loading...| Preferred Name |
hepatic porphyria |
|
| Synonyms |
acute hepatic porphyria acute porphyria hepatic Porphyrias porphyria, hepatic hepatic porphyria Delta-aminolevulinate dehydratase deficiency porphyria of liver liver porphyria porphobilinogen synthase deficiency ALAD deficiency |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0002520 |
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| altLabel |
acute hepatic porphyria acute porphyria hepatic Porphyrias porphyria, hepatic hepatic porphyria Delta-aminolevulinate dehydratase deficiency porphyria of liver liver porphyria porphobilinogen synthase deficiency ALAD deficiency |
|
| definition |
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. |
|
| has_exact_synonym |
hepatic porphyria Delta-aminolevulinate dehydratase deficiency porphyria of liver liver porphyria porphobilinogen synthase deficiency ALAD deficiency |
|
| has_narrow_synonym |
acute hepatic porphyria |
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| has_related_synonym |
acute porphyria hepatic Porphyrias porphyria, hepatic |
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| label |
hepatic porphyria |
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| prefixIRI |
MONDO:0002520 |
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| prefLabel |
hepatic porphyria |
|
| textual definition |
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. |
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| subClassOf |