monogenic disorder

Definitions of monogenic disorder
  1. noun
    an inherited disease controlled by a single pair of genes
    synonyms: monogenic disease
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    SCID, severe combined immunodeficiency, severe combined immunodeficiency disease
    a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
    CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis
    the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
    Gaucher's disease
    a rare chronic disorder of lipid metabolism of genetic origin
    Huntington's chorea, Huntington's disease
    hereditary disease; develops in adulthood and ends in dementia
    Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophy
    hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
    neurofibromatosis, von Recklinghausen's disease
    autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
    crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease
    a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
    Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy
    a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
    Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia
    an inherited form of anemia caused by faulty synthesis of hemoglobin
    familial hypercholesterolemia
    congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
    SCID resulting from mutation of a gene that codes for adenosine deaminase
    X-SCID, X-linked SCID
    SCID in male children resulting from mutation of a gene that codes for a protein on the surface of T cells that allows them to develop a growth factor receptor
    Cooley's anaemia, Cooley's anemia, thalassaemia major, thalassemia major
    a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged
    type of:
    congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder
    a disease or disorder that is inherited genetically
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