathic basal ganglia calcification |
What is (are) monilethrix ? | Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microsco... | monilethrix |
How many people are affected by monilethrix ? | The prevalence of monilethrix is unknown. | monilethrix |
What are the genetic changes related to monilethrix ? | Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair. Hair growth occurs in the hair folli... | monilethrix |
Is monilethrix inherited ? | Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new muta... | monilethrix |
What are the treatments for monilethrix ? | These resources address the diagnosis or management of monilethrix: - Genetic Testing Registry: Beaded hair These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - P... | monilethrix |
What is (are) ovarian cancer ? | Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases... | ovarian cancer |
How many people are affected by ovarian cancer ? | Ovarian cancer affects about 12 in 100,000 women per year. | ovarian cancer |
What are the genetic changes related to ovarian cancer ? | Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and ... | ovarian cancer |
Is ovarian cancer inherited ? | Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern... | ovarian cancer |
What are the treatments for ovarian cancer ? | These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian ca... | ovarian cancer |
What is (are) Schimke immuno-osseous dysplasia ? | Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (ren... | Schimke immuno-osseous dysplasia |
How many people are affected by Schimke immuno-osseous dysplasia ? | Schimke immuno-osseous dysplasia is a very rare condition. The prevalence in North America is estimated to be one in 1 million to 3 million people. | Schimke immuno-osseous dysplasia |
What are the genetic changes related to Schimke immuno-osseous dysplasia ? | Mutations in the SMARCAL1 gene increase the risk of Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based... | Schimke immuno-osseous dysplasia |
Is Schimke immuno-osseous dysplasia inherited ? | Mutations in the SMARCAL1 gene are inherited in an autosomal recessive pattern, which means that an increased risk of Schimke immuno-osseous dysplasia results from mutations in both copies of the SMARCAL1 gene in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mu... | Schimke immuno-osseous dysplasia |
What are the treatments for Schimke immuno-osseous dysplasia ? | These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health con... | Schimke immuno-osseous dysplasia |
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