EPP
MCID: ERY009
MIFTS: 62

Erythropoietic Protoporphyria (EPP) malady

Rare diseases, Metabolic diseases categories
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Summaries for Erythropoietic Protoporphyria

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NIH Rare Diseases:42 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 based summary: Erythropoietic Protoporphyria, also known as heme synthetase deficiency, is related to microcytic anemia and porphyria. 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:65 Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very... more...

Description from OMIM:46 177000

Aliases & Classifications for Erythropoietic Protoporphyria

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Erythropoietic Protoporphyria, Aliases & Descriptions:

Name: Erythropoietic Protoporphyria 8 65 42 22 10 62
Heme Synthetase Deficiency 65 42 62
Ferrochelatase Deficiency 65 42 62
Protoporphyria 8 65 42
 
Epp 8 65 42
Erythrohepatic Protoporphyria 65 42
Protoporphyria Erythropoietic 44


Classifications:

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


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Disease Ontology8 DOID:13270
MeSH34 D046351
SNOMED-CT57 51022005
NCIt39 C84698
OMIM46 177000

Related Diseases for Erythropoietic Protoporphyria

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1microcytic anemia30.7TF, ALAS2
2porphyria30.6CPOX, FECH, ALAD, ALAS2, HMBS, TF
3liver cirrhosis30.5HMBS, CYP2E1, TF
4hemochromatosis30.5IREB2, TF
5porphyria cutanea tarda30.2PPOX, TF, CPOX, FECH, UROS, ALAD
6acute porphyria29.8FECH, ALAD, HMOX1, HMBS, CPOX, PPOX
7breast cancer29.7SP1, CPOX, BTC, EREG
8leukemia29.7HMBS, HMOX1, ALAS2, CYP2E1, SP1
9hepatitis10.9
10liver disease10.8
11erythropoietic protoporphyria, autosomal recessive10.6
12keratoderma10.5
13cholestasis10.5
14photosensitivity disease10.5
15polyneuropathy10.5
16cutaneous porphyria10.4UROS
17hepatoerythropoietic porphyria10.4UROS
18lipoid proteinosis10.4
19lupus erythematosus10.4
20x-linked protoporphyria10.4
21protoporphyria, erythropoietic, x-linked10.4
22blindness10.4
23siderosis10.3TF
24macrocytic anemia10.2ALAS2, TF
25galactosemia10.2CPOX, FECH
26alagille syndrome10.2
27alport syndrome10.2
28aplastic anemia10.2
29burns10.2
30cholangiocarcinoma10.2
31cystinuria10.2
32hematopoietic stem cell transplantation10.2
33myelodysplastic syndromes10.2
34schizophrenia10.2
35systemic lupus erythematosus10.2
36thalassemia10.2
37acute pancreatitis10.2
38sclerosing cholangitis10.2
39choledocholithiasis10.2
40beta thalassemia10.2
41paralytic ileus10.2
42porokeratosis10.2
43angioedema10.2
44cholangitis10.2
45contact dermatitis10.2
46dermatitis10.2
47histiocytosis10.2
48hyperthyroidism10.2
49pancreatitis10.2
50purpura10.2

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



Diseases related to erythropoietic protoporphyria

Symptoms for Erythropoietic Protoporphyria

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Clinical features from OMIM:

177000

Drugs & Therapeutics for Erythropoietic Protoporphyria

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Drug clinical trials:

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Genetic Tests for Erythropoietic Protoporphyria

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Genetic tests related to Erythropoietic Protoporphyria:

id Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria22

Anatomical Context for Erythropoietic Protoporphyria

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MalaCards organs/tissues related to Erythropoietic Protoporphyria:

32
Liver, Skin, Bone, Bone marrow, Spleen, Testes, Eye

Animal Models for Erythropoietic Protoporphyria or affiliated genes

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MGI Mouse Phenotypes related to Erythropoietic Protoporphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7TF, FECH, UROS, BTC, EREG, HMOX1
2MP:00107717.7SP1, FECH, UROS, ALAS2, EREG, SLC25A37
3MP:00053707.1SP1, CYP2E1, FECH, IREB2, UROS, HMOX1
4MP:00053976.7SP1, TF, FECH, IREB2, UROS, ALAS2
5MP:00107686.0FECH, CYP2E1, TF, SP1, IREB2, UROS
6MP:00053765.5SLC25A37, SP1, TF, CYP2E1, FECH, IREB2

Publications for Erythropoietic Protoporphyria

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Articles related to Erythropoietic Protoporphyria:

(show top 50)    (show all 484)
idTitleAuthorsYear
1
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. (24680888)
2014
2
Erythropoietic protoporphyria in a boy. (25392202)
2014
3
Oxidative stress, Nrf2 and keratin up-regulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria. (22334478)
2012
4
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
5
Inheritance in erythropoietic protoporphyria]. (20850938)
2010
6
The role for BMT in erythropoietic protoporphyria. (19525986)
2010
7
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (18787536)
2009
8
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. (19055472)
2009
9
N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria. (19243001)
2009
10
Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria. (19268001)
2009
11
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family. (18758989)
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
Erythropoietic protoporphyria and iron therapy. (2322503)
1990
28
Erythropoietic protoporphyria. The problem of a suitable screening test. (1977265)
1990
29
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
30
Erythropoietic protoporphyria presenting in adulthood. (2774610)
1989
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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Clinvar genetic disease variations for Erythropoietic Protoporphyria:

6
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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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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Compounds for genes affiliated with Erythropoietic Protoporphyria

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Compounds related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1Protoporphyrinogen IX2410.3PPOX, CPOX
2ppix4410.2PPOX, FECH, HMBS
3Coproporphyrinogen III2410.1UROS, CPOX
4heme arginate4410.1HMOX1, HMBS
5mesoporphyrin4410.1HMOX1, FECH
6pyrrole4410.0CPOX, FECH
7uroporphyrin i4410.0HMBS, ALAD, UROS
8isopropanol449.9CYP2E1, HMOX1
9hydroxymethylbilane44 2410.8HMBS, UROS, FECH, PPOX
10mspi449.8HMBS, ALAD, CYP2E1
11ethylenediaminetetraacetic acid449.8FECH, ALAD
12lead449.8CPOX, FECH, ALAD, HMBS
13isosorbide dinitrate44 50 1111.8CYP2E1, HMOX1
14uroporphyrin449.7CPOX, UROS, ALAD, HMBS
15protoporphyrinogen449.6HMBS, ALAD, FECH, CPOX, PPOX
16iron-sulfur449.6ALAS2, IREB2, FECH
17copper44 2410.6ALAD, FECH, CPOX, TF
18uroporphyrinogen-iii449.5CPOX, PPOX, FECH, UROS, HMBS
19zinc protoporphyrin449.5TF, FECH, ALAD, HMOX1
20fe3+449.4IREB2, FECH, TF
21ferric ammonium citrate449.4IREB2, TF
22phenobarbital44 28 50 1112.4HMBS, HMOX1, CYP2E1, TF
23succinylacetone449.3TF, IREB2, ALAD
24porphobilinogen44 24 1111.2PPOX, CPOX, FECH, UROS, ALAD, HMBS
25porphyrin449.2PPOX, CPOX, FECH, UROS, ALAD, HMBS
26haem449.2HMBS, HMOX1, ALAS2, FECH, CPOX, PPOX
27dimethyl sulfate449.2HMOX1, SP1
28ascorbic acid44 2410.2HMOX1, ALAD, CYP2E1, TF
29resveratrol44 61 24 1112.1HMOX1, CYP2E1, SP1
30prostacyclin449.1SP1, TF, CPOX, HMOX1
31formyl-coa44 2410.0ALAD, ALAS2, HMBS, UROS, FECH, CPOX
32deferoxamine44 1110.0HMOX1, IREB2, FECH, TF
33lactate448.9TF, CYP2E1, CPOX, ALAD, HMOX1
34Water248.9PPOX, CYP2E1, CPOX, UROS, HMOX1, HMBS
35arginine448.8PPOX, SP1, CPOX, ALAS2, HMOX1, HMBS
36cycloheximide448.8SP1, CPOX, ALAS2, BTC, HMOX1, HMBS
37ethanol44 50 24 1111.8CYP2E1, CPOX, IREB2, ALAD, HMBS
38sodium nitroprusside448.8HMOX1, IREB2, TF
39alanine448.7SP1, TF, CPOX, FECH, ALAS2, HMOX1
40zinc44 249.6ALAS2, ALAD, IREB2, FECH, SP1
41actinomycin d448.6SP1, CPOX, IREB2, HMOX1
42n acetylcysteine448.5SP1, TF, IREB2, HMOX1
43protoporphyrin ix44 24 1110.5PPOX, TF, CPOX, FECH, ALAD, ALAS2
44nitric oxide44 24 1110.5CPOX, FECH, IREB2, ALAD, HMOX1, HMBS
45citrate448.4SP1, TF, CPOX, IREB2, HMOX1
46h2o2448.3SP1, CYP2E1, CPOX, IREB2, HMOX1
47oxygen44 249.2PPOX, CYP2E1, CPOX, FECH, IREB2, ALAS2
485-aminolevulinic acid44 248.7PPOX, CPOX, FECH, IREB2, UROS, ALAD
49heme28 24 119.1HMBS, SLC25A37, HMOX1, ALAS2, PPOX, TF
50iron44 247.7PPOX, TF, CPOX, FECH, IREB2, UROS

GO Terms for genes affiliated with Erythropoietic Protoporphyria

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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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