qtype stringclasses 16
values | Question stringlengths 16 191 | Answer stringlengths 6 29k |
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genetic changes | What are the genetic changes related to maternally inherited diabetes and deafness ? | Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDN... |
inheritance | Is maternally inherited diabetes and deafness inherited ? | MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from th... |
treatment | What are the treatments for maternally inherited diabetes and deafness ? | These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitat... |
information | What is (are) Klippel-Feil syndrome ? | Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back o... |
frequency | How many people are affected by Klippel-Feil syndrome ? | Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males. |
genetic changes | What are the genetic changes related to Klippel-Feil syndrome ? | Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved... |
inheritance | Is Klippel-Feil syndrome inherited ? | When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome is inherited in an autosomal recess... |
treatment | What are the treatments for Klippel-Feil syndrome ? | These resources address the diagnosis or management of Klippel-Feil syndrome: - Genetic Testing Registry: Klippel Feil syndrome - Genetic Testing Registry: Klippel-Feil syndrome 1, autosomal dominant - Genetic Testing Registry: Klippel-Feil syndrome 2, autosomal recessive - Genetic Testing Registry: Klippel-Feil sy... |
information | What is (are) abdominal wall defect ? | An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele a... |
frequency | How many people are affected by abdominal wall defect ? | Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do no... |
genetic changes | What are the genetic changes related to abdominal wall defect ? | No genetic mutations are known to cause an abdominal wall defect. Multiple genetic and environmental factors likely influence the development of this disorder. Omphalocele and gastroschisis are caused by different errors in fetal development. Omphalocele occurs during an error in digestive tract development. During th... |
inheritance | Is abdominal wall defect inherited ? | Most cases of abdominal wall defect are sporadic, which means they occur in people with no history of the disorder in their family. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. When an abdominal wall defect, most often omphalocele, is a feature of a... |
treatment | What are the treatments for abdominal wall defect ? | These resources address the diagnosis or management of abdominal wall defect: - Cincinnati Children's Hospital: Gastroschisis - Cincinnati Children's Hospital: Omphalocele - Cleveland Clinic: Omphalocele - Genetic Testing Registry: Congenital omphalocele - Great Ormond Street Hospital for Children (UK): Gastroschi... |
information | What is (are) REN-related kidney disease ? | REN-related kidney disease is an inherited condition that affects kidney function. This condition causes slowly progressive kidney disease that usually becomes apparent during childhood. As this condition progresses, the kidneys become less able to filter fluids and waste products from the body, resulting in kidney fai... |
frequency | How many people are affected by REN-related kidney disease ? | REN-related kidney disease is a rare condition. At least three families with this condition have been identified. |
genetic changes | What are the genetic changes related to REN-related kidney disease ? | Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result ... |
inheritance | Is REN-related kidney 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. |
treatment | What are the treatments for REN-related kidney disease ? | These resources address the diagnosis or management of REN-related kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related (ADTKD-REN) - Genetic Testing Registry: Hyperuricemic nephropathy, familial juvenile, 2 - MedlinePlus Encyclopedia: Hyperkalemia - MedlineP... |
information | What is (are) familial hyperaldosteronism ? | Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt t... |
frequency | How many people are affected by familial hyperaldosteronism ? | The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism. |
genetic changes | What are the genetic changes related to familial hyperaldosteronism ? | The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzyme... |
inheritance | Is familial hyperaldosteronism 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 familial hyperaldosteronism ? | These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Gluco... |
information | What is (are) acral peeling skin syndrome ? | Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth... |
frequency | How many people are affected by acral peeling skin syndrome ? | Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed. |
genetic changes | What are the genetic changes related to acral peeling skin syndrome ? | Acral peeling skin syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelop... |
inheritance | Is acral peeling skin 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 acral peeling skin syndrome ? | These resources address the diagnosis or management of acral peeling skin syndrome: - Birmingham Children's Hospital, National Health Service (UK) - Genetic Testing Registry: Peeling skin syndrome, acral type These resources from MedlinePlus offer information about the diagnosis and management of various health con... |
information | What is (are) otospondylomegaepiphyseal dysplasia ? | Otospondylomegaepiphyseal dysplasia (OSMED) is a skeletal disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The condition involves the ears (oto-), affects the bones of the spine (spondylo-), and enlarges the ends (epiphyses) of long bones in the arms and legs. The ... |
frequency | How many people are affected by otospondylomegaepiphyseal dysplasia ? | This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide. |
genetic changes | What are the genetic changes related to otospondylomegaepiphyseal dysplasia ? | Mutations in the COL11A2 gene cause OSMED. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL11A2 ge... |
inheritance | Is otospondylomegaepiphyseal dysplasia 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 otospondylomegaepiphyseal dysplasia ? | These resources address the diagnosis or management of OSMED: - Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti... |
information | What is (are) X-linked severe combined immunodeficiency ? | X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants wi... |
frequency | How many people are affected by X-linked severe combined immunodeficiency ? | X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns. |
genetic changes | What are the genetic changes related to X-linked severe combined immunodeficiency ? | Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially har... |
inheritance | Is X-linked severe combined immunodeficiency 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... |
treatment | What are the treatments for X-linked severe combined immunodeficiency ? | These resources address the diagnosis or management of X-linked SCID: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: X-Linked Severe Combined Immunodeficiency - Genetic Testing Registry: X-linked severe combined immunodeficiency - MedlinePlus Encyclopedia: Immunodeficiency Disorde... |
information | What is (are) Czech dysplasia ? | Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia ... |
frequency | How many people are affected by Czech dysplasia ? | The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic. |
genetic changes | What are the genetic changes related to Czech dysplasia ? | Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes u... |
inheritance | Is Czech dysplasia inherited ? | Czech dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered COL2A1 gene in each cell is sufficient to cause the disorder. All known individuals with Czech dysplasia inherited the mutation from a parent with the condition. |
treatment | What are the treatments for Czech dysplasia ? | These resources address the diagnosis or management of Czech dysplasia: - Genetic Testing Registry: Czech dysplasia metatarsal type 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) Rett syndrome ? | Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learni... |
frequency | How many people are affected by Rett syndrome ? | This condition affects an estimated 1 in 8,500 females. |
genetic changes | What are the genetic changes related to Rett syndrome ? | Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections ... |
inheritance | Is Rett syndrome inherited ? | In more than 99 percent of people with Rett syndrome, there is no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that classic Rett syndrome a... |
treatment | What are the treatments for Rett syndrome ? | These resources address the diagnosis or management of Rett syndrome: - Boston Children's Hospital - Cleveland Clinic - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Rett syndrome - International Rett Syndrome Foundation: Living with Rett Syndrome - MedlinePlus Encyclopedia: Rett S... |
information | What is (are) congenital afibrinogenemia ? | Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with ... |
frequency | How many people are affected by congenital afibrinogenemia ? | Congenital afibrinogenemia is a rare condition that occurs in approximately 1 in 1 million newborns. |
genetic changes | What are the genetic changes related to congenital afibrinogenemia ? | Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In... |
inheritance | Is congenital afibrinogenemia inherited ? | Congenital afibrinogenemia 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. The parents have about half the normal level of fibrinogen in their bloo... |
treatment | What are the treatments for congenital afibrinogenemia ? | These resources address the diagnosis or management of congenital afibrinogenemia: - Genetic Testing Registry: Hereditary factor I deficiency disease 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) GM1 gangliosidosis ? | GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap s... |
frequency | How many people are affected by GM1 gangliosidosis ? | GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent. |
genetic changes | What are the genetic changes related to GM1 gangliosidosis ? | Mutations in the GLB1 gene cause GM1 gangliosidosis. The GLB1 gene provides instructions for making an enzyme called beta-galactosidase (-galactosidase), which plays a critical role in the brain. This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of mole... |
inheritance | Is GM1 gangliosidosis 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 GM1 gangliosidosis ? | These resources address the diagnosis or management of GM1 gangliosidosis: - Genetic Testing Registry: Gangliosidosis GM1 type 3 - Genetic Testing Registry: Gangliosidosis generalized GM1 type 1 - Genetic Testing Registry: Infantile GM1 gangliosidosis - Genetic Testing Registry: Juvenile GM>1< gangliosidosis Thes... |
information | What is (are) alkaptonuria ? | Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develo... |
frequency | How many people are affected by alkaptonuria ? | This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. |
genetic changes | What are the genetic changes related to alkaptonuria ? | Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process... |
inheritance | Is alkaptonuria 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 alkaptonuria ? | These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... |
information | What is (are) benign chronic pemphigus ? | Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin condition that usually appears in early adulthood. The disorder is characterized by red, raw, and blistered areas of skin that occur most often in skin folds, such as the groin, armpits, neck, and under the breasts. These inflamed areas can be... |
frequency | How many people are affected by benign chronic pemphigus ? | Benign chronic pemphigus is a rare condition; its prevalence is unknown. |
genetic changes | What are the genetic changes related to benign chronic pemphigus ? | Benign chronic pemphigus results from mutations in the ATP2C1 gene. This gene provides instructions for producing a protein called hSPCA1, which is found in many types of cells. The hSPCA1 protein helps cells store calcium until it is needed. Calcium has several critical functions in cells, including regulating cell gr... |
inheritance | Is benign chronic pemphigus 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 benign chronic pemphigus ? | These resources address the diagnosis or management of benign chronic pemphigus: - American Osteopathic College of Dermatology - Genetic Testing Registry: Familial benign pemphigus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests... |
information | What is (are) Silver syndrome ? | Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and c... |
frequency | How many people are affected by Silver syndrome ? | Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown. |
genetic changes | What are the genetic changes related to Silver syndrome ? | Mutations in the BSCL2 gene cause Silver syndrome. The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown. The BSCL2 gene is active (expressed) in cells throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in brain cells. Within ce... |
inheritance | Is Silver syndrome inherited ? | Silver syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver... |
treatment | What are the treatments for Silver syndrome ? | These resources address the diagnosis or management of Silver syndrome: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 17 - Spastic Paraplegia Foundation, Inc.: Treatments a... |
information | What is (are) hereditary folate malabsorption ? | Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA. Infants with hereditary folate malabsorption are born with normal a... |
frequency | How many people are affected by hereditary folate malabsorption ? | The prevalence of hereditary folate malabsorption is unknown. Approximately 15 affected families have been reported worldwide. Researchers believe that some infants with this disorder may not get diagnosed or treated, particularly in areas where advanced medical care is not available. |
genetic changes | What are the genetic changes related to hereditary folate malabsorption ? | The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients ... |
inheritance | Is hereditary folate malabsorption 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 hereditary folate malabsorption ? | These resources address the diagnosis or management of hereditary folate malabsorption: - Gene Review: Gene Review: Hereditary Folate Malabsorption - Genetic Testing Registry: Congenital defect of folate absorption - MedlinePlus Encyclopedia: Folate - MedlinePlus Encyclopedia: Folate Deficiency - MedlinePlus Encyc... |
information | What is (are) MECP2 duplication syndrome ? | MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscl... |
frequency | How many people are affected by MECP2 duplication syndrome ? | The prevalence of MECP2 duplication syndrome is unknown; approximately 120 affected individuals have been reported in the scientific literature. It is estimated that this condition is responsible for 1 to 2 percent of all cases of intellectual disability caused by changes in the X chromosome. |
genetic changes | What are the genetic changes related to MECP2 duplication syndrome ? | MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building block... |
inheritance | Is MECP2 duplication syndrome inherited ? | MECP2 duplication syndrome is inherited in an X-linked 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), a duplication of the only copy of the MECP2 gene in each cell is sufficient to cause the condition. ... |
treatment | What are the treatments for MECP2 duplication syndrome ? | These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication syndrome These resources from MedlinePlus... |
information | What is (are) paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are in... |
frequency | How many people are affected by paroxysmal nocturnal hemoglobinuria ? | Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect between 1 and 5 per million people. |
genetic changes | What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ? | Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell memb... |
inheritance | Is paroxysmal nocturnal hemoglobinuria inherited ? | This condition is acquired, rather than inherited. It results from new mutations in the PIGA gene, and generally occurs in people with no previous history of the disorder in their family. The condition is not passed down to children of affected individuals. |
treatment | What are the treatments for paroxysmal nocturnal hemoglobinuria ? | These resources address the diagnosis or management of paroxysmal nocturnal hemoglobinuria: - Duke University School of Medicine: Hemostasis & Thrombosis Center - Genetic Testing Registry: Paroxysmal nocturnal hemoglobinuria - MedlinePlus Encyclopedia: Paroxysmal nocturnal hemoglobinuria (PNH) - Memorial Sloan-Kett... |
information | What is (are) glycine encephalopathy ? | Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that... |
frequency | How many people are affected by glycine encephalopathy ? | The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada. |
genetic changes | What are the genetic changes related to glycine encephalopathy ? | Mutations in the AMT and GLDC genes cause glycine encephalopathy. About 80 percent of cases of glycine encephalopathy result from mutations in the GLDC gene, while AMT mutations cause 10 percent to 15 percent of all cases. In a small percentage of affected individuals, the cause of this condition is unknown. The AMT ... |
inheritance | Is glycine encephalopathy 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 glycine encephalopathy ? | These resources address the diagnosis or management of glycine encephalopathy: - Baby's First Test - Gene Review: Gene Review: Glycine Encephalopathy - Genetic Testing Registry: Non-ketotic hyperglycinemia These resources from MedlinePlus offer information about the diagnosis and management of various health condi... |
information | What is (are) spinocerebellar ataxia type 6 ? | Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double ... |
frequency | How many people are affected by spinocerebellar ataxia type 6 ? | The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 individuals. |
genetic changes | What are the genetic changes related to spinocerebellar ataxia type 6 ? | Mutations in the CACNA1A gene cause SCA6. The CACNA1A gene provides instructions for making a protein that forms a part of some calcium channels. These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cell... |
inheritance | Is spinocerebellar ataxia type 6 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. As the altered CACNA1A gene is passed down from one generation to the next, the length of the CA... |
treatment | What are the treatments for spinocerebellar ataxia type 6 ? | These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... |
information | What is (are) LAMA2-related muscular dystrophy ? | LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form. Early-onset LAMA2-related muscular dystrophy is apparent at birth o... |
frequency | How many people are affected by LAMA2-related muscular dystrophy ? | The prevalence of early-onset LAMA2-related muscular dystrophy is estimated at 1 in 30,000 individuals. This condition accounts for between 30 and 40 percent of total cases of congenital muscular dystrophy, although its contribution may be higher or lower than this range in specific populations. Late-onset LAMA2-relate... |
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