HEP
MCID: HPT018
MIFTS: 45

Hepatoerythropoietic Porphyria (HEP) malady

Cardiovascular, Liver categories

Summaries for Hepatoerythropoietic Porphyria

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Hepatoerythropoietic porphyria (hep) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. it is the autosomal recessive form of familial porphyria cutanea tarda (f-pct). the manifestations of hep resemble congenital erythropoietic porphyria (cep), with symptoms of skin blistering that usually begin in infancy. treatment may include scheduled phlebotomy and low dose hydroxychloroquine. last updated: 10/26/2010

MalaCards: Hepatoerythropoietic Porphyria, also known as homozygous porphyria cutanea tarda, is related to porphyria cutanea tarda and cutaneous porphyria. An important gene associated with Hepatoerythropoietic Porphyria is UROD (uroporphyrinogen decarboxylase), and among its related pathways are HIF-1-alpha transcription factor network and Heme Biosynthesis. The compounds uroporphyrinogen i and uroporphyrin i have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Wikipedia:64 Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both... more...

Description from OMIM:47 212080,500000,176100

GeneReviews summary for hep

Aliases & Classifications for Hepatoerythropoietic Porphyria

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Liver


Characteristics (Orphanet epidemiological data):

49
histiocytoid cardiomyopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

hepatoerythropoietic porphyria 8 64 19 43 20 10 61
homozygous porphyria cutanea tarda 64 61
histiocytoid cardiomyopathy 49 47
hep 64 43
infantile cardiomyopathy with histiocytoid change 49
foamy myocardial transformation of infancy 49
infantile xanthomatous cardiomyopathy 49
porphyria, hepatoerythropoietic 47
oncocytic cardiomyopathy 49
factor ix deficiency 19
christmas disease 19


External Ids:

Disease Ontology8 DOID:5230
NCIt40 C84754
MeSH35 D017121
MESH via Orphanet36 C535584
ICD10 via Orphanet26 I42.0
UMLS via Orphanet62 C1708371

Related Diseases for Hepatoerythropoietic Porphyria

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hepatoerythropoietic Porphyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda31.1UROD, UROS
2cutaneous porphyria30.3UROS, UROD
3hereditary coproporphyria30.1UROD, UROS
4infantile histiocytoid cardiomyopathy10.7
5hemophilia10.7
6hemophilia b10.4
7factor v deficiency10.4
8mitochondrial cardiomyopathy10.3
9b cell deficiency10.2
10t cell deficiency10.2
11viral hepatitis10.2
12short stature10.2
13wolff-parkinson-white syndrome10.1
14hypotonia10.1
15hepatitis a10.1
16thrombophilia10.1
17factor 2 deficiency10.1
18scot deficiency10.1
19moderately severe hemophilia b10.1
20severe hemophilia b10.1
21prothrombin deficiency10.1
22hepatic veno-occlusive disease with immunodeficiency10.1
23hereditary ataxia10.1
24tricuspid atresia10.1
25thrombasthenia10.1
26blindness10.1
27mild hemophilia b10.1
28porphyria10.0UROD
29siderosis10.0UROD
30erythropoietic protoporphyria10.0UROS
31malaria10.0MT-CYB
32congenital porphyria10.0UROS, UROD
33variegate porphyria10.0UROD, UROS
34acute intermittent porphyria10.0UROS, UROD
35hypertrichosis10.0UROS, UROD
36chronic granulomatous disease10.0MT-CYB
37acute porphyria10.0UROD, HMOX1
38diabetes mellitus10.0HMOX1
39iron metabolism disease10.0EPO, MT-CYB
40hepatitis c10.0
41vaccinia10.0
42hepatitis e10.0
43glanders10.0
44melioidosis10.0
45hepatitis d10.0
46hyperinsulinism10.0
47thrombocytopenia10.0
48heparin-induced thrombocytopenia10.0
49hepatitis c virus10.0
50insulin resistance10.0

Graphical network of the top 20 diseases related to Hepatoerythropoietic Porphyria:



Diseases related to hepatoerythropoietic porphyria

Clinical Features for Hepatoerythropoietic Porphyria

Sources:
47OMIM
See all sources

Clinical features from OMIM:

212080,500000,176100

Clinical synopsis from OMIM:

212080

Drugs & Therapeutics for Hepatoerythropoietic Porphyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hepatoerythropoietic Porphyria

Drug clinical trials:

Search ClinicalTrials for Hepatoerythropoietic Porphyria

Search NIH Clinical Center for Hepatoerythropoietic Porphyria

Search CenterWatch for Hepatoerythropoietic Porphyria

Genetic Tests for Hepatoerythropoietic Porphyria

Sources:
20GeneTests
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Genetic tests related to Hepatoerythropoietic Porphyria:

id Genetic test Affiliating Genes
1 Hepatoerythropoietic Porphyria20

Anatomical Context for Hepatoerythropoietic Porphyria

Sources:
33MalaCards
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MalaCards organs/tissues related to Hepatoerythropoietic Porphyria:

33
Skin, B cells

Animal Models for Hepatoerythropoietic Porphyria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hepatoerythropoietic Porphyria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1UROS, UROD, EPO, HMOX1, PTF1A
2MP:00053977.6UROS, CHRD, EPO, HMOX1, PTF1A
3MP:00107687.6HMOX1, EPO, CHRD, UROD, UROS, PTF1A
4MP:00053767.5HMOX1, EPO, CHRD, UROD, UROS, PTF1A

Publications for Hepatoerythropoietic Porphyria

Sources:
51PubMed
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Articles related to Hepatoerythropoietic Porphyria:

(show all 38)
idTitleAuthorsYear
1
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. (21668429)
2011
2
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. (21079081)
2010
3
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. (20479301)
2010
4
The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and molecular studies. (19268003)
2009
5
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). (17240319)
2007
6
1599: first iconographic description of hepatoerythropoietic porphyria. (16911388)
2006
7
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (15491440)
2004
8
Volatile anaesthetics induce biochemical alterations in the heme pathway in a B-lymphocyte cell line established from hepatoerythropoietic porphyria patients (LBHEP) and in mice inoculated with LBHEP cells. (14643887)
2004
9
Cytoplasmic birefringent needle-like inclusions in hepatocytes in a patient with hepatoerythropoietic porphyria. (15186283)
2004
10
Successful and safe treatment of hypertrichosis by high-intensity pulses of noncoherent light in a patient with hepatoerythropoietic porphyria. (15258814)
2004
11
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. (12071824)
2002
12
Epoetin for severe anemia in hepatoerythropoietic porphyria. (10787339)
2000
13
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. (10980536)
2000
14
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. (10397714)
1999
15
A zebrafish model for hepatoerythropoietic porphyria. (9806541)
1998
16
Hepatoerythropoietic porphyria: neuroimaging findings. (9296199)
1997
17
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. (8644733)
1996
18
Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. (8993961)
1996
19
A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. (7706766)
1995
20
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. (8176248)
1994
21
Neurologic disease in a child with hepatoerythropoietic porphyria. (7971555)
1994
22
Hepatoerythropoietic Porphyria (24175354)
1993
23
Hepatoerythropoietic porphyria precipitated by viral hepatitis. (7902313)
1993
24
Hepatoerythropoietic porphyria in a woman with short stature and deformed hands. (1442894)
1992
25
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. (1634232)
1992
26
Identification of a new mutation responsible for hepatoerythropoietic porphyria. (1905636)
1991
27
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity. (2322500)
1990
28
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda. (2892774)
1988
29
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. (3821794)
1987
30
Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. (3571497)
1987
31
Hepatoerythropoietic porphyria. (3422855)
1987
32
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria. (3753711)
1986
33
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. (6375356)
1984
34
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family. (6722030)
1984
35
Hepatoerythropoietic porphyria: a variant of childhood-onset porphyria cutanea tarda. Porphyrin profiles and enzymatic studies of two cases in a family. (6512055)
1984
36
Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria? (7114869)
1982
37
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? (6112327)
1981
38
Hepatoerythropoietic porphyria. (7369748)
1980

Genetic Variations for Hepatoerythropoietic Porphyria

Expression for genes affiliated with Hepatoerythropoietic Porphyria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatoerythropoietic Porphyria

Search GEO for disease gene expression data for Hepatoerythropoietic Porphyria.

Pathways for genes affiliated with Hepatoerythropoietic Porphyria

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Pathways related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3HMOX1, EPO
2
Hide members
9.1HMOX1, UROD, UROS
3
Hide members
8.5MT-CYB, CTRB1, UROD, UROS

Compounds for genes affiliated with Hepatoerythropoietic Porphyria

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i45 2411.0UROS, UROD
2uroporphyrin i4510.0UROS, UROD
3hydroxymethylbilane45 2411.0UROD, UROS
4uroporphyrin4510.0UROD, UROS
5uroporphyrinogen-iii4510.0UROD, UROS
6formyl-coa45 2410.9UROS, UROD
7porphyrin459.9UROD, UROS
8iron dextran45 1110.9UROD, EPO
9porphobilinogen45 11 2411.9UROD, UROS
10fumarate45 1110.7MT-CYB, EPO
11zinc protoporphyrin459.6EPO, HMOX1
12cobalt chloride459.5EPO, HMOX1
13cobalt45 2410.5MT-CYB, EPO
14haem459.5HMOX1, MT-CYB, UROD
15deferoxamine45 1110.4EPO, HMOX1
165-aminolevulinic acid45 2410.4UROD, UROS, HMOX1
17protoporphyrin ix45 11 2411.3HMOX1, UROD, EPO
18neomycin459.3EPO, HMOX1
19fenton459.3MT-CYB, EPO, HMOX1
20ascorbic acid45 2410.1HMOX1, EPO, MT-CYB
216-hydroxydopamine459.0HMOX1, EPO
22heme29 11 2411.0UROS, UROD, MT-CYB, HMOX1
23oxygen45 249.6HMOX1, MT-CYB, EPO, UROD
24iron45 249.5EPO, UROS, UROD, MT-CYB, HMOX1

GO Terms for genes affiliated with Hepatoerythropoietic Porphyria

Sources:
16Gene Ontology
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Cellular components related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.0HMOX1, EPO, CHRD, CTRB1

Biological processes related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX biosynthetic processGO:0067829.7UROD, UROS
2heme biosynthetic processGO:0067839.6UROS, UROD
3cellular response to hypoxiaGO:0714569.3HMOX1, EPO
4porphyrin-containing compound metabolic processGO:0067789.1HMOX1, UROD, UROS
5response to estrogen stimulusGO:0436279.0HMOX1, EPO

Products for genes affiliated with Hepatoerythropoietic Porphyria

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  • Proteins
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Sources for Hepatoerythropoietic Porphyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet