| Descriptor English: | Protoporphyria, Erythropoietic | ||||
| Descriptor Spanish: |
Protoporfiria Eritropoyética
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| Descriptor Portuguese: | Protoporfiria Eritropoética | ||||
| Descriptor French: | Protoporphyrie érythropoïétique | ||||
| Entry term(s): |
Deficiencies, Ferrochelatase Deficiencies, Heme Synthetase Deficiency, Ferrochelatase Deficiency, Heme Synthetase Erythrohepatic Protoporphyria Erythropoietic Protoporphyria Erythropoietic Protoporphyrias Ferrochelatase Deficiencies Ferrochelatase Deficiency Heme Synthetase Deficiencies Heme Synthetase Deficiency Protoporphyrias, Erythropoietic Synthetase Deficiencies, Heme Synthetase Deficiency, Heme |
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| Tree number(s): |
C06.552.830.812 C16.320.850.742.812 C17.800.827.742.812 C18.452.811.400.812 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D046351 | ||||
| Scope note: | An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. |
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| Annotation: | do not confuse with PORPHYRIA, ERYTHROPOIETIC |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification 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 |
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| Previous Indexing: |
Porphyria (1965-2004) Porphyria, Erythrohepatic (1993-2004) |
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| Public MeSH Note: | 2005; see PORPHYRIA, ERYTHROHEPATIC 1993-2004 |
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| History Note: | 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004 |
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| Related: |
Ferrochelatase
MeSH | ||||
| DeCS ID: | 38626 | ||||
| Unique ID: | D046351 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2005/01/01 | ||||
| Date of Entry: | 2004/07/15 | ||||
| Revision Date: | 2015/06/08 |
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Protoporphyria, Erythropoietic
- Preferred
Ferrochelatase Deficiency
- Related but not broader or narrower
| Concept UI |
M0026013 |
| Scope note | An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. |
| Preferred term | Protoporphyria, Erythropoietic |
| Entry term(s) |
Erythrohepatic Protoporphyria Erythropoietic Protoporphyria Erythropoietic Protoporphyrias Protoporphyrias, Erythropoietic |
| Concept UI |
M0536534 |
| Preferred term | Ferrochelatase Deficiency |
| Entry term(s) |
Deficiencies, Ferrochelatase Deficiencies, Heme Synthetase Deficiency, Ferrochelatase Deficiency, Heme Synthetase Ferrochelatase Deficiencies Heme Synthetase Deficiencies Heme Synthetase Deficiency Synthetase Deficiencies, Heme Synthetase Deficiency, Heme |
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