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GENATLAS PHENOTYPE |
last update : 30/09/2005 |
Symbol | ALADD |
Location | 9q33.3 |
Name | ALAD deficiency |
Other name(s) | Doss porphyria porphyria, acute, hepatic |
Corresponding gene | ALAD |
Main clinical features | ALAD-deficient porphyria had remarkably distinct phenotypes, ranging from a severe affection with failure to thrive to an essentially asymptomatic form |
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/porphyrin and heme |
Type | disease |
Remark(s) | porphyria-associated PBGS variants are found to shift the morpheein equilibrium for PBGS toward the less active hexamer and ALAD porphyria is the first example of a morpheein-based conformational disease |