loading...| Preferred Name |
hepatic porphyria |
|
| Synonyms |
acute hepatic porphyria porphyria, hepatic acute porphyria hepatic Porphyrias porphyria of liver liver porphyria hepatic porphyria porphobilinogen synthase deficiency Delta-aminolevulinate dehydratase deficiency ALAD deficiency |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0002520 |
|
| database_cross_reference |
Orphanet:95157 SCTID:55056006 GTR:AN0932921 MESH:D017094 UMLS:C0162533 DOID:3133 GARD:19255 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_95157 http://purl.obolibrary.org/obo/DOID_3133 http://identifiers.org/snomedct/55056006 |
|
| has_exact_synonym |
porphyria of liver liver porphyria hepatic porphyria porphobilinogen synthase deficiency Delta-aminolevulinate dehydratase deficiency ALAD deficiency |
|
| has_narrow_synonym |
acute hepatic porphyria |
|
| has_related_synonym |
porphyria, hepatic acute porphyria hepatic Porphyrias |
|
| id |
MONDO:0002520 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hepatic porphyria |
|
| notation |
MONDO:0002520 |
|
| preferred label |
hepatic porphyria |
|
| prefLabel |
hepatic porphyria |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019142 |