genetic disorder


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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 ?
When the results from the diagnostic process are available, normal embryos without the genetic disorder are transferred into the mother's uterus.
Couple with a serious genetic disorder like Down's syndrome, Thalassemia etc.
Another case in point is neural tube defects, another common genetic disorder of the brain, spine, or spinal cord of new born babies, explained Dr Matar.
According to Dr Hanoosh, five to seven per cent of newborn babies in Oman are affected with a genetic disorder, compared to the global average of four per cent.
Gao cautions that the number of recessive disease mutations will vary from person to person, and the new number does not necessarily help predict a specific couple's risk for passing on a genetic disorder.
A critically important work, "Orphan" is strongly recommended for community and academic library "Health & Medicine" collections in general, and Child Genetic Disorder supplemental studies reading lists in particular.
We are delighted to be taking part in Jeans for Genes day alongside the other companies at Lakeview West, it is a really important charity working to make the lives of children effected by genetic disorder better.
A HEARTBROKEN father who lost his eightyear-old daughter to a rare genetic disorder has told how her fighting spirit has inspired him to bring festive cheer to other terminally-ill children.
Since these genetic disorder persists in our environments we need to develop a pragmatic approach to help the affectees maintain a life quality," said senior child specialist Dr.
Tawam Hospital, in affiliation with Johns Hopkins Medicine and part of the SEHA healthcare system, is one of the region's leading centres for oncology and genetic disorder research and treatment.
Summary: The 14-year-old sister of Coleen Rooney has died after a lifelong battle with a rare genetic disorder, a family spokesman said.
Pranav, a patient suffering from a rare genetic disorder called Gaucher was present at the event to share his story with the media and the masses.