Porphyria, Erythropoietic
"Porphyria, 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 recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
| Descriptor ID |
D017092
|
| MeSH Number(s) |
C16.320.850.738 C17.800.827.738 C18.452.811.250
|
| Concept/Terms |
Porphyria, Erythropoietic- Porphyria, Erythropoietic
- Erythropoietic Porphyrias
- Porphyrias, Erythropoietic
- Erythropoietic Porphyria
- Porphyria, Erythropoietic, Congenital
- Gunther's Disease
- Gunthers Disease
- Porphyria, Congenital Erythropoietic
- Congenital Erythropoietic Porphyria
- Congenital Erythropoietic Porphyrias
- Erythropoietic Porphyria, Congenital
- Erythropoietic Porphyrias, Congenital
- Porphyrias, Congenital Erythropoietic
- Gunther Disease
|
Below are MeSH descriptors whose meaning is more general than "Porphyria, Erythropoietic".
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Erythropoietic".
This graph shows the total number of publications written about "Porphyria, Erythropoietic" by people in this website by year, and whether "Porphyria, Erythropoietic" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 2 | 0 | 2 |
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Below are the most recent publications written about "Porphyria, Erythropoietic" by people in Profiles.
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Scleritis in congenital erythropoietic porphyria - infective or inflammatory? Indian J Ophthalmol. 2018 Oct; 66(10):1467-1468.
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Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria. Hell J Nucl Med. 2018 Jan-Apr; 21(1):43-47.