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".
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