HEP
MCID: HPT018
MIFTS: 53

Hepatoerythropoietic Porphyria (HEP) malady

Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases, Liver diseases categories

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 autosomal recessive inheritance, microcephaly and congestive heart failure. 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 i and Uroporphyrinogen III have been mentioned in the context of this disorder. Affiliated tissues include skin and b cells, and related mouse phenotype liver/biliary system.

Wikipedia:64 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:
9Disease Ontology, 64Wikipedia, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 11DISEASES, 61UMLS, 48Orphanet, 46OMIM, 34MeSH, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Hepatoerythropoietic Porphyria, Aliases & Descriptions:

Name: Hepatoerythropoietic Porphyria 9 64 20 42 21 11 61
Histiocytoid Cardiomyopathy 48 46 61
Foamy Myocardial Transformation of Infancy 48 61
Homozygous Porphyria Cutanea Tarda 64 61
Oncocytic Cardiomyopathy 48 61
 
Hep 64 42
Infantile Cardiomyopathy with Histiocytoid Change 48
Cardiomyopathy, Infantile Xanthomatous 61
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 Ontology9 DOID:5230
MeSH34 D017121
NCIt39 C84754
MESH via Orphanet35 C535584
ICD10 via Orphanet27 I42.0
UMLS via Orphanet62 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:

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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 Porphyria21

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:

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

Clinvar genetic disease variations for Hepatoerythropoietic Porphyria:

7
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:
44Novoseek, 25HMDB, 12DrugBank, 29IUPHAR, 50PharmGKB
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Compounds related to Hepatoerythropoietic Porphyria according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i44 2510.9UROD, UROS
2Uroporphyrinogen III259.9UROD, UROS
3Coproporphyrinogen III259.9UROS, UROD
4uroporphyrin i449.9UROS, UROD
5hydroxymethylbilane44 2510.9UROD, UROS
6uroporphyrin449.9UROD, UROS
7uroporphyrinogen-iii449.9UROD, UROS
8formyl-coa44 2510.8UROD, UROS
9porphyrin449.8UROD, UROS
10porphobilinogen44 25 1211.8UROS, UROD
11iron dextran44 1210.6EPO, UROD
12fumarate44 1210.4MT-CYB, EPO
13carbon449.4HMOX1, MT-CYB
14haem449.4HMOX1, UROD, MT-CYB
15cobalt44 2510.3MT-CYB, EPO
16phenobarbital44 29 50 1212.3HMOX1, UROD
17zinc protoporphyrin449.3HMOX1, EPO
185-aminolevulinic acid44 2510.3UROS, UROD, HMOX1
19cobalt chloride449.3EPO, HMOX1
20deferoxamine44 1210.2HMOX1, EPO
216-hydroxydopamine449.1HMOX1, EPO
22aprotinin44 1210.1CTRB1, EPO
23neomycin449.1EPO, HMOX1
24protoporphyrin ix44 25 1211.0EPO, UROD, HMOX1
25fenton449.0HMOX1, MT-CYB, EPO
26mitomycin c448.9MT-CYB, EPO
27heme29 25 1210.8HMOX1, UROD, UROS, MT-CYB
28ascorbic acid44 259.8EPO, MT-CYB, HMOX1
29oxygen44 259.4HMOX1, UROD, MT-CYB, EPO
30iron44 259.0HMOX1, UROD, UROS, MT-CYB, EPO

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:0436278.7HMOX1, EPO
7small molecule metabolic processGO:0442818.3CTRB1, HMOX1, UROD, UROS

Products for genes affiliated with Hepatoerythropoietic Porphyria

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Sources for Hepatoerythropoietic Porphyria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet