loading...| Preferred Name |
PORPHYRIA, ACUTE INTERMITTENT |
|
| Synonyms |
PBGD DEFICIENCY UROPORPHYRINOGEN SYNTHASE DEFICIENCY UPS DEFICIENCY PORC PORPHYRIA, CHESTER TYPE PORPHYRIA, SWEDISH TYPE AIP PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT PORPHOBILINOGEN DEAMINASE DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/176000 |
|
| altLabel |
PBGD DEFICIENCY UROPORPHYRINOGEN SYNTHASE DEFICIENCY UPS DEFICIENCY PORC PORPHYRIA, CHESTER TYPE PORPHYRIA, SWEDISH TYPE AIP PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT PORPHOBILINOGEN DEAMINASE DEFICIENCY |
|
| cui |
C2936779 C0268322 C1867969 C0162565 |
|
| Gene Locus |
11q23.3 |
|
| Gene Symbol |
HMBS PBGD UPS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014551 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU037118 http://purl.bioontology.org/ontology/OMIM/MTHU036871 http://purl.bioontology.org/ontology/OMIM/MTHU016061 http://purl.bioontology.org/ontology/OMIM/MTHU004078 http://purl.bioontology.org/ontology/OMIM/MTHU006664 http://purl.bioontology.org/ontology/OMIM/MTHU016055 http://purl.bioontology.org/ontology/OMIM/MTHU016060 http://purl.bioontology.org/ontology/OMIM/MTHU016058 http://purl.bioontology.org/ontology/OMIM/MTHU016054 http://purl.bioontology.org/ontology/OMIM/MTHU037119 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU016056 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU037117 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU016059 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU016053 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU002455 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
176010 |
|
| notation |
176000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PORPHYRIA, ACUTE INTERMITTENT |
|
| Scope Statement |
Attacks precipitated by drugs (e.g. barbiturates, sulfonamides), alcohol, infection, starvation, and hormonal changes [MISCELLANEOUS] Acute attacks rarely occur before puberty [MISCELLANEOUS] Attacks more common in women [MISCELLANEOUS] Ninety percent of patients with PBG deaminase deficiency are clinically unaffected [MISCELLANEOUS] Caused by mutation in the hydroxymethylbilane synthase gene (HMBS, 609806.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |