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.
MeSH Number(s)
C16.320.565.708.250
C16.320.850.738
C17.800.827.738
C17.800.849.617.250
C18.452.648.708.250
C18.452.811.250
C18.452.880.617.250
Concept/Terms
Porphyria, Erythropoietic- Porphyria, Erythropoietic
- Erythropoietic Porphyrias
- Porphyrias, Erythropoietic
- Porphyria, Erythropoietic, Congenital
- Gunther Disease
- Gunther's Disease
- Gunthers Disease
- Congenital Erythropoietic Porphyria
- Congenital Erythropoietic Porphyrias
- Erythropoietic Porphyria, Congenital
- Erythropoietic Porphyrias, Congenital
- Porphyria, Congenital Erythropoietic
- Porphyrias, Congenital Erythropoietic
- Erythropoietic Porphyria
Below are MeSH descriptors whose meaning is more general than "Porphyria, Erythropoietic".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Porphyrias [C16.320.565.708]
- Porphyria, Erythropoietic [C16.320.565.708.250]
- Skin Diseases, Genetic [C16.320.850]
- Porphyria, Erythropoietic [C16.320.850.738]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyria, Erythropoietic [C17.800.827.738]
- Skin Diseases, Metabolic [C17.800.849]
- Porphyrias [C17.800.849.617]
- Porphyria, Erythropoietic [C17.800.849.617.250]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Porphyrias [C18.452.648.708]
- Porphyria, Erythropoietic [C18.452.648.708.250]
- Porphyrias [C18.452.811]
- Porphyria, Erythropoietic [C18.452.811.250]
- Skin Diseases, Metabolic [C18.452.880]
- Porphyrias [C18.452.880.617]
- Porphyria, Erythropoietic [C18.452.880.617.250]
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 Harvard Catalyst Profiles by year, and whether "Porphyria, Erythropoietic" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 0 | 1 | 1 |
Below are the most recent publications written about "Porphyria, Erythropoietic" by people in Profiles.
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Porphyrias and photosensitivity: pathophysiology for the clinician. Postgrad Med. 2018 Nov; 130(8):673-686.
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Mutation in human CLPX elevates levels of d-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 09 19; 114(38):E8045-E8052.
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Perianal Ulceration in a Young Woman. Am J Dermatopathol. 2016 Sep; 38(9):683-4.
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Manifestations and treatment of the hand in adult congenital erythropoietic porphyria. J Clin Rheumatol. 2013 Oct; 19(7):402-4.
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ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011 Aug 11; 118(6):1443-51.
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Severe neonatal congenital erythropoietic porphyria. Pediatr Dermatol. 2011 Jul-Aug; 28(4):416-20.
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Scleral necrosis in a patient with congenital erythropoietic porphyria. Cornea. 2011 Jan; 30(1):97-9.
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Congenital erythropoietic porphyria: anesthetic implications. J Anesth. 2009; 23(4):569-71.
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Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007 Mar 15; 109(6):2618-21.
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Cysteine ameliorates photosensitivity in erythropoietic protoporphyria. Arch Dermatol. 1993 Oct; 129(10):1350-1.