problem stringlengths 16 191 | explanation stringlengths 6 29k ⌀ | type stringlengths 3 136 ⌀ |
|---|---|---|
What is (are) familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (th... | familial hypertrophic cardiomyopathy |
How many people are affected by familial hypertrophic cardiomyopathy ? | Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. | familial hypertrophic cardiomyopathy |
What are the genetic changes related to familial hypertrophic cardiomyopathy ? | Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition. The proteins produced from the genes associated with familial hypertr... | familial hypertrophic cardiomyopathy |
Is familial hypertrophic 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. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition. | familial hypertrophic cardiomyopathy |
What are the treatments for familial hypertrophic cardiomyopathy ? | These resources address the diagnosis or management of familial hypertrophic cardiomyopathy: - Cleveland Clinic - Gene Review: Gene Review: Hypertrophic Cardiomyopathy Overview - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 1 - Genetic Testing Registry: Familial hypertrophic cardiomyopathy 2 - Ge... | familial hypertrophic cardiomyopathy |
What is (are) Muckle-Wells syndrome ? | Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to ari... | Muckle-Wells syndrome |
How many people are affected by Muckle-Wells syndrome ? | Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown. | Muckle-Wells syndrome |
What are the genetic changes related to Muckle-Wells syndrome ? | Mutations in the NLRP3 gene (also known as CIAS1) cause Muckle-Wells syndrome. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin belongs to a family of proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins. These proteins are involved in the imm... | Muckle-Wells syndrome |
Is Muckle-Wells syndrome inherited ? | This condition is usually 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, the inheritance pattern is unknown. | Muckle-Wells syndrome |
What are the treatments for Muckle-Wells syndrome ? | These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy -... | Muckle-Wells syndrome |
What is (are) van der Woude syndrome ? | Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to th... | van der Woude syndrome |
How many people are affected by van der Woude syndrome ? | Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases. | van der Woude syndrome |
What are the genetic changes related to van der Woude syndrome ? | Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.... | van der Woude syndrome |
Is van der Woude 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. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms... | van der Woude syndrome |
What are the treatments for van der Woude syndrome ? | These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... | van der Woude syndrome |
What is (are) common variable immune deficiency ? | Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people ... | common variable immune deficiency |
How many people are affected by common variable immune deficiency ? | CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations. | common variable immune deficiency |
What are the genetic changes related to common variable immune deficiency ? | CVID is believed to result from mutations in genes that are involved in the development and function of immune system cells called B cells. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (also known as immunogl... | common variable immune deficiency |
Is common variable immune deficiency inherited ? | Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors. In some families, CVID is inherited in an autosomal recessive pattern, which means both copies of a gene in each cel... | common variable immune deficiency |
What are the treatments for common variable immune deficiency ? | These resources address the diagnosis or management of common variable immune deficiency: - Genetic Testing Registry: Common variable immunodeficiency 10 - Genetic Testing Registry: Common variable immunodeficiency 11 - Genetic Testing Registry: Common variable immunodeficiency 2 - Genetic Testing Registry: Common ... | common variable immune deficiency |
What is (are) Farber lipogranulomatosis ? | Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoars... | Farber lipogranulomatosis |
How many people are affected by Farber lipogranulomatosis ? | Farber lipogranulomatosis is a rare disorder. About 80 cases have been reported worldwide. | Farber lipogranulomatosis |
What are the genetic changes related to Farber lipogranulomatosis ? | Mutations in the ASAH1 gene cause Farber lipogranulomatosis. The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials. Acid ceramidase breaks down fats called ceramides into a fat called sphingosine a... | Farber lipogranulomatosis |
Is Farber lipogranulomatosis 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. | Farber lipogranulomatosis |
What are the treatments for Farber lipogranulomatosis ? | These resources address the diagnosis or management of Farber lipogranulomatosis: - Genetic Testing Registry: Farber's lipogranulomatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitati... | Farber lipogranulomatosis |
What is (are) sialic acid storage disease ? | Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and ... | sialic acid storage disease |
How many people are affected by sialic acid storage disease ? | Sialic acid storage disease is a very rare disorder. ISSD has been identified in only a few dozen infants worldwide. Salla disease occurs mainly in Finland and Sweden and has been reported in approximately 150 people. A few individuals have been identified as having intermediate severe Salla disease. | sialic acid storage disease |
What are the genetic changes related to sialic acid storage disease ? | Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is ... | sialic acid storage disease |
Is sialic acid storage disease 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. | sialic acid storage disease |
What are the treatments for sialic acid storage disease ? | These resources address the diagnosis or management of sialic acid storage disease: - Gene Review: Gene Review: Free Sialic Acid Storage Disorders - Genetic Testing Registry: Salla disease - Genetic Testing Registry: Sialic acid storage disease, severe infantile type These resources from MedlinePlus offer informat... | sialic acid storage disease |
What is (are) Smith-Magenis syndrome ? | Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syn... | Smith-Magenis syndrome |
How many people are affected by Smith-Magenis syndrome ? | Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. Researchers believe that many people with this condition are not diagnosed, however, so the true prevalence may be closer to 1 in 15,000 individuals. | Smith-Magenis syndrome |
What are the genetic changes related to Smith-Magenis syndrome ? | Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of this condition. The lo... | Smith-Magenis syndrome |
Is Smith-Magenis syndrome inherited ? | Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family. | Smith-Magenis syndrome |
What are the treatments for Smith-Magenis syndrome ? | These resources address the diagnosis or management of Smith-Magenis syndrome: - Gene Review: Gene Review: Smith-Magenis Syndrome - Genetic Testing Registry: Smith-Magenis syndrome - MedlinePlus Encyclopedia: Intellectual Disability These resources from MedlinePlus offer information about the diagnosis and managem... | Smith-Magenis syndrome |
What is (are) vitelliform macular dystrophy ? | Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the mac... | vitelliform macular dystrophy |
How many people are affected by vitelliform macular dystrophy ? | Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. | vitelliform macular dystrophy |
What are the genetic changes related to vitelliform macular dystrophy ? | Mutations in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 mutations are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a q... | vitelliform macular dystrophy |
Is vitelliform macular dystrophy inherited ? | Best disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. The inheritance pattern of adult-onset vitelliform macular dystrophy is uncertain. Some studies hav... | vitelliform macular dystrophy |
What are the treatments for vitelliform macular dystrophy ? | These resources address the diagnosis or management of vitelliform macular dystrophy: - Gene Review: Gene Review: Best Vitelliform Macular Dystrophy - Genetic Testing Registry: Macular dystrophy, vitelliform, adult-onset - Genetic Testing Registry: Vitelliform dystrophy - MedlinePlus Encyclopedia: Macula (image) ... | vitelliform macular dystrophy |
What is (are) isolated growth hormone deficiency ? | Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experi... | isolated growth hormone deficiency |
How many people are affected by isolated growth hormone deficiency ? | The incidence of isolated growth hormone deficiency is estimated to be 1 in 4,000 to 10,000 individuals worldwide. | isolated growth hormone deficiency |
What are the genetic changes related to isolated growth hormone deficiency ? | Isolated growth hormone deficiency is caused by mutations in one of at least three genes. Isolated growth hormone deficiency types IA and II are caused by mutations in the GH1 gene. Type IB is caused by mutations in either the GH1 or GHRHR gene. Type III is caused by mutations in the BTK gene. The GH1 gene provides in... | isolated growth hormone deficiency |
Is isolated growth hormone deficiency inherited ? | Isolated growth hormone deficiency can have different inheritance patterns depending on the type of the condition. Isolated growth hormone deficiency types IA and IB are inherited in an autosomal recessive pattern, which means both copies of the GH1 or GHRHR gene in each cell have mutations. The parents of an individu... | isolated growth hormone deficiency |
What are the treatments for isolated growth hormone deficiency ? | These resources address the diagnosis or management of isolated growth hormone deficiency: - Genetic Testing Registry: Ateleiotic dwarfism - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency - Genetic Testing Registry: Isolated growth hormone deficiency type 1B - Genetic Testing Registry... | isolated growth hormone deficiency |
What is (are) UV-sensitive syndrome ? | UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of sk... | UV-sensitive syndrome |
How many people are affected by UV-sensitive syndrome ? | UV-sensitive syndrome appears to be a rare condition; only a small number of affected individuals have been reported in the scientific literature. However, this condition may be underdiagnosed. | UV-sensitive syndrome |
What are the genetic changes related to UV-sensitive syndrome ? | UV-sensitive syndrome can result from mutations in the ERCC6 gene (also known as the CSB gene), the ERCC8 gene (also known as the CSA gene), or the UVSSA gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemica... | UV-sensitive syndrome |
Is UV-sensitive 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. | UV-sensitive syndrome |
What are the treatments for UV-sensitive syndrome ? | These resources address the diagnosis or management of UV-sensitive syndrome: - Genetic Testing Registry: UV-sensitive syndrome - Genetic Testing Registry: UV-sensitive syndrome 2 - Genetic Testing Registry: UV-sensitive syndrome 3 - Merck Manual Home Health Edition: Sunburn - World Health Organization: Sun Protec... | UV-sensitive syndrome |
What is (are) activated PI3K-delta syndrome ? | Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginn... | activated PI3K-delta syndrome |
How many people are affected by activated PI3K-delta syndrome ? | The prevalence of activated PI3K-delta syndrome is unknown. | activated PI3K-delta syndrome |
What are the genetic changes related to activated PI3K-delta syndrome ? | Activated PI3K-delta syndrome is caused by mutations in the PIK3CD gene, which provides instructions for making a protein called p110 delta (p110). This protein is one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which turns on signaling pathways within cells. The version of PI3K containing... | activated PI3K-delta syndrome |
Is activated PI3K-delta 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. | activated PI3K-delta syndrome |
What are the treatments for activated PI3K-delta syndrome ? | These resources address the diagnosis or management of activated PI3K-delta syndrome: - Genetic Testing Registry: Activated PI3K-delta syndrome - National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking To Your Doctor These resources from MedlinePlus offer information about... | activated PI3K-delta syndrome |
What is (are) Zellweger spectrum disorder ? | Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are n... | Zellweger spectrum disorder |
How many people are affected by Zellweger spectrum disorder ? | Zellweger spectrum disorder is estimated to occur in 1 in 50,000 individuals. | Zellweger spectrum disorder |
What are the genetic changes related to Zellweger spectrum disorder ? | Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain e... | Zellweger spectrum disorder |
Is Zellweger spectrum disorder 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. | Zellweger spectrum disorder |
What are the treatments for Zellweger spectrum disorder ? | These resources address the diagnosis or management of Zellweger spectrum disorder: - Gene Review: Gene Review: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum - Genetic Testing Registry: Infantile Refsum's disease - Genetic Testing Registry: Neonatal adrenoleucodystrophy - Genetic Testing Registry: Pe... | Zellweger spectrum disorder |
What is (are) benign familial neonatal seizures ? | Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with th... | benign familial neonatal seizures |
How many people are affected by benign familial neonatal seizures ? | Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns. | benign familial neonatal seizures |
What are the genetic changes related to benign familial neonatal seizures ? | Mutations in two genes, KCNQ2 and KCNQ3, have been found to cause BFNS. Mutations in the KCNQ2 gene are a much more common cause of the condition than mutations in the KCNQ3 gene. The KCNQ2 and KCNQ3 genes provide instructions for making proteins that interact to form potassium channels. Potassium channels, which tran... | benign familial neonatal seizures |
Is benign familial neonatal seizures inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few cases result from new mutations in the KCNQ2 gene. These cases occur in people ... | benign familial neonatal seizures |
What are the treatments for benign familial neonatal seizures ? | These resources address the diagnosis or management of BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign f... | benign familial neonatal seizures |
What is (are) spastic paraplegia type 3A ? | Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types in... | spastic paraplegia type 3A |
How many people are affected by spastic paraplegia type 3A ? | Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraple... | spastic paraplegia type 3A |
What are the genetic changes related to spastic paraplegia type 3A ? | Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts... | spastic paraplegia type 3A |
Is spastic paraplegia type 3A inherited ? | Spastic paraplegia type 3A 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 approximately 95 percent of cases, an affected person inherits the mutation from one affected parent. | spastic paraplegia type 3A |
What are the treatments for spastic paraplegia type 3A ? | These resources address the diagnosis or management of spastic paraplegia type 3A: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: Spastic Paraplegia 3A - Genetic Testing Registry: Spastic paraplegia 3 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies T... | spastic paraplegia type 3A |
What is (are) hereditary sensory and autonomic neuropathy type IE ? | Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that affects the nervous system. Affected individuals have a gradual loss of intellectual function (dementia), typically beginning in their thirties. In some people with this disorder, changes in personality become apparent before problems with... | hereditary sensory and autonomic neuropathy type IE |
How many people are affected by hereditary sensory and autonomic neuropathy type IE ? | HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of affected families have been identified in populations around the world. | hereditary sensory and autonomic neuropathy type IE |
What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ? | HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular,... | hereditary sensory and autonomic neuropathy type IE |
Is hereditary sensory and autonomic neuropathy type IE 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. | hereditary sensory and autonomic neuropathy type IE |
What are the treatments for hereditary sensory and autonomic neuropathy type IE ? | These resources address the diagnosis or management of hereditary sensory and autonomic neuropathy type IE: - Gene Review: Gene Review: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - University of Chicago: Center for Peripheral Neuropathy These resources from MedlinePlus offer information about the diag... | hereditary sensory and autonomic neuropathy type IE |
What is (are) multiple pterygium syndrome ? | Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis)... | multiple pterygium syndrome |
How many people are affected by multiple pterygium syndrome ? | The prevalence of multiple pterygium syndrome is unknown. | multiple pterygium syndrome |
What are the genetic changes related to multiple pterygium syndrome ? | Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. The CHRNG gene provides instructions for making the gamma () protein component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is fo... | multiple pterygium syndrome |
Is multiple pterygium 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. | multiple pterygium syndrome |
What are the treatments for multiple pterygium syndrome ? | These resources address the diagnosis or management of multiple pterygium syndrome: - Genetic Testing Registry: Lethal multiple pterygium syndrome - Genetic Testing Registry: Multiple pterygium syndrome Escobar type These resources from MedlinePlus offer information about the diagnosis and management of various hea... | multiple pterygium syndrome |
What is (are) Fukuyama congenital muscular dystrophy ? | Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life. Fukuyama congenital muscular dystrophy affects the s... | Fukuyama congenital muscular dystrophy |
How many people are affected by Fukuyama congenital muscular dystrophy ? | Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, where it is the second most common form of childhood muscular dystrophy (after Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an estimated incidence of 2 to 4 per 100,000 Japanese infants. | Fukuyama congenital muscular dystrophy |
What are the genetic changes related to Fukuyama congenital muscular dystrophy ? | Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha ()-dystroglycan. This protein anchors cells to ... | Fukuyama congenital muscular dystrophy |
Is Fukuyama congenital muscular dystrophy 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. | Fukuyama congenital muscular dystrophy |
What are the treatments for Fukuyama congenital muscular dystrophy ? | These resources address the diagnosis or management of Fukuyama congenital muscular dystrophy: - Gene Review: Gene Review: Congenital Muscular Dystrophy Overview - Gene Review: Gene Review: Fukuyama Congenital Muscular Dystrophy - Genetic Testing Registry: Fukuyama congenital muscular dystrophy - MedlinePlus Encycl... | Fukuyama congenital muscular dystrophy |
What is (are) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, commonly known as PLOSL, is a progressive disorder that affects the bones and brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes specific c... | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
How many people are affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be l... | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue ... | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 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. | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
What are the treatments for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | These resources address the diagnosis or management of PLOSL: - Gene Review: Gene Review: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) - Genetic Testing Registry: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - MedlinePlus Encyclopedia: Dementia ... | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
What is (are) Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a sma... | Aarskog-Scott syndrome |
How many people are affected by Aarskog-Scott syndrome ? | Aarskog-Scott syndrome is believed to be a rare disorder; however, its prevalence is unknown because mildly affected people are often not diagnosed. | Aarskog-Scott syndrome |
What are the genetic changes related to Aarskog-Scott syndrome ? | Mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development. Mutations in the FGD1 gene lead to the product... | Aarskog-Scott syndrome |
Is Aarskog-Scott syndrome inherited ? | Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (wh... | Aarskog-Scott syndrome |
What are the treatments for Aarskog-Scott syndrome ? | These resources address the diagnosis or management of Aarskog-Scott syndrome: - Genetic Testing Registry: Aarskog syndrome - MedlinePlus Encyclopedia: Aarskog syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug The... | Aarskog-Scott syndrome |
What is (are) Li-Fraumeni syndrome ? | Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as mu... | Li-Fraumeni syndrome |
How many people are affected by Li-Fraumeni syndrome ? | The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder. | Li-Fraumeni syndrome |
What are the genetic changes related to Li-Fraumeni syndrome ? | The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to ... | Li-Fraumeni syndrome |
Is Li-Fraumeni syndrome inherited ? | Li-Fraumeni 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 cancer. In most cases, an affected person has a parent and other family members with cancers characteristic of the condition. | Li-Fraumeni syndrome |
What are the treatments for Li-Fraumeni syndrome ? | These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - ... | Li-Fraumeni syndrome |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.