ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
Disease: Acute intermittent porphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.030 Biomarker disease BEFREE Two of the porphyrias, aminolevulinate dehydratase deficiency porphyria and acute intermittent porphyria do not have cutaneous findings. 10604794 1999
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.030 Biomarker disease BEFREE New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state. 7067077 1982
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.030 GeneticVariation disease BEFREE These results provide evidence for a structural mutation of the gene specifying the enzyme PBG-S connected with a homozygous state of this new enzymatic type of hereditary acute porphyria. 7287003 1981