HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Homozygous acute intermittent porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342858
Disease: Homozygous acute intermittent porphyria
Homozygous acute intermittent porphyria 		0.020 GeneticVariation disease BEFREE To find an explanation for survival of homozygous or compound heterozygous variants of acute intermittent porphyria, we studied the three mutant forms of porphobilinogen deaminase (PBG-d) described in the four reported patients with homozygous acute intermittent porphyria. 12699244 2002
CUI: C0342858
Disease: Homozygous acute intermittent porphyria
Homozygous acute intermittent porphyria 		0.020 GeneticVariation disease BEFREE Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. 1577472 1992