| LiverAtlas Disease ID | HuLDi00105 |
| Name | Variegate porphyria |
| Description | | Xref: |
| Definition | 1.An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. | Xref: MeSH2011_6_17:D046350 |
| 2.An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight. | Xref: UMLS2011AA:C0162532 |
|
| Synonym | Deficiencies, Protoporphyrinogen Oxidase | EXACT | Xref: MeSH2011_6_17:D046350 |
| Porphyria Variegate | EXACT | Xref: MeSH2011_6_17:D046350 |
| Porphyria Variegates | EXACT | Xref: MeSH2011_6_17:D046350 |
| Porphyria, Variegate | EXACT | Xref: MeSH2011_6_17:D046350 |
| Protoporphyrinogen Oxidase Deficiency | EXACT | Xref: MeSH2011_6_17:D046350 |
| Protoporphyrinogen oxidase deficiency | EXACT | Xref: SNOMEDCT_2005_07_31:276264004 |
| Variegate Porphyria | EXACT | Xref: MeSH2011_6_17:D046350, UMLS2011AA:C0162532 |
| variegate porphyria | EXACT | Xref: HumanDO2011_6_18:DOID:4346 |
| Variegate, Porphyria | EXACT | Xref: MeSH2011_6_17:D046350 |
| Variegates, Porphyria | EXACT | Xref: MeSH2011_6_17:D046350 |
|
| Xref | Clinical Hepatology,2004.Page 613 |
| HumanDO2011_6_18:DOID:4346 |
| MeSH2011_6_17:D046350 |
| UMLS2011AA:C0162532 |
|
| Genetics Relation | Gene/Protein/Pathway |
| Gene:PPOX |
| Gene:HFE |
| Protein: |
| Protein: |
|
