"Hepatoerythropoietic porphyria" information
| LiverAtlas Disease ID | HuLDi00102 | ||
| Name | Hepatoerythropoietic porphyria | ||
| Description | Xref: | ||
| Definition | 1.An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating. | Xref: MeSH2011_6_17:D017121 | |
| 2.A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme uroporphyrinogen III. Signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation. | Xref: UMLS2011AA:C0162569 | ||
| Synonym | Erythrohepatic Porphyria | EXACT | Xref: MeSH2011_6_17:D017121 |
| Erythrohepatic Porphyrias | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Hepatoerythropoietic Porphyria | EXACT | Xref: MeSH2011_6_17:D017121, UMLS2011AA:C0162569 | |
| hepatoerythropoietic porphyria | EXACT | Xref: HumanDO2011_6_18:DOID:5230 | |
| Hepatoerythropoietic Porphyrias | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Porphyria, Erythrohepatic | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Porphyria, Hepatoerythropoietic | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Porphyrias, Erythrohepatic | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Porphyrias, Hepatoerythropoietic | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Homozygous porphyria cutanea tarda | EXACT | Xref: MeSH2011_6_17:D017121 | |
| Xref | Clinical Hepatology,2004.Page 614 | ||
| HumanDO2011_6_18:DOID:5230 | |||
| MeSH2011_6_17:D017121 | |||
| UMLS2011AA:C0162569 | |||
| Genetics Relation | Gene/Protein/Pathway | ||
| Gene:UROD | |||
| Protein: | |||
