loading...| Preferred Name |
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 |
| Synonyms |
PROTOPORPHYRIA, ERYTHROPOIETIC |
| ID |
http://purl.bioontology.org/ontology/OMIM/177000 |
| altLabel |
PROTOPORPHYRIA, ERYTHROPOIETIC ERYTHROHEPATIC PROTOPORPHYRIA EPP1 EPP HEME SYNTHETASE DEFICIENCY FERROCHELATASE DEFICIENCY |
| cui |
C0349426 C0162568 C4692546 |
| Gene Locus |
18q21.3 |
| Gene Symbol |
EPP1 FCE FECH |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002596 http://purl.bioontology.org/ontology/OMIM/MTHU000002 http://purl.bioontology.org/ontology/OMIM/MTHU007721 http://purl.bioontology.org/ontology/OMIM/MTHU041456 http://purl.bioontology.org/ontology/OMIM/MTHU015891 http://purl.bioontology.org/ontology/OMIM/MTHU015589 http://purl.bioontology.org/ontology/OMIM/MTHU015893 http://purl.bioontology.org/ontology/OMIM/MTHU015890 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU041455 http://purl.bioontology.org/ontology/OMIM/MTHU012534 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
177000 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 |
| Scope Statement |
Caused by mutation in the ferrochelatase gene (FECH, 612386.0001) [MOLECULAR BASIS] Can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation (612386.0015) that is prevalent in some populations [MISCELLANEOUS] Onset usually before age 10 years [MISCELLANEOUS] Compound heterozygosity common [MISCELLANEOUS] |
| tui |
T047 |