"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".
This graph shows the total number of publications written about "Porphyria, Variegate" by people in this website by year, and whether "Porphyria, Variegate" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Porphyria, Variegate" by people in Profiles.
-
An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia. Intern Emerg Med. 2018 Dec; 13(8):1233-1238.