HEP
MCID: PRP003
MIFTS: 75

Porphyria Cutanea Tarda (HEP) malady

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

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NIH Rare Diseases:42 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 based summary: Porphyria Cutanea Tarda, also known as uroporphyrinogen decarboxylase deficiency, is related to hepatitis and hepatitis c, and has symptoms including skin photosensitivity, thin skin and hemolytic anemia. 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...

Descriptions from OMIM:46 176100,176090

Aliases & Classifications for Porphyria Cutanea Tarda

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Sources:
48Orphanet, 62UMLS, 8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Porphyria Cutanea Tarda, Aliases & Descriptions:

Name: Porphyria Cutanea Tarda 8 9 65 42 22 46 10 44 48 62
Uroporphyrinogen Decarboxylase Deficiency 65 62
Hepatoerythropoietic Porphyria 48 62
Pct 65 48
Porphyria, Hepatic 42
 
Porphyria Hepatic 44
Urod Deficiency 65
Familial Pct 65
Hep 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hepatoerythropoietic porphyria:
Prevalence: <1/1000000
porphyria cutanea tarda:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:3132
MeSH34 D017119
NCIt39 C27725
SNOMED-CT57 61860000
MESH via Orphanet35 D017121, D017119
ICD10 via Orphanet26 E80.2, E80.1
UMLS via Orphanet63 C0162569, C0268324, C0162566
ICD1025 E80.1

Related Diseases for Porphyria Cutanea Tarda

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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 159)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis32.2HFE, CYP1A2, TF
2hepatitis c32.1HFE, CYP1A2, TF
3porphyria32.1UROD, FECH, TF, PPOX, ALAD, HFE
4erythropoietic protoporphyria31.5PPOX, FECH
5cutaneous porphyria31.3UROD
6viral hepatitis31.2HFE, UROD
7hereditary coproporphyria31.1PPOX, FECH, ALAD
8acute intermittent porphyria31.0ALAD, UROD, FECH, PPOX
9siderosis31.0HFE, UROD, TFRC, TF
10hemochromatosis30.9HAMP, TF, TFRC, HFE2, HFE
11hepatitis b30.9HFE, CYP1A2, TFRC
12beta thalassemia30.9HFE, TFRC, TF
13hemosiderosis30.9HFE, TF
14myelodysplastic syndromes30.9TF, TFRC, HFE
15variegate porphyria30.8HFE, ALAD, UROD, FECH, PPOX
16acute porphyria30.8PPOX, FECH, UROD, ALAD
17congenital erythropoietic porphyria30.8FECH, UROD, ALAD
18hemolytic anemia30.7TF, TFRC, HFE
19liver cirrhosis30.7TF, CYP1A2, HFE
20liver cancer30.4TF, CYP1A2, UROD, HFE
21hepatitis c virus11.2
22lupus erythematosus10.9
23hepatoerythropoietic porphyria10.9
24leukemia10.8
25systemic lupus erythematosus10.8
26liver disease10.7
27scleroderma10.7
28porphyria cutanea tarda, type ii10.7
29diabetes mellitus10.6
30hepatocellular carcinoma10.6
31acquired immunodeficiency syndrome10.6
32cutaneous lupus erythematosus10.6
33subacute cutaneous lupus erythematosus10.6
34hepatoblastoma10.6
35alopecia10.6
36hypertrichosis10.6
37peritonitis10.6
38discoid lupus erythematosus10.6
39microvascular complications of diabetes 710.5HFE
40arthritis10.5
41hiv/aids10.5
42myelofibrosis10.5
43thalassemia10.5
44vitiligo10.5
45lichen planus10.5
46constrictive pericarditis10.5
47cholestasis10.5
48epidermolysis bullosa10.5
49pericarditis10.5
50refractory anemia10.5

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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Symptoms by clinical synopsis from OMIM:

176090

Clinical features from OMIM:

176100,176090

Symptoms:

48 (show all 19)
  • skin photosensitivity
  • thin skin
  • hemolytic anemia
  • autosomal dominant inheritance
  • 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
  • hirsutism/hypertrichosis/increased body hair
  • cirrhosis
  • storage liver disease
  • liver/hepatic steatosis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • acute palsy
  • obnubilation/coma/lethargia/desorientation
  • hepatic/liver neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Porphyria Cutanea Tarda:

(show all 36)
id Description Frequency HPO Source Accession
1 thin skin hallmark (90%) HP:0000963
2 skin rash hallmark (90%) HP:0000988
3 cutaneous photosensitivity hallmark (90%) HP:0000992
4 hypopigmented skin patches hallmark (90%) HP:0001053
5 irregular hyperpigmentation hallmark (90%) HP:0007400
6 abnormal blistering of the skin hallmark (90%) HP:0008066
7 thin skin hallmark (90%) HP:0000963
8 cutaneous photosensitivity hallmark (90%) HP:0000992
9 hemolytic anemia hallmark (90%) HP:0001878
10 edema occasional (7.5%) HP:0000969
11 atypical scarring of skin occasional (7.5%) HP:0000987
12 hypertrichosis occasional (7.5%) HP:0000998
13 cirrhosis occasional (7.5%) HP:0001394
14 hepatic steatosis occasional (7.5%) HP:0001397
15 sudden cardiac death occasional (7.5%) HP:0001645
16 neoplasm of the liver occasional (7.5%) HP:0002896
17 reduced consciousness/confusion occasional (7.5%) HP:0004372
18 cerebral palsy occasional (7.5%) HP:0100021
19 autosomal dominant inheritance HP:0000006
20 hyperpigmentation of the skin HP:0000953
21 eczema HP:0000964
22 hypertrichosis HP:0000998
23 fragile skin HP:0001030
24 hepatic fibrosis HP:0001395
25 heterogeneous HP:0001425
26 porphyrinuria HP:0010473
27 autosomal dominant inheritance HP:0000006
28 cutaneous photosensitivity HP:0000992
29 fragile skin HP:0001030
30 cirrhosis HP:0001394
31 hepatocellular carcinoma HP:0001402
32 alopecia HP:0001596
33 onycholysis HP:0001806
34 facial hypertrichosis HP:0002219
35 hyperpigmentation in sun-exposed areas HP:0005586
36 scleroderma HP:0100324

Drugs & Therapeutics for Porphyria Cutanea Tarda

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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-RT40:

Genetic Tests for Porphyria Cutanea Tarda

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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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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

32
Skin, Liver, Eye, Testes, Bone marrow, Bone, Whole blood, Breast, Myeloid

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

36
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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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 545)
idTitleAuthorsYear
1
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
2
Porphyria cutanea tarda and spherocytosis: a non-random association? (23093332)
2013
3
Dermacase. Can you identify this condition? Porphyria cutanea tarda. (23851543)
2013
4
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
5
Hepatitis C, porphyria cutanea tarda and liver iron: an update. (22510500)
2012
6
Porphyria cutanea tarda: treatment options revisited. (22982098)
2012
7
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
8
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
9
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
10
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
11
Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. (18477147)
2008
12
Effect of iron and ascorbate on uroporphyria in ascorbate-requiring mice as a model for porphyria cutanea tarda. (17187429)
2007
13
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
14
Porphyria cutanea tarda in a patient with HIV-infection. (15861867)
2005
15
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
16
No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. (15202857)
2004
17
Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. (12737448)
2003
18
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
19
Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda. (12540785)
2003
20
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
21
Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. (11831056)
2002
22
Hepatitis C virus and GBV-C/hepatitis G virus in Argentine patients with porphyria cutanea tarda. (11509882)
2001
23
The HFE gene S65C polymorphism is rare among Bulgarian porphyria cutanea tarda patients. (11322214)
2001
24
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
25
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
26
Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?]. (11037612)
2000
27
Porphyria cutanea tarda. Don't forget to look at the urine. (10223097)
1999
28
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
29
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. (9918132)
1998
30
Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]. (9674292)
1998
31
Porphyria cutanea tarda associated with human immunodeficiency virus infection. (9854161)
1998
32
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
33
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
34
Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. (8773911)
1996
35
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
36
Conjugal porphyria cutanea tarda. (7826090)
1995
37
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
38
Porphyria cutanea tarda in the setting of renal failure. Response to renal transplantation. (8095384)
1993
39
HCV infection in porphyria cutanea tarda. (7685054)
1993
40
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
41
Chronic scarring dermatoses: remember porphyria cutanea tarda. (1604737)
1992
42
High-dose hydroxychloroquine treatment of porphyria cutanea tarda. (1597548)
1992
43
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
44
Porphyria cutanea tarda and HIV infection. (2252569)
1990
45
Porphyria cutanea tarda and acquired immunodeficiency syndrome: case reports and literature review. (2256699)
1990
46
Porphyria cutanea tarda and scleroderma--chance association or related disease: a case report. (2208778)
1990
47
Acute scleritis in porphyria cutanea tarda. (2330942)
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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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:

6
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 variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Porphyria Cutanea Tarda

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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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Pathways related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
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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Compounds related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i44 1111.2UROD, ALAD
2uroporphyrin i4410.2UROD, ALAD
3griseofulvin44 1111.0FECH, CYP1A2
4pyrrole449.9UROD, FECH
5uroporphyrin449.9UROD, ALAD, HFE
6tcdd449.8UROD, CYP1A2
7aluminium citrate449.8TF, TFRC
8ethylenediaminetetraacetic acid449.8ALAD, FECH
9gallium449.8TF, TFRC
10deferiprone449.8TF, TFRC
11aluminium44 1110.7TFRC, TF
12bismuth44 2410.7TF, TFRC
13apotransferrin449.7TF, TFRC
14hydroxymethylbilane44 2410.7PPOX, FECH, UROD
15uroporphyrinogen-iii449.7PPOX, FECH, UROD
16antipyrine44 1110.7CYP1A2, TF
17ferric ammonium citrate449.7TF, TFRC
18phenobarbital44 28 50 1112.6TF, CYP1A2, UROD
19ppix449.5PPOX, TFRC, FECH
20tbps44 2810.5TF, TFRC
21lead449.5HFE, ALAD, FECH
22iron dextran44 1110.5TF, TFRC, UROD
23nh4cl449.5TFRC, TF
24histidine449.4FECH, UROD, HFE
25dmso449.4TFRC, FECH, UROD
26haem449.4PPOX, FECH, UROD, HFE
27s-nitroso-n-acetylpenicillamine449.4TFRC, FECH
28succinylacetone449.4ALAD, TFRC, TF
29vitamin b12449.3ALAD, TFRC, TF
30protoporphyrinogen449.3ALAD, UROD, FECH, PPOX
31formyl-coa44 2410.3PPOX, FECH, UROD, ALAD
32fe3+449.3FECH, TFRC, TF
33deferoxamine44 1110.3FECH, TFRC, TF
34testosterone44 61 24 1112.2TFRC, CYP1A2, ALAD, HFE
35bafilomycin a144 61 1111.1TFRC, TF
36ascorbic acid44 2410.1HFE, ALAD, TFRC, TF
37porphyrin449.0PPOX, FECH, UROD, ALAD, HFE
38ethanol44 50 24 1112.0HAMP, CYP1A2, UROD, ALAD, HFE
39copper44 2410.0TF, FECH, ALAD, HFE
40fe2+449.0TF, TFRC, FECH, HFE
41zinc protoporphyrin448.9ALAD, FECH, TFRC, TF
42porphobilinogen44 24 1110.9PPOX, TFRC, FECH, UROD, ALAD
43estrogen448.8TF, TFRC, CYP1A2, UROD, HFE
44oxygen44 249.7UROD, FECH, CYP1A2, PPOX, HAMP
45creatinine448.7HAMP, TF, TFRC, ALAD
465-aminolevulinic acid44 249.6PPOX, TFRC, FECH, UROD, ALAD, HFE
47alanine448.6HFE, FECH, TFRC, TF
48protoporphyrin ix44 24 1110.3PPOX, TF, TFRC, FECH, UROD, ALAD
49heme28 24 1110.1PPOX, TF, CYP1A2, FECH, UROD, ALAD
50iron44 247.6HFE, HAMP, PPOX, HFE2, ALAD, UROD

GO Terms for genes affiliated with Porphyria Cutanea Tarda

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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:0451789.6TF, HFE
3recycling endosomeGO:0550379.6HFE, TF
4coated pitGO:0059059.3TFRC, TF
5cell surfaceGO:0099868.3TF, TFRC, HFE2

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
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Sources for Porphyria Cutanea Tarda

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet