MCID: PRP003
MIFTS: 69

Porphyria Cutanea Tarda malady

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

Aliases & Classifications for Porphyria Cutanea Tarda

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 49 10 11 68 45 47 12 51 24 65 36
Hepatoerythropoietic Porphyria 10 68 21 45 22 12 51 65 67
Hep 68 45 51 67
Uroporphyrinogen Decarboxylase Deficiency 68 65 67
Familial Pct 68 21 22
Homozygous Porphyria Cutanea Tarda 68 65
Porphyria Cutanea Tarda, Type Ii 21 22
Familial Porphyria Cutanea Tarda 65 67
Porphyria, Hepatoerythropoietic 49 36
Urod Deficiency 68 67
 
Pct 68 51
Porphyria Cutanea Tarda Type Ii 67
Porphyria Hepatocutaneous Type 67
Porphyria, Hepatic 45
Porphyria Hepatic 47
Pct Type Ii 67
Type Ii Pct 21
F-Pct 21
Fpct 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
hepatoerythropoietic porphyria:
Prevalence: <1/1000000 (Worldwide)
porphyria cutanea tarda:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

OMIM49 176100
Disease Ontology10 DOID:3132, DOID:5230
ICD9CM29 277.1
Orphanet51 95159, 101330
SNOMED-CT59 61860000
ICD10 via Orphanet28 E80.2, E80.1
MESH via Orphanet37 D017121, D017119
UMLS via Orphanet66 C0162569, C0268324, C0162566
ICD1027 E80.1

Summaries for Porphyria Cutanea Tarda

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UniProtKB/Swiss-Prot:67 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 hemochromatosis, type 3 and porphyria, congenital erythropoietic, 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 Naphthalene metabolism and HIF-1-alpha transcription factor network. The drugs hydroxychloroquine and hydroxychloroquine sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related mouse phenotypes are growth/size/body and mortality/aging.

Disease Ontology:10 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.

NIH Rare Diseases:45 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:49 Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of... (176100) more...

Wikipedia:68 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...

GeneReviews summary for hep

GeneReviews summary for porphyria-ct

Related Diseases for Porphyria Cutanea Tarda

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

(show top 50)    (show all 281)
idRelated DiseaseScoreTop Affiliating Genes
1hemochromatosis, type 331.1HFE, TFR2
2porphyria, congenital erythropoietic30.3ALAD, CPOX, FECH, HMBS, UROD, UROS
3coproporphyria29.6ALAD, CPOX, FECH, HMBS, PPOX, UROD
4porphyria, acute intermittent29.4ALAD, CPOX, FECH, HMBS, PPOX, UROD
5porphyria variegata29.0ALAD, CPOX, FECH, HFE, HLA-H, HMBS
6porphyria11.7
7hepatitis11.4
8hepatitis c11.3
9hepatitis c virus11.2
10hemochromatosis11.2
11lupus erythematosus11.0
12liver disease10.9
13leukemia10.9
14systemic lupus erythematosus10.8
15acute porphyria10.8
16skin disease10.8
17cutaneous porphyria10.8
18viral hepatitis10.8
19galactosemia10.7
20skin conditions10.7
21scleroderma10.7
22congenital porphyria10.7
23hepatocellular carcinoma10.7
24siderosis10.7
25cutaneous lupus erythematosus10.7
26acquired immunodeficiency syndrome10.7
27iron metabolism disease10.7
28subacute cutaneous lupus erythematosus10.7
29alopecia10.6
30epidermolysis bullosa10.6
31hypertrichosis10.6
32peritonitis10.6
33discoid lupus erythematosus10.6
34hepadnavirus infection10.6
35diphtheria10.5
36pertussis10.5
37tetanus10.5
38anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.5
39myelodysplastic syndrome10.5
40arthritis10.5
41hepatitis b10.5
42myelofibrosis10.5
43thalassemia10.5
44constrictive pericarditis10.5
45hepatitis a10.5
46lichen planus10.5
47epidermolysis bullosa acquisita10.5
48cholestasis10.5
49lymphoblastic leukemia10.5
50pericarditis10.5

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



Diseases related to porphyria cutanea tarda

Symptoms for Porphyria Cutanea Tarda

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Symptoms by clinical synopsis from OMIM:

176100

Clinical features from OMIM:

176100

Symptoms:

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

HPO human phenotypes related to Porphyria Cutanea Tarda:

(show all 26)
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 autosomal dominant inheritance HP:0000006
18 cutaneous photosensitivity HP:0000992
19 fragile skin HP:0001030
20 cirrhosis HP:0001394
21 hepatocellular carcinoma HP:0001402
22 alopecia HP:0001596
23 onycholysis HP:0001806
24 facial hypertrichosis HP:0002219
25 hyperpigmentation in sun-exposed areas HP:0005586
26 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
ColestipolapprovedPhase 2, Phase 3550925-79-662816
Synonyms:
Colestid
Colestipol Hydrochloride
 
Colestipolum
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
2
IronapprovedPhase 3, Phase 29577439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3
Deferasiroxapproved, investigationalPhase 3, Phase 283201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4alpha-MSHPhase 3, Phase 212581-05-5
5cysteineNutraceuticalPhase 3143
6
HydroxychloroquineapprovedPhase 2128118-42-33652
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
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquine sulfate
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
Plaquenil
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
7
Aminolevulinic acidapproved128106-60-5137
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-Aminolevulinate hydrochloride
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
Levulan Kerastick
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 24)
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
10Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
11Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
12A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
13Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
14Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
15Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
16Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
17Longitudinal Study of the PorphyriasRecruitingNCT01561157
18Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
19Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
20Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
21Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
22EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
23Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
24Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaWithdrawnNCT01550705

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS65/NDF-RT43:


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 Hepatoerythropoietic Porphyria22
2 Porphyria Cutanea Tarda, Type Ii22
3 Porphyria Cutanea Tarda24

Anatomical Context for Porphyria Cutanea Tarda

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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

33
Skin, Liver, Bone, Eye, Testes, Myeloid, Breast

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053786.7CYP1A1, FECH, HAMP, HFE, SLC40A1, TF
2MP:00107686.5CYP1A1, CYP1A2, FECH, HAMP, HFE, HMBS
3MP:00053876.4CYP1A1, CYP1A2, FECH, HAMP, HFE, SLC40A1
4MP:00053706.4CYBRD1, CYP1A1, CYP1A2, FECH, HFE, SLC40A1
5MP:00053976.4CYP1A1, CYP1A2, FECH, HAMP, HFE, SLC40A1
6MP:00053765.0CYBRD1, CYP1A1, CYP1A2, FECH, HAMP, HFE

Publications for Porphyria Cutanea Tarda

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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 550)
idTitleAuthorsYear
1
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
2
Porphyria cutanea tarda and spherocytosis: a non-random association? (23093332)
2013
3
Dermacase. Can you identify this condition? Porphyria cutanea tarda. (23851543)
2013
4
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
5
Hepatitis C, porphyria cutanea tarda and liver iron: an update. (22510500)
2012
6
Porphyria cutanea tarda: treatment options revisited. (22982098)
2012
7
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
8
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
9
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
10
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
11
Mast cells and transforming growth factor-beta expression: a possible relationship in the development of porphyria cutanea tarda skin lesions. (18477147)
2008
12
Effect of iron and ascorbate on uroporphyria in ascorbate-requiring mice as a model for porphyria cutanea tarda. (17187429)
2007
13
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
14
Porphyria cutanea tarda in a patient with HIV-infection. (15861867)
2005
15
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
16
No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. (15202857)
2004
17
Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. (12737448)
2003
18
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
19
Uroporphyria caused by ethanol in Hfe(-/-) mice as a model for porphyria cutanea tarda. (12540785)
2003
20
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
21
Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. (11831056)
2002
22
Hepatitis C virus and GBV-C/hepatitis G virus in Argentine patients with porphyria cutanea tarda. (11509882)
2001
23
The HFE gene S65C polymorphism is rare among Bulgarian porphyria cutanea tarda patients. (11322214)
2001
24
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
25
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
26
Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?]. (11037612)
2000
27
Porphyria cutanea tarda. Don't forget to look at the urine. (10223097)
1999
28
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
29
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. (9918132)
1998
30
Acquired characteristics of porphyria cutanea tarda in patients infected with hepatitis C virus]. (9674292)
1998
31
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. (9500716)
1998
32
Porphyria cutanea tarda associated with human immunodeficiency virus infection. (9854161)
1998
33
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
34
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
35
Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. (8773911)
1996
36
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
37
Conjugal porphyria cutanea tarda. (7826090)
1995
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
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
41
Chronic scarring dermatoses: remember porphyria cutanea tarda. (1604737)
1992
42
High-dose hydroxychloroquine treatment of porphyria cutanea tarda. (1597548)
1992
43
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
44
Porphyria cutanea tarda and HIV infection. (2252569)
1990
45
Porphyria cutanea tarda and acquired immunodeficiency syndrome: case reports and literature review. (2256699)
1990
46
Porphyria cutanea tarda and scleroderma--chance association or related disease: a case report. (2208778)
1990
47
Acute scleritis in porphyria cutanea tarda. (2330942)
1990
48
Porphyria cutanea tarda resulting from primary hepatocellular carcinoma. (2850121)
1988
49
Generation of chemotactic activity in serum from patients with erythropoietic protoporphyria and porphyria cutanea tarda. (7442746)
1981
50
Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. (4785438)
1973

Variations for Porphyria Cutanea Tarda

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

67 (show all 36)
id Symbol AA change Variation ID SNP ID
1URODp.Glu167LysVAR_007714
2URODp.Gly281GluVAR_007715
3URODp.Gly281ValVAR_007716
4URODp.Arg292GlyVAR_007717
5URODp.Ala80GlyVAR_007910
6URODp.Met165ArgVAR_007911
7URODp.Leu195PheVAR_007912
8URODp.Leu253GlnVAR_007913rs36033115
9URODp.Asn304LysVAR_007914
10URODp.Gly318ArgVAR_007915rs116233118
11URODp.Arg332HisVAR_007916
12URODp.Ile334ThrVAR_007917
13URODp.Pro62LeuVAR_009103
14URODp.Val134GlnVAR_009104
15URODp.His220ProVAR_009105
16URODp.Phe229LeuVAR_009106
17URODp.Tyr311CysVAR_009107
18URODp.Met324ThrVAR_009108
19URODp.Arg142GlnVAR_010985
20URODp.Leu161GlnVAR_010986
21URODp.Ser219PheVAR_010987
22URODp.Pro235SerVAR_010988
23URODp.Gly25GluVAR_022567
24URODp.Phe46LeuVAR_022568
25URODp.Ala80SerVAR_022569
26URODp.Arg144ProVAR_022570
27URODp.Gly156AspVAR_022571
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 (show all 13)
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.842G> A (p.Gly281Glu)single nucleotide variantPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475
3URODNM_000374.4(UROD): c.636+1G> Csingle nucleotide variantPathogenicrs145195562GRCh38Chr 1, 45014071: 45014071
4URODNM_000374.4(UROD): c.499G> A (p.Glu167Lys)single nucleotide variantPathogenicrs121918058GRCh37Chr 1, 45479605: 45479605
5URODNM_000374.4(UROD): c.874C> G (p.Arg292Gly)single nucleotide variantPathogenicrs121918059GRCh37Chr 1, 45480507: 45480507
6URODNM_000374.4(UROD): c.185C> T (p.Pro62Leu)single nucleotide variantPathogenicrs121918060GRCh37Chr 1, 45478859: 45478859
7URODNM_000374.4(UROD): c.932A> G (p.Tyr311Cys)single nucleotide variantPathogenicrs121918061GRCh37Chr 1, 45480668: 45480668
8URODNM_000374.4(UROD): c.942G> A (p.Glu314=)single nucleotide variantPathogenicrs121918062GRCh37Chr 1, 45480678: 45480678
9URODNM_000374.4(UROD): c.494T> G (p.Met165Arg)single nucleotide variantPathogenicrs121918063GRCh37Chr 1, 45479600: 45479600
10URODNM_000374.4(UROD): c.583C> T (p.Leu195Phe)single nucleotide variantPathogenicrs121918064GRCh37Chr 1, 45479689: 45479689
11URODNM_000374.4(UROD): c.912C> A (p.Asn304Lys)single nucleotide variantPathogenicrs121918065GRCh37Chr 1, 45480648: 45480648
12URODNM_000374.4(UROD): c.995G> A (p.Arg332His)single nucleotide variantPathogenicrs121918066GRCh37Chr 1, 45481061: 45481061
13HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Porphyria Cutanea Tarda

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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:004261210.4HFE, HLA-H
2basal part of cellGO:004517810.2HFE, TF
3recycling endosomeGO:00550379.5HFE, TF, TFRC
4HFE-transferrin receptor complexGO:19907129.3HFE, TF, TFR2, TFRC

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

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1cellular response to lead ionGO:007128410.7ALAD, HMBS
2response to mercury ionGO:004668910.6ALAD, UROD
3response to vitaminGO:003327310.6ALAD, HMBS
4response to platinum ionGO:007054110.6ALAD, FECH
5protoporphyrinogen IX metabolic processGO:004650110.6FECH, PPOX
6response to cobalt ionGO:003202510.6ALAD, HMBS
7positive regulation of receptor-mediated endocytosisGO:004826010.5HFE, TF
8response to insecticideGO:001708510.4CPOX, FECH
9cellular response to amine stimulusGO:007141810.4HMBS, UROS
10positive regulation of peptide hormone secretionGO:009027710.4HFE, TFR2
11response to herbicideGO:000963510.3ALAD, CYP1A1
12tetrapyrrole biosynthetic processGO:003301410.3ALAD, HMBS, UROS
13ferrous iron import into cellGO:009746010.3TF, TFR2
14cellular response to arsenic-containing substanceGO:007124310.2HMBS, UROD, UROS
15toxin metabolic processGO:000940410.2CYP1A1, CYP1A2
16dibenzo-p-dioxin metabolic processGO:001889410.2CYP1A1, CYP1A2
17response to immobilization stressGO:003590210.2CYP1A1, CYP1A2
18omega-hydroxylase P450 pathwayGO:009726710.2CYP1A1, CYP1A2
19heterocycle metabolic processGO:004648310.1CYP1A1, CYP1A2
20response to inorganic substanceGO:001003510.1ALAD, CPOX, TFRC
21epoxygenase P450 pathwayGO:001937310.1CYP1A1, CYP1A2
22response to metal ionGO:001003810.1ALAD, FECH, HMBS
23cellular response to iron ionGO:007128110.1HFE, TF, TFR2
24hydrogen peroxide biosynthetic processGO:00506659.9CYP1A1, CYP1A2
25response to ethanolGO:00454719.9ALAD, FECH, UROD
26multicellular organismal iron ion homeostasisGO:00605869.8HAMP, HFE, SLC40A1
27transferrin transportGO:00335729.8TF, TFR2, TFRC
28cellular response to dexamethasone stimulusGO:00715499.7FECH, HMBS
29response to estradiolGO:00323559.7CYP1A2, HMBS, UROD
30response to methylmercuryGO:00515979.7ALAD, CPOX, FECH, HMBS, UROD
31response to arsenic-containing substanceGO:00466859.7ALAD, CPOX, CYP1A1, FECH
32iron ion transportGO:00068269.7SLC40A1, TF, TFR2
33response to lead ionGO:00102889.6ALAD, CPOX, FECH, HMBS
34porphyrin-containing compound biosynthetic processGO:00067799.6CPOX, FECH, PPOX, UROD, UROS
35response to organic cyclic compoundGO:00140709.5ALAD, CYP1A1, CYP1A2, HMBS, UROD
36protoporphyrinogen IX biosynthetic processGO:00067829.4ALAD, CPOX, HMBS, PPOX, UROD, UROS
37response to hypoxiaGO:00016669.1ALAD, CYP1A1, HMBS, TFRC
38heme biosynthetic processGO:00067839.1ALAD, CPOX, FECH, HMBS, PPOX, UROD
39response to organic substanceGO:00100338.7ALAD, CYP1A1, CYP1A2, TFRC
40iron ion homeostasisGO:00550728.6FECH, HAMP, HFE, SLC40A1, TF, TFR2
41response to drugGO:00424938.5ALAD, CYP1A1, CYP1A2, FECH, HMBS, PPOX
42oxidation-reduction processGO:00551148.3CPOX, CYBRD1, CYP1A1, CYP1A2, PPOX
43porphyrin-containing compound metabolic processGO:00067788.2ALAD, CPOX, CYP1A1, CYP1A2, FECH, HMBS
44small molecule metabolic processGO:00442817.9ALAD, CPOX, CYP1A1, CYP1A2, FECH, HMBS
45response to iron ionGO:00100397.8ALAD, CPOX, CYBRD1, HAMP, HFE, TFR2
46cellular iron ion homeostasisGO:00068797.5CYBRD1, HAMP, HFE, SLC40A1, TF, TFR2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1beta-2-microglobulin bindingGO:003088110.5HFE, HLA-H
2transferrin receptor bindingGO:199045910.4HFE, TF
3uroporphyrinogen-III synthase activityGO:000485210.4HMBS, UROS
4co-receptor bindingGO:003970610.2HFE, TFR2
5demethylase activityGO:003245110.1CYP1A1, CYP1A2
6ferrous iron bindingGO:000819810.1FECH, TF, UROD
7transferrin receptor activityGO:000499810.1TFR2, TFRC
8aromatase activityGO:00703309.9CYP1A1, CYP1A2
9oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:00167129.8CYP1A1, CYP1A2
10iron ion bindingGO:00055069.4CYP1A1, CYP1A2, FECH
11heme bindingGO:00200379.3CYP1A1, CYP1A2, FECH

Sources for Porphyria Cutanea Tarda

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet