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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).
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

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Balogun O, Nejak-Bowen K
Semin Liver Dis 2024 May;44(2):209-225. Epub 2024 May 17 doi: 10.1055/s-0044-1787076. PMID: 38772406Free 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
Ferrochelatase.
Ferreira GC
Int J Biochem Cell Biol 1999 Oct;31(10):995-1000. doi: 10.1016/s1357-2725(99)00066-7. PMID: 10582332
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
Protoporphyria.
Cox TM, Alexander GJ, Sarkany RP
Semin Liver Dis 1998;18(1):85-93. doi: 10.1055/s-2007-1007144. PMID: 9516682
The porphyrias.
Lim HW, Murphy GM
Clin Dermatol 1996 Jul-Aug;14(4):375-87. doi: 10.1016/0738-081x(96)00067-3. PMID: 8862915
Porphyria in childhood.
Jensen JD, Resnick SD
Semin Dermatol 1995 Mar;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9. PMID: 7742238

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
Hepatic complications of erythropoietic protoporphyria.
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
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
Neuropathy in erythropoietic protoporphyrias.
Muley SA, Midani HA, Rank JM, Carithers R, Parry GJ
Neurology 1998 Jul;51(1):262-5. doi: 10.1212/wnl.51.1.262. PMID: 9674816
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
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
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
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
Porphyria: genetic and acquired.
Cripps DJ
IARC Sci Publ 1986;(77):549-66. PMID: 3298037

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