"Porphyria, Variegate" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D046350
|
| MeSH Number(s) |
C06.552.830.625 C16.320.850.742.625 C17.800.827.742.625 C18.452.811.400.625
|
| Concept/Terms |
Porphyria, Variegate- Porphyria, Variegate
- Porphyria Variegata
- Porphyria Variegate
- Porphyria Variegates
- Variegate, Porphyria
- Variegates, Porphyria
- Ppox Deficiency
- Protoporphyrinogen Oxidase Deficiency
- Deficiencies, Protoporphyrinogen Oxidase
- Variegate Porphyria
|
Below are MeSH descriptors whose meaning is more general than "Porphyria, Variegate".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Porphyrias, Hepatic [C06.552.830]
- Porphyria, Variegate [C06.552.830.625]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Skin Diseases, Genetic [C16.320.850]
- Porphyrias, Hepatic [C16.320.850.742]
- Porphyria, Variegate [C16.320.850.742.625]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyrias, Hepatic [C17.800.827.742]
- Porphyria, Variegate [C17.800.827.742.625]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Porphyria, Variegate [C18.452.811.400.625]
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Variegate".
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