Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn Terms and Definitions

Genetic Diseases, Inborn

Medical Definition:	Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Guide Notes:	GEN only: prefer /genet with specific diseases; Manual 23.22+; Manual 19.8.34
Also Called:	Hereditary Diseases,Single-Gene Defects

Genetic Diseases, Inborn Categories.

	Adrenal Hyperplasia, Congenital - A group of syndromes caused by inherited defects in cortisol (HYDROCORTISONE) and/or ALDOSTERONE biosynthesis. There are several types including simple virilizing forms (adrenogenital syndrome), salt-wasting forms, and virilizing hypertension forms depending on the enzyme of defects. Defects in STEROID 21-HYDROXYLASE are most common. Other defects occur in STEROID 11-BETA-HYDROXYLASE, STEROID 17-ALPHA-HYDROXYLASE, or 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES).
	Genetic Diseases, X-Linked - Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
	Metabolism, Inborn Errors - Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
	Skin Diseases, Genetic - Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
	Werner Syndrome - An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.

Genetic Diseases, Inborn Medical Definitions and Terms

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