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Autosomal erythropoietic protoporphyria

MedGen UID:
966646
•Concept ID:
CN283243
•
Disease or Syndrome
Synonyms: autosomal erythropoietic protoporphyria; EPP
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019263
Orphanet: ORPHA79278

Definition

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal erythropoietic protoporphyria

Professional guidelines

PubMed

Role of genetic testing in the management of patients with inherited porphyria and their families.
Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133
Photo(chemo)therapy and general management of erythropoietic protoporphyria.
Roelandts R
Dermatology 1995;190(4):330-1. doi: 10.1159/000246734. PMID: 7655119

Recent clinical studies

Etiology

Liver transplantation in the management of porphyria.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM
Hepatology 2014 Sep;60(3):1082-9. Epub 2014 Jul 29 doi: 10.1002/hep.27086. PMID: 24700519Free PMC Article
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article
The molecular genetics of erythropoietic protoporphyria.
Elder GH, Gouya L, Whatley SD, Puy H, Badminton MN, Deybach JC
Cell Mol Biol (Noisy-le-grand) 2009 Jul 1;55(2):118-26. PMID: 19656460
Erythropoietic protoporphyria.
Todd DJ
Br J Dermatol 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. PMID: 7857832

Diagnosis

Liver transplantation in the management of porphyria.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM
Hepatology 2014 Sep;60(3):1082-9. Epub 2014 Jul 29 doi: 10.1002/hep.27086. PMID: 24700519Free PMC Article
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article
Erythropoietic protoporphyria.
Todd DJ
Br J Dermatol 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. PMID: 7857832
The cutaneous porphyrias.
Elder GH
Semin Dermatol 1990 Mar;9(1):63-9. PMID: 2203445

Therapy

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):332-341. Epub 2019 Jan 18 doi: 10.1016/j.ymgme.2019.01.007. PMID: 30737139Free PMC Article
Liver transplantation for porphyria: who, when, and how?
Seth AK, Badminton MN, Mirza D, Russell S, Elias E
Liver Transpl 2007 Sep;13(9):1219-27. doi: 10.1002/lt.21261. PMID: 17763398
Photo(chemo)therapy and general management of erythropoietic protoporphyria.
Roelandts R
Dermatology 1995;190(4):330-1. doi: 10.1159/000246734. PMID: 7655119
Erythropoietic protoporphyria.
Todd DJ
Br J Dermatol 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x. PMID: 7857832
The cutaneous porphyrias.
Elder GH
Semin Dermatol 1990 Mar;9(1):63-9. PMID: 2203445

Prognosis

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A
Eur J Dermatol 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. PMID: 33021473
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Erythropoietic protoporphyria.
Lecha M, Puy H, Deybach JC
Orphanet J Rare Dis 2009 Sep 10;4:19. doi: 10.1186/1750-1172-4-19. PMID: 19744342Free PMC Article
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD
Blood Adv 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. PMID: 34724702Free PMC Article
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Ventura P, Brancaleoni V, Di Pierro E, Graziadei G, Macrì A, Carmine Guida C, Nicolli A, Rossi MT, Granata F, Fiorentino V, Fustinoni S, Sala R, Pinton PC, Trevisan A, Marchini S, Cuoghi C, Marcacci M, Corradini E, Sorge F, Aurizi C, Savino MG, Cappellini MD, Pietrangelo A
Eur J Dermatol 2020 Oct 1;30(5):532-540. doi: 10.1684/ejd.2020.3880. PMID: 33021473
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M, Chen B, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):320-331. Epub 2018 Nov 30 doi: 10.1016/j.ymgme.2018.11.012. PMID: 30594473Free PMC Article
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ
JAMA Dermatol 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557. PMID: 28614581Free PMC Article
Role of genetic testing in the management of patients with inherited porphyria and their families.
Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133

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