| nutritional type cerebellar atrophy | A restricted type of cerebellar cortical degeneration, affecting particularly the Purkinje cells of the anterior and superior vermis; probably caused by thiamin deficiency; most frequently seen in chronic alcoholics and then called alcoholic cerebellar degeneration. (05 Mar 2000) |
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| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| antibody deficiency syndrome | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
| carbonic anhydrase II deficiency syndrome | <syndrome> An inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis. Synonym: osteopetrosis with renal tubular acidosis. (05 Mar 2000) |
| cellular immunity deficiency syndrome | <syndrome> A syndrome marked by increased susceptibility to infection, especially to viral infection, associated with defective functioning of the mechanism responsible for acquired immunity of the cell-mediated kind. See: immunodeficiency. (05 Mar 2000) |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| multiple glandular deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| corpus luteum deficiency syndrome | <syndrome> Functional disturbances caused by insufficient ovarian luteinization; reflected by inadequate luteal phase endometrial response. (05 Mar 2000) |
| polyendocrine deficiency syndrome | <syndrome> Polyglandular deficiency syndrome, associated pathologic dysfunction of several endocrine glands, as in Schmidt's syndrome. (05 Mar 2000) |
| 17-hydroxylase deficiency syndrome | <syndrome> Congenital deficiency of adrenocortical, and possibly ovarian, steroid C-17a hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension and hypokalaemic alkalosis; absence of aldosterone secretion in such patients may indicate a multiple enzymic deficiency. (05 Mar 2000) |
| leukocyte-adhesion deficiency syndrome | <syndrome> Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (receptors, leukocyte-adhesion) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterised by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (12 Dec 1998) |
| adult lactase deficiency | Onset of lactase deficiency, with resulting milk intolerance and malabsorption, in adulthood. Inherited forms may not be manifested until adulthood; any process that damages the intestinal lining cells can cause lactase deficiency in adults. (05 Mar 2000) |
| alpha-1 antitrypsin deficiency | <chest medicine> Deficiency of the protease inhibitor alpha-1 antitrypsin, leads primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. The lack of this protein leads to damage of various organs, but mainly to the lung and liver. symptoms may become apparent at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant (12 Dec 1998) |
| alpha-1-proteinase deficiency | Absence of a serum proteinase inhibitor that may cause nodular non-suppurative panniculitis. (05 Mar 2000) |
| alpha-antitrypsin deficiency | <enzyme> A specific enzyme (alpha 1 antitrypsinase) that when absent genetically can result in panacinar emphysema (lung disease) and liver disease. There is no specific treatment for this condition other than supportive care for the liver and lung complications. Medications such as alpha-1proteinase inhibitor is given regularly to these patients. Incidence: approximately 1 in 10,000. (02 Jan 1998) |