 Porphyria, Hepatoerythropoietic
"Porphyria, Hepatoerythropoietic" 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 recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
| Descriptor ID |
D017121
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| MeSH Number(s) |
C06.552.830.437 C16.320.850.742.437 C17.800.827.742.437 C18.452.811.400.437
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| Concept/Terms |
Porphyria, Hepatoerythropoietic- Porphyria, Hepatoerythropoietic
- Hepatoerythropoietic Porphyrias
- Porphyrias, Hepatoerythropoietic
- Porphyria, Erythrohepatic
- Erythrohepatic Porphyria
- Erythrohepatic Porphyrias
- Porphyrias, Erythrohepatic
- Hepatoerythropoietic Porphyria
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Below are MeSH descriptors whose meaning is more general than "Porphyria, Hepatoerythropoietic".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Porphyrias, Hepatic [C06.552.830]
- Porphyria, Hepatoerythropoietic [C06.552.830.437]
- 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, Hepatoerythropoietic [C16.320.850.742.437]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyrias, Hepatic [C17.800.827.742]
- Porphyria, Hepatoerythropoietic [C17.800.827.742.437]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Porphyria, Hepatoerythropoietic [C18.452.811.400.437]
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Hepatoerythropoietic".
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