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Hepatic porphyria
rareA 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.
- Identifiers
- MONDO:0002520 Orphanet:659694
- Part of
- Liver disorderPorphyria
- Also known as
- acute porphyria · ALAD deficiency · Delta-aminolevulinate dehydratase deficiency · hepatic Porphyrias · liver porphyria
Subtypes
Disease Rare Not rare Subtypes
- HMBS-related hepatic porphyria MONDO:0700382 HMBS 4
- Erythropoietic protoporphyria MONDO:0001676 4
- Porphyria cutanea tarda MONDO:0015104 3
- PPOX-related hepatic porphyria MONDO:0700383 PPOX 2
- Hepatic cutaneous porphyria MONDO:0971154
- Hereditary coproporphyria MONDO:0007369 CPOX
- Porphyria due to ALA dehydratase deficiency MONDO:0013000 ALAD
Projects
Including projects on subtypes.
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