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genetic changes | What are the genetic changes related to Cole disease ? | Cole disease is caused by mutations in the ENPP1 gene. This gene provides instructions for making a protein that helps to prevent minerals, including calcium, from being deposited in body tissues where they do not belong. It also plays a role in controlling cell signaling in response to the hormone insulin, through int... |
inheritance | Is Cole disease 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 of this disorder, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in peop... |
treatment | What are the treatments for Cole disease ? | These resources address the diagnosis or management of Cole disease: - Genetic Testing Registry: Cole disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling -... |
information | What is (are) congenital central hypoventilation syndrome ? | Congenital central hypoventilation syndrome (CCHS) is a disorder that affects breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Ordinarily, the part of the nervous system that controls invol... |
frequency | How many people are affected by congenital central hypoventilation syndrome ? | CCHS is a relatively rare disorder. Approximately 1,000 individuals with this condition have been identified. Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. |
genetic changes | What are the genetic changes related to congenital central hypoventilation syndrome ? | Mutations in the PHOX2B gene cause CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the n... |
inheritance | Is congenital central hypoventilation 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. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occas... |
treatment | What are the treatments for congenital central hypoventilation syndrome ? | These resources address the diagnosis or management of CCHS: - Gene Review: Gene Review: Congenital Central Hypoventilation Syndrome - Genetic Testing Registry: Congenital central hypoventilation - MedlinePlus Encyclopedia: Hirschsprung's Disease These resources from MedlinePlus offer information about the diagnos... |
information | What is (are) Aicardi syndrome ? | Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus... |
frequency | How many people are affected by Aicardi syndrome ? | Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide. |
genetic changes | What are the genetic changes related to Aicardi syndrome ? | The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because the... |
inheritance | Is Aicardi syndrome inherited ? | Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition. While... |
treatment | What are the treatments for Aicardi syndrome ? | These resources address the diagnosis or management of Aicardi syndrome: - Baylor College of Medicine - Gene Review: Gene Review: Aicardi Syndrome - Genetic Testing Registry: Aicardi's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Di... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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 ... |
information | What is (are) hereditary hemochromatosis ? | Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage... |
frequency | How many people are affected by hereditary hemochromatosis ? | Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people. It most often affects people of Northern European descent. The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide. |
genetic changes | What are the genetic changes related to hereditary hemochromatosis ? | Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC4... |
inheritance | Is hereditary hemochromatosis inherited ? | Types 1, 2, and 3 hemochromatosis are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition. ... |
treatment | What are the treatments for hereditary hemochromatosis ? | These resources address the diagnosis or management of hereditary hemochromatosis: - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis - GeneFacts: Hereditary Hemochr... |
information | What is (are) incontinentia pigmenti ? | Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering ras... |
frequency | How many people are affected by incontinentia pigmenti ? | Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified. |
genetic changes | What are the genetic changes related to incontinentia pigmenti ? | Mutations in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals. Abo... |
inheritance | Is incontinentia pigmenti 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... |
treatment | What are the treatments for incontinentia pigmenti ? | These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti Syndrome These resources from MedlinePlus offer information about the diag... |
information | What is (are) Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature. The condition is apparent from birth, and its key features include abnormal curvatur... |
frequency | How many people are affected by Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is a rare condition that has been found worldwide. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to Stve-Wiedemann syndrome ? | Stve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their ... |
inheritance | Is Stve-Wiedemann 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. |
treatment | What are the treatments for Stve-Wiedemann syndrome ? | These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -... |
information | What is (are) autoimmune lymphoproliferative syndrome ? | Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in en... |
frequency | How many people are affected by autoimmune lymphoproliferative syndrome ? | ALPS is a rare disorder; its prevalence is unknown. More than 200 affected individuals have been identified worldwide. |
genetic changes | What are the genetic changes related to autoimmune lymphoproliferative syndrome ? | Mutations in the FAS gene cause ALPS in approximately 75 percent of affected individuals. The FAS gene provides instructions for making a protein involved in cell signaling that results in the self-destruction of cells (apoptosis). When the immune system is turned on (activated) to fight an infection, large numbers of... |
inheritance | Is autoimmune lymphoproliferative syndrome inherited ? | In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected pa... |
treatment | What are the treatments for autoimmune lymphoproliferative syndrome ? | These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome type 1, autosomal recessive - Genetic Testing Regis... |
information | 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... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) spastic paraplegia type 31 ? | Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle m... |
frequency | How many people are affected by spastic paraplegia type 31 ? | Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraple... |
genetic changes | What are the genetic changes related to spastic paraplegia type 31 ? | Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are t... |
inheritance | Is spastic paraplegia type 31 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. |
treatment | What are the treatments for spastic paraplegia type 31 ? | These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlu... |
information | 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 ... |
frequency | 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. |
genetic changes | 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... |
inheritance | 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... |
treatment | 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... |
information | What is (are) dystrophic epidermolysis bullosa ? | Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The sign... |
frequency | How many people are affected by dystrophic epidermolysis bullosa ? | Considered together, the incidence of all types of dystrophic epidermolysis bullosa is estimated to be 6.5 per million newborns in the United States. The severe autosomal recessive forms of this disorder affect fewer than 1 per million newborns. |
genetic changes | What are the genetic changes related to dystrophic epidermolysis bullosa ? | Mutations in the COL7A1 gene cause all three major forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that is used to assemble type VII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout ... |
inheritance | Is dystrophic epidermolysis bullosa inherited ? | The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the muta... |
treatment | What are the treatments for dystrophic epidermolysis bullosa ? | These resources address the diagnosis or management of dystrophic epidermolysis bullosa: - Gene Review: Gene Review: Dystrophic Epidermolysis Bullosa - Genetic Testing Registry: Dystrophic epidermolysis bullosa - Genetic Testing Registry: Generalized dominant dystrophic epidermolysis bullosa - Genetic Testing Regis... |
information | What is (are) Leber congenital amaurosis ? | Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen v... |
frequency | How many people are affected by Leber congenital amaurosis ? | Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one of the most common causes of blindness in children. |
genetic changes | What are the genetic changes related to Leber congenital amaurosis ? | Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detec... |
inheritance | Is Leber congenital amaurosis inherited ? | Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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 sign... |
treatment | What are the treatments for Leber congenital amaurosis ? | These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 - Genetic Testing Registry: Leber congenital amaurosis 12 - Ge... |
information | What is (are) aniridia ? | Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Peop... |
frequency | How many people are affected by aniridia ? | Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. |
genetic changes | What are the genetic changes related to aniridia ? | Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of ... |
inheritance | Is aniridia inherited ? | Aniridia 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 two-thirds of cases, an affected person inherits the mutation from one affected parent. The remaining one-third of cases result from new mutations in the g... |
treatment | What are the treatments for aniridia ? | These resources address the diagnosis or management of aniridia: - Gene Review: Gene Review: Aniridia - Genetic Testing Registry: Congenital aniridia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and... |
information | What is (are) Pelizaeus-Merzbacher disease ? | Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the effi... |
frequency | How many people are affected by Pelizaeus-Merzbacher disease ? | The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 males in the United States. This condition rarely affects females. |
genetic changes | What are the genetic changes related to Pelizaeus-Merzbacher disease ? | Mutations in the PLP1 gene cause Pelizaeus-Merzbacher disease. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins foun... |
inheritance | Is Pelizaeus-Merzbacher disease inherited ? | This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 co... |
treatment | What are the treatments for Pelizaeus-Merzbacher disease ? | These resources address the diagnosis or management of Pelizaeus-Merzbacher disease: - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Pelizaeus-Merzbacher disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
information | What is (are) mucolipidosis type IV ? | Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV. Approximately 95 percent of individuals with this condit... |
frequency | How many people are affected by mucolipidosis type IV ? | Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry. |
genetic changes | What are the genetic changes related to mucolipidosis type IV ? | Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolip... |
inheritance | Is mucolipidosis type IV 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. |
treatment | What are the treatments for mucolipidosis type IV ? | These resources address the diagnosis or management of mucolipidosis type IV: - Gene Review: Gene Review: Mucolipidosis IV - Genetic Testing Registry: Ganglioside sialidase deficiency - MedlinePlus Encyclopedia: Gastrin These resources from MedlinePlus offer information about the diagnosis and management of variou... |
information | What is (are) thrombocytopenia-absent radius syndrome ? | Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm. Affected individuals also have a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less s... |
frequency | How many people are affected by thrombocytopenia-absent radius syndrome ? | TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to thrombocytopenia-absent radius syndrome ? | Mutations in the RBM8A gene cause TAR syndrome. The RBM8A gene provides instructions for making a protein called RNA-binding motif protein 8A. This protein is believed to be involved in several important cellular functions involving the production of other proteins. Most people with TAR syndrome have a mutation in one... |
inheritance | Is thrombocytopenia-absent radius syndrome inherited ? | TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chrom... |
treatment | What are the treatments for thrombocytopenia-absent radius syndrome ? | These resources address the diagnosis or management of TAR syndrome: - Gene Review: Gene Review: Thrombocytopenia Absent Radius Syndrome - Genetic Testing Registry: Radial aplasia-thrombocytopenia syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information ab... |
information | 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)... |
frequency | How many people are affected by multiple pterygium syndrome ? | The prevalence of multiple pterygium syndrome is unknown. |
genetic changes | 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... |
inheritance | 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. |
treatment | 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... |
information | What is (are) hereditary diffuse gastric cancer ? | Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thic... |
frequency | How many people are affected by hereditary diffuse gastric cancer ? | Gastric cancer is the fourth most common form of cancer worldwide, affecting 900,000 people per year. HDGC probably accounts for less than 1 percent of these cases. |
genetic changes | What are the genetic changes related to hereditary diffuse gastric cancer ? | It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavit... |
inheritance | Is hereditary diffuse gastric cancer inherited ? | HDGC is inherited in an autosomal dominant pattern, which means one copy of the altered CDH1 gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition. |
treatment | What are the treatments for hereditary diffuse gastric cancer ? | These resources address the diagnosis or management of hereditary diffuse gastric cancer: - American Cancer Society: How is Stomach Cancer Diagnosed? - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Genetic Testing Registry: Hereditary diffuse gastric cancer - MedlinePlus Encyclopedia: Gastric Cancer... |
information | What is (are) chronic atrial and intestinal dysrhythmia ? | Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat; affected individuals have a heart rhythm abnormality called sick sinus syndrome. The disorder also impairs the rhythmic muscle contractions that propel food thro... |
frequency | How many people are affected by chronic atrial and intestinal dysrhythmia ? | The prevalence of CAID is unknown. At least 17 affected individuals have been described in the medical literature. |
genetic changes | What are the genetic changes related to chronic atrial and intestinal dysrhythmia ? | CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is ar... |
inheritance | Is chronic atrial and intestinal dysrhythmia 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. |
treatment | What are the treatments for chronic atrial and intestinal dysrhythmia ? | These resources address the diagnosis or management of chronic atrial and intestinal dysrhythmia: - Children's Hospital of Pittsburgh: Chronic Intestinal Pseudo-obstruction - Genetic Testing Registry: Chronic atrial and intestinal dysrhythmia - MedlinePlus Encyclopedia: Heart Pacemakers - MedlinePlus Health Topic: ... |
information | 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... |
frequency | How many people are affected by hereditary sensory and autonomic neuropathy type II ? | HSAN2 is a rare disease; however, the prevalence is unknown. |
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