EPP
MCID: ERY009
MIFTS: 56

Erythropoietic Protoporphyria (EPP) malady

Summaries for Erythropoietic Protoporphyria

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Erythropoietic Protoporphyria, also known as ferrochelatase deficiency, is related to hepatitis and porphyria. An important gene associated with Erythropoietic Protoporphyria is FECH (ferrochelatase), and among its related pathways are Glucuronidation and Iron metabolism in placenta. The compounds cycloheximide and ppix have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Wikipedia:63 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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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 10DISEASES, 60UMLS, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM
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Aliases & Descriptions:

erythropoietic protoporphyria 8 63 42 22 10 60
ferrochelatase deficiency 63 42 60
protoporphyria 8 63 42
epp 8 63 42
erythrohepatic protoporphyria 63 42
heme synthetase deficiency 63 42
protoporphyria erythropoietic 44


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Disease Ontology8 DOID:13270
MeSH34 D046351
SNOMED-CT56 51022005
NCIt39 C84698
OMIM46 177000

Related Diseases for Erythropoietic Protoporphyria

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17GeneCards, 18GeneDecks
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Diseases related to Erythropoietic Protoporphyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.3CYP2E1
2porphyria31.0TF, HMBS, ALAD, ALAS2, CPOX, PPOX
3porphyria cutanea tarda30.7FECH, UROS, PPOX, TF, HMBS, ALAD
4acute porphyria30.4CPOX, ALAD, HMOX1, HMBS, PPOX, FECH
5iron deficiency anemia30.3FECH, IREB2, TF
6microcytic anemia30.2TF, ALAS2
7hemochromatosis30.2IREB2, TF
8deficiency anemia30.2FECH, TF, HMBS, ALAS2, ALAD, IREB2
9liver disease10.7
10erythropoietic protoporphyria, autosomal recessive10.7
11photosensitivity disease10.5
12hepatitis a10.5
13cholestasis10.5
14polyneuropathy10.4
15lipoid proteinosis10.3
16liver cirrhosis10.3
17lupus erythematosus10.3
18protoporphyria, erythropoietic, x-linked10.3
19hypochromic microcytic anemia10.2
20hypochromic anemia10.2
21acute liver failure10.2
22burns10.2
23paralytic ileus10.2
24alport syndrome10.2
25acute pancreatitis10.2
26beta thalassemia10.2
27systemic lupus erythematosus10.2
28cystinuria10.2
29alagille syndrome10.2
30choledocholithiasis10.2
31sclerosing cholangitis10.2
32porokeratosis10.2
33angioedema10.2
34aplastic anemia10.2
35autosomal recessive disease10.2
36cholangitis10.2
37contact dermatitis10.2
38dermatitis10.2
39histiocytosis10.2
40hyperthyroidism10.2
41leukemia10.2
42pancreatitis10.2
43purpura10.2
44schizophrenia10.2
45skin disease10.2
46thalassemia10.2
47urticaria10.2
48vasculitis10.2
49ventricular septal defect10.2
50congenital erythropoietic porphyria10.2

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



Diseases related to erythropoietic protoporphyria

Clinical Features for Erythropoietic Protoporphyria

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46OMIM
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Clinical features from OMIM:

177000

Drugs & Therapeutics for Erythropoietic Protoporphyria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Drug clinical trials:

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Genetic Tests for Erythropoietic Protoporphyria

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22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Erythropoietic Protoporphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.1FECH, IREB2, UROS, CYP2E1, HMOX1, SLC25A37
2MP:00053976.3FECH, IREB2, UROS, TF, EPX, HMOX1
3MP:00107686.1IREB2, UROS, TF, BTC, CYP2E1, HMBS
4MP:00053765.6ALAS2, FECH, IREB2, UROS, TF, BTC

Publications for Erythropoietic Protoporphyria

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50PubMed
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Articles related to Erythropoietic Protoporphyria:

(show top 50)    (show all 480)
idTitleAuthorsYear
1
Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria. (23738640)
2013
2
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population. (22591014)
2013
3
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. (20412370)
2011
4
Vitamin D deficiency in patients with erythropoietic protoporphyria. (24137761)
2010
5
Clinical implications of advances in understanding the inheritance of erythropoietic protoporphyria. (20222927)
2010
6
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria. (19055472)
2009
7
Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. (18252165)
2008
8
Symptomatic response of erythropoietic protoporphyria to iron supplementation. (17504727)
2007
9
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members. (17711525)
2007
10
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. (17804693)
2007
11
Erythropoietic protoporphyria advances today, with a special tribute to the late Professor Ian Magnus. (16911273)
2006
12
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. (16385445)
2006
13
Late-onset erythropoietic protoporphyria in association with haematological malignancy. (16901306)
2006
14
Variable effects of beta-carotene therapy in a child with erythropoietic protoporphyria. (15241683)
2004
15
A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters. (12737948)
2003
16
Long-term treatment of erythropoietic protoporphyria with cysteine. (12535027)
2002
17
Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyria. (11923691)
2002
18
Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis. (10832676)
2000
19
Perioperative measures during liver transplantation for erythropoietic protoporphyria. (8291103)
1994
20
Picture of the month. Erythropoietic protoporphyria. (8418605)
1993
21
A case of erythropoietic protoporphyria with severe liver dysfunction suggesting a close relationship between erythrocyte protoporphyrin levels and those of gamma-GTP. (1791242)
1991
22
Metabolic cirrhosis (hemochromatosis, Wilson's disease, erythropoietic protoporphyria)]. (2063117)
1991
23
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
24
Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls. (2378891)
1990
25
Erythropoietic protoporphyria exacerbated by oral iron therapy. (3408665)
1988
26
Erythropoietic protoporphyria showing solar purpura. (6642040)
1983
27
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria. (6804493)
1982
28
Beta-carotene in erythropoietic protoporphyria: 5 years' experience. (478047)
1979
29
Comparative study of protoporphyrins in erythropoietic protoporphyria and griseofulvin-induced murine protoporphyria. Binding affinities, distribution, and fluorescence spectra in various blood fractions. (874098)
1977
30
In vitro studies on the protoporphyrin uptake and photosensitivity of normal skin fibroblasts and fibroblasts from patients with erythropoietic protoporphyria. (925378)
1977
31
Erythropoietic protoporphyria--report of a family and clinical review. (15461332)
1977
32
Haem biosynthesis in peripheral blood in erythropoietic protoporphyria. (603977)
1977
33
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria. (832411)
1977
34
Characterization of protoporphyrin in red blood cells of patients with erythropoietic protoporphyria. (1175305)
1975
35
Erythropoietic protoporphyria. A clinical study based on 29 cases in 14 families. (4420906)
1974
36
Letter: Etiology of erythropoietic protoporphyria, and protection of photosensitive subjects. (4140668)
1974
37
Cholesterol hydroperoxide formation in red cell membranes and photohemolysis in erythropoietic protoporphyria. (4689217)
1973
38
Erythropoietic protoporphyria: lipid peroxidation and red cell membrane damage associated with photohemolysis. (5014616)
1972
39
Erythropoietic protoporphyria. Report of a case successfully treated with carotene. (5017268)
1972
40
Photoreactions associated with in vitro hemolysis in erythropoietic protoporphyria. (5546955)
1971
41
Erythropoietic protoporphyria. (5152975)
1971
42
Lipoid proteinosis and erythropoietic protoporphyria. A histological and histochemical study. (4107631)
1971
43
Erythropoietic protoporphyria. (5780976)
1969
44
Erythropoietic protoporphyria: photosensitivity patterns in man and laboratory animals. (6040050)
1967
45
Erythropoietic protoporphyria. (Two cases--brother and sister). (6024596)
1967
46
Erythropoietic protoporphyria. A study of known cases in Sweden. (5219946)
1966
47
Histochemistry of the skin in erythropoietic protoporphyria. (5924578)
1966
48
Erythropoietic protoporphyria. (5958885)
1966
49
Erythropoietic protoporphyria. (5967047)
1966
50
ERYTHROPOIETIC PROTOPORPHYRIA. A NEW TYPE OF INBORN ERROR OF METABOLISM. (14072370)
1963

Genetic Variations for Erythropoietic Protoporphyria

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Expression for genes affiliated with Erythropoietic Protoporphyria

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB, 53Reactome
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Compounds for genes affiliated with Erythropoietic Protoporphyria

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.6BTC
2ppix4410.2HMBS, PPOX, FECH
3pyrrole4410.2FECH, CPOX
4mesoporphyrin4410.2HMOX1, FECH
5heme arginate4410.1HMOX1, HMBS
6uroporphyrin i4410.0ALAD, UROS, HMBS
7ethylenediaminetetraacetic acid449.9ALAD, FECH
8isopropanol449.9CYP2E1, HMOX1
9hydroxymethylbilane44 2410.9FECH, HMBS, PPOX, UROS
10mspi449.8HMBS, ALAD, CYP2E1
11isosorbide dinitrate44 49 1111.8CYP2E1, HMOX1
12iron-sulfur449.8FECH, IREB2, ALAS2
13lead449.7CPOX, HMBS, FECH, ALAD
14trichloroethylene449.7CYP2E1, ALAD
15uroporphyrin449.7HMBS, ALAD, CPOX, UROS
16ferric ammonium citrate449.7TF, IREB2
17uroporphyrinogen-iii449.6UROS, PPOX, CPOX, FECH, HMBS
18fe3+449.6IREB2, TF, FECH
19copper44 2410.6FECH, TF, ALAD, CPOX
20protoporphyrinogen449.5HMBS, CPOX, FECH, PPOX, ALAD
21succinylacetone449.5TF, IREB2, ALAD
22acetyl-l-carnitine449.5CPOX, HMOX1
23phenobarbital44 28 1111.5HMOX1, TF, HMBS, CYP2E1
24zinc protoporphyrin449.4FECH, TF, HMOX1, ALAD
25porphyrin449.2HMBS, PPOX, FECH, ALAD, CPOX, UROS
26porphobilinogen44 11 2411.2FECH, CPOX, HMBS, PPOX, UROS, ALAD
27deferoxamine44 1110.2HMOX1, TF, IREB2, FECH
28dimethyl sulfate449.2SP1, HMOX1
29ascorbic acid44 2410.1CYP2E1, TF, ALAD, HMOX1
30superoxide44 2410.1CPOX, FECH, ALAD, HMOX1, EPX
31butyrate449.1HMBS, SP1, ALAS2, EPX
32formyl-coa44 2410.0ALAS2, FECH, UROS, PPOX, HMBS, ALAD
33ethanol44 49 11 2412.0ALAD, HMBS, CYP2E1, IREB2, CPOX
34haem449.0FECH, CPOX, ALAS2, HMOX1, HMBS, EPX
35dexamethasone44 49 28 1111.9CYP2E1, EPX, SP1
36prostacyclin448.9CPOX, TF, HMOX1, SP1
37lactate448.7TF, CPOX, EPX, ALAD, HMOX1, CYP2E1
38pge2448.6TF, CPOX, EPX, HMOX1, SP1
39arginine448.5HMOX1, HMBS, CPOX, ALAS2, SP1, PPOX
40protoporphyrin ix44 11 2410.5CPOX, ALAS2, ALAD, HMOX1, HMBS, TF
41n acetylcysteine448.5IREB2, HMOX1, SP1, TF
42alanine448.4FECH, SP1, CPOX, HMOX1, ALAS2, TF
43nitric oxide44 11 2410.4CPOX, ALAD, HMOX1, FECH, EPX, IREB2
44citrate448.4IREB2, TF, CPOX, SP1, HMOX1
45oxygen44 249.2ALAS2, IREB2, PPOX, EPX, CYP2E1, HMOX1
46h2o2448.0EPX, CYP2E1, SP1, IREB2, CPOX, HMOX1
47cysteine448.0IREB2, HMOX1, EPX, SP1, CYP2E1, FECH
485-aminolevulinic acid44 249.0HMBS, PPOX, UROS, IREB2, FECH, HMOX1
49heme28 11 249.0FECH, ALAS2, CPOX, UROS, ALAD, SLC25A37
50iron44 247.7CPOX, UROS, ALAS2, ALAD, SLC25A37, HMOX1

GO Terms for genes affiliated with Erythropoietic Protoporphyria

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16Gene Ontology
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Cellular components related to Erythropoietic Protoporphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.3CPOX, ALAS2, SLC25A37, FECH
2mitochondrionGO:0057398.1CPOX, IREB2, UROS, TF, CYP2E1, ALAS2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte homeostasisGO:0341019.4HMOX1, IREB2
2iron ion homeostasisGO:0550729.0SLC25A37, HMOX1, FECH
3heme biosynthetic processGO:0067838.7FECH, CPOX, ALAS2, ALAD, HMBS, PPOX
4cellular iron ion homeostasisGO:0068798.7IREB2, TF, HMOX1, ALAS2
5protoporphyrinogen IX biosynthetic processGO:0067828.3PPOX, UROS, IREB2, HMBS, ALAD, CPOX
6porphyrin-containing compound metabolic processGO:0067788.2CPOX, ALAS2, ALAD, HMOX1, HMBS, PPOX
7small molecule metabolic processGO:0442816.2HMBS, CYP2E1, PPOX, UROS, FECH, HMOX1

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:0200379.0HMOX1, CYP2E1, EPX, FECH

Products for genes affiliated with Erythropoietic Protoporphyria

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Sources for Erythropoietic Protoporphyria

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3CDC
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22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
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