GENETIC DEFECT

IPA (US):

 Dictionary entry overview: What does genetic defect mean? 

• GENETIC DEFECT (noun)
  The noun GENETIC DEFECT has 1 sense:

1. a disease or disorder that is inherited genetically

  Familiarity information: GENETIC DEFECT used as a noun is very rare.

 Dictionary entry details 

• GENETIC DEFECT (noun)

Sense 1

Meaning:

A disease or disorder that is inherited genetically

Classified under:

Nouns denoting stable states of affairs

Synonyms:

congenital disease; genetic abnormality; genetic defect; genetic disease; genetic disorder; hereditary condition; hereditary disease; inherited disease; inherited disorder

Hypernyms ("genetic defect" is a kind of...):

disease (an impairment of health or a condition of abnormal functioning)

Hyponyms (each of the following is a kind of "genetic defect"):

oligodontia (congenital condition in which some of the teeth are missing)

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)

porphyria (a genetic abnormality of metabolism causing abdominal pains and mental confusion)

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)

dwarfism; nanism (a genetic abnormality resulting in short stature)

nevoid elephantiasis; pachyderma (thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction)

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)

congenital afibrinogenemia (a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma)

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 pancytopenia; Fanconi's anaemia; Fanconi's anemia (a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow)

autosomal recessive defect; autosomal recessive disease (a disease caused by the presence of two recessive mutant genes on an autosome)

autosomal dominant disease; autosomal dominant disorder (a disease caused by a dominant mutant gene on an autosome)

otosclerosis (hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness)

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

oligodactyly (congenital condition in which some fingers or toes are missing)

dystrophy; muscular dystrophy (any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles)

McArdle's disease (an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping)

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)

ichthyosis (any of several congenital diseases in which the skin is dry and scaly like a fish)

hyperbetalipoproteinemia (a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age)

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)

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)

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)

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)

achondroplasia; achondroplasty; chondrodystrophy; osteosclerosis congenita (an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism)

polygenic disease; polygenic disorder (an inherited disease controlled by several genes at once)

 Context examples 

Description of disease and disease processes based upon the underlying protein and genetic defects rather than by a description of morphology.

(Molecular Pathology, NCI Thesaurus)

Genetic defects that completely block the urea cycle are not observed in people, perhaps since such a defect would be fatal.

(Feeding Amino Groups into the Urea Cycle, NCI Thesaurus/BIOCARTA)

Meckel syndrome is a ciliopathy so dangerous that babies with the genetic defect rarely make it to term.

(Protein critical to cilia development, NIH)

The condition arises from a genetic defect that alters the structure of hemoglobin, the oxygen-carrying protein found in red blood cells.

(Stem cell transplant reverses sickle cell disease in adults, NIH)

Amplification and/or mutation of the epidermal growth factor receptor (EGFR) is the most frequently detected genetic defect that is associated with primary GBM.

(Glioblastoma Multiforme Pathway, NCI Thesaurus/KEGG)

Large polyglutamine repeats in the huntingtin protein are the genetic defect responsible for this condition, caused by expansion of a three-base pair repeat in the gene.

(Inhibition of Huntington's Disease Pathway, NCI Thesaurus/BIOCARTA)

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.

(Congenital Metabolic Disorder, NCI Thesaurus)

The importance of amino acid degradation is demonstrated by a genetic defect in serine hydroxymethyl transferase.

(Catabolic Pathways for Alanine, Glycine, Serine, Cysteine, Tryptophan, and Threonine, NCI Thesaurus/BIOCARTA)

The extraction of placenta tissue containing the chorionic villi from the maternal uterus in early pregnancy to screen for fetal genetic defects.

(Chorionic Villus Sampling, NCI Thesaurus)

Questions remaining include the cause of the lack of effective ubiquitination in individuals lacking obvious genetic defects in this pathway and how to use this knowledge of ubiquitination and protein degradation in Parkinson's disease to identify therapeutic strategies.

(Parkinson's Disease Pathway BioCarta, NCI Thesaurus/BIOCARTA)