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classic homocystinuria

Disease Summary
Associated Targets (4)
Tbio

2

Tchem

1

Tdark

1


GARD Rare
Mondo Description Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
Uniprot Description An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.
Mondo Term and Equivalent IDs
MONDO:0009352:  classic homocystinuria
GARD:0006667: 
Orphanet:394: 
SCTID:24308003: 
UMLS:C0751202: