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.
MeSH Number(s)
C06.552.830.812
C16.320.565.708.400.812
C16.320.850.742.812
C17.800.827.742.812
C17.800.849.617.400.812
C18.452.648.708.400.812
C18.452.811.400.812
C18.452.880.617.400.812
Concept/Terms
Protoporphyria, Erythropoietic- Protoporphyria, Erythropoietic
- Erythropoietic Protoporphyrias
- Protoporphyrias, Erythropoietic
- 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]
- Metabolism, Inborn Errors [C16.320.565]
- Porphyrias [C16.320.565.708]
- Porphyrias, Hepatic [C16.320.565.708.400]
- Protoporphyria, Erythropoietic [C16.320.565.708.400.812]
- 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]
- Skin Diseases, Metabolic [C17.800.849]
- Porphyrias [C17.800.849.617]
- Porphyrias, Hepatic [C17.800.849.617.400]
- Protoporphyria, Erythropoietic [C17.800.849.617.400.812]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Porphyrias [C18.452.648.708]
- Porphyrias, Hepatic [C18.452.648.708.400]
- Protoporphyria, Erythropoietic [C18.452.648.708.400.812]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Protoporphyria, Erythropoietic [C18.452.811.400.812]
- Skin Diseases, Metabolic [C18.452.880]
- Porphyrias [C18.452.880.617]
- Porphyrias, Hepatic [C18.452.880.617.400]
- Protoporphyria, Erythropoietic [C18.452.880.617.400.812]
Below are MeSH descriptors whose meaning is more specific than "Protoporphyria, Erythropoietic".
This graph shows the total number of publications written about "Protoporphyria, Erythropoietic" by people in Harvard Catalyst Profiles by year, and whether "Protoporphyria, 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 |
|---|
| 1999 | 0 | 1 | 1 |
| 2000 | 0 | 1 | 1 |
| 2005 | 4 | 0 | 4 |
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 1 | 2 |
| 2011 | 1 | 1 | 2 |
| 2012 | 2 | 0 | 2 |
| 2014 | 3 | 0 | 3 |
| 2015 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
Below are the most recent publications written about "Protoporphyria, Erythropoietic" by people in Profiles.
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Light-Related Cutaneous Symptoms of Erythropoietic Protoporphyria and Associations With Light Sensitivity Measurements. JAMA Dermatol. 2023 02 01; 159(2):204-208.
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. Haematologica. 2021 07 01; 106(7):2030-2033.
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Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 01; 23(1):140-148.
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Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. Am J Hematol. 2020 05; 95(5):492-496.
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Pitfalls and proposed solutions for patient communication about erythropoietic protoporphyria: A survey of parents and adult patients. J Am Acad Dermatol. 2019 11; 81(5):1204-1207.
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Recurrent Photodistributed Skin Eruptions in a Teenage Girl. JAMA Dermatol. 2016 08 01; 152(8):937-8.
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Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release. Biochemistry. 2015 Sep 15; 54(36):5617-31.
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Education and Imaging: hepatology: portal vein cavernoma imitating cholangiocarcinoma in a patient with erythropoietic protoporphyria. J Gastroenterol Hepatol. 2014 Oct; 29(10):1755.
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Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. Am J Hum Genet. 2014 Apr 03; 94(4):611-7.
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Treatment of erythropoietic protoporphyria with the oral sorbent colestipol: a proof-of-concept clinical trial. J Am Acad Dermatol. 2014 Feb; 70(2):391-2.