HEP
MCID: PRP003
MIFTS: 68

Porphyria Cutanea Tarda (HEP) malady

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

Summaries for Porphyria Cutanea Tarda

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 hepatitis c and hemochromatosis, and has symptoms including autosomal dominant inheritance, autosomal dominant inheritance and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. 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 bone marrow, and related mouse phenotypes are liver/biliary system and immune system.

Wikipedia:64 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

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Metabolic, Eye, Nephrological, Skin, Liver


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 64 43 22 47 10 45 49 61
uroporphyrinogen decarboxylase deficiency 64 61
hepatoerythropoietic porphyria 49 61
pct 64 49
porphyria, hepatic 43
porphyria hepatic 45
urod deficiency 64
familial pct 64
hep 49


External Ids:

Disease Ontology8 DOID:3132
NCIt40 C27725
MeSH35 D017119
MESH via Orphanet36 D017121, D017119
SNOMED-CT57 61860000
ICD10 via Orphanet26 E80.2, E80.1
SNOMED-CT via Orphanet58 111386004, 61860000
UMLS via Orphanet62 C0162569, C0268324, C0162566
ICD1025 E80.1

Related Diseases for Porphyria Cutanea Tarda

Sources:
17GeneCards, 18GeneDecks
See all sources

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 138)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis c31.9TFR2, HFE, SLC17A5, TF, CYP1A2
2hemochromatosis31.6SLC40A1, TFR2, TFRC, HFE, HFE2, TF
3hepatoerythropoietic porphyria31.3UROS, UROD
4cutaneous porphyria31.2UROD, UROS
5acute porphyria31.1PPOX, HMBS, UROD, FECH, CPOX, ALAD
6viral hepatitis31.0SEPSECS, UROD, HFE, SLC17A5
7erythropoietic protoporphyria31.0CPOX, FECH, PPOX
8variegate porphyria30.9HFE, HLA-H
9acute intermittent porphyria30.9UROD, FECH, PPOX, CPOX, HMBS, ALAD
10siderosis30.9TF, UROD, SLC40A1, TFRC, HFE, FTH1
11hepatitis b30.9SLC17A5, HFE, CYP1A2, TFRC
12hereditary coproporphyria30.8HMBS, FECH, ALAD, CPOX, PPOX
13beta thalassemia30.7TFRC, TF, HFE
14thalassemia30.7TF, TFRC, FTH1, HFE, HAMP
15arthritis30.7HFE, TFR2, FTH1, HPX
16congenital porphyria30.7HMBS, UROD, UROS, ALAD, CPOX, FECH
17hemosiderosis30.5HFE, TF, FTH1
18insulin resistance30.5HFE, SLC17A5, CYP1A2
19hepatitis c virus11.2
20hepatitis a11.1
21hepatitis d10.9
22hepatitis e10.8
23systemic lupus erythematosus10.7
24cutaneous lupus erythematosus10.6
25acquired immunodeficiency syndrome10.6
26porphyria cutanea tarda, type ii10.6
27subacute cutaneous lupus erythematosus10.6
28chronic hepatic porphyria10.6
29alopecia10.6
30discoid lupus erythematosus10.6
31refractory anemia10.6
32lichen planus10.5
33vitiligo10.5
34constrictive pericarditis10.5
35squamous cell carcinoma10.5
36acute liver failure10.3
37lymphoid leukemia10.3
38bullous pemphigoid10.3
39membranous glomerulonephritis10.3
40membranoproliferative glomerulonephritis10.3
41conjunctiva squamous cell carcinoma10.3
42epidermolysis bullosa acquisita10.3
43cicatricial ectropion10.3
44alopecia universalis10.3
45cicatricial pemphigoid10.3
46congenital adrenal hyperplasia10.3
47melioidosis10.3
48alpha thalassemia10.3
49lepromatous leprosy10.3
50autoimmune hemolytic anemia10.3

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



Diseases related to porphyria cutanea tarda

Clinical Features for Porphyria Cutanea Tarda

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

176100,176090

Clinical synopsis from OMIM:

176090

Symptoms:

49 (show all 19)
  • 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
  • thin skin
  • irregular/patchy skin hypopigmentation
  • cirrhosis
  • abnormal scarring/cheloids/hypertrophic scars
  • hemolytic anemia
  • acute palsy
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • liver/hepatic steatosis

Drugs & Therapeutics for Porphyria Cutanea Tarda

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Porphyria Cutanea Tarda

Sources:
22GTR
See all sources

Genetic tests related to Porphyria Cutanea Tarda:

id Genetic test Affiliating Genes
1 Porphyria Cutanea Tarda22

Anatomical Context for Porphyria Cutanea Tarda

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Porphyria Cutanea Tarda:

33
Skin, Liver, Bone marrow, Whole blood, Breast, Myeloid, T cells, B lymphoblasts, B cells

Animal Models for Porphyria Cutanea Tarda or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0HPX, SLC40A1, CYP1A2, FTH1, HFE2, HFE
2MP:00053878.9FECH, HAMP, UROS, TFR2, TFRC, HFE
3MP:00053978.6FECH, HAMP, UROS, TF, TFR2, TFRC
4MP:00053768.3FTH1, CYP1A2, HPX, HMBS, SLC40A1, SLC17A5
5MP:00107688.1UROS, UROD, TF, TFRC, HFE, HFE2

Publications for Porphyria Cutanea Tarda

Sources:
51PubMed
See all sources

Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 539)
idTitleAuthorsYear
1
Porphyria cutanea tarda in a hemodialysis patient with hepatitis C virus: efficacy of treatment with multiple phlebotomies and erythropoietin. (23354206)
2013
2
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda. (24081184)
2013
3
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. (23545314)
2013
4
Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. (22985607)
2012
5
Porphyria cutanea tarda and systemic lupus erythematosus. (21437551)
2011
6
Education and imaging. Hepatobiliary and pancreatic: Multinodular fatty liver associated with porphyria cutanea tarda. (21175820)
2011
7
Images in clinical medicine: Porphyria cutanea tarda. (21992125)
2011
8
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
9
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. (21079081)
2010
10
Liver cirrhosis induced by porphyria cutanea tarda: a case report and review. (21253308)
2010
11
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. (19001803)
2009
12
Porphyria cutanea tarda: a possible role for ascorbic acid. (17187403)
2007
13
Coexistence of a systemic lupus erythematosus and porphyria cutanea tarda: case successfully improved by avoidance of sun exposure. (16650173)
2006
14
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
15
Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda. (15046048)
2004
16
TNFalpha promoter polymorphisms in Italian patients with porphyria cutanea tarda. (14567466)
2003
17
Hepatitis C virus and GBV-C/hepatitis G virus in Argentine patients with porphyria cutanea tarda. (11509882)
2001
18
Porphyria cutanea tarda associated with an acute gastrointestinal bleed: the roles of supplemental iron and blood transfusion. (11534916)
2001
19
A case of porphyria cutanea tarda in association with idiopathic myelofibrosis and CREST syndrome. (11167703)
2001
20
Ineffective interferon treatment of chronic hepatitis C-associated porphyria cutanea tarda, but with a transient decrease in HCV RNA levels. (10632544)
2000
21
Alcohol intake and porphyria cutanea tarda. (10497728)
1999
22
Hepatic multi-nodular focal fatty metamorphosis in acquired porphyria cutanea tarda. Sonographic, CT, and MRI features. (9876911)
1998
23
Porphyria cutanea tarda and HIV: two cases associated with hepatitis C. (11361969)
1998
24
Cytoplasmic liver cell inclusions--a typical feature of porphyria cutanea tarda--are absent in porphyria-related hepatic neoplasias. (9687891)
1998
25
Chronic myelogenous leukemia and porphyria cutanea tarda in a patient with limited systemic sclerosis. (9598864)
1998
26
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. (9427577)
1998
27
Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. (8773911)
1996
28
Hepatitis C virus infection: a possible promoting agent in porphyria cutanea tarda. (9131391)
1996
29
Porphyria cutanea tarda preceding AIDS. (8544558)
1996
30
Normalization of urinary porphyrin level and disappearance of skin lesions after successful interferon therapy in a case of chronic hepatitis C complicated with porphyria cutanea tarda. (7540638)
1995
31
Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload. (7918235)
1994
32
Porphyria cutanea tarda and hepatitis C virus infection in a patient with acute liver failure. (7810135)
1994
33
Salivary porphyrin concentration in porphyria cutanea tarda. (7903863)
1993
34
Unusual presentation of porphyria cutanea tarda. (8101292)
1993
35
High-dose hydroxychloroquine treatment of porphyria cutanea tarda. (1597548)
1992
36
Peritoneal dialysis does not reduce serum porphyrin levels in porphyria cutanea tarda. (1553013)
1992
37
Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population. (1358034)
1992
38
Porphyria cutanea tarda associated with autoimmune hypothyroidism, vitiligo and alopecia universalis. (1803247)
1991
39
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
40
Porphyria cutanea tarda after allogeneic bone marrow transplantation for chronic myelogenous leukemia. (2327408)
1990
41
Essential fatty acid deficiency mimicking porphyria cutanea tarda in a patient with chronic cholestasis. (2303977)
1990
42
More about mast cells and fibrosis in porphyria cutanea tarda. (2347561)
1990
43
Defective human erythrocyte uroporphyrinogen decarboxylase in familial porphyria cutanea tarda: the metabolic lesion or the result of endogenous porphyrinemia? (3395340)
1988
44
Porphyria cutanea tarda and HLA-linked hemochromatosis--all in the family? (3569779)
1987
45
Porphyria cutanea tarda mimicking systemic scleroderma. (6590053)
1984
46
The enzymatic defects in porphyria cutanea tarda and variegate porphyria. (6962633)
1982
47
Coexistent variegate porphyria and porphyria cutanea tarda. (7078623)
1982
48
Photosensitivity in erythropoietic protoporphyria and porphyria cutanea tarda. (7219493)
1981
49
Porphyria cutanea tarda in association with hemosiderosis of the liver. Iron absorption studies and evaluation of therapy by phlebotomy. (5677557)
1968
50
Biochemical features of cutaneous porphyria and porphyria cutanea tarda. (13584275)
1958

Genetic Variations for Porphyria Cutanea Tarda

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Porphyria Cutanea Tarda:

63 (show all 38)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Porphyria Cutanea Tarda

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

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

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
1coproporphyrin i45 1111.6ALAD, UROD
2Coproporphyrin Iii11 2411.6CPOX, UROD
3aluminium citrate4510.5TF, TFRC
4porphyrinogen4510.5UROD, CPOX
5uroporphyrinogen i45 2411.5UROS, UROD
6gallium4510.5TFRC, TF
7deferiprone4510.5TF, TFRC
8succinylacetone4510.5ALAD, TFRC, TF
9ferrous ammonium sulfate4510.5TF, FTH1
10pyrrole4510.4CPOX, UROD, FECH
11antipyrine45 1111.4SLC17A5, CYP1A2, TF
12aclacinomycin4510.4TFRC, HMBS
13ppix4510.4PPOX, HMBS, TFRC, FECH
14iron dextran45 1111.3TFRC, UROD, TF, FTH1
15uroporphyrin i4510.3HMBS, UROS, ALAD, UROD
16vitamin b124510.3ALAD, TF, TFRC, SLC17A5
17apotransferrin4510.2FTH1, TFRC, TF, HPX
18zinc protoporphyrin4510.2ALAD, FECH, SLC17A5, TFRC, TF
19hydroxymethylbilane45 2411.2PPOX, HMBS, FECH, UROD, UROS
20dmso4510.2FECH, UROD, SLC17A5, TFRC
21halothane45 29 1112.2FTH1, SEPSECS, SLC17A5
22phenobarbital45 29 1112.2SLC17A5, TF, CYP1A2, HMBS, UROD
23lead4510.2HMBS, ALAD, CPOX, HFE, FECH
24protoporphyrinogen4510.1FECH, UROD, PPOX, HMBS, ALAD, CPOX
25copper45 2411.1FECH, CPOX, ALAD, SLC40A1, FTH1
26aluminium45 1111.1TFRC, TF
27fe3+4510.1FECH, HPX, FTH1, TFRC, TF
28uroporphyrin4510.1UROS, HMBS, ALAD, CPOX, HFE, UROD
29uroporphyrinogen-iii4510.1UROD, PPOX, HMBS, CPOX, FECH, UROS
30fe2+4510.1TF, SLC40A1, HFE, TFRC, FECH, FTH1
31deferoxamine45 1111.0SLC40A1, FECH, TFRC, FTH1, TF, TFR2
32vitamin a45 11 2412.0TFRC, HPX, SLC17A5, TF
33histidine4510.0FECH, UROD, HFE, FTH1, HPX, HMBS
34formyl-coa45 2411.0PPOX, FECH, UROS, UROD, HMBS, ALAD
35haem4510.0CPOX, UROD, FECH, PPOX, HFE, HPX
36griseofulvin45 1110.9FECH, CYP1A2
37lactate459.9TFRC, CPOX, ALAD, SLC17A5, TF
38ascorbic acid45 2410.8HPX, TF, TFRC, HFE, FTH1, ALAD
39ethanol45 50 11 2412.8ALAD, HFE, CYP1A2, HMBS, HAMP, SLC17A5
40porphobilinogen45 11 2411.8CPOX, ALAD, HMBS, TFRC, FECH, UROD
41zinc45 2410.8HPX, FTH1, ALAD, SLC40A1, FECH, HFE
42superoxide45 2410.8HPX, FECH, CPOX, ALAD, SLC17A5
435-aminolevulinic acid45 2410.7FECH, CPOX, ALAD, HMBS, HFE, TFRC
44protoporphyrin ix45 11 2411.7FECH, UROD, PPOX, TF, TFRC, HPX
45alanine459.7CPOX, SLC17A5, HFE, TFRC, TF, FECH
46porphyrin459.6UROS, FECH, UROD, PPOX, HFE, HPX
47nitric oxide45 11 2411.6CPOX, ALAD, SLC17A5, HMBS, CYP1A2, FECH
48oxygen45 2410.6HAMP, UROD, PPOX, FTH1, CYP1A2, HPX
49heme29 11 2411.4CPOX, ALAD, FECH, UROS, UROD, PPOX
50iron45 249.5HMBS, HPX, FTH1, HFE2, HFE, TFRC

GO Terms for genes affiliated with Porphyria Cutanea Tarda

Sources:
16Gene Ontology
See all sources

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

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal iron ion homeostasisGO:06058610.2HFE, SLC40A1
2immune responseGO:0069559.9HAMP, HLA-H, FTH1, HFE
3iron ion transportGO:0068269.9TFR2, FTH1
4protoporphyrinogen IX biosynthetic processGO:0067829.8UROS, CPOX, ALAD, HMBS, PPOX, UROD
5heme biosynthetic processGO:0067839.7HMBS, PPOX, UROD, UROS, FECH, ALAD
6transmembrane transportGO:0550859.6SLC40A1, FTH1, TFRC, TF, SLC17A5
7porphyrin-containing compound metabolic processGO:0067789.5CPOX, ALAD, HMBS, CYP1A2, PPOX, UROD
8cellular iron ion homeostasisGO:0068799.5HAMP, SLC40A1, HPX, FTH1, HFE, TFRC
9small molecule metabolic processGO:0442819.5FECH, HMBS, ALAD, CPOX, PPOX, UROD

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porphyria Cutanea Tarda

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet