Coproporphyria, Hereditary
"Coproporphyria, Hereditary" 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 COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth 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, 5-AMINOLEVULINATE and COPROPORPHYRINS.
| Descriptor ID |
D046349
|
| MeSH Number(s) |
C06.552.830.074 C16.320.850.742.074 C17.800.827.742.074 C18.452.811.400.074
|
| Concept/Terms |
Coproporphyria, Hereditary- Coproporphyria, Hereditary
- Hereditary Coproporphyria
- Coproporphyrinogen Oxidase Deficiency
- Deficiency, Coproporphyrinogen Oxidase
|
Below are MeSH descriptors whose meaning is more general than "Coproporphyria, Hereditary".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Porphyrias, Hepatic [C06.552.830]
- Coproporphyria, Hereditary [C06.552.830.074]
- 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]
- Coproporphyria, Hereditary [C16.320.850.742.074]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyrias, Hepatic [C17.800.827.742]
- Coproporphyria, Hereditary [C17.800.827.742.074]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Coproporphyria, Hereditary [C18.452.811.400.074]
Below are MeSH descriptors whose meaning is more specific than "Coproporphyria, Hereditary".
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