Preferred Label : Hyperhomocysteinemia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine.
Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine
and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine,
whether free or bound to proteins (Malinow and Stampfer, 1994). Hyperhomocysteinemia
in isolation may be associated with an increased risk of atherosclerosis and recurrent
arterial and venous thrombosis usually in the third or fourth decade of life (review
by Welch and Loscalzo, 1998). Homocysteinemia is also a feature of several inherited
metabolic disorders, including homocystinuria (236200), due to mutation in the CBS
gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250),
caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and
megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism,
which have been classified according to complementation groups of cells in vitro;
see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic
aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD
(277410), and cblF (277380).;
Prefixed ID : 603174;
Origin ID : 603174;
UMLS CUI : C0598608;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
