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 familial HDL deficiency ? | Mutations in the ABCA1 gene or the APOA1 gene cause familial HDL deficiency. The proteins produced from these genes work together to remove cholesterol and phospholipids from cells. The ABCA1 gene provides instructions for making a protein that removes cholesterol and phospholipids from cells by moving them across the... |
inheritance | Is familial HDL deficiency inherited ? | Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease. |
treatment | What are the treatments for familial HDL deficiency ? | These resources address the diagnosis or management of familial HDL deficiency: - Genetic Testing Registry: Familial hypoalphalipoproteinemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabili... |
information | What is (are) intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth re... |
frequency | How many people are affected by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is very rare, with only about 20 cases reported in the medical literature. The condition has been diagnosed more often in males than in females, probably because females do not have associated genital abnormalities. |
genetic changes | What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development ... |
inheritance | Is intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies inherited ? | The inheritance of IMAGe syndrome is complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered CDKN1C gene in each cell is sufficient to cause the disorder. However, because this gene is paternally imprinted, IMAGe syndrome results only when the mutation is ... |
treatment | What are the treatments for intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | These resources address the diagnosis or management of IMAGe syndrome: - Gene Review: Gene Review: IMAGe Syndrome - Genetic Testing Registry: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - National Institutes of Health Clinical Center: Managing Adrenal I... |
information | What is (are) distal hereditary motor neuropathy, type II ? | Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs. Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of... |
frequency | How many people are affected by distal hereditary motor neuropathy, type II ? | The prevalence of distal hereditary motor neuropathy, type II is unknown. At least 25 affected families have been identified worldwide. |
genetic changes | What are the genetic changes related to distal hereditary motor neuropathy, type II ? | Mutations in the HSPB1 and HSPB8 genes cause distal hereditary motor neuropathy, type II. These genes provide instructions for making proteins called heat shock protein beta-1 and heat shock protein beta-8. Heat shock proteins help protect cells under adverse conditions such as infection, inflammation, exposure to toxi... |
inheritance | Is distal hereditary motor neuropathy, type II 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 distal hereditary motor neuropathy, type II ? | These resources address the diagnosis or management of distal hereditary motor neuropathy, type II: - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2A - Genetic Testing Registry: Distal hereditary motor neuronopathy type 2B - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus... |
information | What is (are) primary hyperoxaluria ? | Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Primary hyperoxaluria result... |
frequency | How many people are affected by primary hyperoxaluria ? | Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases. |
genetic changes | What are the genetic changes related to primary hyperoxaluria ? | Mutations in the AGXT, GRHPR, and HOGA1 genes cause primary hyperoxaluria types 1, 2, and 3, respectively. These genes provide instructions for making enzymes that are involved in the breakdown and processing of protein building blocks (amino acids) and other compounds. The enzyme produced from the HOGA1 gene is involv... |
inheritance | Is primary hyperoxaluria 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 primary hyperoxaluria ? | These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Regist... |
information | What is (are) hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disord... |
frequency | How many people are affected by hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature. |
genetic changes | What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sh... |
inheritance | Is hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 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. |
treatment | What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ? | These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps These resources from MedlinePlus offer information about the diagnosis and management of vari... |
information | What is (are) African iron overload ? | African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intest... |
frequency | How many people are affected by African iron overload ? | African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and gender differences in the processing of iron.... |
genetic changes | What are the genetic changes related to African iron overload ? | African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all indiv... |
inheritance | Is African iron overload inherited ? | African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this... |
treatment | What are the treatments for African iron overload ? | These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabili... |
information | What is (are) hereditary multiple osteochondromas ? | Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 ... |
frequency | How many people are affected by hereditary multiple osteochondromas ? | The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada. |
genetic changes | What are the genetic changes related to hereditary multiple osteochondromas ? | Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, whi... |
inheritance | Is hereditary multiple osteochondromas inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
treatment | What are the treatments for hereditary multiple osteochondromas ? | These resources address the diagnosis or management of hereditary multiple osteochondromas: - Gene Review: Gene Review: Hereditary Multiple Osteochondromas - Genetic Testing Registry: Multiple congenital exostosis - Genetic Testing Registry: Multiple exostoses type 2 These resources from MedlinePlus offer informat... |
information | What is (are) Partington syndrome ? | Partington syndrome is a neurological disorder that causes intellectual disability along with a condition called focal dystonia that particularly affects movement of the hands. Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The intellectual disabil... |
frequency | How many people are affected by Partington syndrome ? | The prevalence of Partington syndrome is unknown. About 20 cases have been described in the medical literature. |
genetic changes | What are the genetic changes related to Partington syndrome ? | Partington syndrome is caused by mutations in the ARX gene. This gene provides instructions for producing a protein that regulates the activity of other genes. Within the developing brain, the ARX protein is involved with movement (migration) and communication of nerve cells (neurons). In particular, this protein regul... |
inheritance | Is Partington syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... |
treatment | What are the treatments for Partington syndrome ? | These resources address the diagnosis or management of Partington syndrome: - American Academy of Child and Adolescent Psychiatry: Services in School for Children with Special Needs - American Academy of Pediatrics: What is a Developmental/Behavioral Pediatrician? - Centers for Disease Control and Prevention: Develo... |
information | What is (are) congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals hav... |
frequency | How many people are affected by congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. |
genetic changes | What are the genetic changes related to congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes... |
inheritance | Is congenital deafness with labyrinthine aplasia, microtia, and microdontia 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 congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) These resources from MedlinePlus offer information... |
information | What is (are) myosin storage myopathy ? | Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy ... |
frequency | How many people are affected by myosin storage myopathy ? | Myosin storage myopathy is a rare condition. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to myosin storage myopathy ? | Mutations in the MYH7 gene cause myosin storage myopathy. The MYH7 gene provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers, one of two types of fibers that make up the muscles that the body uses... |
inheritance | Is myosin storage myopathy 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 myosin storage myopathy ? | These resources address the diagnosis or management of myosin storage myopathy: - Genetic Testing Registry: Myosin storage myopathy 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) citrullinemia ? | Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes. Type I citrullinemia (also known as classic citrullinemia) usually bec... |
frequency | How many people are affected by citrullinemia ? | Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from... |
genetic changes | What are the genetic changes related to citrullinemia ? | Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body.... |
inheritance | Is citrullinemia 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 citrullinemia ? | These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Ge... |
information | What is (are) ophthalmo-acromelic syndrome ? | Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected i... |
frequency | How many people are affected by ophthalmo-acromelic syndrome ? | The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature. |
genetic changes | What are the genetic changes related to ophthalmo-acromelic syndrome ? | Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cell... |
inheritance | Is ophthalmo-acromelic 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 ophthalmo-acromelic syndrome ? | These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Reha... |
information | What is (are) spastic paraplegia type 2 ? | Spastic paraplegia type 2 is part 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). Hereditary spastic paraplegias are divided into two types: pure and ... |
frequency | How many people are affected by spastic paraplegia type 2 ? | The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely accounts for only a small percentage of all spastic paraplegia cases. |
genetic changes | What are the genetic changes related to spastic paraplegia type 2 ? | Mutations in the PLP1 gene cause spastic paraplegia 2. 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 brain and spinal cord (central nervous system) and are the ma... |
inheritance | Is spastic paraplegia type 2 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 spastic paraplegia type 2 ? | These resources address the diagnosis or management of spastic paraplegia type 2: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: PLP1-Related Disorders - Genetic Testing Registry: Spastic paraplegia 2 - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies T... |
information | What is (are) 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed developmen... |
frequency | How many people are affected by 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have each been reported to affect fewer than 150 individuals worldwide. Combined D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. |
genetic changes | What are the genetic changes related to 2-hydroxyglutaric aciduria ? | The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene. The D2HG... |
inheritance | Is 2-hydroxyglutaric aciduria inherited ? | D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, 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 sy... |
treatment | What are the treatments for 2-hydroxyglutaric aciduria ? | These resources address the diagnosis or management of 2-hydroxyglutaric aciduria: - Genetic Testing Registry: Combined d-2- and l-2-hydroxyglutaric aciduria - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 1 - Genetic Testing Registry: D-2-hydroxyglutaric aciduria 2 - Genetic Testing Registry: L-2-hydroxyg... |
information | What is (are) Robinow syndrome ? | Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the bones. Researchers have identified two major types of Robinow syndrome. The types are distinguished by the severity of their signs and symptoms and by their pattern of inheritance, autosomal recessive or autosom... |
frequency | How many people are affected by Robinow syndrome ? | Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and... |
genetic changes | What are the genetic changes related to Robinow syndrome ? | Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears... |
inheritance | Is Robinow syndrome inherited ? | As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant 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 g... |
treatment | What are the treatments for Robinow syndrome ? | These resources address the diagnosis or management of Robinow syndrome: - Gene Review: Gene Review: Autosomal Dominant Robinow Syndrome - Gene Review: Gene Review: ROR2-Related Robinow Syndrome - Genetic Testing Registry: Robinow syndrome - University of Chicago: Genetic Testing for Robinow Syndrome These resour... |
information | What is (are) Bannayan-Riley-Ruvalcaba syndrome ? | Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparen... |
frequency | How many people are affected by Bannayan-Riley-Ruvalcaba syndrome ? | The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle. |
genetic changes | What are the genetic changes related to Bannayan-Riley-Ruvalcaba syndrome ? | About 60 percent of all cases of Bannayan-Riley-Ruvalcaba syndrome result from mutations in the PTEN gene. Another 10 percent of cases are caused by a large deletion of genetic material that includes part or all of this gene. The protein produced from the PTEN gene is a tumor suppressor, which means that it normally pr... |
inheritance | Is Bannayan-Riley-Ruvalcaba 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. |
treatment | What are the treatments for Bannayan-Riley-Ruvalcaba syndrome ? | These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Famil... |
information | What is (are) aromatic l-amino acid decarboxylase deficiency ? | Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (h... |
frequency | How many people are affected by aromatic l-amino acid decarboxylase deficiency ? | AADC deficiency is a rare disorder. Only about 100 people with this condition have been described in the medical literature worldwide; about 20 percent of these individuals are from Taiwan. |
genetic changes | What are the genetic changes related to aromatic l-amino acid decarboxylase deficiency ? | Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signa... |
inheritance | Is aromatic l-amino acid decarboxylase 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 aromatic l-amino acid decarboxylase deficiency ? | These resources address the diagnosis or management of aromatic l-amino acid decarboxylase deficiency: - Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... |
information | What is (are) tubular aggregate myopathy ? | Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can... |
frequency | How many people are affected by tubular aggregate myopathy ? | Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. |
genetic changes | What are the genetic changes related to tubular aggregate myopathy ? | Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell thro... |
inheritance | Is tubular aggregate myopathy inherited ? | Most cases of tubular aggregate myopathy, including those caused by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the mutation is passed through generations in a fam... |
treatment | What are the treatments for tubular aggregate myopathy ? | These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabi... |
information | What is (are) arginine:glycine amidinotransferase deficiency ? | Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They ma... |
frequency | How many people are affected by arginine:glycine amidinotransferase deficiency ? | The prevalence of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families. |
genetic changes | What are the genetic changes related to arginine:glycine amidinotransferase deficiency ? | Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine,... |
inheritance | Is arginine:glycine amidinotransferase 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 arginine:glycine amidinotransferase deficiency ? | These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency: - Gene Review: Gene Review: Creatine Deficiency Syndromes - Genetic Testing Registry: Arginine:glycine amidinotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and manag... |
information | What is (are) Tangier disease ? | Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholester... |
frequency | How many people are affected by Tangier disease ? | Tangier disease is a rare disorder with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified. |
genetic changes | What are the genetic changes related to Tangier disease ? | Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver. Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids fro... |
inheritance | Is Tangier disease inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. |
treatment | What are the treatments for Tangier disease ? | These resources address the diagnosis or management of Tangier disease: - Genetic Testing Registry: Tangier disease 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) prekallikrein deficiency ? | Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein ... |
frequency | How many people are affected by prekallikrein deficiency ? | The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed. |
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