Protoporphyria, Erythropoietic
"Protoporphyria, Erythropoietic" 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 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.
| Descriptor ID |
D046351
|
| MeSH Number(s) |
C06.552.830.812 C16.320.850.742.812 C17.800.827.742.812 C18.452.811.400.812
|
| Concept/Terms |
Protoporphyria, Erythropoietic- Protoporphyria, Erythropoietic
- Erythropoietic Protoporphyrias
- Protoporphyrias, Erythropoietic
- Erythrohepatic Protoporphyria
- Erythropoietic Protoporphyria
Ferrochelatase Deficiency- Ferrochelatase Deficiency
- Deficiencies, Ferrochelatase
- Deficiency, Ferrochelatase
- Ferrochelatase Deficiencies
- Heme Synthetase Deficiency
- Deficiencies, Heme Synthetase
- Deficiency, Heme Synthetase
- Heme Synthetase Deficiencies
- Synthetase Deficiencies, Heme
- Synthetase Deficiency, Heme
|
Below are MeSH descriptors whose meaning is more general than "Protoporphyria, Erythropoietic".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Porphyrias, Hepatic [C06.552.830]
- Protoporphyria, Erythropoietic [C06.552.830.812]
- 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]
- Protoporphyria, Erythropoietic [C16.320.850.742.812]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyrias, Hepatic [C17.800.827.742]
- Protoporphyria, Erythropoietic [C17.800.827.742.812]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Protoporphyria, Erythropoietic [C18.452.811.400.812]
Below are MeSH descriptors whose meaning is more specific than "Protoporphyria, Erythropoietic".
This graph shows the total number of publications written about "Protoporphyria, Erythropoietic" by people in this website by year, and whether "Protoporphyria, Erythropoietic" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 2 | 0 | 2 |
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Below are the most recent publications written about "Protoporphyria, Erythropoietic" by people in Profiles.
-
Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report. Am J Transplant. 2018 03; 18(3):745-749.
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Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. J Inherit Metab Dis. 2017 05; 40(3):433-441.