You are using an outdated browser. Please upgrade your browser to improve your experience.

congenital analbuminemia

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
Uniprot Description A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides.
Mondo Term and Equivalent IDs
MONDO:0014449:  congenital analbuminemia
GARD:0013056: 
NCIT:C124851: 
Orphanet:86816: 
SCTID:718721006: 
UMLS:C4305253: