genetic disorder

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Related to Genetic disorders: Down syndrome, Angelman syndrome

genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic disorder - a disease or disorder that is inherited genetically
disease - an impairment of health or a condition of abnormal functioning
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
References in periodicals archive ?
However, numerous studies have proven that such marriages lead to genetic disorders that are detrimental to children who are conceived as a result.
KARACHI -- Marriages within close relations (cousin marriages) and within clans is a major cause of genetic disorders in Pakistan, experts said on Tuesday.
KARACHI: Karachi Indus Hospital Pediatrics Department Head Dr Muhammad Fareeduddin said on Tuesday that cousin marriages and marriages within clans are one of the major causes of genetic disorders in our country.
ALMOST half of all people suffering from rare genetic disorders don't know about their condition, according to an expert.
Human Fatemi Pre-implantation Genetic Diagnosis (PGD) has been instrumental in helping couples prevent the risk of having a child with genetic disorders, according to IVI Middle East Fertility Clinic.
Summary: New Delhi [India], September 1 (ANI): The medical science has given hope to the millions of couples who want to experience parenthood but couldn't do so because of various issues like physical deformities, infertility, and genetic disorders.
Dubai: Prevention and education are key to managing genetic disorders, said Dubai doctors.
today announced that the Proceedings of the National Academy of Sciences (PNAS) has published new results further validating Translarna's (ataluren) mechanism of action to promote readthrough of premature stop codons resulting from nonsense mutations in genetic disorders.
Genetic Disorders Sourcebook: Basic Consumer Health Information About Heritable Disorders, Including Disorders Resulting From Abnormalities in Specific Genes.
Metthew Ellinwood in the subject and pointed that there is no Diagnostic Center for diagnosis of Genetic Disorders the Province.
Consanguineous parents also have the risk of having a baby with genetic disorders.
He added that genetic disorders are the reasons for 10% of the newborn mortality and 52% for older children in the Sultanate.