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 Brody myopathy ? | Mutations in the ATP2A1 gene cause Brody myopathy. The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum. This structure ... |
inheritance | Is Brody myopathy inherited ? | Brody myopathy is usually 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. Some peo... |
treatment | What are the treatments for Brody myopathy ? | These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surg... |
information | What is (are) isolated lissencephaly sequence ? | Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are diso... |
frequency | How many people are affected by isolated lissencephaly sequence ? | ILS affects approximately 1 in 100,000 newborns. |
genetic changes | What are the genetic changes related to isolated lissencephaly sequence ? | Mutations in the PAFAH1B1, DCX, or TUBA1A gene can cause ILS. PAFAH1B1 gene mutations are responsible for over half of ILS cases; DCX gene mutations cause about 10 percent of cases; and TUBA1A gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the m... |
inheritance | Is isolated lissencephaly sequence inherited ? | The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, 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. Most cases result from new mutations in the gene and ... |
treatment | What are the treatments for isolated lissencephaly sequence ? | These resources address the diagnosis or management of isolated lissencephaly sequence: - Gene Review: Gene Review: DCX-Related Disorders - Gene Review: Gene Review: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia - Gene Review: Gene Review: Tubulinopathies Overview - Genetic Testing Registry: Lissenceph... |
information | What is (are) homocystinuria ? | Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsig... |
frequency | How many people are affected by homocystinuria ? | The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a small number of cas... |
genetic changes | What are the genetic changes related to homocystinuria ? | Mutations in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria. Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting ... |
inheritance | Is homocystinuria inherited ? | This condition is 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. Although people wh... |
treatment | What are the treatments for homocystinuria ? | These resources address the diagnosis or management of homocystinuria: - Baby's First Test - Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism - Gene Review: Gene Review: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Genetic Testing Registry: Homocysteinemia due to MTHFR ... |
information | What is (are) X-linked congenital stationary night blindness ? | X-linked congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing in low light (night blindness). They also have other vision problems, including loss of sharpness (... |
frequency | How many people are affected by X-linked congenital stationary night blindness ? | The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form. |
genetic changes | What are the genetic changes related to X-linked congenital stationary night blindness ? | Mutations in the NYX and CACNA1F genes cause the complete and incomplete forms of X-linked congenital stationary night blindness, respectively. The proteins produced from these genes play critical roles in the retina. Within the retina, the NYX and CACNA1F proteins are located on the surface of light-detecting cells c... |
inheritance | Is X-linked congenital stationary night blindness inherited ? | This condition is inherited in an X-linked recessive pattern. The NYX and CACNA1F genes are 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 two X chromoso... |
treatment | What are the treatments for X-linked congenital stationary night blindness ? | These resources address the diagnosis or management of X-linked congenital stationary night blindness: - American Optometric Association: Infant Vision - Gene Review: Gene Review: X-Linked Congenital Stationary Night Blindness - Genetic Testing Registry: Congenital stationary night blindness - Genetic Testing Regis... |
information | What is (are) cytogenetically normal acute myeloid leukemia ? | Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body... |
frequency | How many people are affected by cytogenetically normal acute myeloid leukemia ? | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. Forty to 50 percent of people with acute myeloid leukemia have CN-AML. |
genetic changes | What are the genetic changes related to cytogenetically normal acute myeloid leukemia ? | CN-AML is classified as "cytogenetically normal" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of... |
inheritance | Is cytogenetically normal acute myeloid leukemia inherited ? | CN-AML is not usually inherited but arises from genetic changes in the body's cells that occur after conception. Rarely, an inherited mutation in the CEBPA gene causes acute myeloid leukemia. In these cases, the condition follows an autosomal dominant pattern of inheritance, which means that one copy of the altered CEB... |
treatment | What are the treatments for cytogenetically normal acute myeloid leukemia ? | These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis... |
information | What is (are) adermatoglyphia ? | Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have th... |
frequency | How many people are affected by adermatoglyphia ? | Adermatoglyphia appears to be a rare condition. Only a few affected families have been identified worldwide. |
genetic changes | What are the genetic changes related to adermatoglyphia ? | Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protei... |
inheritance | Is adermatoglyphia inherited ? | Adermatoglyphia is inherited in an autosomal dominant pattern, which means one copy of the altered SMARCAD1 gene in each cell is sufficient to cause the condition. In many cases, an affected person has one parent with the condition. |
treatment | What are the treatments for adermatoglyphia ? | These resources address the diagnosis or management of adermatoglyphia: - Genetic Testing Registry: Adermatoglyphia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... |
information | What is (are) X-linked lissencephaly with abnormal genitalia ? | X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. ... |
frequency | How many people are affected by X-linked lissencephaly with abnormal genitalia ? | The incidence of XLAG is unknown; approximately 30 affected families have been described in the medical literature. |
genetic changes | What are the genetic changes related to X-linked lissencephaly with abnormal genitalia ? | Mutations in the ARX gene cause XLAG. The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). The ARX protei... |
inheritance | Is X-linked lissencephaly with abnormal genitalia inherited ? | This condition is inherited in an X-linked 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 each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the... |
treatment | What are the treatments for X-linked lissencephaly with abnormal genitalia ? | These resources address the diagnosis or management of X-linked lissencephaly with abnormal genitalia: - Genetic Testing Registry: Lissencephaly 2, X-linked These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surge... |
information | What is (are) prothrombin thrombophilia ? | Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the... |
frequency | How many people are affected by prothrombin thrombophilia ? | Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people in the white population in the United States and Europe has prothrombin thrombophilia. This condition is less common in other ethnic groups, occurring in less than one pe... |
genetic changes | What are the genetic changes related to prothrombin thrombophilia ? | Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a ser... |
inheritance | Is prothrombin thrombophilia inherited ? | The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene... |
treatment | What are the treatments for prothrombin thrombophilia ? | These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlu... |
information | What is (are) catecholaminergic polymorphic ventricular tachycardia ? | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of vent... |
frequency | How many people are affected by catecholaminergic polymorphic ventricular tachycardia ? | The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown. |
genetic changes | What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ? | CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown. The RYR2 and CASQ2... |
inheritance | Is catecholaminergic polymorphic ventricular tachycardia inherited ? | When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected par... |
treatment | What are the treatments for catecholaminergic polymorphic ventricular tachycardia ? | These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia: - Cleveland Clinic: Management of Arrhythmias - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycard... |
information | What is (are) Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive p... |
frequency | How many people are affected by Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is very rare, although the exact prevalence is unknown. |
genetic changes | What are the genetic changes related to Schinzel-Giedion syndrome ? | Schinzel-Giedion syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein called SET binding protein 1 (SETBP1), which is known to attach (bind) to another protein called SET. However, the function of the SETBP1 protein and the effect of its binding to the SET protein are... |
inheritance | Is Schinzel-Giedion syndrome inherited ? | Schinzel-Giedion syndrome results from new mutations in the SETBP1 gene and occurs in people with no history of the disorder in their family. One copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for Schinzel-Giedion syndrome ? | These resources address the diagnosis or management of Schinzel-Giedion syndrome: - Genetic Testing Registry: Schinzel-Giedion 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) PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first ... |
frequency | How many people are affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals. |
genetic changes | What are the genetic changes related to PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle homolog 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function. ... |
inheritance | Is PRICKLE1-related progressive myoclonus epilepsy with ataxia inherited ? | Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are 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 no... |
treatment | What are the treatments for PRICKLE1-related progressive myoclonus epilepsy with ataxia ? | These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer in... |
information | What is (are) autosomal dominant vitreoretinochoroidopathy ? | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnorma... |
frequency | How many people are affected by autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is considered a rare disease. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to autosomal dominant vitreoretinochoroidopathy ? | ADVIRC is caused by mutations in the BEST1 gene. The protein produced from this gene, called bestrophin-1, is thought to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina a... |
inheritance | Is autosomal dominant vitreoretinochoroidopathy 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. |
treatment | What are the treatments for autosomal dominant vitreoretinochoroidopathy ? | These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources from MedlinePlus offer information about the diagnosis and management of va... |
information | What is (are) pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate c... |
frequency | How many people are affected by pyruvate carboxylase deficiency ? | Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada. |
genetic changes | What are the genetic changes related to pyruvate carboxylase deficiency ? | Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation... |
inheritance | Is pyruvate carboxylase 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 pyruvate carboxylase deficiency ? | These resources address the diagnosis or management of pyruvate carboxylase deficiency: - Gene Review: Gene Review: Pyruvate Carboxylase Deficiency - Genetic Testing Registry: Pyruvate carboxylase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health cond... |
information | What is (are) spondyloepiphyseal dysplasia congenita ? | Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates t... |
frequency | How many people are affected by spondyloepiphyseal dysplasia congenita ? | This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature. |
genetic changes | What are the genetic changes related to spondyloepiphyseal dysplasia congenita ? | Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The C... |
inheritance | Is spondyloepiphyseal dysplasia congenita 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 spondyloepiphyseal dysplasia congenita ? | These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scol... |
information | What is (are) palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early ch... |
frequency | How many people are affected by palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified. |
genetic changes | What are the genetic changes related to palmoplantar keratoderma with deafness ? | Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junc... |
inheritance | Is palmoplantar keratoderma with deafness inherited ? | Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the... |
treatment | What are the treatments for palmoplantar keratoderma with deafness ? | These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources from MedlinePlus offer information about the diagnosis and manage... |
information | What is (are) 47,XYY syndrome ? | 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY syndrome have normal sexual development and are able to father chi... |
frequency | How many people are affected by 47,XYY syndrome ? | This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day. |
genetic changes | What are the genetic changes related to 47,XYY syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (... |
inheritance | Is 47,XYY syndrome inherited ? | Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the g... |
treatment | What are the treatments for 47,XYY syndrome ? | These resources address the diagnosis or management of 47,XYY syndrome: - Association for X and Y Chromosome Variations: Tell Me About 47,XYY - Genetic Testing Registry: Double Y syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnosti... |
information | What is (are) Leydig cell hypoplasia ? | Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. In Leydig cell hypopl... |
frequency | How many people are affected by Leydig cell hypoplasia ? | Leydig cell hypoplasia is a rare disorder; its prevalence is unknown. |
genetic changes | What are the genetic changes related to Leydig cell hypoplasia ? | Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and the... |
inheritance | Is Leydig cell hypoplasia 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. Only people who... |
treatment | What are the treatments for Leydig cell hypoplasia ? | These resources address the diagnosis or management of Leydig cell hypoplasia: - Genetic Testing Registry: Leydig cell agenesis - MedlinePlus Encyclopedia: Ambiguous Genitalia - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Intersex These resources from MedlinePlus offer information about the ... |
information | What is (are) permanent neonatal diabetes mellitus ? | Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a t... |
frequency | How many people are affected by permanent neonatal diabetes mellitus ? | About 1 in 400,000 infants are diagnosed with diabetes mellitus in the first few months of life. However, in about half of these babies the condition is transient and goes away on its own by age 18 months. The remainder are considered to have permanent neonatal diabetes mellitus. |
genetic changes | What are the genetic changes related to permanent neonatal diabetes mellitus ? | Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provi... |
inheritance | Is permanent neonatal diabetes mellitus inherited ? | Permanent neonatal diabetes mellitus can have different inheritance patterns. When this condition is caused by mutations in the KCNJ11 or INS gene it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of these ca... |
treatment | What are the treatments for permanent neonatal diabetes mellitus ? | These resources address the diagnosis or management of permanent neonatal diabetes mellitus: - Gene Review: Gene Review: Permanent Neonatal Diabetes Mellitus - Genetic Testing Registry: Pancreatic agenesis, congenital - Genetic Testing Registry: Permanent neonatal diabetes mellitus - University of Chicago Kovler Di... |
information | What is (are) Camurati-Engelmann disease ? | Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk,... |
frequency | How many people are affected by Camurati-Engelmann disease ? | The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide. |
genetic changes | What are the genetic changes related to Camurati-Engelmann disease ? | Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions... |
inheritance | Is Camurati-Engelmann 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 Camurati-Engelmann disease ? | These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... |
information | What is (are) congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips... |
frequency | How many people are affected by congenital contractural arachnodactyly ? | The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. |
genetic changes | What are the genetic changes related to congenital contractural arachnodactyly ? | Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibi... |
inheritance | Is congenital contractural arachnodactyly 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 congenital contractural arachnodactyly ? | These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Defo... |
information | What is (are) Cole disease ? | Cole disease is a disorder that affects the skin. People with this disorder have areas of unusually light-colored skin (hypopigmentation), typically on the arms and legs, and spots of thickened skin on the palms of the hands and the soles of the feet (punctate palmoplantar keratoderma). These skin features are present ... |
frequency | How many people are affected by Cole disease ? | Cole disease is a rare disease; its prevalence is unknown. Only a few affected families have been described in the medical literature. |
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