genetic disorder

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Related to Single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases

genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic disorder - a disease or disorder that is inherited genetically
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
polygenic disease, polygenic disorder - an inherited disease controlled by several genes at once
achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
congenital megacolon, Hirschsprung's disease - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
hyperbetalipoproteinemia - a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
ichthyosis - any of several congenital diseases in which the skin is dry and scaly like a fish
branched chain ketoaciduria, maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
McArdle's disease - an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
oligodactyly - congenital condition in which some fingers or toes are missing
oligodontia - congenital condition in which some of the teeth are missing
otosclerosis - hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
congenital pancytopenia, Fanconi's anaemia, Fanconi's anemia - a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
juvenile amaurotic idiocy, Spielmeyer-Vogt disease - a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
congenital afibrinogenemia - a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
Albers-Schonberg disease, marble bones disease, osteopetrosis - an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
nevoid elephantiasis, pachyderma - thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
dwarfism, nanism - a genetic abnormality resulting in short stature
lactase deficiency, lactose intolerance, milk intolerance - congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
hepatolenticular degeneration, Wilson's disease - a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
References in periodicals archive ?
Ten blood samples were collected from pregnancies at risk of a single-gene disorder. Samples were collected in cfDNA Streck tubes (3 tubes, approximately 30 mL).
MODY is a single-gene disorder that causes diabetes.
While Marfan is a single-gene disorder, it results from any of the 600 identified mutations that manifest as a spectrum of subtle differences in symptoms from one patient to the next.
A single-gene disorder is caused by a mutation of the gene.
The risk of inheriting a multifactorial disorder is lower than the risl of inheriting a single-gene disorder from an affected parent.
Despite the thousands of single-gene tests on the market, diagnosticians estimate that clear mutations are not found in 30% to 50% of patients tested who present with a single-gene disorder. This low sensitivity can be explained in part by an incomplete understanding of all of the genes that cause monogenic disease--we understand the genetic basis of the most prevalent ~2,000 out of ~4,000 diseases-and in part by a failure to explain a patient's variant, when identified, as causal for the disease.
Whether PGD is planned for investigating a single-gene disorder or a chromosome translocation, detailed consultation with the woman or the couple is important.
Thalassaemia is the most common single-gene disorder found in the Indian descendents in Natal.
Mutations in the genes coding for the [beta] and [gamma] subunits of ENaC have been implicated in Liddle syndrome (pseudohyperaldosteronism), an autosomal-dominantly inherited single-gene disorder in which increased reabsorption of sodium and water in the renal tubule leads to hypertension (12).
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.
"Gene therapy for single-gene disorders is at a formative stage in its evolution, and the initial data we've seen in our study for Duchenne muscular dystrophy may exemplify the potential for this modality to change patients' lives," said Seng Cheng, senior vice president and chief scientific officer of Pfizer's Rare Disease Research Unit.