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 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 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)
  • 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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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, Bone marrow, Myeloid, Bone, 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
Is non-alcoholic steatohepatitis a predisposing factor to porphyria cutanea tarda? (23458397)
2013
2
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. (20957336)
2011
3
Porphyria cutanea tarda. (19622066)
2010
4
Associations among behavior-related susceptibility factors in porphyria cutanea tarda. (19948245)
2010
5
Sclerodermatous changes of face, neck and scalp associated with familial porphyria cutanea tarda. (18498414)
2008
6
Cutaneous vascular deposition of C5b-9 and its role as a diagnostic adjunct in the setting of diabetes mellitus and porphyria cutanea tarda. (17190626)
2007
7
Porphyria cutanea tarda: effects and risk factors for hepatotoxicity from high-dose chloroquine treatment. (17721646)
2007
8
A case of porphyria cutanea tarda resulting in digital amputation and improved by anastrazole. (17397360)
2007
9
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. (17627795)
2007
10
Hemorheological status and redox homeostasis of phlebotomised porphyria cutanea tarda patients with diabetes mellitus and in moderate alcohol consumer. (16899961)
2006
11
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area. (15788010)
2005
12
No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. (15202857)
2004
13
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
14
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. (12735639)
2003
15
Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. (11831056)
2002
16
Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients. (12699242)
2002
17
Influence of hepatitis C virus (HCV) infection on porphyrin and iron metabolism in porphyria cutanea tarda (PCT) patients. (12211718)
2001
18
Atypical porphyria cutanea tarda in a patient with chronic myelogenous leukemia. (11549809)
2001
19
Treatment of porphyria cutanea tarda with phlebotomy in a patient on peritoneal dialysis. (11174409)
2001
20
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
21
Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: the influence of virus C infection. (9462661)
1998
22
The significance of histologic analysis of skin lesions in porphyria cutanea tarda. Light microscopy, electron microscopy, immunohistochemical and immunofluorescence analysis. (9816639)
1998
23
Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload. (9425949)
1998
24
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. (9024376)
1997
25
Porphyria cutanea tarda and hematologic malignancy--a report of 4 cases. (9453083)
1997
26
Porphyria cutanea tarda and hepatitis B and C virus infection]. (8952673)
1996
27
Caterpillar bodies of porphyria cutanea tarda ultrastructurally represent a unique arrangement of colloid and basement membrane bodies. (8721587)
1996
28
Porphyria cutanea tarda associated with carbamazepine treatment. (8610843)
1996
29
Porphyria cutanea tarda and hepatitis C viral infection. A clinical and virologic study. (7611796)
1995
30
Low prevalence of hepatitis C virus infection in porphyria cutanea tarda in Germany. (7539393)
1995
31
Sclerodermatous changes revealing porphyria cutanea tarda. (7976096)
1994
32
Primary syphilis with multiple chancres and porphyria cutanea tarda in an HIV-infected patient. (7907894)
1994
33
Hepatitis C in patients with porphyria cutanea tarda. (7962757)
1994
34
Treatment of porphyria cutanea tarda of end-stage renal disease with erythropoietin. (8102386)
1993
35
Is porphyria cutanea tarda a paraneoplastic disorder? (8101759)
1993
36
Hepatitis C virus-related autoimmunity in patients with porphyria cutanea tarda. (7511537)
1993
37
Porphyria cutanea tarda associated with acute non-lymphoblastic leukemia. (1609784)
1992
38
Systemic sclerosis and porphyria cutanea tarda. (2029212)
1991
39
A case of cutaneous squamous cell carcinoma associated with sporadic porphyria cutanea tarda due to liver disorder after Schistosoma japonicum infection. (1918600)
1991
40
Porphyria cutanea tarda and HIV infection. (2252569)
1990
41
Human immunodeficiency virus infection and porphyria cutanea tarda. (2913079)
1989
42
Otolaryngologic manifestations of porphyria cutanea tarda. (2508014)
1989
43
Porphyria cutanea tarda and human immunodeficiency virus: two new cases. (2602248)
1989
44
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. (2920211)
1989
45
Porphyria cutanea tarda resulting from primary hepatocellular carcinoma. (2850121)
1988
46
Development of porphyria cutanea tarda after treatment with cyclophosphamide. (3410226)
1988
47
Urinary excretion of D-glucaric acid in porphyria cutanea tarda. (2895161)
1987
48
Discoid lupus erythematosus. Coexistence with porphyria cutanea tarda. (4055201)
1985
49
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family. (6722030)
1984
50
Epidermolysis bullosa acquisita (tardive) and porphyria cutanea tarda: an analytic comparison of these two conditions. (13820497)
1959

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

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