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Erythropoietic porphyria

MedGen UID:
102408
•Concept ID:
C0162530
•
Disease or Syndrome
SNOMED CT: Erythropoietic porphyria (67312003)

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythropoietic porphyria
Follow this link to review classifications for Erythropoietic porphyria in Orphanet.

Professional guidelines

PubMed

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Mirmiran A, Poli A, Ged C, Schmitt C, Lefebvre T, Manceau H, Daher R, Moulouel B, Peoc'h K, Simonin S, Blouin JM, Deybach JC, Nicolas G, Puy H, Richard E, Gouya L
Haematologica 2021 Mar 1;106(3):913-917. doi: 10.3324/haematol.2019.228270. PMID: 31919078Free PMC Article
Phototherapy in the Evaluation and Management of Photodermatoses.
Jiang AJ, Lim HW
Dermatol Clin 2020 Jan;38(1):71-77. Epub 2019 Oct 18 doi: 10.1016/j.det.2019.08.007. PMID: 31753194
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ, Astrin KH
Br J Haematol 2002 Jun;117(4):779-95. doi: 10.1046/j.1365-2141.2002.03557.x. PMID: 12060112

Recent clinical studies

Etiology

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Oral aspects of porphyria.
Kooijman MM, Brand HS
Int Dent J 2005 Apr;55(2):61-6. doi: 10.1111/j.1875-595x.2005.tb00035.x. PMID: 15880959

Diagnosis

Update on the Porphyrias.
Dickey AK, Leaf RK, Balwani M
Annu Rev Med 2024 Jan 29;75:321-335. Epub 2023 Aug 4 doi: 10.1146/annurev-med-042921-123602. PMID: 37540847
Late-Onset Congenital Erythropoietic Porphyria.
Hsiao YW, Chiou TJ, Huang YC
JAMA Dermatol 2022 Feb 1;158(2):203. doi: 10.1001/jamadermatol.2021.5005. PMID: 34964809
Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS, Anderson KE
Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86. PMID: 26132003Free PMC Article
Photosensitivity.
Baker CS
Med J Aust 1996 Jul 15;165(2):96-101. doi: 10.5694/j.1326-5377.1996.tb138653.x. PMID: 8692072

Therapy

Photodermatoses: Kids are not just little people.
Naka F, Shwayder TA, Santoro FA
Clin Dermatol 2016 Nov-Dec;34(6):724-735. Epub 2016 Jul 12 doi: 10.1016/j.clindermatol.2016.07.007. PMID: 27968932
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059
Photosensitivity.
Baker CS
Med J Aust 1996 Jul 15;165(2):96-101. doi: 10.5694/j.1326-5377.1996.tb138653.x. PMID: 8692072
Congenital erythropoietic porphyria.
Nordmann Y, Deybach JC
Semin Liver Dis 1982 May;2(2):154-63. doi: 10.1055/s-2008-1040705. PMID: 6753165
ERYTHROPOIETIC PORPHYRIA.
CHATTERJEA JB
Blood 1964 Dec;24:806-7. PMID: 14235363

Prognosis

The heavy metal drummer (and Gunther disease patient).
Creamer D
Clin Exp Dermatol 2020 Oct;45(7):941-944. Epub 2020 Jul 22 doi: 10.1111/ced.14337. PMID: 32696578
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Congenital erythropoietic porphyria.
Nordmann Y, Deybach JC
Semin Liver Dis 1982 May;2(2):154-63. doi: 10.1055/s-2008-1040705. PMID: 6753165
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748
Erythropoietic porphyria.
Leary PM
S Afr Med J 1967 Jan 7;41(1):11-3. PMID: 4225007

Clinical prediction guides

Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria.
Fortian A, Castaño D, Gonzalez E, Laín A, Falcon-Perez JM, Millet O
Adv Protein Chem Struct Biol 2011;83:43-74. doi: 10.1016/B978-0-12-381262-9.00002-1. PMID: 21570665
Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
Ged C, Moreau-Gaudry F, Richard E, Robert-Richard E, de Verneuil H
Cell Mol Biol (Noisy-le-grand) 2009 Feb 16;55(1):53-60. PMID: 19268002
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

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