porphyria
41acute intermittent porphyria — (AIP) an autosomal dominant hepatic porphyria caused by mutation in the HMBS gene (locus: 11q23.3), which encodes hydroxymethylbilane synthase; it is manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic… …
42congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… …
43hepatoerythropoietic porphyria — (HEP) a severe homozygous form of porphyria cutanea tarda (PCT) type II, believed to result from an autosomal dominant defect in uroporphyrinogen decarboxylase activity; it is clinically identical to PCT but onset is in early childhood and enzyme …
44mixed porphyria — South African genetic porphyria variegate p …
45Amanita porphyria — …
46acute porphyria — acute intermittent p …
47congenital photosensitive porphyria — congenital erythropoietic p …
48cutaneous hepatic porphyria — p. cutanea tarda …
49intermittent acute porphyria — acute intermittent p …
50Swedish porphyria — former name for acute intermittent p …