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Hepatoerythropoietic porphyria(HEP)

MedGen UID:
57940
Concept ID:
C0162569
Disease or Syndrome
Synonym: HEP
SNOMED CT: Homozygous porphyria cutanea tarda (111386004); Hepatoerythropoietic porphyria (111386004)
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).
 
Monarch Initiative: MONDO:0019799
OMIM®: 176100; 613521
Orphanet: ORPHA95159

Disease characteristics

Excerpted from the GeneReview: Hepatoerythropoietic Porphyria
Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Mild anemia/hemolysis are not uncommon. [from GeneReviews]
Authors:
Sean Rudnick  |  John Phillips  |  Herbert Bonkovsky, et. al.   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHepatoerythropoietic porphyria

Professional guidelines

PubMed

Tewari A, Marsden J, Naik H, Benton EC, Sarkany R
J Am Acad Dermatol 2012 Dec;67(6):1383-4. doi: 10.1016/j.jaad.2012.02.006. PMID: 23158617
Sassa S
Br J Haematol 2006 Nov;135(3):281-92. Epub 2006 Sep 4 doi: 10.1111/j.1365-2141.2006.06289.x. PMID: 16956347
Roelandts R
Dermatology 1995;190(4):330-1. doi: 10.1159/000246734. PMID: 7655119

Recent clinical studies

Etiology

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
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
Ferreira GC
Int J Biochem Cell Biol 1999 Oct;31(10):995-1000. doi: 10.1016/s1357-2725(99)00066-7. PMID: 10582332
Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, Enríquez de Salamanca R
Dermatology 1996;193(4):332-5. doi: 10.1159/000246284. PMID: 8993961
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Diagnosis

Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ
Mol Genet Metab 2019 Nov;128(3):363-366. Epub 2018 Nov 28 doi: 10.1016/j.ymgme.2018.11.013. PMID: 30514647Free PMC Article
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
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
Cox TM, Alexander GJ, Sarkany RP
Semin Liver Dis 1998;18(1):85-93. doi: 10.1055/s-2007-1007144. PMID: 9516682
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Therapy

Kaestner L, Juzeniene A, Moan J
Photochem Photobiol Sci 2004 Nov-Dec;3(11-12):981-9. Epub 2004 Oct 26 doi: 10.1039/b403127j. PMID: 15570383
Gross U, Frank M, Doss MO
Photodermatol Photoimmunol Photomed 1998 Apr;14(2):52-7. doi: 10.1111/j.1600-0781.1998.tb00011.x. PMID: 9638724
Broughton G 2nd
Am J Med Sci 1994 Jan;307(1):54-63. doi: 10.1097/00000441-199401000-00011. PMID: 8291509
Mathews-Roth MM
Ann N Y Acad Sci 1993 Dec 31;691:127-38. doi: 10.1111/j.1749-6632.1993.tb26164.x. PMID: 8129282
Bundino S, Topi GC, Zina AM, D'Allessandro Gandolfo L
Pediatr Dermatol 1987 Nov;4(3):229-33. doi: 10.1111/j.1525-1470.1987.tb00784.x. PMID: 3422855

Prognosis

To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C
Br J Dermatol 2011 Sep;165(3):499-505. Epub 2011 Aug 18 doi: 10.1111/j.1365-2133.2011.10453.x. PMID: 21668429Free PMC Article
Ishibashi A, Ogata R, Sakisaka S, Kumashiro R, Koga Y, Mitsuyama K, Kuromatsu R, Uchimura Y, Ijyuin H, Tanaka K, Iwao T, Ishii K, Sata M, Inoue Y, Kin Y, Oizumi K, Nishida H, Imaizumi T, Tanikawa K
J Gastroenterol 1999 Jun;34(3):405-9. doi: 10.1007/s005350050284. PMID: 10433022
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, Enríquez de Salamanca R
Dermatology 1996;193(4):332-5. doi: 10.1159/000246284. PMID: 8993961
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

Biolcati G, Dolazza C
Int J Dermatol 2006 Aug;45(8):976-8. doi: 10.1111/j.1365-4632.2006.02931.x. PMID: 16911388
Buzaleh AM, García-Bravo M, Navarro S, Morán-Jimenez MJ, Méndez M, Batlle A, Fontanellas A, de Salamanca RE
Int J Biochem Cell Biol 2004 Feb;36(2):216-22. doi: 10.1016/s1357-2725(03)00214-0. PMID: 14643887
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H
Am J Hum Genet 1996 Apr;58(4):712-21. PMID: 8644733Free PMC Article
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

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