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, 44Novoseek, 60UMLS, 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
Erythropoietic protoporphyria: spectrum of three cases. (22971305)
2012
2
Erythropoietic protoporphyria and early onset of cholestasis. (23692792)
2012
3
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. (20337824)
2010
4
Erythropoietic protoporphyria: a case report and literature review. (20725556)
2010
5
The diagnosis and management of erythropoietic protoporphyria. (21960936)
2008
6
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
7
The difficult clinical diagnosis of erythropoietic protoporphyria. (17298219)
2006
8
Molecular studies of liver disease in erythropoietic protoporphyria. (15758654)
2005
9
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. (15286165)
2004
10
Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. (14567969)
2003
11
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. (11929053)
2002
12
Anaesthetic management of erythropoietic protoporphyria. (11012967)
2000
13
Liver transplantation for erythropoietic protoporphyria: report of a case with medium-term follow-up. (11215562)
2000
14
Erythropoietic protoporphyria with antinuclear antibody positivity: avoiding misdiagnosis of systemic lupus erythematosus. (10780801)
2000
15
Examination of ferrochelatase mutations that cause erythropoietic protoporphyria. (9573038)
1998
16
The treatment of erythropoietic protoporphyria. (9875559)
1998
17
Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene. (9347801)
1997
18
A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria. (8757534)
1996
19
Erythropoietic protoporphyria without cutaneous photosensitivity and with ringed sideroblasts in an atomic bomb survivor. (8598718)
1996
20
Erythropoietic protoporphyria: two populations of reticulocytes, with and without protoporphyrin. (8732483)
1996
21
Hepatic complications of erythropoietic protoporphyria. (8123583)
1994
22
Hemoglobin oxygen affinity is increased in erythropoietic protoporphyria. (8337262)
1993
23
Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases. (8129282)
1993
24
Terminal hepatic failure in erythropoietic protoporphyria. (8408820)
1993
25
Cysteine ameliorates photosensitivity in erythropoietic protoporphyria. (8215512)
1993
26
Erythropoietic protoporphyria and iron therapy. (2322503)
1990
27
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. (2384686)
1990
28
Inhibition of photosensitivity in erythropoietic protoporphyria with terfenadine. (1973359)
1990
29
A case of erythropoietic protoporphyria. (3241583)
1988
30
Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. (3335288)
1988
31
Iron therapy for hepatic dysfunction in erythropoietic protoporphyria. (3717807)
1986
32
Newer aspects on the treatment of erythropoietic protoporphyria. (3982990)
1985
33
Protoporphyrin-induced photohemolysis: differences related to the subcellular distribution of protoporphyrin in erythropoietic protoporphyria and when added to normal red cells. (7202808)
1981
34
Transfusion therapy in a patient with erythropoietic protoporphyria. (7469447)
1981
35
Erythropoietic protoporphyria. (7428427)
1980
36
A national register for erythropoietic protoporphyria. (526831)
1979
37
Hepatic failure and death from erythropoietic protoporphyria. (631490)
1978
38
Erythropoietic protoporphyria. 10 years experience. (1251847)
1976
39
Liver inclusions in erythropoietic protoporphyria. (1122921)
1975
40
Beta-carotene as an oral photoprotective agent in erythropoietic protoporphyria. (4406335)
1974
41
Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. (4785438)
1973
42
Erythropoietic protoporphyria. The first case in Finland. (4749242)
1973
43
Erythropoietic protoporphyria. (5173287)
1971
44
Erythropoietic protoporphyria (notes on a case). (5359786)
1969
45
Erythropoietic protoporphyria: a report of the first South Australian case. (5353488)
1969
46
Electron microscopy of the skin in erythropoietic protoporphyria. (5675996)
1968
47
Erythropoietic protoporphyria. Report of a family and a clinical review. (5835322)
1965
48
ERYTHROPOIETIC PROTOPORPHYRIA. I. CLINICAL AND LABORABORY FEATURES IN SEVEN NEW CASES. (14338805)
1965
49
ERYTHROPOIETIC PROTOPORPHYRIA AND PHOTOHEMOLYSIS. (14150000)
1964
50
ERYTHROPOIETIC PROTOPORPHYRIA PRESENTING AS HYDROA AESTIVALE. (14070821)
1964

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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25ICD10
26ICD10 via Orphanet
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