| Descriptor English: | Coproporphyria, Hereditary | ||||
| Descriptor Spanish: |
Coproporfiria Hereditaria
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| Descriptor Portuguese: | Coproporfiria Hereditária | ||||
| Descriptor French: | Coproporphyrie héréditaire | ||||
| Entry term(s): |
Coproporphyrinogen Oxidase Deficiency Deficiency, Coproporphyrinogen Oxidase Hereditary Coproporphyria |
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| Tree number(s): |
C06.552.830.074 C16.320.850.742.074 C17.800.827.742.074 C18.452.811.400.074 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D046349 | ||||
| Scope note: | An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth 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, 5-AMINOLEVULINATE and COPROPORPHYRINS. |
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| 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 |
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| Previous Indexing: |
Porphyria (1965-2004) Porphyria, Hepatic (1993-2004) |
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| Public MeSH Note: | 2005; see PORPHYRIA, HEPATIC 1993-2004 |
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| History Note: | 2005; use PORPHYRIA, HEPATIC 1993-2004 |
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| DeCS ID: | 38624 | ||||
| Unique ID: | D046349 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2005/01/01 | ||||
| Date of Entry: | 2004/07/07 | ||||
| Revision Date: | 2015/06/08 |
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Coproporphyria, Hereditary
- Preferred
| Concept UI |
M0025971 |
| Scope note | An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth 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, 5-AMINOLEVULINATE and COPROPORPHYRINS. |
| Preferred term | Coproporphyria, Hereditary |
| Entry term(s) |
Coproporphyrinogen Oxidase Deficiency Deficiency, Coproporphyrinogen Oxidase Hereditary Coproporphyria |
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