HEP
MCID: HPT018
MIFTS: 56

Hepatoerythropoietic Porphyria (HEP) malady

Cardiovascular diseases, Liver diseases categories

Summaries for Hepatoerythropoietic Porphyria

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 and porphyria cutanea tarda. 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:63 Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both... more...

Description from OMIM:46 212080,500000,176100

GeneReviews summary for hep

Aliases & Classifications for Hepatoerythropoietic Porphyria

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
histiocytoid cardiomyopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

hepatoerythropoietic porphyria 8 63 19 42 20 10 60
homozygous porphyria cutanea tarda 63 60
histiocytoid cardiomyopathy 48 46
hep 63 42
infantile cardiomyopathy with histiocytoid change 48
foamy myocardial transformation of infancy 48
infantile xanthomatous cardiomyopathy 48
porphyria, hepatoerythropoietic 46
oncocytic cardiomyopathy 48


External Ids:

Disease Ontology8 DOID:5230
NCIt39 C84754
MeSH34 D017121
MESH via Orphanet35 C535584
ICD10 via Orphanet26 I42.0
UMLS via Orphanet61 C1708371

Related Diseases for Hepatoerythropoietic Porphyria

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hepatoerythropoietic Porphyria:



Diseases related to hepatoerythropoietic porphyria

Clinical Features for Hepatoerythropoietic Porphyria

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46OMIM
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Clinical features from OMIM:

212080,500000,176100

Clinical synopsis from OMIM:

212080

Drugs & Therapeutics for Hepatoerythropoietic Porphyria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hepatoerythropoietic Porphyria

Genetic Tests for Hepatoerythropoietic Porphyria

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20GeneTests
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Genetic tests related to Hepatoerythropoietic Porphyria:

id Genetic test Affiliating Genes
1 Hepatoerythropoietic Porphyria20

Anatomical Context for Hepatoerythropoietic Porphyria

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32MalaCards
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MalaCards organs/tissues related to Hepatoerythropoietic Porphyria:

32
Skin, B cells

Animal Models for Hepatoerythropoietic Porphyria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hepatoerythropoietic Porphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1PTF1A, HMOX1, EPO, UROD, UROS
2MP:00053977.6UROS, CHRD, EPO, HMOX1, PTF1A
3MP:00107687.6PTF1A, HMOX1, EPO, CHRD, UROD, UROS
4MP:00053767.5UROS, UROD, CHRD, EPO, HMOX1, PTF1A

Publications for Hepatoerythropoietic Porphyria

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hepatoerythropoietic Porphyria:

62 (show all 38)
id Symbol AA change Variation ID SNP ID
1URODp.Glu167LysVAR_007714
2URODp.Glu167LysVAR_007714
3URODp.Gly281GluVAR_007715
4URODp.Gly281ValVAR_007716
5URODp.Arg292GlyVAR_007717
6URODp.Ala80GlyVAR_007910
7URODp.Met165ArgVAR_007911
8URODp.Leu195PheVAR_007912
9URODp.Leu253GlnVAR_007913rs36033115
10URODp.Asn304LysVAR_007914
11URODp.Gly318ArgVAR_007915rs116233118
12URODp.Arg332HisVAR_007916
13URODp.Ile334ThrVAR_007917
14URODp.Pro62LeuVAR_009103
15URODp.Val134GlnVAR_009104
16URODp.Val134GlnVAR_009104
17URODp.His220ProVAR_009105
18URODp.Phe229LeuVAR_009106
19URODp.Tyr311CysVAR_009107
20URODp.Met324ThrVAR_009108
21URODp.Arg142GlnVAR_010985
22URODp.Leu161GlnVAR_010986
23URODp.Ser219PheVAR_010987
24URODp.Pro235SerVAR_010988
25URODp.Gly25GluVAR_022567
26URODp.Phe46LeuVAR_022568
27URODp.Ala80SerVAR_022569
28URODp.Arg144ProVAR_022570
29URODp.Gly156AspVAR_022571
30URODp.Arg193ProVAR_022572
31URODp.Leu216GlnVAR_022573
32URODp.Glu218LysVAR_022574
33URODp.Phe232LeuVAR_022575
34URODp.Ile260ThrVAR_022576
35URODp.Leu282ArgVAR_022577
36URODp.Gly303SerVAR_022578
37URODp.Gly168ArgVAR_065558
38URODp.Gly170AspVAR_065559

Expression for genes affiliated with Hepatoerythropoietic Porphyria

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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

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37NCBI BioSystems Database, 53Reactome, 29KEGG
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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
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8.5MT-CYB, CTRB1, UROD, UROS

Compounds for genes affiliated with Hepatoerythropoietic Porphyria

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i44 2411.0UROS, UROD
2uroporphyrin i4410.0UROD, UROS
3hydroxymethylbilane44 2411.0UROD, UROS
4uroporphyrin4410.0UROS, UROD
5uroporphyrinogen-iii4410.0UROS, UROD
6formyl-coa44 2410.9UROD, UROS
7porphyrin449.9UROD, UROS
8iron dextran44 1110.9EPO, UROD
9porphobilinogen44 11 2411.9UROD, UROS
10fumarate44 1110.7MT-CYB, EPO
11zinc protoporphyrin449.6EPO, HMOX1
12cobalt chloride449.5HMOX1, EPO
13cobalt44 2410.5EPO, MT-CYB
14haem449.5HMOX1, MT-CYB, UROD
15deferoxamine44 1110.4HMOX1, EPO
165-aminolevulinic acid44 2410.4UROS, UROD, HMOX1
17protoporphyrin ix44 11 2411.3HMOX1, EPO, UROD
18neomycin449.3HMOX1, EPO
19fenton449.3HMOX1, EPO, MT-CYB
20ascorbic acid44 2410.1HMOX1, EPO, MT-CYB
216-hydroxydopamine449.0HMOX1, EPO
22heme28 11 2411.0HMOX1, MT-CYB, UROD, UROS
23oxygen44 249.6UROD, MT-CYB, EPO, HMOX1
24iron44 249.5UROS, UROD, MT-CYB, EPO, HMOX1

GO Terms for genes affiliated with Hepatoerythropoietic Porphyria

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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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  • Antibodies
  • Proteins
  • Lysates
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Sources for Hepatoerythropoietic Porphyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet