- Types:
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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
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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
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Gaucher's disease
a rare chronic disorder of lipid metabolism of genetic origin
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Huntington's chorea, Huntington's disease
hereditary disease; develops in adulthood and ends in dementia
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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
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neurofibromatosis, von Recklinghausen's disease
autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
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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
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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
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Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia
an inherited form of anemia caused by faulty synthesis of hemoglobin
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familial hypercholesterolemia
congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
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ADA-SCID
SCID resulting from mutation of a gene that codes for adenosine deaminase
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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
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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
