| Descriptor English: | Porphyria, Hepatoerythropoietic | ||||||
| Descriptor Spanish: |
Porfiria Hepatoeritropoyética
| ||||||
| Descriptor Portuguese: | Porfiria Hepatoeritropoética | ||||||
| Descriptor French: | Porphyrie hépatoérythropoïétique | ||||||
| Entry term(s): |
Erythrohepatic Porphyria Erythrohepatic Porphyrias Hepatoerythropoietic Porphyria Hepatoerythropoietic Porphyrias Porphyria, Erythrohepatic Porphyrias, Erythrohepatic Porphyrias, Hepatoerythropoietic |
||||||
| Tree number(s): |
C06.552.830.437 C16.320.850.742.437 C17.800.827.742.437 C18.452.811.400.437 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017121 | ||||||
| Scope note: | 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. |
||||||
| Annotation: | do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Previous Indexing: |
Porphyria (1966-1992) |
||||||
| Public MeSH Note: | 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004 |
||||||
| History Note: | 2005 (1993) |
||||||
| DeCS ID: | 30607 | ||||||
| Unique ID: | D017121 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1993/01/01 | ||||||
| Date of Entry: | 1992/05/22 | ||||||
| Revision Date: | 2015/06/05 |
|
|
Porphyria, Hepatoerythropoietic
- Preferred
| Concept UI |
M0026014 |
| Scope note | 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. |
| Preferred term | Porphyria, Hepatoerythropoietic |
| Entry term(s) |
Erythrohepatic Porphyria Erythrohepatic Porphyrias Hepatoerythropoietic Porphyria Hepatoerythropoietic Porphyrias Porphyria, Erythrohepatic Porphyrias, Erythrohepatic Porphyrias, Hepatoerythropoietic |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
