MCID: PRP003
MIFTS: 63

Porphyria Cutanea Tarda malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Eye diseases, Nephrological diseases, Skin diseases, Liver diseases

Aliases & Classifications for Porphyria Cutanea Tarda

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 22GeneReviews, 23GeneTests, 68UniProtKB/Swiss-Prot, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 50 11 69 46 13 52 25 12 48 37 66
Hepatoerythropoietic Porphyria 11 69 22 46 23 13 52 68 25 66
Familial Porphyria Cutanea Tarda 52 68 66
Hep 46 52 68
Porphyria, Hepatoerythropoietic 50 37
Porphyria Cutanea Tarda Type Ii 52 68
Pct 69 52
 
Uroporphyrinogen Decarboxylase Deficiency 68
Porphyria Hepatocutaneous Type 68
Porphyria, Hepatic 46
Porphyria Hepatic 48
Urod Deficiency 68
Pct Type Ii 68
Fpct 68

Characteristics:

Orphanet epidemiological data:

52
familial porphyria cutanea tarda:
Inheritance: Autosomal dominant
hepatoerythropoietic porphyria:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)
porphyria cutanea tarda:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy

HPO:

62
porphyria cutanea tarda:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 176100
Disease Ontology11 DOID:3132, DOID:5230
ICD1028 E80.1
SNOMED-CT60 61860000, 111386004
ICD10 via Orphanet29 E80.1, E80.2
UMLS via Orphanet67 C0162569, C0268324, C0162566
MESH via Orphanet38 D017121, D017119

Summaries for Porphyria Cutanea Tarda

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UniProtKB/Swiss-Prot:68 Familial porphyria cutanea tarda: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Hepatoerythropoietic porphyria: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts.

MalaCards based summary: Porphyria Cutanea Tarda, also known as hepatoerythropoietic porphyria, is related to coproporphyria and porphyria variegata, and has symptoms including thin skin, cutaneous photosensitivity and hemolytic anemia. An important gene associated with Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways are Mineral absorption and Insulin receptor recycling. The drugs hydroxychloroquine and hydroxychloroquine sulfate 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 homeostasis/metabolism.

Disease Ontology:11 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.

NIH Rare Diseases:46 Hepatoerythropoietic porphyria (hep) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. it is the autosomal recessive form of familial porphyria cutanea tarda (f-pct). the manifestations of hep resemble congenital erythropoietic porphyria (cep), with symptoms of skin blistering that usually begin in infancy. treatment may include scheduled phlebotomy and low dose hydroxychloroquine. last updated: 10/26/2010

OMIM:50 Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of... (176100) more...

Wikipedia:69 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...

GeneReviews summary for NBK169003

Related Diseases for Porphyria Cutanea Tarda

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Diseases in the Porphyria Cutanea Tarda family:

Porphyria Cutanea Tarda, Type I Familial Porphyria Cutanea Tarda

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1coproporphyria29.0ALAD, CPOX, HMBS, PPOX, UROD, UROS
2porphyria variegata26.6ALAD, CPOX, HFE, HLA-H, HMBS, PPOX
3porphyria cutanea tarda, type i12.7
4familial porphyria cutanea tarda12.6
5porphyria11.8
6urod-related porphyrias11.2
7hepatitis11.0
8hepatitis c11.0
9hepatitis c virus10.9
10hemochromatosis10.8
11lupus erythematosus10.6
12dermatoosteolysis, kirghizian type10.6HFE, TF
13leukemia10.5
14hemophagocytic reticulosis10.5HAMP, HFE2
15porphyria, acute intermittent10.5
16diarrhea 1, secretory chloride, congenital10.5HFE, TFR2
17systemic lupus erythematosus10.5
18hemochromatosis, type 410.4SLC40A1, TFR2
19thbd-related atypical hemolytic-uremic syndrome10.4HAMP, HFE
20liver disease10.4
21malignant visceral pleura tumor10.4TF, TFRC
22hepatoblastoma10.4
23hepatocellular carcinoma10.3
24cutaneous lupus erythematosus10.3
25siderosis10.3
26viral hepatitis10.3
27acquired immunodeficiency syndrome10.3
28subacute cutaneous lupus erythematosus10.3
29hereditary multiple osteochondromas10.3HFE, HFE2, TFR2
30harp syndrome10.3HFE, TF
31alopecia10.3
32epidermolysis bullosa10.3
33hypertrichosis10.3
34peritonitis10.3
35discoid lupus erythematosus10.3
36typhus10.3HAMP, TF, TFRC
37tongue squamous cell carcinoma10.3HAMP, HFE, TF
38gastric small cell carcinoma10.3TF, TFRC
39alzheimer disease10.2HFE, HLA-H
40basilar artery insufficiency10.2HFE, TFRC
41myelodysplastic syndrome10.2
42arthritis10.2
43hepatitis b10.2
44myelofibrosis10.2
45thalassemia10.2
46lymphoma10.2
47lymphoblastic leukemia10.2
48constrictive pericarditis10.2
49cholestasis10.2
50pericarditis10.2

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:

176100

Clinical features from OMIM:

176100

Symptoms:

 52 (show all 17)
  • cutaneous photosensitivity
  • thin skin
  • hemolytic anemia
  • hyperpigmentation of the skin
  • edema
  • atypical scarring of skin
  • skin rash
  • hypopigmented skin patches
  • cirrhosis
  • hepatic steatosis
  • hepatocellular carcinoma
  • sudden cardiac death
  • generalized hirsutism
  • abnormal blistering of the skin
  • erythema
  • cerebral palsy
  • skin vesicle

HPO human phenotypes related to Porphyria Cutanea Tarda:

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

Drugs & Therapeutics for Porphyria Cutanea Tarda

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Drugs for Porphyria Cutanea Tarda (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DeferasiroxPhase 3, Phase 287201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
2
ColestipolPhase 2, Phase 3526658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
3alpha-MSHPhase 3, Phase 214
4
IronPhase 3, Phase 210807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
5cysteineNutraceuticalPhase 3166
6
HydroxychloroquinePhase 2141118-42-33652
Synonyms:
(+-)-Hydroxychloroquine
(±)-hydroxychloroquine
118-42-3
2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol
2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol
2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol
2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol
2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol
5-22-10-00280 (Beilstein Handbook Reference)
7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline
7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline
7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline
747-36-4 (sulfate (1:1) salt)
AC1L1GEW
BRN 0253894
C07043
C18H26ClN3O
CHEMBL1535
CID3652
D08050
DB01611
DivK1c_000942
EINECS 204-249-8
Gen-Hydroxychloroquine 200mg Tablets
HCQ
HMS502P04
Hidroxicloroquina
 
Hidroxicloroquina [INN-Spanish]
Hydroxychlorochin
Hydroxychloroguine
Hydroxychloroquine (INN)
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquinum
Hydroxychloroquinum [INN-Latin]
IDI1_000942
Idrossiclorochina
Idrossiclorochina [DCIT]
KBio1_000942
LS-66614
MolPort-003-847-792
NCGC00159483-02
NINDS_000942
NSC4375
Oxichlorochine
Oxichlorochinum
Oxichloroquine
Oxychlorochin
Oxychloroquine
PlaqueN/A
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
7
Aminolevulinic acid150106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea TardaCompletedNCT00599326Phase 3
2Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
3Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
4Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
5Phase III Confirmatory Study in Erythropoietic ProtoporphyriaActive, not recruitingNCT01605136Phase 3
6Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
7Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
8Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 2
9Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaRecruitingNCT01284946Phase 2
10Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of PorphyriaRecruitingNCT02922413Phase 2
11Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
12Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
13A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
14Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
15Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
16Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
17Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
18Longitudinal Study of the PorphyriasRecruitingNCT01561157
19Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
20Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
21Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
22Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
23EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
24Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
25Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaWithdrawnNCT01550705

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS66/NDF-RT44:


Cochrane evidence based reviews: porphyria, hepatoerythropoietic

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 Tarda25
2 Hepatoerythropoietic Porphyria25 23

Anatomical Context for Porphyria Cutanea Tarda

About this section

MalaCards organs/tissues related to Porphyria Cutanea Tarda:

34
Skin, Liver, Eye, Testes, Myeloid, Breast, Whole blood

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053706.9CYBRD1, CYP1A2, HFE, HFE2, SLC40A1, TFR2
2MP:00053765.5CYBRD1, CYP1A2, HFE, HFE2, HMBS, PPOX

Publications for Porphyria Cutanea Tarda

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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 561)
idTitleAuthorsYear
1
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. (26775575)
2016
2
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
3
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
4
Hepatitis C, porphyria cutanea tarda and liver iron: an update. (22510500)
2012
5
Porphyria cutanea tarda in the Basque Country: significance of HFE gene mutations and of external factors. (22680055)
2012
6
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
7
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
8
Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. (18477147)
2008
9
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
10
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: case report. (17891697)
2007
11
Porphyria cutanea tarda. (18522149)
2007
12
Porphyria cutanea tarda as rare cutaneous manifestation of hepatic metastases treated with interferon. (17973882)
2007
13
Subacute cutaneous lupus erythematosus with bullae associated with porphyria cutanea tarda. (17338797)
2007
14
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
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
Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. (15201583)
2004
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
Are hepatitis C infection and C282Y mutation in hemochromatosis gene independent factors for Porphyria cutanea tarda? (12145444)
2002
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
Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. (11128750)
2000
25
Hypertrichosis due to porphyria cutanea tarda associated with blastic transformation of myelofibrosis. (10583184)
1999
26
Alcohol intake and porphyria cutanea tarda. (10497728)
1999
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
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. (9500716)
1998
30
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
31
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
32
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. (9024376)
1997
33
High prevalence of hepatitis C virus infection in Japanese patients with porphyria cutanea tarda. (9214482)
1997
34
Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. (8773911)
1996
35
Hepatitis C virus infection and porphyria cutanea tarda in Australasia. (8546493)
1996
36
Conjugal porphyria cutanea tarda. (7826090)
1995
37
Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload. (7918235)
1994
38
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
39
Porphyria cutanea tarda in the setting of renal failure. Response to renal transplantation. (8095384)
1993
40
Chronic scarring dermatoses: remember porphyria cutanea tarda. (1604737)
1992
41
High-dose hydroxychloroquine treatment of porphyria cutanea tarda. (1597548)
1992
42
Porphyria cutanea tarda and HIV infection. (2252569)
1990
43
Porphyria cutanea tarda and acquired immunodeficiency syndrome: case reports and literature review. (2256699)
1990
44
Acute scleritis in porphyria cutanea tarda. (2330942)
1990
45
Porphyria cutanea tarda after allogeneic bone marrow transplantation for chronic myelogenous leukemia. (2327408)
1990
46
Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: an exception to the rule? (2767288)
1989
47
Generation of chemotactic activity in serum from patients with erythropoietic protoporphyria and porphyria cutanea tarda. (7442746)
1981
48
Cicatricial ectropion and lacrimal obstruction associated with the sclerodermoid variant of porphyria cutanea tarda. (7211997)
1981
49
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. (661926)
1978
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:

68 (show all 36)
id Symbol AA change Variation ID SNP ID
1URODp.Glu167LysVAR_007714rs121918058
2URODp.Gly281GluVAR_007715rs121918057
3URODp.Gly281ValVAR_007716rs121918057
4URODp.Arg292GlyVAR_007717rs121918059
5URODp.Ala80GlyVAR_007910rs776907084
6URODp.Met165ArgVAR_007911rs121918063
7URODp.Leu195PheVAR_007912rs121918064
8URODp.Leu253GlnVAR_007913rs36033115
9URODp.Asn304LysVAR_007914rs121918065
10URODp.Gly318ArgVAR_007915rs116233118
11URODp.Arg332HisVAR_007916rs121918066
12URODp.Ile334ThrVAR_007917
13URODp.Pro62LeuVAR_009103rs121918060
14URODp.Val134GlnVAR_009104
15URODp.His220ProVAR_009105
16URODp.Phe229LeuVAR_009106
17URODp.Tyr311CysVAR_009107rs121918061
18URODp.Met324ThrVAR_009108
19URODp.Arg142GlnVAR_010985
20URODp.Leu161GlnVAR_010986
21URODp.Ser219PheVAR_010987
22URODp.Pro235SerVAR_010988rs141312224
23URODp.Gly25GluVAR_022567rs764268015
24URODp.Phe46LeuVAR_022568rs769378741
25URODp.Ala80SerVAR_022569rs376921379
26URODp.Arg144ProVAR_022570
27URODp.Gly156AspVAR_022571rs762617943
28URODp.Arg193ProVAR_022572
29URODp.Leu216GlnVAR_022573
30URODp.Glu218LysVAR_022574
31URODp.Phe232LeuVAR_022575
32URODp.Ile260ThrVAR_022576
33URODp.Leu282ArgVAR_022577
34URODp.Gly303SerVAR_022578
35URODp.Gly168ArgVAR_065558
36URODp.Gly170AspVAR_065559

Clinvar genetic disease variations for Porphyria Cutanea Tarda:

5
id Gene Variation Type Significance SNP ID Assembly Location
1URODNM_000374.4(UROD): c.842G> T (p.Gly281Val)single nucleotide variantPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475
2URODNM_000374.4(UROD): c.636+1G> Csingle nucleotide variantPathogenicrs145195562GRCh38Chr 1, 45014071: 45014071
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

Expression for genes affiliated with Porphyria Cutanea Tarda

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

Pathways for genes affiliated with Porphyria Cutanea Tarda

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GO Terms for genes affiliated with Porphyria Cutanea Tarda

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Cellular components related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class I protein complexGO:004261210.6HFE, HLA-H
2basal part of cellGO:004517810.0HFE, TF
3recycling endosomeGO:005503710.0HFE, TF, TFRC
4HFE-transferrin receptor complexGO:19907129.1HFE, HFE2, TF, TFR2, TFRC
5extracellular spaceGO:00056158.4ALAD, HAMP, HFE, HFE2, TF, TFRC

Biological processes related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1response to mercury ionGO:004668910.6ALAD, UROD
2response to iron ion starvationGO:199064110.6HAMP, HFE
3antigen processing and presentation of peptide antigen via MHC class IGO:000247410.6HFE, HLA-H
4positive regulation of receptor-mediated endocytosisGO:004826010.5HFE, TF
5response to vitaminGO:003327310.5ALAD, HMBS
6positive regulation of peptide hormone secretionGO:009027710.4HFE, TFR2
7response to inorganic substanceGO:001003510.4ALAD, CPOX
8liver regenerationGO:009742110.4HAMP, HFE
9ferrous iron import into cellGO:009746010.4TF, TFR2
10cellular response to amine stimulusGO:007141810.4HMBS, UROS
11response to arsenic-containing substanceGO:004668510.3ALAD, CPOX
12porphyrin-containing compound biosynthetic processGO:000677910.3PPOX, UROS
13response to cobalt ionGO:003202510.3ALAD, HMBS
14response to lead ionGO:001028810.2ALAD, CPOX
15cellular response to lead ionGO:007128410.1ALAD, HMBS
16cellular response to iron ionGO:007128110.1HFE, TF, TFR2
17cellular response to arsenic-containing substanceGO:00712439.9HMBS, UROD, UROS
18response to zinc ionGO:00100439.9ALAD, HAMP, HMBS
19iron ion transportGO:00068269.8SLC40A1, TFR2
20response to estradiolGO:00323559.8CYP1A2, HMBS, UROD
21transferrin transportGO:00335729.7TF, TFR2, TFRC
22response to methylmercuryGO:00515979.7ALAD, CPOX, HMBS, UROD
23multicellular organismal iron ion homeostasisGO:00605869.6HAMP, HFE, SLC40A1
24response to ethanolGO:00454719.6ALAD, HAMP, UROD
25acute-phase responseGO:00069539.5HAMP, HFE, TFR2, TFRC
26response to hypoxiaGO:00016669.4ALAD, HMBS, TFRC
27heme biosynthetic processGO:00067838.9ALAD, CPOX, HMBS, PPOX, UROD, UROS
28protoporphyrinogen IX biosynthetic processGO:00067828.9ALAD, CPOX, HMBS, PPOX, UROD, UROS
29response to drugGO:00424938.7ALAD, CYP1A2, HMBS, PPOX
30iron ion homeostasisGO:00550728.7HFE, HFE2, SLC40A1, TF, TFR2
31response to iron ionGO:00100397.8ALAD, CPOX, CYBRD1, HAMP, HFE, TFR2
32cellular iron ion homeostasisGO:00068797.3CYBRD1, HAMP, HFE, HFE2, SLC40A1, TF

Molecular functions related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-2-microglobulin bindingGO:003088110.3HFE, HLA-H
2uroporphyrinogen-III synthase activityGO:000485210.2HMBS, UROS
3transferrin receptor activityGO:000499810.1TFR2, TFRC
4peptide antigen bindingGO:004260510.1HFE, HLA-H
5ferrous iron bindingGO:00081989.9TF, UROD
6co-receptor bindingGO:00397069.8HFE, TFR2
7transferrin receptor bindingGO:19904599.6HFE, HFE2, TF
8glycoprotein bindingGO:00019489.1HFE2, TFR2, TFRC

Sources for Porphyria Cutanea Tarda

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet