loading...| Preferred Name |
COPROPORPHYRIA, HEREDITARY |
|
| Synonyms |
HCP |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/121300 |
|
| altLabel |
HCP CPOX DEFICIENCY COPROPORPHYRINOGEN OXIDASE DEFICIENCY CPO DEFICIENCY CPX DEFICIENCY |
|
| cui |
C0162531 |
|
| Gene Locus |
3q12 |
|
| Gene Symbol |
HARPO CPOX |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU067084 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU036871 http://purl.bioontology.org/ontology/OMIM/MTHU067081 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU067080 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU067083 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU013195 http://purl.bioontology.org/ontology/OMIM/MTHU002068 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
121300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
COPROPORPHYRIA, HEREDITARY |
|
| Scope Statement |
Caused by mutation in the coproporphyrinogen oxidase gene (CPO, 612732.0001) [MOLECULAR BASIS] Coproporphyria is a form of hepatic porphyria [MISCELLANEOUS] Neurovisceral symptoms manifest during episodic, acute attacks [MISCELLANEOUS] Precipitating factors include: certain drugs, alcohol, menstrual cycle, and fasting [MISCELLANEOUS] Many individuals are asymptomatic (incomplete penetrance) [MISCELLANEOUS] Symptoms rare before puberty [MISCELLANEOUS] |
|
| tui |
T047 |