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What is (are) Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males. The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. People with this condition are born with eyeballs tha... | Lenz microphthalmia syndrome |
How many people are affected by Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide. | Lenz microphthalmia syndrome |
What are the genetic changes related to Lenz microphthalmia syndrome ? | Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. The BCOR gene provides instructions for making a protein called the BCL6 corepressor. This protein helps regulate the activity of other genes. Little i... | Lenz microphthalmia syndrome |
Is Lenz microphthalmia syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... | Lenz microphthalmia syndrome |
What are the treatments for Lenz microphthalmia syndrome ? | These resources address the diagnosis or management of Lenz microphthalmia syndrome: - Gene Review: Gene Review: Lenz Microphthalmia Syndrome - Genetic Testing Registry: Lenz microphthalmia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | Lenz microphthalmia syndrome |
What is (are) fragile XE syndrome ? | Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as a... | fragile XE syndrome |
How many people are affected by fragile XE syndrome ? | Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn males. Only a small number of affected females have been described in the medical literature. Because mildly affected individuals may never be diagnosed, it is thought that the condition may be more common than reported. | fragile XE syndrome |
What are the genetic changes related to fragile XE syndrome ? | Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved ... | fragile XE syndrome |
Is fragile XE syndrome inherited ? | Fragile XE syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder 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... | fragile XE syndrome |
What are the treatments for fragile XE syndrome ? | These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagno... | fragile XE syndrome |
What is (are) Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), a... | Pallister-Killian mosaic syndrome |
How many people are affected by Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More t... | Pallister-Killian mosaic syndrome |
What are the genetic changes related to Pallister-Killian mosaic syndrome ? | Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Is... | Pallister-Killian mosaic syndrome |
Is Pallister-Killian mosaic syndrome inherited ? | Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Affected individuals have no history of the disorder in their ... | Pallister-Killian mosaic syndrome |
What are the treatments for Pallister-Killian mosaic syndrome ? | These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism These resources from MedlinePlus offer information about the diagnosis and management of vari... | Pallister-Killian mosaic syndrome |
What is (are) erythromelalgia ? | Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also tr... | erythromelalgia |
How many people are affected by erythromelalgia ? | The prevalence of erythromelalgia is unknown. | erythromelalgia |
What are the genetic changes related to erythromelalgia ? | Mutations in the SCN9A gene can cause erythromelalgia. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit elect... | erythromelalgia |
Is erythromelalgia inherited ? | Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in p... | erythromelalgia |
What are the treatments for erythromelalgia ? | These resources address the diagnosis or management of erythromelalgia: - Gene Review: Gene Review: SCN9A-Related Inherited Erythromelalgia - Genetic Testing Registry: Primary erythromelalgia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagn... | erythromelalgia |
What is (are) SOX2 anophthalmia syndrome ? | SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body. People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). The term anophthalmia is often used interchan... | SOX2 anophthalmia syndrome |
How many people are affected by SOX2 anophthalmia syndrome ? | SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. About 10 percent to 15 percent of people with anophthalmia in both eyes have SOX2 anophthalmia syndrome. | SOX2 anophthalmia syndrome |
What are the genetic changes related to SOX2 anophthalmia syndrome ? | Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein regulates the activity of other genes, especially those that are important for... | SOX2 anophthalmia syndrome |
Is SOX2 anophthalmia syndrome inherited ? | SOX2 anophthalmia 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 SOX2 gene and occur in people with no history of the disorder in their family. In a small number of cases, peop... | SOX2 anophthalmia syndrome |
What are the treatments for SOX2 anophthalmia syndrome ? | These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about the diagnosis and man... | SOX2 anophthalmia syndrome |
What is (are) atopic dermatitis ? | Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood or does not begin until adulthood.... | atopic dermatitis |
How many people are affected by atopic dermatitis ? | Atopic dermatitis is a common disorder that affects 10 to 20 percent of children and 5 to 10 percent of adults. | atopic dermatitis |
What are the genetic changes related to atopic dermatitis ? | The genetics of atopic dermatitis are not completely understood. Studies suggest that several genes can be involved in development of the condition. The strongest association is with the FLG gene, which is mutated in 20 to 30 percent of people with atopic dermatitis compared with 8 to 10 percent of the general populati... | atopic dermatitis |
Is atopic dermatitis inherited ? | Allergic disorders tend to run in families; having a parent with atopic dermatitis, asthma, or hay fever raises the chances a person will develop atopic dermatitis. When associated with FLG gene mutations, atopic dermatitis follows an autosomal dominant inheritance pattern, which means one copy of the altered FLG gene ... | atopic dermatitis |
What are the treatments for atopic dermatitis ? | These resources address the diagnosis or management of atopic dermatitis: - American Academy of Dermatology: Atopic Dermatitis: Tips for Managing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reha... | atopic dermatitis |
What is (are) hereditary sensory and autonomic neuropathy type II ? | Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may al... | hereditary sensory and autonomic neuropathy type II |
How many people are affected by hereditary sensory and autonomic neuropathy type II ? | HSAN2 is a rare disease; however, the prevalence is unknown. | hereditary sensory and autonomic neuropathy type II |
What are the genetic changes related to hereditary sensory and autonomic neuropathy type II ? | There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B are the same. The WNK1 gene... | hereditary sensory and autonomic neuropathy type II |
Is hereditary sensory and autonomic neuropathy type II inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | hereditary sensory and autonomic neuropathy type II |
What are the treatments for hereditary sensory and autonomic neuropathy type II ? | These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resou... | hereditary sensory and autonomic neuropathy type II |
What is (are) microcephalic osteodysplastic primordial dwarfism type II ? | Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected ind... | microcephalic osteodysplastic primordial dwarfism type II |
How many people are affected by microcephalic osteodysplastic primordial dwarfism type II ? | MOPDII appears to be a rare condition, although its prevalence is unknown. | microcephalic osteodysplastic primordial dwarfism type II |
What are the genetic changes related to microcephalic osteodysplastic primordial dwarfism type II ? | Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their ... | microcephalic osteodysplastic primordial dwarfism type II |
Is microcephalic osteodysplastic primordial dwarfism type II 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. | microcephalic osteodysplastic primordial dwarfism type II |
What are the treatments for microcephalic osteodysplastic primordial dwarfism type II ? | These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | microcephalic osteodysplastic primordial dwarfism type II |
What is (are) histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histioc... | histiocytosis-lymphadenopathy plus syndrome |
How many people are affected by histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting approximately 100 individuals worldwide. | histiocytosis-lymphadenopathy plus syndrome |
What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. With chemical modification, nucleoside... | histiocytosis-lymphadenopathy plus syndrome |
Is histiocytosis-lymphadenopathy plus 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. | histiocytosis-lymphadenopathy plus syndrome |
What are the treatments for histiocytosis-lymphadenopathy plus syndrome ? | These resources address the diagnosis or management of histiocytosis-lymphadenopathy plus syndrome: - Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T... | histiocytosis-lymphadenopathy plus syndrome |
What is (are) 21-hydroxylase deficiency ? | 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are ... | 21-hydroxylase deficiency |
How many people are affected by 21-hydroxylase deficiency ? | The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. 21-hydroxylase deficiency is one o... | 21-hydroxylase deficiency |
What are the genetic changes related to 21-hydroxylase deficiency ? | Mutations in the CYP21A2 gene cause 21-hydroxylase deficiency. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. Cortisol has numerous functions, such as maintaining ... | 21-hydroxylase deficiency |
Is 21-hydroxylase 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. | 21-hydroxylase deficiency |
What are the treatments for 21-hydroxylase deficiency ? | These resources address the diagnosis or management of 21-hydroxylase deficiency: - Baby's First Test - CARES Foundation: Treatment - Gene Review: Gene Review: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Genetic Testing Registry: 21-hydroxylase deficiency - MedlinePlus Encyclopedia: Congenital Adrena... | 21-hydroxylase deficiency |
What is (are) mycosis fungoides ? | Mycosis fungoides is the most common form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. Although the skin is involve... | mycosis fungoides |
How many people are affected by mycosis fungoides ? | Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown reasons, mycosis fungoides affects males nearly twice as often as females. In the United States, there are an estimated 3.6 cases per million people each year. The c... | mycosis fungoides |
What are the genetic changes related to mycosis fungoides ? | The cause of mycosis fungoides is unknown. Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. These abnormalities occur during a person's lifetime and are found only in the DNA of cancerous cells. Abnormalities have been found on most chromosomes, but som... | mycosis fungoides |
Is mycosis fungoides inherited ? | The inheritance pattern of mycosis fungoides has not been determined. Although the condition has been found in multiple members of more than a dozen families, it most often occurs in people with no history of the disorder in their family and is typically not inherited. | mycosis fungoides |
What are the treatments for mycosis fungoides ? | These resources address the diagnosis or management of mycosis fungoides: - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma - Genetic Testing Registry: Mycosis fungoides - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Options - National Cancer Institute: Mycosis Fungoides and the Sz... | mycosis fungoides |
What is (are) essential pentosuria ? | Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. | essential pentosuria |
How many people are affected by essential pentosuria ? | Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. | essential pentosuria |
What are the genetic changes related to essential pentosuria ? | Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xy... | essential pentosuria |
Is essential pentosuria 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. | essential pentosuria |
What are the treatments for essential pentosuria ? | These resources address the diagnosis or management of essential pentosuria: - Genetic Testing Registry: Essential pentosuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... | essential pentosuria |
What is (are) Wolfram syndrome ? | Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the br... | Wolfram syndrome |
How many people are affected by Wolfram syndrome ? | The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. | Wolfram syndrome |
What are the genetic changes related to Wolfram syndrome ? | Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. This gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell... | Wolfram syndrome |
Is Wolfram syndrome inherited ? | When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show si... | Wolfram syndrome |
What are the treatments for Wolfram syndrome ? | These resources address the diagnosis or management of Wolfram syndrome: - Gene Review: Gene Review: WFS1-Related Disorders - Genetic Testing Registry: Diabetes mellitus AND insipidus with optic atrophy AND deafness - Genetic Testing Registry: Wolfram syndrome 2 - Johns Hopkins Medicine: Diabetes Insipidus - Medli... | Wolfram syndrome |
What is (are) familial hypobetalipoproteinemia ? | Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affec... | familial hypobetalipoproteinemia |
How many people are affected by familial hypobetalipoproteinemia ? | FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. | familial hypobetalipoproteinemia |
What are the genetic changes related to familial hypobetalipoproteinemia ? | Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats... | familial hypobetalipoproteinemia |
Is familial hypobetalipoproteinemia inherited ? | This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cau... | familial hypobetalipoproteinemia |
What are the treatments for familial hypobetalipoproteinemia ? | These resources address the diagnosis or management of familial hypobetalipoproteinemia: - Genetic Testing Registry: Familial hypobetalipoproteinemia - Genetic Testing Registry: Hypobetalipoproteinemia, familial, 2 These resources from MedlinePlus offer information about the diagnosis and management of various heal... | familial hypobetalipoproteinemia |
What is (are) proopiomelanocortin deficiency ? | Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they a... | proopiomelanocortin deficiency |
How many people are affected by proopiomelanocortin deficiency ? | POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. | proopiomelanocortin deficiency |
What are the genetic changes related to proopiomelanocortin deficiency ? | POMC deficiency is caused by mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein. This protein is cut (cleaved) into smaller pieces called peptides that have different functions in the body. One of these peptides, ACTH, stimulates the release of another hormone called cort... | proopiomelanocortin deficiency |
Is proopiomelanocortin deficiency inherited ? | POMC deficiency 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 this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity. | proopiomelanocortin deficiency |
What are the treatments for proopiomelanocortin deficiency ? | These resources address the diagnosis or management of proopiomelanocortin deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed? - Gene Review: Gene Review: Proopiomelanocortin Deficiency - Genetic Testing Registry: Proopiomelanocorti... | proopiomelanocortin deficiency |
What is (are) fragile X-associated tremor/ataxia syndrome ? | Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected in... | fragile X-associated tremor/ataxia syndrome |
How many people are affected by fragile X-associated tremor/ataxia syndrome ? | Studies show that approximately 1 in 450 males has the genetic change that leads to FXTAS, although the condition occurs in only about 40 percent of them. It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 females has the genetic change, but only an estimated 16 percent of them develop sig... | fragile X-associated tremor/ataxia syndrome |
What are the genetic changes related to fragile X-associated tremor/ataxia syndrome ? | Mutations in the FMR1 gene increase the risk of developing FXTAS. The FMR1 gene provides instructions for making a protein called FMRP, which helps regulate the production of other proteins. FMRP plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical fo... | fragile X-associated tremor/ataxia syndrome |
Is fragile X-associated tremor/ataxia syndrome inherited ? | An increased risk of developing FXTAS is inherited in an X-linked dominant pattern. The FMR1 gene is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant because one copy of the altered gene in each cell is sufficient to elevate the ris... | fragile X-associated tremor/ataxia syndrome |
What are the treatments for fragile X-associated tremor/ataxia syndrome ? | These resources address the diagnosis or management of FXTAS: - Fragile X Research Foundation of Canada: FXTAS - Gene Review: Gene Review: FMR1-Related Disorders - Genetic Testing Registry: Fragile X tremor/ataxia syndrome - Merck Manual Consumer Version These resources from MedlinePlus offer information about th... | fragile X-associated tremor/ataxia syndrome |
What is (are) X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In most infants with X-linked chondrodysplasia punctata 1, this s... | X-linked chondrodysplasia punctata 1 |
How many people are affected by X-linked chondrodysplasia punctata 1 ? | The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature. | X-linked chondrodysplasia punctata 1 |
What are the genetic changes related to X-linked chondrodysplasia punctata 1 ? | X-linked chondrodysplasia punctata 1 is caused by genetic changes involving the ARSE gene. This gene provides instructions for making an enzyme called arylsulfatase E. The function of this enzyme is unknown, although it appears to be important for normal skeletal development and is thought to participate in a chemical ... | X-linked chondrodysplasia punctata 1 |
Is X-linked chondrodysplasia punctata 1 inherited ? | This condition 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 ARSE gene in each cell is sufficient to cause the condition. In females (who h... | X-linked chondrodysplasia punctata 1 |
What are the treatments for X-linked chondrodysplasia punctata 1 ? | These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources from MedlinePlus offer information about the diagnosis and manage... | X-linked chondrodysplasia punctata 1 |
What is (are) hereditary multiple osteochondromas ? | Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 ... | hereditary multiple osteochondromas |
How many people are affected by hereditary multiple osteochondromas ? | The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada. | hereditary multiple osteochondromas |
What are the genetic changes related to hereditary multiple osteochondromas ? | Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, whi... | hereditary multiple osteochondromas |
Is hereditary multiple osteochondromas 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 multiple osteochondromas |
What are the treatments for hereditary multiple osteochondromas ? | These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exostoses type 2 These resources from MedlinePlus offer informat... | hereditary multiple osteochondromas |
What is (are) infantile neuronal ceroid lipofuscinosis ? | Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurren... | infantile neuronal ceroid lipofuscinosis |
How many people are affected by infantile neuronal ceroid lipofuscinosis ? | The incidence of 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. | infantile neuronal ceroid lipofuscinosis |
What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ? | Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes cer... | infantile neuronal ceroid lipofuscinosis |
Is 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. | infantile neuronal ceroid lipofuscinosis |
What are the treatments for infantile neuronal ceroid lipofuscinosis ? | These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis: - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 - Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis These resources from MedlinePlus offer information about the diagnosis and management of ... | infantile neuronal ceroid lipofuscinosis |
What is (are) head and neck squamous cell carcinoma ? | Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in ... | head and neck squamous cell carcinoma |
How many people are affected by head and neck squamous cell carcinoma ? | HNSCC is the seventh most common cancer worldwide. Approximately 600,000 new cases are diagnosed each year, including about 50,000 in the United States. HNSCC occurs most often in men in their 50s or 60s, although the incidence among younger individuals is increasing. | head and neck squamous cell carcinoma |
What are the genetic changes related to head and neck squamous cell carcinoma ? | HNSCC is caused by a variety of factors that can alter the DNA in cells. The strongest risk factors for developing this form of cancer are tobacco use (including smoking or using chewing tobacco) and heavy alcohol consumption. In addition, studies have shown that infection with certain strains of human papillomavirus (... | head and neck squamous cell carcinoma |
Is head and neck squamous cell carcinoma inherited ? | HNSCC is generally not inherited; it typically arises from mutations in the body's cells that occur during an individual's lifetime. This type of alteration is called a somatic mutation. Rarely, HNSCC is found in several members of a family. These families have inherited disorders that increase the risk of multiple ty... | head and neck squamous cell carcinoma |
What are the treatments for head and neck squamous cell carcinoma ? | These resources address the diagnosis or management of head and neck squamous cell carcinoma: - Cancer.Net: Head and Neck Cancer: Treatment Options - National Cancer Institute: Head and Neck Cancers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: ... | head and neck squamous cell carcinoma |
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