Congenital analbuminemia

GPTKB entity

Statements (20)
Predicate Object
gptkbp:instanceOf gptkb:rare_disease
gptkbp:affects both sexes
gptkbp:cause complications in pregnancy
delayed growth in children
gptkbp:diagnosedBy genetic testing
serum albumin measurement
gptkbp:firstDescribed 1954
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:ALB_gene
gptkbp:OMIM #103600
gptkbp:prevalence extremely rare
gptkbp:symptom edema
fatigue
hyperlipidemia
very low or absent serum albumin
gptkbp:treatment dietary management
albumin infusions
gptkbp:bfsParent gptkb:P22303
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Congenital analbuminemia

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