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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620483
http://purl.bioontology.org/ontology/OMIM/620483
|
|---|---|
| Preferred Name | VARIEGATE PORPHYRIA, CHILDHOOD-ONSET |
| Synonyms |
VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
VPCO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
VPCO
|
|---|---|
| prefLabel | VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
|
| Gene Symbol |
VP
VPCO
PPOX
|
| Scope Statement | Onset before 18 months of age [MISCELLANEOUS]
Heterozygous relatives may exhibit cutaneous or neurovisceral attacks [MISCELLANEOUS]
Caused by mutation in the protoporphyrinogen oxidase gene (PPOX, 600923.0007) [MOLECULAR BASIS]
Patients rarely experience acute neuropsychiatric or abdominal attacks [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620483
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5882681
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |