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What is (are) Lowe syndrome ? | Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affecte... | Lowe syndrome |
How many people are affected by Lowe syndrome ? | Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people. | Lowe syndrome |
What are the genetic changes related to Lowe syndrome ? | Mutations in the OCRL gene cause Lowe syndrome. The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. By controlling the levels of specific membrane phospholipids, the OCRL enzyme helps regulate the transport of certain substances to and from the... | Lowe syndrome |
Is Lowe syndrome 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 males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. I... | Lowe syndrome |
What are the treatments for Lowe syndrome ? | These resources address the diagnosis or management of Lowe syndrome: - Gene Review: Gene Review: Lowe Syndrome - Genetic Testing Registry: Lowe syndrome - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Fanconi Syndrome These resources from MedlinePlus offer information about the diagno... | Lowe syndrome |
What is (are) 3-hydroxyacyl-CoA dehydrogenase deficiency ? | 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting). Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, ... | 3-hydroxyacyl-CoA dehydrogenase deficiency |
How many people are affected by 3-hydroxyacyl-CoA dehydrogenase deficiency ? | The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide. | 3-hydroxyacyl-CoA dehydrogenase deficiency |
What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ? | Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert ... | 3-hydroxyacyl-CoA dehydrogenase deficiency |
Is 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ? | This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | 3-hydroxyacyl-CoA dehydrogenase deficiency |
What are the treatments for 3-hydroxyacyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of 3-hydroxyacyl-CoA dehydrogenase deficiency: - Baby's First Test - Genetic Testing Registry: Deficiency of 3-hydroxyacyl-CoA dehydrogenase - United Mitochondrial Disease Foundation: Treatments & Therapies These resources from MedlinePlus offer information about... | 3-hydroxyacyl-CoA dehydrogenase deficiency |
What is (are) COG5-congenital disorder of glycosylation ? | COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. Individuals with COG... | COG5-congenital disorder of glycosylation |
How many people are affected by COG5-congenital disorder of glycosylation ? | COG5-CDG is a very rare disorder; fewer than 10 cases have been described in the medical literature. | COG5-congenital disorder of glycosylation |
What are the genetic changes related to COG5-congenital disorder of glycosylation ? | COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that oc... | COG5-congenital disorder of glycosylation |
Is COG5-congenital disorder of glycosylation 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. | COG5-congenital disorder of glycosylation |
What are the treatments for COG5-congenital disorder of glycosylation ? | These resources address the diagnosis or management of COG5-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 2i These resources from MedlinePlus offer information about the diagnosis and management ... | COG5-congenital disorder of glycosylation |
What is (are) Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections... | Chediak-Higashi syndrome |
How many people are affected by Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide. | Chediak-Higashi syndrome |
What are the genetic changes related to Chediak-Higashi syndrome ? | Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures... | Chediak-Higashi syndrome |
Is Chediak-Higashi 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. | Chediak-Higashi syndrome |
What are the treatments for Chediak-Higashi syndrome ? | These resources address the diagnosis or management of Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IP... | Chediak-Higashi syndrome |
What is (are) hereditary hyperekplexia ? | Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rig... | hereditary hyperekplexia |
How many people are affected by hereditary hyperekplexia ? | The exact prevalence of hereditary hyperekplexia is unknown. This condition has been identified in more than 70 families worldwide. | hereditary hyperekplexia |
What are the genetic changes related to hereditary hyperekplexia ? | At least five genes are associated with hereditary hyperekplexia. Most of these genes provide instructions for producing proteins that are found in nerve cells (neurons). They play a role in how neurons respond to a molecule called glycine. This molecule acts as a neurotransmitter, which is a chemical messenger that tr... | hereditary hyperekplexia |
Is hereditary hyperekplexia inherited ? | Hereditary hyperekplexia has different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may res... | hereditary hyperekplexia |
What are the treatments for hereditary hyperekplexia ? | These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary These resources from MedlinePlus offer information about the diagnos... | hereditary hyperekplexia |
What is (are) ornithine transcarbamylase deficiency ? | Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamyl... | ornithine transcarbamylase deficiency |
How many people are affected by ornithine transcarbamylase deficiency ? | Ornithine transcarbamylase deficiency is believed to occur in approximately 1 in every 80,000 people. | ornithine transcarbamylase deficiency |
What are the genetic changes related to ornithine transcarbamylase deficiency ? | Mutations in the OTC gene cause ornithine transcarbamylase deficiency. Ornithine transcarbamylase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body... | ornithine transcarbamylase deficiency |
Is ornithine transcarbamylase deficiency inherited ? | Ornithine transcarbamylase deficiency is an X-linked disorder. 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. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (wh... | ornithine transcarbamylase deficiency |
What are the treatments for ornithine transcarbamylase deficiency ? | These resources address the diagnosis or management of ornithine transcarbamylase deficiency: - Baby's First Test - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Ornithine carbamoyltransferase deficiency - Medli... | ornithine transcarbamylase deficiency |
What is (are) hypermethioninemia ? | Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia e... | hypermethioninemia |
How many people are affected by hypermethioninemia ? | Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms. | hypermethioninemia |
What are the genetic changes related to hypermethioninemia ? | Mutations in the AHCY, GNMT, and MAT1A genes cause hypermethioninemia. Inherited hypermethioninemia that is not associated with other metabolic disorders can be caused by shortages (deficiencies) in the enzymes that break down methionine. These enzymes are produced from the MAT1A, GNMT and AHCY genes. The reactions in... | hypermethioninemia |
Is hypermethioninemia inherited ? | Hypermethioninemia can have different inheritance patterns. This condition is usually 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 ... | hypermethioninemia |
What are the treatments for hypermethioninemia ? | These resources address the diagnosis or management of hypermethioninemia: - Baby's First Test - Genetic Testing Registry: Glycine N-methyltransferase deficiency - Genetic Testing Registry: Hepatic methionine adenosyltransferase deficiency - Genetic Testing Registry: Hypermethioninemia with s-adenosylhomocysteine h... | hypermethioninemia |
What is (are) renal tubular dysgenesis ? | Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everyth... | renal tubular dysgenesis |
How many people are affected by renal tubular dysgenesis ? | Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. | renal tubular dysgenesis |
What are the genetic changes related to renal tubular dysgenesis ? | Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth. The renin-angiotensin system consists of severa... | renal tubular dysgenesis |
Is renal tubular dysgenesis inherited ? | Renal tubular dysgenesis is inherited in an autosomal recessive pattern, which means both copies of the affected 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 conditio... | renal tubular dysgenesis |
What are the treatments for renal tubular dysgenesis ? | These resources address the diagnosis or management of renal tubular dysgenesis: - Genetic Testing Registry: Renal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic... | renal tubular dysgenesis |
What is (are) argininosuccinic aciduria ? | Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually b... | argininosuccinic aciduria |
How many people are affected by argininosuccinic aciduria ? | Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. | argininosuccinic aciduria |
What are the genetic changes related to argininosuccinic aciduria ? | Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound call... | argininosuccinic aciduria |
Is argininosuccinic aciduria 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. | argininosuccinic aciduria |
What are the treatments for argininosuccinic aciduria ? | These resources address the diagnosis or management of argininosuccinic aciduria: - Baby's First Test - Gene Review: Gene Review: Argininosuccinate Lyase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Argininosuccinate lyase deficiency - MedlinePlus Encyclopedia: H... | argininosuccinic aciduria |
What is (are) multiminicore disease ? | Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening. Researchers have identified at least four forms of multiminicore disease, which can be distinguished by th... | multiminicore disease |
How many people are affected by multiminicore disease ? | Multiminicore disease is thought to be a rare disorder, although its incidence is unknown. | multiminicore disease |
What are the genetic changes related to multiminicore disease ? | Mutations in the RYR1 and SEPN1 genes cause multiminicore disease. The severe, classic form of multiminicore disease is usually caused by mutations in the SEPN1 gene. This gene provides instructions for making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may... | multiminicore disease |
Is multiminicore 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. | multiminicore disease |
What are the treatments for multiminicore disease ? | These resources address the diagnosis or management of multiminicore disease: - Gene Review: Gene Review: Multiminicore Disease - Genetic Testing Registry: Minicore myopathy with external ophthalmoplegia - Genetic Testing Registry: Minicore myopathy, antenatal onset, with arthrogryposis - Genetic Testing Registry: ... | multiminicore disease |
What is (are) spinal muscular atrophy with respiratory distress type 1 ? | Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episod... | spinal muscular atrophy with respiratory distress type 1 |
How many people are affected by spinal muscular atrophy with respiratory distress type 1 ? | SMARD1 appears to be a rare condition, but its prevalence is unknown. More than 60 cases have been reported in the scientific literature. | spinal muscular atrophy with respiratory distress type 1 |
What are the genetic changes related to spinal muscular atrophy with respiratory distress type 1 ? | Mutations in the IGHMBP2 gene cause SMARD1. The IGHMBP2 gene provides instructions for making a protein involved in copying (replicating) DNA; producing RNA, a chemical cousin of DNA; and producing proteins. IGHMBP2 gene mutations that cause SMARD1 lead to the production of a protein with reduced ability to aid in DNA ... | spinal muscular atrophy with respiratory distress type 1 |
Is spinal muscular atrophy with respiratory distress type 1 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. | spinal muscular atrophy with respiratory distress type 1 |
What are the treatments for spinal muscular atrophy with respiratory distress type 1 ? | These resources address the diagnosis or management of SMARD1: - Genetic Testing Registry: Spinal muscular atrophy with respiratory distress 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabil... | spinal muscular atrophy with respiratory distress type 1 |
What is (are) rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by... | rhizomelic chondrodysplasia punctata |
How many people are affected by rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people worldwide. RCDP1 is more common than RCDP2 or RCDP3. | rhizomelic chondrodysplasia punctata |
What are the genetic changes related to rhizomelic chondrodysplasia punctata ? | Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most common, cause RCDP1. Changes in the GNPAT gene lead to RCDP2, while AGPS gene mutations result in RCDP3. The genes associated with rhizomelic chondrodysplasia punctata are involved in the forma... | rhizomelic chondrodysplasia punctata |
Is rhizomelic chondrodysplasia punctata 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. | rhizomelic chondrodysplasia punctata |
What are the treatments for rhizomelic chondrodysplasia punctata ? | These resources address the diagnosis or management of rhizomelic chondrodysplasia punctata: - Gene Review: Gene Review: Rhizomelic Chondrodysplasia Punctata Type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1 - Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 2 - Genet... | rhizomelic chondrodysplasia punctata |
What is (are) GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epileps... | GLUT1 deficiency syndrome |
How many people are affected by GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many ne... | GLUT1 deficiency syndrome |
What are the genetic changes related to GLUT1 deficiency syndrome ? | GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the... | GLUT1 deficiency syndrome |
Is GLUT1 deficiency syndrome inherited ? | This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of cases of GLUT1 deficiency syndrome result from new mutations in the gene. These cases occur in people with no history of the disorder in th... | GLUT1 deficiency syndrome |
What are the treatments for GLUT1 deficiency syndrome ? | These resources address the diagnosis or management of GLUT1 deficiency syndrome: - G1D Registry - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome - The Glucose Transporter Type 1 Deficiency Syndrome Research Consort... | GLUT1 deficiency syndrome |
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... | permanent neonatal diabetes mellitus |
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. | permanent neonatal diabetes mellitus |
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... | permanent neonatal diabetes mellitus |
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... | permanent neonatal diabetes mellitus |
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... | permanent neonatal diabetes mellitus |
What is (are) familial cylindromatosis ? | Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive f... | familial cylindromatosis |
How many people are affected by familial cylindromatosis ? | Familial cylindromatosis is a rare disorder; its prevalence is unknown. | familial cylindromatosis |
What are the genetic changes related to familial cylindromatosis ? | Familial cylindromatosis is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating... | familial cylindromatosis |
Is familial cylindromatosis inherited ? | Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder. | familial cylindromatosis |
What are the treatments for familial cylindromatosis ? | These resources address the diagnosis or management of familial cylindromatosis: - Genetic Testing Registry: Cylindromatosis, familial These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | familial cylindromatosis |
What is (are) 3-methylglutaconyl-CoA hydratase deficiency ? | 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms a... | 3-methylglutaconyl-CoA hydratase deficiency |
How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ? | 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature. | 3-methylglutaconyl-CoA hydratase deficiency |
What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ? | Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cel... | 3-methylglutaconyl-CoA hydratase deficiency |
Is 3-methylglutaconyl-CoA hydratase 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. | 3-methylglutaconyl-CoA hydratase deficiency |
What are the treatments for 3-methylglutaconyl-CoA hydratase deficiency ? | These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency: - Baby's First Test - Genetic Testing Registry: 3-Methylglutaconic aciduria - MedlinePlus Encyclopedia: Metabolic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of var... | 3-methylglutaconyl-CoA hydratase deficiency |
What is (are) familial HDL deficiency ? | Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redist... | familial HDL deficiency |
How many people are affected by familial HDL deficiency ? | Familial HDL deficiency is a rare disorder, although the prevalence is unknown. | familial HDL deficiency |
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... | familial HDL deficiency |
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. | familial HDL deficiency |
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... | familial HDL deficiency |
What is (are) Jacobsen syndrome ? | Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affec... | Jacobsen syndrome |
How many people are affected by Jacobsen syndrome ? | The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported. | Jacobsen syndrome |
What are the genetic changes related to Jacobsen syndrome ? | Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the del... | Jacobsen syndrome |
Is Jacobsen syndrome inherited ? | Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromos... | Jacobsen syndrome |
What are the treatments for Jacobsen syndrome ? | These resources address the diagnosis or management of Jacobsen syndrome: - 11q Research & Resource Group: Concerns and Recommendations - Genetic Testing Registry: 11q partial monosomy syndrome - Unique: Chromosome 11q Deletion Disorder: Jacobsen Syndrome These resources from MedlinePlus offer information about th... | Jacobsen syndrome |
What is (are) hand-foot-genital syndrome ? | Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardeni... | hand-foot-genital syndrome |
How many people are affected by hand-foot-genital syndrome ? | Hand-foot-genital syndrome is very rare; only a few families with the condition have been reported worldwide. | hand-foot-genital syndrome |
What are the genetic changes related to hand-foot-genital syndrome ? | Mutations in the HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urina... | hand-foot-genital syndrome |
Is hand-foot-genital 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. | hand-foot-genital syndrome |
What are the treatments for hand-foot-genital syndrome ? | These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Urinary Tract Infection These resources from MedlinePl... | hand-foot-genital syndrome |
What is (are) ZAP70-related severe combined immunodeficiency ? | ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses,... | ZAP70-related severe combined immunodeficiency |
How many people are affected by ZAP70-related severe combined immunodeficiency ? | ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000. | ZAP70-related severe combined immunodeficiency |
What are the genetic changes related to ZAP70-related severe combined immunodeficiency ? | As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. ... | ZAP70-related severe combined immunodeficiency |
Is ZAP70-related severe combined immunodeficiency 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. | ZAP70-related severe combined immunodeficiency |
What are the treatments for ZAP70-related severe combined immunodeficiency ? | These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resour... | ZAP70-related severe combined immunodeficiency |
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