hepatic porphyria
A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
MONDO:0016133
obsolete rare hereditary metabolic disease with peripheral neuropathy (obsolete MONDO:0016133)
excluded_subClassOf
MONDO:0019142
inherited porphyria
excluded_subClassOf
MONDO:0024255
obsolete genetic skin disease (obsolete MONDO:0024255)
excluded_subClassOf
MONDO:0005154
liver disorder
is_a
MONDO:0037939
porphyria
is_a
ALAD deficiency
exact
Delta-aminolevulinate dehydratase deficiency
exact
acute hepatic porphyria
narrow
acute porphyria
related
hepatic Porphyrias
related
hepatic porphyria
exact
liver porphyria
exact
porphobilinogen synthase deficiency
exact
porphyria of liver
exact
porphyria, hepatic
related
SPAC222.11 SPAC24B11.13 SPAC1F5.07c SPCC320.09 SPAC2F3.09 SPAC1805.06c SPCC4B3.05c