Genetic Diseases, Inborn
| 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. |
| 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 Definitions and Terms
MedicalGlossary.org is designed as a free, browsable resource for all. The medical terms and definitions are not intended to replace medical informaion provided by licensed healthcare professionals. Please see a doctor if you need medical assistance. Don't see the medical term you were researching? Send us an e-mail from our "about us" page. We will do our best to research and classify new medical terms in a timely manner. Our current list of medical terms is over 26,000. Data sources include the U.S. National Library of Medicine, 2004 Medical Subject Headings.
|
