| Descriptor English: | Porphyria, Variegate | ||||||
| Descriptor Spanish: |
Porfiria Variegata
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| Descriptor Portuguese: | Porfiria Variegada | ||||||
| Descriptor French: | Porphyrie variegata | ||||||
| Entry term(s): |
Deficiencies, Protoporphyrinogen Oxidase Deficiency, Ppox Porphyria Variegata Porphyria Variegate Porphyria Variegates Porphyria, South African Type Ppox Deficiencies Ppox Deficiency Protoporphyrinogen Oxidase Deficiency Variegate Porphyria Variegate, Porphyria Variegates, Porphyria |
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| Tree number(s): |
C06.552.830.625 C16.320.850.742.625 C17.800.827.742.625 C18.452.811.400.625 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D046350 | ||||||
| Scope note: | 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. |
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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 (1964-2004) 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: | 38625 | ||||||
| Unique ID: | D046350 | ||||||
| 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: | 2020/02/28 |
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Porphyria, Variegate
- Preferred
| Concept UI |
M0025972 |
| Scope note | 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. |
| Preferred term | Porphyria, Variegate |
| Entry term(s) |
Deficiencies, Protoporphyrinogen Oxidase Deficiency, Ppox Porphyria Variegata Porphyria Variegate Porphyria Variegates Porphyria, South African Type Ppox Deficiencies Ppox Deficiency Protoporphyrinogen Oxidase Deficiency Variegate Porphyria Variegate, Porphyria Variegates, Porphyria |
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