HEP
MCID: HPT018
MIFTS: 53

Hepatoerythropoietic Porphyria (HEP) malady

Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases, Liver diseases categories
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Summaries for Hepatoerythropoietic Porphyria

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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 based summary: Hepatoerythropoietic Porphyria, also known as histiocytoid cardiomyopathy, is related to porphyria and porphyria cutanea tarda, and has symptoms including An important gene associated with Hepatoerythropoietic Porphyria is UROD (uroporphyrinogen decarboxylase), and among its related pathways are HIF-1 signaling pathway and HIF-1-alpha transcription factor network. The compounds Uroporphyrinogen III and uroporphyrinogen i have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related mouse phenotype liver/biliary system.

Wikipedia:65 Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both... more...

Descriptions from OMIM:46 212080,500000,176100

GeneReviews summary for hep

Aliases & Classifications for Hepatoerythropoietic Porphyria

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Sources:
8Disease Ontology, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 62UMLS, 48Orphanet, 46OMIM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hepatoerythropoietic Porphyria, Aliases & Descriptions:

Name: Hepatoerythropoietic Porphyria 8 65 19 42 20 10 62
Histiocytoid Cardiomyopathy 48 46 62
Foamy Myocardial Transformation of Infancy 48 62
Homozygous Porphyria Cutanea Tarda 65 62
Oncocytic Cardiomyopathy 48 62
 
Hep 65 42
Infantile Cardiomyopathy with Histiocytoid Change 48
Cardiomyopathy, Infantile Xanthomatous 62
Infantile Xanthomatous Cardiomyopathy 48
Porphyria, Hepatoerythropoietic 46


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:5230
MeSH34 D017121
NCIt39 C84754
MESH via Orphanet35 C535584
ICD10 via Orphanet26 I42.0
UMLS via Orphanet63 C1708371

Related Diseases for Hepatoerythropoietic Porphyria

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



Diseases related to hepatoerythropoietic porphyria

Symptoms for Hepatoerythropoietic Porphyria

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Symptoms by clinical synopsis from OMIM:

212080

Clinical features from OMIM:

212080,500000,176100

HPO human phenotypes related to Hepatoerythropoietic Porphyria:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 congestive heart failure HP:0001635
4 cardiomyopathy HP:0001638
5 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Hepatoerythropoietic Porphyria

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Drug clinical trials:

Search ClinicalTrials for Hepatoerythropoietic Porphyria

Search NIH Clinical Center for Hepatoerythropoietic Porphyria

Genetic Tests for Hepatoerythropoietic Porphyria

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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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MalaCards organs/tissues related to Hepatoerythropoietic Porphyria:

32
Skin, B cells

Animal Models for Hepatoerythropoietic Porphyria or affiliated genes

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MGI Mouse Phenotypes related to Hepatoerythropoietic Porphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1HMOX1, UROD, UROS, EPO

Publications for Hepatoerythropoietic Porphyria

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Articles related to Hepatoerythropoietic Porphyria:

(show all 37)
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
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? (6112327)
1981
37
Hepatoerythropoietic porphyria. (7369748)
1980

Variations for Hepatoerythropoietic Porphyria

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UniProtKB/Swiss-Prot genetic disease variations for Hepatoerythropoietic Porphyria:

64 (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

Clinvar genetic disease variations for Hepatoerythropoietic Porphyria:

6
id Gene Name Type Significance SNP ID Assembly Location
1URODNM_000374.4(UROD): c.842G> T (p.Gly281Val)single nucleotide variantPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475
2URODUROD, IVS6DS, G-C, +1deletionPathogenic
3URODNM_000374.4(UROD): c.942G> A (p.Glu314=)single nucleotide variantPathogenicrs121918062GRCh37Chr 1, 45480678: 45480678
4URODNM_000374.4(UROD): c.494T> G (p.Met165Arg)single nucleotide variantPathogenicrs121918063GRCh37Chr 1, 45479600: 45479600
5URODNM_000374.4(UROD): c.583C> T (p.Leu195Phe)single nucleotide variantPathogenicrs121918064GRCh37Chr 1, 45479689: 45479689
6URODNM_000374.4(UROD): c.912C> A (p.Asn304Lys)single nucleotide variantPathogenicrs121918065GRCh37Chr 1, 45480648: 45480648
7URODNM_000374.4(UROD): c.995G> A (p.Arg332His)single nucleotide variantPathogenicrs121918066GRCh37Chr 1, 45481061: 45481061
8MT-CYBm.15498G> Asingle nucleotide variantPathogenicrs207460003GRCh37Chr MT, 15498: 15498

Expression for genes affiliated with Hepatoerythropoietic Porphyria

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Expression patterns in normal tissues for genes affiliated with Hepatoerythropoietic Porphyria

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Pathways for genes affiliated with Hepatoerythropoietic Porphyria

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Pathways related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0EPO, HMOX1
29.0HMOX1, EPO
3
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
8.9HMOX1, UROD, UROS
4
Show member pathways
7.9MT-CYB, UROS, UROD, HMOX1, CTRB1

Compounds for genes affiliated with Hepatoerythropoietic Porphyria

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR, 50PharmGKB
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Compounds related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Uroporphyrinogen III249.9UROS, UROD
2uroporphyrinogen i44 2410.9UROS, UROD
3Coproporphyrinogen III249.9UROD, UROS
4uroporphyrin i449.9UROD, UROS
5hydroxymethylbilane44 2410.9UROD, UROS
6uroporphyrin449.9UROD, UROS
7uroporphyrinogen-iii449.9UROS, UROD
8formyl-coa44 2410.8UROS, UROD
9porphyrin449.8UROD, UROS
10porphobilinogen44 24 1111.8UROS, UROD
11iron dextran44 1110.6UROD, EPO
12fumarate44 1110.4MT-CYB, EPO
13carbon449.4MT-CYB, HMOX1
14haem449.4UROD, MT-CYB, HMOX1
15cobalt44 2410.3EPO, MT-CYB
16phenobarbital44 28 50 1112.3HMOX1, UROD
17zinc protoporphyrin449.3HMOX1, EPO
185-aminolevulinic acid44 2410.3UROD, HMOX1, UROS
19cobalt chloride449.3EPO, HMOX1
20deferoxamine44 1110.2EPO, HMOX1
216-hydroxydopamine449.1EPO, HMOX1
22aprotinin44 1110.1EPO, CTRB1
23neomycin449.1HMOX1, EPO
24protoporphyrin ix44 24 1111.0EPO, HMOX1, UROD
25fenton449.0EPO, MT-CYB, HMOX1
26mitomycin c448.9MT-CYB, EPO
27heme28 24 1110.8HMOX1, UROS, MT-CYB, UROD
28ascorbic acid44 249.8MT-CYB, EPO, HMOX1
29oxygen44 249.4UROD, EPO, MT-CYB, HMOX1
30iron44 249.0UROD, UROS, HMOX1, EPO, MT-CYB

GO Terms for genes affiliated with Hepatoerythropoietic Porphyria

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Cellular components related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5CTRB1, HMOX1, EPO

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX biosynthetic processGO:0067829.6UROD, UROS
2heme biosynthetic processGO:0067839.5UROS, UROD
3cellular response to arsenic-containing substanceGO:0712439.4HMOX1, UROS
4porphyrin-containing compound metabolic processGO:0067789.1HMOX1, UROD, UROS
5cellular response to hypoxiaGO:0714569.0HMOX1, EPO
6response to estrogenGO:0436278.7EPO, HMOX1
7small molecule metabolic processGO:0442818.3CTRB1, HMOX1, UROD, UROS

Products for genes affiliated with Hepatoerythropoietic Porphyria

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet