U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

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).
Autosomal recessive inheritance (Orphanet)
 
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
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

Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria.
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
Modern diagnosis and management of the porphyrias.
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
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

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
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
Ferrochelatase.
Ferreira GC
Int J Biochem Cell Biol 1999 Oct;31(10):995-1000. doi: 10.1016/s1357-2725(99)00066-7. PMID: 10582332
Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda.
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
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Diagnosis

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
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
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
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
Protoporphyria.
Cox TM, Alexander GJ, Sarkany RP
Semin Liver Dis 1998;18(1):85-93. doi: 10.1055/s-2007-1007144. PMID: 9516682
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Therapy

Erythrocytes-the 'house elves' of photodynamic 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
Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy.
Warren LJ, George S
Australas J Dermatol 1998 Aug;39(3):179-82. doi: 10.1111/j.1440-0960.1998.tb01278.x. PMID: 9737047
Chenodeoxycholate: the bile acid. The drug. a review.
Broughton G 2nd
Am J Med Sci 1994 Jan;307(1):54-63. doi: 10.1097/00000441-199401000-00011. PMID: 8291509
Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases.
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
Hepatoerythropoietic porphyria.
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

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
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
Erythropoietic protoporphyria with fatal liver failure.
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
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda.
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
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
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
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV
Arch Dermatol 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89. PMID: 20479301Free PMC Article
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
Ged C, Ozalla D, Herrero C, Lecha M, Mendez M, de Verneuil H, Mascaro JM
Arch Dermatol 2002 Jul;138(7):957-60. doi: 10.1001/archderm.138.7.957. PMID: 12071824
Erythropoietic protoporphyria.
Cox TM
J Inherit Metab Dis 1997 Jun;20(2):258-69. doi: 10.1023/a:1005317124985. PMID: 9211198
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

Supplemental Content

Filter your results:

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...