HEP
MCID: PRP003
MIFTS: 81

Porphyria Cutanea Tarda (HEP) malady

Metabolic diseases, Eye diseases, Nephrological diseases, Skin diseases, Liver diseases, Genetic diseases categories

Summaries for Porphyria Cutanea Tarda

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Porphyria Cutanea Tarda, also known as uroporphyrinogen decarboxylase deficiency, is related to porphyria and hepatitis, and has symptoms including liver/hepatic steatosis, hepatic/liver neoplasm/tumor/carcinoma/cancer and acute palsy. An important gene associated with Porphyria Cutanea Tarda is UROD (uroporphyrinogen decarboxylase), and among its related pathways are HIF-1-alpha transcription factor network and Glucuronidation. The drugs hydroxychloroquine and hydroxychloroquine sulfate and the compounds coproporphyrin i and Coproporphyrin Iii 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:63 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...

Description from OMIM:46 176100,176090

Aliases & Classifications for Porphyria Cutanea Tarda

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8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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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


Aliases & Descriptions:

porphyria cutanea tarda 8 9 63 42 22 46 10 44 48 60
uroporphyrinogen decarboxylase deficiency 63 60
hepatoerythropoietic porphyria 48 60
pct 63 48
porphyria, hepatic 42
porphyria hepatic 44
urod deficiency 63
familial pct 63
hep 48


External Ids:

Disease Ontology8 DOID:3132
NCIt39 C27725
MeSH34 D017119
MESH via Orphanet35 D017121, D017119
SNOMED-CT56 61860000
ICD10 via Orphanet26 E80.2, E80.1
SNOMED-CT via Orphanet57 111386004, 61860000
UMLS via Orphanet61 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 154)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria32.4CPOX, ALAD, HMBS, HFE, TF, PPOX
2hepatitis31.9TFR2, HFE, CYP1A2, SLC17A5, SEPSECS, TF
3hepatitis c31.8TF, TFR2, HFE, CYP1A2, SLC17A5
4hemochromatosis31.6HFE2, HFE, HLA-H, TFRC, TFR2, TF
5hepatoerythropoietic porphyria31.2UROD, UROS
6cutaneous porphyria31.1UROD, UROS
7leukemia31.1TFRC, HFE, CYP1A2, HMBS
8acute porphyria31.1CPOX, ALAD, HMBS, PPOX, UROD, FECH
9viral hepatitis31.0SEPSECS, SLC17A5, HFE, UROD
10erythropoietic protoporphyria30.9CPOX, PPOX, FECH
11variegate porphyria30.9HFE, HLA-H
12diabetes mellitus30.9FTH1, HFE, TF
13hepatocellular carcinoma30.9UROD, TF, HFE, CYP1A2, SLC17A5
14acute intermittent porphyria30.9CPOX, ALAD, HMBS, PPOX, UROD, FECH
15siderosis30.9UROD, TF, TFRC, HFE, FTH1, SLC40A1
16hypertrichosis30.8UROD, UROS
17hereditary coproporphyria30.8FECH, PPOX, HMBS, ALAD, CPOX
18hepatitis b30.8SLC17A5, CYP1A2, HFE, TFRC
19beta thalassemia30.6TF, TFRC, HFE
20arthritis30.6TFR2, HFE, FTH1, HPX
21myeloid leukemia30.4TFRC
22hemosiderosis30.4TF, HFE, FTH1
23rheumatoid arthritis30.4HPX, HFE, TFRC
24autoimmune hepatitis30.4CYP1A2, SLC17A5, SEPSECS
25alpha thalassemia30.4FTH1, HFE, TFRC, TF, HAMP
26hemolytic anemia30.4TF, TFRC, HFE, HPX, CPOX
27breast cancer30.4CPOX, HMBS, CYP1A2, FTH1
28liver cirrhosis30.4TF, TFR2, HFE, CYP1A2, SLC17A5
29hepatitis a11.0
30lupus erythematosus10.9
31systemic lupus erythematosus10.7
32liver disease10.6
33scleroderma10.6
34porphyria cutanea tarda, type ii10.6
35cutaneous lupus erythematosus10.6
36acquired immunodeficiency syndrome10.6
37alopecia10.5
38peritonitis10.5
39hepatoblastoma10.5
40lichen planus10.4
41alcoholic hepatitis10.4
42vitiligo10.4
43constrictive pericarditis10.4
44cholestasis10.4
45epidermolysis bullosa10.4
46myelofibrosis10.4
47pericarditis10.4
48squamous cell carcinoma10.4
49thalassemia10.4
50acute liver failure10.3

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



Diseases related to porphyria cutanea tarda

Clinical Features for Porphyria Cutanea Tarda

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46OMIM, 48Orphanet
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Clinical features from OMIM:

176100,176090

Clinical synopsis from OMIM:

176090

Symptoms:

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

Drugs & Therapeutics for Porphyria Cutanea Tarda

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Porphyria Cutanea Tarda

Drug clinical trials:

Search ClinicalTrials for Porphyria Cutanea Tarda

Search NIH Clinical Center for Porphyria Cutanea Tarda

Search CenterWatch for Porphyria Cutanea Tarda

Inferred drug relations via UMLS60/NDF-RT40:

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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32MalaCards
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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

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

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0SLC40A1, FECH, UROS, UROD, TFR2, TFRC
2MP:00053878.9HAMP, UROS, TFR2, TFRC, HFE, HFE2
3MP:00053978.6FECH, HAMP, UROS, TF, TFR2, TFRC
4MP:00053768.3TFR2, TF, UROD, UROS, HAMP, FECH
5MP:00107688.1TFRC, TF, UROD, UROS, HAMP, FECH

Publications for Porphyria Cutanea Tarda

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50PubMed
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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. (23894244)
2013
2
Risk factors for porphyria cutanea tarda -the iron/HFE connection. (23121614)
2013
3
Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1. (23012398)
2013
4
The association between porphyria cutanea tarda and diabetes mellitus: analysis of a long-term follow-up cohort. (21564073)
2011
5
Porphyria cutanea tarda in a chronic hemodialysis patient. (20814132)
2010
6
Porphyria cutanea tarda presenting as scleroderma. (20486461)
2010
7
Re-evaluation of the diagnosis of porphyria cutanea tarda in Admiral Sir Francis Beaufort. (21103105)
2010
8
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. (19419417)
2009
9
Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. (18477147)
2008
10
Measurement of liver iron content by magnetic resonance imaging in 20 patients with overt porphyria cutanea tarda before phlebotomy therapy: a prospective study. (18709302)
2008
11
Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature. (18720935)
2008
12
Effect of iron and ascorbate on uroporphyria in ascorbate-requiring mice as a model for porphyria cutanea tarda. (17187429)
2007
13
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. (17360334)
2007
14
Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. (15201583)
2004
15
Porphyria cutanea tarda and scleroderma. (17043534)
2004
16
Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. (12737448)
2003
17
Prevalence of hepatitis C virus infection in porphyria cutanea tarda. (12971977)
2003
18
Precipitation of porphyria cutanea tarda by imatinib mesylate? (12694262)
2003
19
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
20
Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. (12699243)
2002
21
Levels of uroporphyrinogen decarboxylase (URO-D) in erythrocytes of Italian porphyria cutanea tarda patients. (11929044)
2002
22
Liver cancer risk is increased in patients with porphyria cutanea tarda in comparison to matched control patients with chronic liver disease. (11682034)
2001
23
A mouse model of familial porphyria cutanea tarda. (11134514)
2001
24
Development of porphyria cutanea tarda in a hemodialysis patient after reactivation of hepatitis C virus infection. (11399922)
2001
25
Porphyria cutanea tarda precipitated by intravenous iron in a haemodialysis patient. (11522884)
2001
26
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
27
Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake. (11215304)
2000
28
Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. (11151887)
2000
29
Overt and hidden coinfection with hepatitis B and C viruses in chronic liver disease and porphyria cutanea tarda. (10989688)
2000
30
Porphyria cutanea tarda. (11109347)
2000
31
Hypertrichosis due to porphyria cutanea tarda associated with blastic transformation of myelofibrosis. (10583184)
1999
32
Porphyria cutanea tarda occurring in a patient with renal failure, systemic lupus erythematosus and chronic hepatitis C infection treated with hemodialysis. (10544877)
1999
33
Highly active antiretroviral therapy leading to resolution of porphyria cutanea tarda in a patient with AIDS and hepatitis C. (10235615)
1999
34
Clinical spectrum of porphyria cutanea tarda. (10189396)
1999
35
Porphyria cutanea tarda associated with human immunodeficiency virus infection. (9854161)
1998
36
Management of patients with porphyria cutanea tarda. (9638726)
1998
37
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. (9792863)
1998
38
Iron and porphyria cutanea tarda. (9074791)
1997
39
Ultrastructural differentiation of epidermolysis bullosa subtypes and porphyria cutanea tarda. (9198106)
1997
40
Hypertrichosis as the presenting feature of porphyria cutanea tarda. (7671402)
1995
41
Porphyria cutanea tarda in hepatitis C virus-infected blood donors. (7868725)
1995
42
Hepatic manifestations of porphyria cutanea tarda in a patient with AIDS. (7717332)
1995
43
Porphyria cutanea tarda induced by HMG CoA reductase inhibitors: simvastatin, pravastatin]. (7631993)
1994
44
Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association. (1359994)
1992
45
Childhood-onset familial porphyria cutanea tarda: effects of therapeutic phlebotomy. (1361499)
1992
46
Erythema elevatum diutinum mimicking porphyria cutanea tarda. (1993150)
1991
47
Iron metabolism and chloroquine phosphate therapy in porphyria cutanea tarda]. (2080653)
1990
48
Porphyria cutanea tarda associated with HIV infection: are those conditions pathogenetically related or merely coincidental? (2252570)
1990
49
Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association. (3569756)
1987
50
Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. (4785438)
1973

Genetic Variations for Porphyria Cutanea Tarda

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Porphyria Cutanea Tarda:

62 (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

Expression for genes affiliated with Porphyria Cutanea Tarda

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1BioGPS, 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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37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Porphyria Cutanea Tarda

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Porphyria Cutanea Tarda according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i44 1111.6ALAD, UROD
2Coproporphyrin Iii11 2411.6CPOX, UROD
3aluminium citrate4410.5TF, TFRC
4porphyrinogen4410.5UROD, CPOX
5uroporphyrinogen i44 2411.5UROS, UROD
6gallium4410.5TFRC, TF
7deferiprone4410.5TF, TFRC
8succinylacetone4410.5ALAD, TFRC, TF
9ferrous ammonium sulfate4410.5TF, FTH1
10pyrrole4410.4CPOX, UROD, FECH
11antipyrine44 1111.4SLC17A5, CYP1A2, TF
12aclacinomycin4410.4TFRC, HMBS
13ppix4410.4PPOX, HMBS, TFRC, FECH
14iron dextran44 1111.3TFRC, UROD, TF, FTH1
15uroporphyrin i4410.3HMBS, UROS, ALAD, UROD
16vitamin b124410.3ALAD, TF, TFRC, SLC17A5
17apotransferrin4410.2FTH1, TFRC, TF, HPX
18zinc protoporphyrin4410.2ALAD, FECH, SLC17A5, TFRC, TF
19hydroxymethylbilane44 2411.2PPOX, HMBS, FECH, UROD, UROS
20dmso4410.2FECH, UROD, SLC17A5, TFRC
21halothane44 28 1112.2FTH1, SEPSECS, SLC17A5
22phenobarbital44 28 1112.2SLC17A5, TF, CYP1A2, HMBS, UROD
23lead4410.2HMBS, ALAD, CPOX, HFE, FECH
24protoporphyrinogen4410.1FECH, UROD, PPOX, HMBS, ALAD, CPOX
25copper44 2411.1FECH, CPOX, ALAD, SLC40A1, FTH1
26aluminium44 1111.1TFRC, TF
27fe3+4410.1FECH, HPX, FTH1, TFRC, TF
28uroporphyrin4410.1UROS, HMBS, ALAD, CPOX, HFE, UROD
29uroporphyrinogen-iii4410.1UROD, PPOX, HMBS, CPOX, FECH, UROS
30fe2+4410.1TF, SLC40A1, HFE, TFRC, FECH, FTH1
31deferoxamine44 1111.0SLC40A1, FECH, TFRC, FTH1, TF, TFR2
32vitamin a44 11 2412.0TFRC, HPX, SLC17A5, TF
33histidine4410.0FECH, UROD, HFE, FTH1, HPX, HMBS
34formyl-coa44 2411.0PPOX, FECH, UROS, UROD, HMBS, ALAD
35haem4410.0CPOX, UROD, FECH, PPOX, HFE, HPX
36griseofulvin44 1110.9FECH, CYP1A2
37lactate449.9TFRC, CPOX, ALAD, SLC17A5, TF
38ascorbic acid44 2410.8HPX, TF, TFRC, HFE, FTH1, ALAD
39ethanol44 49 11 2412.8ALAD, HFE, CYP1A2, HMBS, HAMP, SLC17A5
40porphobilinogen44 11 2411.8CPOX, ALAD, HMBS, TFRC, FECH, UROD
41zinc44 2410.8HPX, FTH1, ALAD, SLC40A1, FECH, HFE
42superoxide44 2410.8HPX, FECH, CPOX, ALAD, SLC17A5
435-aminolevulinic acid44 2410.7FECH, CPOX, ALAD, HMBS, HFE, TFRC
44protoporphyrin ix44 11 2411.7FECH, UROD, PPOX, TF, TFRC, HPX
45alanine449.7CPOX, SLC17A5, HFE, TFRC, TF, FECH
46porphyrin449.6UROS, FECH, UROD, PPOX, HFE, HPX
47nitric oxide44 11 2411.6CPOX, ALAD, SLC17A5, HMBS, CYP1A2, FECH
48oxygen44 2410.6HAMP, UROD, PPOX, FTH1, CYP1A2, HPX
49heme28 11 2411.4CPOX, ALAD, FECH, UROS, UROD, PPOX
50iron44 249.5HMBS, HPX, FTH1, HFE2, HFE, TFRC

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
1basal part of cellGO:04517810.1HFE, TF
2MHC class I protein complexGO:04261210.0HFE, HLA-H
3integral to plasma membraneGO:0058879.7TFRC, HLA-H, HFE, SLC40A1, SLC17A5, TFR2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal iron ion homeostasisGO:06058610.2SLC40A1, HFE
2immune responseGO:0069559.9FTH1, HFE, HLA-H, HAMP
3iron ion transportGO:0068269.9FTH1, TFR2
4protoporphyrinogen IX biosynthetic processGO:0067829.8UROS, CPOX, ALAD, HMBS, PPOX, UROD
5heme biosynthetic processGO:0067839.7CPOX, ALAD, HMBS, PPOX, UROD, UROS
6transmembrane transportGO:0550859.6TF, TFRC, FTH1, SLC40A1, SLC17A5
7porphyrin-containing compound metabolic processGO:0067789.5CPOX, ALAD, HMBS, CYP1A2, PPOX, UROD
8small molecule metabolic processGO:0442819.5FECH, UROS, UROD, PPOX, CYP1A2, HMBS
9cellular iron ion homeostasisGO:0068799.4HAMP, TF, TFR2, TFRC, HFE, FTH1

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

idNameGO IDScoreTop Affiliating Genes
1ferric iron bindingGO:00819910.2FTH1, TF
2transferrin receptor activityGO:0049989.9TFRC, TFR2

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet