HEP
MCID: PRP003
MIFTS: 75

Porphyria Cutanea Tarda (HEP) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Skin diseases, Liver diseases categories
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Summaries for Porphyria Cutanea Tarda

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Porphyria cutanea tarda (pct) is the most common type of porphyria with a prevalence of approximately 1 in 10,000. it is characterized by cutaneous blisters that develop on sun-exposed areas of the skin such as the hands and face. the skin in these areas may blister or peel after minor trauma. increased hair growth, as well as darkening and thickening, of the skin may also occur. neurological and abdominal symptoms are not characteristic of pct. liver function abnormalities are common, but are usually mild. progression to cirrhosis and even liver cancer occurs in some patients. pct is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. excess iron and multiple other susceptibility factors, including alcohol, estrogens, smoking, chronic hepatitis c, hiv and mutations in the hfe gene which is associated with the disease hemochromatosis, contribute to the development of pct. pct is managed with regular phlebotomies or a low dose regimen of hydroxychloroquine as well as removal of factors that activated the disease. last updated: 1/21/2011

MalaCards: Porphyria Cutanea Tarda, also known as uroporphyrinogen decarboxylase deficiency, is related to porphyria and hepatitis, and has symptoms including hepatic/liver neoplasm/tumor/carcinoma/cancer, obnubilation/coma/lethargia/desorientation and acute palsy. An important gene associated with Porphyria Cutanea Tarda is UROD (uroporphyrinogen decarboxylase), and among its related pathways are Metabolism of porphyrins and HIF-1-alpha transcription factor network. The drugs hydroxychloroquine and hydroxychloroquine sulfate and the compounds coproporphyrin i and uroporphyrin i have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related mouse phenotypes are liver/biliary system and immune system.

Wikipedia:65 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...

Description from OMIM:47 176100,176090

Aliases & Classifications for Porphyria Cutanea Tarda

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Sources:
49Orphanet, 62UMLS, 8Disease Ontology, 9diseasecard, 65Wikipedia, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 40NCIt, 35MeSH, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hepatoerythropoietic porphyria:
Prevalence: <1/1000000
porphyria cutanea tarda:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

porphyria cutanea tarda 8 9 65 43 22 47 10 45 49 62
uroporphyrinogen decarboxylase deficiency 65 62
hepatoerythropoietic porphyria 49 62
pct 65 49
porphyria, hepatic 43
porphyria hepatic 45
urod deficiency 65
familial pct 65
hep 49


External Ids:

Disease Ontology8 DOID:3132
NCIt40 C27725
MeSH35 D017119
MESH via Orphanet36 D017121, D017119
SNOMED-CT58 61860000
ICD10 via Orphanet26 E80.2, E80.1
SNOMED-CT via Orphanet59 111386004, 61860000
UMLS via Orphanet63 C0162569, C0268324, C0162566
ICD1025 E80.1

Related Diseases for Porphyria Cutanea Tarda

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17GeneCards, 18GeneDecks
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Diseases in the Porphyria Cutanea Tarda family:

Porphyria Cutanea Tarda, Type Ii

Diseases related to Porphyria Cutanea Tarda via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria32.4HFE, ALAD, UROD, FECH, TF, PPOX
2hepatitis32.0CYP1A2, TF, HFE
3hepatitis c31.9CYP1A2, TF, HFE
4hemochromatosis31.5TF, HAMP, TFRC, HFE2, HFE
5erythropoietic protoporphyria31.1PPOX, FECH
6acute intermittent porphyria31.0FECH, ALAD, UROD, PPOX
7viral hepatitis30.9UROD, HFE
8hepatocellular carcinoma30.9TF, HFE, UROD, CYP1A2
9variegate porphyria30.9HFE, ALAD, UROD, FECH, PPOX
10hereditary coproporphyria30.9ALAD, FECH, PPOX
11siderosis30.9HFE, TF, TFRC, UROD
12hepatitis b30.8CYP1A2, HFE, TFRC
13beta thalassemia30.8TF, HFE, TFRC
14myelodysplastic syndromes30.7HFE, TFRC, TF
15acute porphyria30.7PPOX, UROD, ALAD, FECH
16cutaneous porphyria30.7UROD
17hemosiderosis30.6TF, HFE
18hemolytic anemia30.5HFE, TFRC, TF
19liver cirrhosis30.5HFE, CYP1A2, TF
20hepatitis c virus11.1
21lupus erythematosus10.9
22hepatoerythropoietic porphyria10.9
23leukemia10.8
24systemic lupus erythematosus10.8
25liver disease10.7
26scleroderma10.7
27porphyria cutanea tarda, type ii10.7
28acquired immunodeficiency syndrome10.6
29cutaneous lupus erythematosus10.6
30diabetes mellitus10.6
31subacute cutaneous lupus erythematosus10.6
32alopecia10.6
33hypertrichosis10.6
34peritonitis10.6
35discoid lupus erythematosus10.6
36hepatoblastoma10.6
37lichen planus10.5
38constrictive pericarditis10.5
39vitiligo10.5
40arthritis10.5
41cholestasis10.5
42epidermolysis bullosa10.5
43myelofibrosis10.5
44pericarditis10.5
45thalassemia10.5
46hiv/aids10.5
47chronic hepatic porphyria10.5
48acute liver failure10.3
49lymphoid leukemia10.3
50membranoproliferative glomerulonephritis10.3

Graphical network of the top 20 diseases related to Porphyria Cutanea Tarda:



Diseases related to porphyria cutanea tarda

Symptoms for Porphyria Cutanea Tarda

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

176090

Clinical features from OMIM:

176100,176090

Symptoms:

49 (show all 19)
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • obnubilation/coma/lethargia/desorientation
  • acute palsy
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • liver/hepatic steatosis
  • storage liver disease
  • cirrhosis
  • hirsutism/hypertrichosis/increased body hair
  • thin skin
  • hemolytic anemia
  • autosomal dominant inheritance
  • skin photosensitivity
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • abnormal scarring/cheloids/hypertrophic scars
  • cutaneous edema

Drugs & Therapeutics for Porphyria Cutanea Tarda

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Porphyria Cutanea Tarda

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Porphyria Cutanea Tarda

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22GTR
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Genetic tests related to Porphyria Cutanea Tarda:

id Genetic test Affiliating Genes
1 Porphyria Cutanea Tarda22

Anatomical Context for Porphyria Cutanea Tarda

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33MalaCards
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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

33
Skin, Liver, Eye, Testes, Bone marrow, Myeloid, Bone, Whole blood, Breast

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.8HFE, TFRC, CYP1A2, FECH, UROD, HFE2
2MP:00053877.5TFRC, CYP1A2, FECH, HFE2, HFE, HAMP
3MP:00053976.8HAMP, TF, TFRC, CYP1A2, FECH, HFE2
4MP:00053766.6HAMP, TF, TFRC, CYP1A2, FECH, UROD
5MP:00107686.3HAMP, TF, TFRC, CYP1A2, FECH, UROD

Publications for Porphyria Cutanea Tarda

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52PubMed
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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
Porphyria cutanea tarda and spherocytosis: a non-random association? (23093332)
2013
2
Dermacase. Can you identify this condition? Porphyria cutanea tarda. (23851543)
2013
3
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
4
Porphyria cutanea tarda: treatment options revisited. (22982098)
2012
5
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
6
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
7
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
8
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
9
Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. (18477147)
2008
10
Effect of iron and ascorbate on uroporphyria in ascorbate-requiring mice as a model for porphyria cutanea tarda. (17187429)
2007
11
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
12
Porphyria cutanea tarda in a patient with HIV-infection. (15861867)
2005
13
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
14
No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. (15202857)
2004
15
Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. (12737448)
2003
16
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
17
Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda. (12540785)
2003
18
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
19
Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. (11831056)
2002
20
Hepatitis C virus and GBV-C/hepatitis G virus in Argentine patients with porphyria cutanea tarda. (11509882)
2001
21
The HFE gene S65C polymorphism is rare among Bulgarian porphyria cutanea tarda patients. (11322214)
2001
22
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
23
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
24
Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?]. (11037612)
2000
25
Porphyria cutanea tarda. Don't forget to look at the urine. (10223097)
1999
26
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
27
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. (9918132)
1998
28
Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]. (9674292)
1998
29
Porphyria cutanea tarda associated with human immunodeficiency virus infection. (9854161)
1998
30
Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda. (9439724)
1997
31
Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. (8773911)
1996
32
Hepatitis C virus infection and porphyria cutanea tarda in Australasia. (8546493)
1996
33
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
34
Conjugal porphyria cutanea tarda. (7826090)
1995
35
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
36
Porphyria cutanea tarda in the setting of renal failure. Response to renal transplantation. (8095384)
1993
37
HCV infection in porphyria cutanea tarda. (7685054)
1993
38
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
39
Chronic scarring dermatoses: remember porphyria cutanea tarda. (1604737)
1992
40
High-dose hydroxychloroquine treatment of porphyria cutanea tarda. (1597548)
1992
41
Peritoneal dialysis does not reduce serum porphyrin levels in porphyria cutanea tarda. (1553013)
1992
42
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
43
Porphyria cutanea tarda and HIV infection. (2252569)
1990
44
Porphyria cutanea tarda and acquired immunodeficiency syndrome: case reports and literature review. (2256699)
1990
45
Porphyria cutanea tarda and scleroderma--chance association or related disease: a case report. (2208778)
1990
46
Acute scleritis in porphyria cutanea tarda. (2330942)
1990
47
Porphyria cutanea tarda after allogeneic bone marrow transplantation for chronic myelogenous leukemia. (2327408)
1990
48
Porphyria cutanea tarda resulting from primary hepatocellular carcinoma. (2850121)
1988
49
Generation of chemotactic activity in serum from patients with erythropoietic protoporphyria and porphyria cutanea tarda. (7442746)
1981
50
Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. (4785438)
1973

Variations for Porphyria Cutanea Tarda

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Porphyria Cutanea Tarda:

64 (show all 38)
id Symbol AA change Variation ID SNP ID
1URODp.Glu167LysVAR_007714
2URODp.Glu167LysVAR_007714
3URODp.Gly281GluVAR_007715
4URODp.Gly281ValVAR_007716
5URODp.Arg292GlyVAR_007717
6URODp.Ala80GlyVAR_007910
7URODp.Met165ArgVAR_007911
8URODp.Leu195PheVAR_007912
9URODp.Leu253GlnVAR_007913rs36033115
10URODp.Asn304LysVAR_007914
11URODp.Gly318ArgVAR_007915rs116233118
12URODp.Arg332HisVAR_007916
13URODp.Ile334ThrVAR_007917
14URODp.Pro62LeuVAR_009103
15URODp.Val134GlnVAR_009104
16URODp.Val134GlnVAR_009104
17URODp.His220ProVAR_009105
18URODp.Phe229LeuVAR_009106
19URODp.Tyr311CysVAR_009107
20URODp.Met324ThrVAR_009108
21URODp.Arg142GlnVAR_010985
22URODp.Leu161GlnVAR_010986
23URODp.Ser219PheVAR_010987
24URODp.Pro235SerVAR_010988
25URODp.Gly25GluVAR_022567
26URODp.Phe46LeuVAR_022568
27URODp.Ala80SerVAR_022569
28URODp.Arg144ProVAR_022570
29URODp.Gly156AspVAR_022571
30URODp.Arg193ProVAR_022572
31URODp.Leu216GlnVAR_022573
32URODp.Glu218LysVAR_022574
33URODp.Phe232LeuVAR_022575
34URODp.Ile260ThrVAR_022576
35URODp.Leu282ArgVAR_022577
36URODp.Gly303SerVAR_022578
37URODp.Gly168ArgVAR_065558
38URODp.Gly170AspVAR_065559

Clinvar genetic disease variations for Porphyria Cutanea Tarda:

1
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
8HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantBenign, Pathogenic, association, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Porphyria Cutanea Tarda

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Porphyria Cutanea Tarda

Search GEO for disease gene expression data for Porphyria Cutanea Tarda.

Pathways for genes affiliated with Porphyria Cutanea Tarda

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
8.9ALAD, UROD, FECH, PPOX
28.9FECH, TFRC, TF
38.9TF, TFRC, HAMP
4
Show member pathways
8.5FECH, PPOX, UROD, ALAD, CYP1A2

Compounds for genes affiliated with Porphyria Cutanea Tarda

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i45 1111.2UROD, ALAD
2uroporphyrin i4510.2UROD, ALAD
3griseofulvin45 1111.0FECH, CYP1A2
4pyrrole459.9UROD, FECH
5uroporphyrin459.9UROD, ALAD, HFE
6tcdd459.8UROD, CYP1A2
7aluminium citrate459.8TF, TFRC
8ethylenediaminetetraacetic acid459.8ALAD, FECH
9gallium459.8TF, TFRC
10deferiprone459.8TF, TFRC
11aluminium45 1110.7TFRC, TF
12bismuth45 2410.7TF, TFRC
13apotransferrin459.7TF, TFRC
14hydroxymethylbilane45 2410.7PPOX, FECH, UROD
15uroporphyrinogen-iii459.7PPOX, FECH, UROD
16antipyrine45 1110.7CYP1A2, TF
17ferric ammonium citrate459.7TF, TFRC
18phenobarbital45 29 51 1112.6TF, CYP1A2, UROD
19ppix459.5PPOX, TFRC, FECH
20tbps45 2910.5TF, TFRC
21lead459.5HFE, ALAD, FECH
22iron dextran45 1110.5TF, TFRC, UROD
23nh4cl459.5TFRC, TF
24histidine459.4FECH, UROD, HFE
25dmso459.4TFRC, FECH, UROD
26haem459.4PPOX, FECH, UROD, HFE
27s-nitroso-n-acetylpenicillamine459.4TFRC, FECH
28succinylacetone459.4ALAD, TFRC, TF
29vitamin b12459.3ALAD, TFRC, TF
30protoporphyrinogen459.3ALAD, UROD, FECH, PPOX
31formyl-coa45 2410.3PPOX, FECH, UROD, ALAD
32fe3+459.3FECH, TFRC, TF
33deferoxamine45 1110.3FECH, TFRC, TF
34testosterone45 61 24 1112.2TFRC, CYP1A2, ALAD, HFE
35bafilomycin a145 61 1111.1TFRC, TF
36ascorbic acid45 2410.1HFE, ALAD, TFRC, TF
37porphyrin459.0PPOX, FECH, UROD, ALAD, HFE
38ethanol45 51 24 1112.0HAMP, CYP1A2, UROD, ALAD, HFE
39copper45 2410.0TF, FECH, ALAD, HFE
40fe2+459.0TF, TFRC, FECH, HFE
41zinc protoporphyrin458.9ALAD, FECH, TFRC, TF
42porphobilinogen45 24 1110.9PPOX, TFRC, FECH, UROD, ALAD
43estrogen458.8TF, TFRC, CYP1A2, UROD, HFE
44oxygen45 249.7UROD, FECH, CYP1A2, PPOX, HAMP
45creatinine458.7HAMP, TF, TFRC, ALAD
465-aminolevulinic acid45 249.6PPOX, TFRC, FECH, UROD, ALAD, HFE
47alanine458.6HFE, FECH, TFRC, TF
48protoporphyrin ix45 24 1110.3PPOX, TF, TFRC, FECH, UROD, ALAD
49heme29 24 1110.1PPOX, TF, CYP1A2, FECH, UROD, ALAD
50iron45 247.6HFE, HAMP, PPOX, HFE2, ALAD, UROD

GO Terms for genes affiliated with Porphyria Cutanea Tarda

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16Gene Ontology
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Cellular components related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:0426129.9HFE, HLA-H
2basal part of cellGO:0451789.6HFE, TF
3recycling endosomeGO:0550379.6HFE, TF
4coated pitGO:0059059.3TF, TFRC
5cell surfaceGO:0099868.3HFE2, TFRC, TF

Biological processes related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of T cell mediated cytotoxicityGO:0019169.9HFE, HLA-H
2protoporphyrinogen IX biosynthetic processGO:0067829.5PPOX, UROD, ALAD
3immune responseGO:0069559.3HFE, HLA-H, HAMP
4transferrin transportGO:0335729.1TFRC, TF
5heme biosynthetic processGO:0067839.1PPOX, FECH, UROD, ALAD
6iron ion homeostasisGO:0550729.0HFE2, FECH
7porphyrin-containing compound metabolic processGO:0067788.7ALAD, UROD, FECH, CYP1A2, PPOX
8cellular iron ion homeostasisGO:0068798.7HFE, TFRC, TF, HAMP
9small molecule metabolic processGO:0442818.5PPOX, CYP1A2, FECH, UROD, ALAD

Molecular functions related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:0426059.9HFE, HLA-H

Products for genes affiliated with Porphyria Cutanea Tarda

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porphyria Cutanea Tarda

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet