EPP
MCID: ERY009
MIFTS: 60

Erythropoietic Protoporphyria (EPP) malady

Rare diseases category

Summaries for Erythropoietic Protoporphyria

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Erythropoietic protoporphyria is a type of porphyria. porphyrias are caused by an abnormality in the heme production process. heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. erythropoietic protoporphyria is caused by impaired activity of ferrocheletase, an important enzyme in heme production. this results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. last updated: 11/11/2008

MalaCards: Erythropoietic Protoporphyria, also known as ferrochelatase deficiency, is related to porphyria and porphyria cutanea tarda. An important gene associated with Erythropoietic Protoporphyria is FECH (ferrochelatase), and among its related pathways are Nuclear signaling by ERBB4 and SHC1 events in ERBB2 signaling. The compounds Protoporphyrinogen IX and ppix have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related mouse phenotypes are growth/size/body and integument.

Wikipedia:66 Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very... more...

Description from OMIM:48 177000

Aliases & Classifications for Erythropoietic Protoporphyria

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 41NCIt, 48OMIM, 59SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

erythropoietic protoporphyria 9 66 44 23 11 63
ferrochelatase deficiency 66 44 63
protoporphyria 9 66 44
epp 9 66 44
erythrohepatic protoporphyria 66 44
heme synthetase deficiency 66 44
protoporphyria erythropoietic 46


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Disease Ontology9 DOID:13270
MeSH36 D046351
SNOMED-CT59 51022005
NCIt41 C84698
OMIM48 177000

Related Diseases for Erythropoietic Protoporphyria

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18GeneCards, 19GeneDecks
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Diseases related to Erythropoietic Protoporphyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria31.0CPOX, FECH, ALAD, ALAS2, HMBS, TF
2porphyria cutanea tarda30.7PPOX, TF, CPOX, FECH, UROS, ALAD
3liver cirrhosis30.5HMBS, CYP2E1, TF
4microcytic anemia30.4TF, ALAS2
5hemochromatosis30.3IREB2, TF
6congenital porphyria30.3CPOX, FECH, UROS, ALAD, HMBS
7acute porphyria30.2FECH, ALAD, HMOX1, HMBS, CPOX, PPOX
8leukemia30.2HMBS, HMOX1, ALAS2, CYP2E1, SP1
9breast cancer29.8SP1, CPOX, BTC, EREG
10hepatitis10.9
11liver disease10.7
12erythropoietic protoporphyria, autosomal recessive10.6
13cholestasis10.5
14keratoderma10.5
15photosensitivity disease10.4
16polyneuropathy10.4
17lipoid proteinosis10.4
18lupus erythematosus10.4
19x-linked protoporphyria10.4
20myelodysplastic syndromes10.4
21protoporphyria, erythropoietic, x-linked10.4
22blindness10.4
23burns10.2
24acute pancreatitis10.2
25alport syndrome10.2
26alagille syndrome10.2
27cystinuria10.2
28choledocholithiasis10.2
29paralytic ileus10.2
30beta thalassemia10.2
31systemic lupus erythematosus10.2
32porokeratosis10.2
33sclerosing cholangitis10.2
34angioedema10.2
35aplastic anemia10.2
36cholangitis10.2
37contact dermatitis10.2
38dermatitis10.2
39histiocytosis10.2
40hyperthyroidism10.2
41pancreatitis10.2
42purpura10.2
43schizophrenia10.2
44thalassemia10.2
45urticaria10.2
46vasculitis10.2
47ventricular septal defect10.2
48pseudoainhum10.2
49acute hepatic porphyria10.2
50ileus10.2

Graphical network of the top 20 diseases related to Erythropoietic Protoporphyria:



Diseases related to erythropoietic protoporphyria

Symptoms for Erythropoietic Protoporphyria

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48OMIM
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Clinical features from OMIM:

177000

Drugs & Therapeutics for Erythropoietic Protoporphyria

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Erythropoietic Protoporphyria

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Genetic Tests for Erythropoietic Protoporphyria

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23GTR
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Genetic tests related to Erythropoietic Protoporphyria:

id Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria23

Anatomical Context for Erythropoietic Protoporphyria

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34MalaCards
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MalaCards organs/tissues related to Erythropoietic Protoporphyria:

34
Liver, Skin, Bone, Bone marrow, Spleen, Testes, Eye

Animal Models for Erythropoietic Protoporphyria or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Erythropoietic Protoporphyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7UROS, FECH, TF, SP1, EREG, HMOX1
2MP:00107717.7SP1, FECH, UROS, ALAS2, EREG, SLC25A37
3MP:00053707.1SP1, CYP2E1, FECH, IREB2, UROS, HMOX1
4MP:00053976.7SLC25A37, UROS, IREB2, FECH, TF, SP1
5MP:00107686.0IREB2, ALAS2, SLC25A37, HMBS, HMOX1, BTC
6MP:00053765.5SP1, HMBS, HMOX1, EREG, BTC, ALAS2

Publications for Erythropoietic Protoporphyria

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53PubMed
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Articles related to Erythropoietic Protoporphyria:

(show top 50)    (show all 473)
idTitleAuthorsYear
1
Oxidative stress, Nrf2 and keratin up-regulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria. (22334478)
2012
2
An explorative study of non-invasive ultra-weak photon emission and the anti-oxidative influence of oral zinc sulphate in light-sensitive patients with erythropoietic protoporphyria. (22092997)
2012
3
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria. (21145811)
2011
4
Inheritance in erythropoietic protoporphyria]. (20850938)
2010
5
The role for BMT in erythropoietic protoporphyria. (19525986)
2010
6
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (18787536)
2009
7
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. (19055472)
2009
8
N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria. (19243001)
2009
9
Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria. (19268001)
2009
10
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family. (18758989)
2008
11
Liver transplantation for erythropoietic protoporphyria with hepatic failure: a case report. (18589193)
2008
12
Symptomatic response of erythropoietic protoporphyria to iron supplementation. (17504727)
2007
13
Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. (16794582)
2006
14
Transient erythropoietic protoporphyria associated with chronic hepatitis and cirrhosis in a cohort of German shepherd dogs. (16443837)
2006
15
The difficult clinical diagnosis of erythropoietic protoporphyria. (17298219)
2006
16
Erythropoietic protoporphyria advances today, with a special tribute to the late Professor Ian Magnus. (16911273)
2006
17
Liver transplantation for erythropoietic protoporphyria liver disease. (16315313)
2005
18
Dietary fish oils as a therapeutic option in erythropoietic protoporphyria. (12139682)
2002
19
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria. (10985389)
2000
20
Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene. (9740256)
1998
21
Erythropoietic protoporphyria. (8736351)
1996
22
Erythropoietic protoporphyria]. (7616660)
1995
23
The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria. (7592570)
1995
24
Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria. (8280787)
1994
25
Picture of the month. Erythropoietic protoporphyria. (8418605)
1993
26
Contact dermatitis from UV-A and UV-B filters in a patient with erythropoietic protoporphyria. (8365136)
1993
27
Predictable and unpredictable hazards of erythropoietic protoporphyria. (1934569)
1991
28
Erythropoietic protoporphyria and iron therapy. (2322503)
1990
29
Erythropoietic protoporphyria. The problem of a suitable screening test. (1977265)
1990
30
Histamine release from rodent and human mast cells induced by protoporphyrin and ultraviolet light: studies of the mechanism of mast-cell activation in erythropoietic protoporphyria. (2337518)
1990
31
A case of erythropoietic protoporphyria. (3241583)
1988
32
Beta-carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases. (3092881)
1986
33
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases. (3924091)
1985
34
Histiocytosis X and erythropoietic protoporphyria. (6607997)
1984
35
Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria. (7107898)
1982
36
Accumulation of protoporphyrin IX from delta-aminolevulinic acid in bovine skin fibroblasts with hereditary erythropoietic protoporphyria. A gene-dosage effect. (6788885)
1981
37
Generation of chemotactic activity in serum from patients with erythropoietic protoporphyria and porphyria cutanea tarda. (7442746)
1981
38
Erythropoietic protoporphyria. A case report and review of the literature. (287476)
1979
39
Porphyrin production and liver involvement in a patient with erythropoietic protoporphyria. (705235)
1978
40
Photoprotection in erythropoietic protoporphyria: mechanism of photoprotection by beta carotene. (839088)
1977
41
Beta carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases. (900968)
1977
42
Hepatic disease in erythropoietic protoporphyria. (1138541)
1975
43
Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. (4785438)
1973
44
Photoreactions associated with in vitro hemolysis in erythropoietic protoporphyria. (5546955)
1971
45
Epidermal changes in erythropoietic protoporphyria after irradiation with glass-filtered mercury light. (5696521)
1968
46
Erythropoietic protoporphyria in two sisters. (6064939)
1967
47
Erythropoietic protoporphyria (antea lipoid proteinosis) in sisters. A therapeutic trial with adenosine monophosphate. (5923431)
1966
48
Hepatobiliary changes in erythropoietic protoporphyria. (5844410)
1965
49
Erythropoietic protoporphyria. (5835345)
1965
50
ERYTHROPOIETIC PROTOPORPHYRIA AND PHOTOHEMOLYSIS. (14150000)
1964

Variations for Erythropoietic Protoporphyria

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Erythropoietic Protoporphyria:

1
id Gene Name Type Significance SNP ID Assembly Location
1FECHNM_001012515.2(FECH): c.571G> A (p.Ala191Thr)single nucleotide variantPathogenicrs397514476GRCh37Chr 18, 55233724: 55233724
2FECHNM_001012515.2(FECH): c.163G> T (p.Gly55Cys)single nucleotide variantPathogenicrs3848519GRCh37Chr 18, 55247336: 55247336
3FECHNM_001012515.2(FECH): c.819G> A (p.Met273Ile)single nucleotide variantPathogenicrs118204037GRCh37Chr 18, 55226380: 55226380
4FECHNM_001012515.2(FECH): c.1268T> C (p.Phe423Ser)single nucleotide variantPathogenicrs118204039GRCh37Chr 18, 55217966: 55217966
5FECHNM_001012515.2(FECH): c.1103T> G (p.Val368Gly)single nucleotide variantPathogenicrs118204040GRCh37Chr 18, 55218599: 55218599
6FECHNM_001012515.2(FECH): c.333-48T> Csingle nucleotide variantPathogenicrs2272783GRCh37Chr 18, 55238820: 55238820

Expression for genes affiliated with Erythropoietic Protoporphyria

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Erythropoietic Protoporphyria

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Pathways for genes affiliated with Erythropoietic Protoporphyria

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG, 52PharmGKB
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Compounds for genes affiliated with Erythropoietic Protoporphyria

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25HMDB, 46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1Protoporphyrinogen IX2510.3PPOX, CPOX
2ppix4610.2PPOX, FECH, HMBS
3Coproporphyrinogen III2510.1CPOX, UROS
4heme arginate4610.1HMBS, HMOX1
5mesoporphyrin4610.1HMOX1, FECH
6pyrrole4610.0CPOX, FECH
7uroporphyrin i4610.0UROS, ALAD, HMBS
8isopropanol469.9CYP2E1, HMOX1
9hydroxymethylbilane46 2510.8FECH, HMBS, UROS, PPOX
10mspi469.8CYP2E1, ALAD, HMBS
11ethylenediaminetetraacetic acid469.8ALAD, FECH
12lead469.8HMBS, ALAD, FECH, CPOX
13isosorbide dinitrate46 52 1211.8CYP2E1, HMOX1
14uroporphyrin469.7CPOX, UROS, ALAD, HMBS
15protoporphyrinogen469.6PPOX, FECH, ALAD, HMBS, CPOX
16iron-sulfur469.6FECH, ALAS2, IREB2
17copper46 2510.6ALAD, TF, FECH, CPOX
18uroporphyrinogen-iii469.5PPOX, UROS, HMBS, FECH, CPOX
19zinc protoporphyrin469.5TF, HMOX1, ALAD, FECH
20fe3+469.4IREB2, TF, FECH
21ferric ammonium citrate469.4IREB2, TF
22phenobarbital46 30 52 1212.4HMBS, HMOX1, CYP2E1, TF
23succinylacetone469.3TF, ALAD, IREB2
24porphyrin469.2ALAD, HMBS, UROS, FECH, PPOX, CPOX
25porphobilinogen46 25 1211.2CPOX, FECH, UROS, ALAD, HMBS, PPOX
26haem469.2FECH, HMBS, CPOX, PPOX, ALAS2, HMOX1
27dimethyl sulfate469.2SP1, HMOX1
28ascorbic acid46 2510.2TF, CYP2E1, ALAD, HMOX1
29resveratrol46 62 25 1212.1SP1, CYP2E1, HMOX1
30prostacyclin469.1TF, SP1, CPOX, HMOX1
31formyl-coa46 2510.0PPOX, CPOX, FECH, UROS, ALAD, ALAS2
32deferoxamine46 1210.0TF, FECH, HMOX1, IREB2
33lactate468.9TF, CYP2E1, HMOX1, CPOX, ALAD
34Water258.9PPOX, CYP2E1, CPOX, HMOX1, UROS, HMBS
35arginine468.8PPOX, HMBS, HMOX1, ALAS2, CPOX, SP1
36cycloheximide468.8ALAS2, CPOX, SP1, BTC, HMOX1, HMBS
37ethanol46 52 25 1211.8CPOX, HMBS, ALAD, IREB2, CYP2E1
38sodium nitroprusside468.8HMOX1, TF, IREB2
39alanine468.7SP1, TF, FECH, ALAS2, HMOX1, CPOX
40zinc46 259.6SP1, ALAD, ALAS2, IREB2, FECH
41actinomycin d468.6IREB2, SP1, CPOX, HMOX1
42n acetylcysteine468.5HMOX1, TF, IREB2, SP1
43protoporphyrin ix46 25 1210.5PPOX, TF, CPOX, FECH, ALAD, ALAS2
44nitric oxide46 25 1210.5IREB2, ALAD, CPOX, FECH, HMBS, HMOX1
45citrate468.4CPOX, IREB2, SP1, HMOX1, TF
46h2o2468.3SP1, CYP2E1, CPOX, IREB2, HMOX1
47oxygen46 259.2HMOX1, ALAS2, FECH, CPOX, CYP2E1, IREB2
485-aminolevulinic acid46 258.7HMOX1, HMBS, PPOX, CPOX, FECH, IREB2
49heme30 25 129.1SLC25A37, HMBS, HMOX1, ALAS2, ALAD, UROS
50iron46 257.7SLC25A37, PPOX, TF, HMBS, HMOX1, ALAS2

GO Terms for genes affiliated with Erythropoietic Protoporphyria

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17Gene Ontology
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Cellular components related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.8SLC25A37, ALAS2, FECH, CPOX
2mitochondrionGO:0057398.4ALAS2, UROS, IREB2, CPOX, CYP2E1

Biological processes related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:01708510.1CPOX, FECH
2response to methylmercuryGO:05159710.1FECH, CPOX
3erythrocyte differentiationGO:03021810.0ALAS2, FECH
4response to arsenic-containing substanceGO:04668510.0CPOX, FECH
5response to lead ionGO:0102889.9FECH, CPOX
6cellular response to arsenic-containing substanceGO:0712439.7HMOX1, UROS
7iron ion homeostasisGO:0550729.4SLC25A37, HMOX1, FECH
8positive regulation of mitosisGO:0458409.4EREG, BTC
9erythrocyte homeostasisGO:0341019.3HMOX1, IREB2
10heme biosynthetic processGO:0067838.8HMBS, ALAS2, ALAD, UROS, FECH, CPOX
11cellular iron ion homeostasisGO:0068798.8TF, IREB2, ALAS2, HMOX1
12porphyrin-containing compound metabolic processGO:0067788.4HMBS, HMOX1, ALAS2, ALAD, UROS, FECH
13protoporphyrinogen IX biosynthetic processGO:0067828.2CPOX, PPOX, IREB2, UROS, ALAD, HMBS
14small molecule metabolic processGO:0442816.6FECH, CPOX, CYP2E1, SP1, PPOX, UROS

Molecular functions related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermal growth factor receptor bindingGO:0051549.7EREG, BTC
2iron-responsive element bindingGO:0303509.3IREB2, FECH
3heme bindingGO:0200379.1HMOX1, FECH, CYP2E1

Products for genes affiliated with Erythropoietic Protoporphyria

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Sources for Erythropoietic Protoporphyria

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
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