MCID: PRP003
MIFTS: 65

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:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 21GeneReviews, 22GeneTests, 67UniProtKB/Swiss-Prot, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Porphyria Cutanea Tarda:

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

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

HPO:

61
porphyria cutanea tarda:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 176100
Disease Ontology10 DOID:3132, DOID:5230
ICD1027 E80.1
SNOMED-CT59 61860000
Orphanet51 95159, 101330
UMLS via Orphanet66 C0162569, C0268324, C0162566
ICD10 via Orphanet28 E80.2, E80.1
MESH via Orphanet37 D017121, D017119
UMLS65 C0162566, C0162569, C0342861 C0268323, more

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 sickle cell anemia and coproporphyria, and has symptoms including hemolytic anemia, cutaneous photosensitivity and thin skin. An important gene associated with Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways are Antigen Presentation- Folding, assembly and peptide loading of class I MHC and Naphthalene metabolism. The drugs hydroxychloroquine and hydroxychloroquine sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and breast, and related mouse phenotypes are mortality/aging and liver/biliary system.

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 NBK169003

GeneReviews summary for NBK143129

Related Diseases for Porphyria Cutanea Tarda

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Diseases in the Porphyria Cutanea Tarda family:

Sporadic Porphyria Cutanea Tarda 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 413)
idRelated DiseaseScoreTop Affiliating Genes
1sickle cell anemia30.7HFE, TF, TFR2, TFRC
2coproporphyria29.3ALAD, CPOX, FECH, HMBS, PPOX, UROD
3sporadic porphyria cutanea tarda13.0
4familial porphyria cutanea tarda13.0
5acute porphyria11.7
6urod-related porphyrias11.6
7porphyria11.3
8porphyria, acute intermittent10.9
9hepatitis10.7
10cerebritis10.7
11leukemia10.6
12lymphoma10.6
13lung cancer10.6
14thyroiditis10.6
15schizophrenia10.6
16endotheliitis10.6
17prostate cancer10.5
18breast cancer10.5
19heart disease10.5
20prostatitis10.5
21rhinitis10.5
22coronary artery disease10.5
23obesity10.5
24allergic rhinitis10.5
25artery disease10.5
26sarcoma10.5
27esophagitis10.5
28melanoma10.5
29cervicitis10.5
30adenocarcinoma10.5
31neuronitis10.5
32influenza10.5
33vasculitis10.5
34aneurysm10.5
35cerebral atrophy10.5
36encephalopathy10.5
37ah amyloidosis10.4HFE, UROD
38baraitser brett piesowicz syndrome10.4HFE, TF
39diarrhea 1, secretory chloride, congenital10.4HFE, TFR2
40hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.4HFE, TFR2
41neuroblastoma10.4
42systemic lupus erythematosus10.4
43hiv-110.4
44renal cell carcinoma10.4
45arthritis10.4
46b-cell lymphomas10.4
47gastric cancer10.4
48male infertility10.4
49marginal zone b-cell lymphoma10.4
50polycystic ovary syndrome10.4

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



Diseases related to porphyria cutanea tarda

Symptoms for Porphyria Cutanea Tarda

About this section

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 25)
id Description Frequency HPO Source Accession
1 hemolytic anemia hallmark (90%) HP:0001878
2 cutaneous photosensitivity hallmark (90%) HP:0000992
3 thin skin hallmark (90%) HP:0000963
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 scleroderma HP:0100324
18 hyperpigmentation in sun-exposed areas HP:0005586
19 facial hypertrichosis HP:0002219
20 onycholysis HP:0001806
21 alopecia HP:0001596
22 hepatocellular carcinoma HP:0001402
23 cirrhosis HP:0001394
24 fragile skin HP:0001030
25 cutaneous photosensitivity HP:0000992

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 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 210217439-89-623925
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
2
Deferasiroxapproved, investigationalPhase 3, Phase 286201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
3
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
4Hormone AntagonistsPhase 3, Phase 210002
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 29988
6alpha-MSHPhase 3, Phase 212581-05-5
7Chelating AgentsPhase 3, Phase 2667
8HormonesPhase 3, Phase 211748
9Iron Chelating AgentsPhase 3, Phase 2178
10AntimetabolitesPhase 2, Phase 39454
11Hypolipidemic AgentsPhase 2, Phase 32228
12cysteineNutraceuticalPhase 3150
13
HydroxychloroquineapprovedPhase 2136118-42-33652
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
14Antirheumatic AgentsPhase 28496
15Antiprotozoal AgentsPhase 21730
16AntimalarialsPhase 21058
17Antiparasitic AgentsPhase 21854
18Anti-Infective AgentsPhase 217220
19Liver ExtractsPhase 13572
20
Aminolevulinic acidapproved142106-60-5137
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 cutanea tarda

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

Anatomical Context for Porphyria Cutanea Tarda

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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

33
Skin, Liver, Breast, Brain, T cells, Heart, Colon

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:00107686.6CYP1A1, CYP1A2, FECH, HFE, HMBS, PPOX
2MP:00053706.3CYBRD1, CYP1A1, CYP1A2, FECH, HFE, SLC40A1
3MP:00053765.0CYBRD1, CYP1A1, CYP1A2, FECH, HFE, HMBS

Publications for Porphyria Cutanea Tarda

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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 553)
idTitleAuthorsYear
1
Ubiquitin ligase Fbw7 restricts the replication of hepatitis C virus by targeting NS5B for ubiquitination and degradation. (26774344)
2016
2
Cytoreductive Surgery Plus Hyperthermic Intraperitoneal Chemotherapy for Pseudomyxoma Peritonei Arising from Urachus. (26714961)
2015
3
Is phosphorylated tau unique to chronic traumatic encephalopathy? Phosphorylated tau in epileptic brain and chronic traumatic encephalopathy. (26556772)
2015
4
Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case-control studies. (24998351)
2015
5
Prognostication in myelodysplastic syndromes: beyond the International Prognostic Scoring System (IPSS). (23507216)
2013
6
Recombinant vaccine displaying the loop-neutralizing determinant from protective antigen completely protects rabbits from experimental inhalation anthrax. (23283638)
2013
7
Anesthetic management during Cesarean section in a woman with residual Arnold-Chiari malformation Type I, cervical kyphosis, and syringomyelia. (22439117)
2012
8
Silicosis in sandblasters of shipyard versus silicosis in stone carvers in Brazil: a comparison of imaging findings, lung function variables and cardiopulmonary exercise testing parameters. (22717312)
2012
9
Allogenic hematopoietic stem cell as curative treatment in myelofibrosis. (22156358)
2011
10
Downregulation of cough by exercise and voluntary hyperpnea. (20047078)
2010
11
Human parainfluenza virus type 2 V protein inhibits interferon production and signaling and is required for replication in non-human primates. (19969320)
2010
12
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. (19645038)
2009
13
Deep breath test for evaluation of autonomic nervous system dysfunction in familial dysautonomia. (20077949)
2009
14
Glycated adducts induce mesothelial cell transdifferentiation: role of glucose and icodextrin dialysis solutions. (18587733)
2008
15
Fcgamma receptor type IIIA genotype and response to tumor necrosis factor alpha-blocking agents in patients with rheumatoid arthritis. (17265480)
2007
16
Prediction of preterm delivery based on maternal plasma urocortin. (17986644)
2007
17
Phosphatidylinositol 3-kinase/Akt regulates the balance between plasminogen activator inhibitor-1 and urokinase to promote migration of SKOV-3 ovarian cancer cells. (17070899)
2007
18
Dynamic regulation of mammalian numb by G protein-coupled receptors and protein kinase C activation: Structural determinants of numb association with the cortical membrane. (16837553)
2006
19
Inhibition of the mammalian target of rapamycin and the induction of cell cycle arrest in mantle cell lymphoma cells. (16219581)
2005
20
Redox metals and oxidative abnormalities in human prion diseases. (16096758)
2005
21
Assaying the Drosophila negative feedback loop with RNA interference in S2 cells. (15817315)
2005
22
Idiopathic granulomatous mastitis: a case successfully treated with a minimum dose of a steroid. (16124160)
2005
23
A placebo-controlled study of nefazodone for the treatment of chronic posttraumatic stress disorder: a preliminary study. (15118483)
2004
24
Mammaglobin expression in leukapheresis products is a predictive marker of poor prognosis in women with high-risk breast cancer. (15447988)
2004
25
Human lymphocyte stimulation with pouchitis flora is greater than with flora from a healthy pouch but is suppressed by metronidazole. (15542518)
2004
26
Interferon therapy-responsive brain metabolic abnormalities in a case of adult-onset subacute sclerosing panencephalitis evaluated by 1H MRS analysis. (12614932)
2003
27
Proceedings and abstracts from the NETwork/European Neuroendocrine Tumor Group meeting on neuroendocrine tumors. May 8-9, 2003. London, United Kingdom. (14736332)
2003
28
Biochemical characteristics of guanine nucleotide binding protein alpha-subunit recombinant protein and three mutants: investigation of a domain motion involved in GDP-GTP exchange. (11905447)
2002
29
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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_007916rs121918066
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
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
8HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, 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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Biological processes related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1cellular response to lead ionGO:007128410.6ALAD, HMBS
2response to mercury ionGO:004668910.6ALAD, UROD
3response to cobalt ionGO:003202510.5ALAD, HMBS
4response to nutrient levelsGO:003166710.5ALAD, HMBS
5cellular response to arsenic-containing substanceGO:007124310.4UROD, UROS
6response to metal ionGO:001003810.4ALAD, FECH
7cellular response to amine stimulusGO:007141810.4HMBS, UROS
8positive regulation of peptide hormone secretionGO:009027710.4HFE, TFR2
9response to zinc ionGO:001004310.3ALAD, HMBS
10acute-phase responseGO:000695310.3HFE, TFRC
11protoporphyrinogen IX biosynthetic processGO:000678210.3ALAD, CPOX, HMBS
12response to methylmercuryGO:005159710.2ALAD, HMBS, UROD
13tetrapyrrole biosynthetic processGO:003301410.2ALAD, HMBS, UROS
14response to inorganic substanceGO:001003510.2ALAD, TFRC
15response to arsenic-containing substanceGO:004668510.1CYP1A1, FECH
16response to lead ionGO:001028810.1ALAD, FECH, HMBS
17cellular response to dexamethasone stimulusGO:007154910.1FECH, HMBS
18response to ethanolGO:004547110.0ALAD, FECH, UROD
19arachidonic acid metabolic processGO:001936910.0CYP1A1, CYP1A2
20drug metabolic processGO:001714410.0CYP1A1, CYP1A2
21omega-hydroxylase P450 pathwayGO:009726710.0CYP1A1, CYP1A2
22toxin metabolic processGO:00094049.9CYP1A1, CYP1A2
23heterocycle metabolic processGO:00464839.9CYP1A1, CYP1A2
24dibenzo-p-dioxin metabolic processGO:00188949.9CYP1A1, CYP1A2
25hydrogen peroxide biosynthetic processGO:00506659.8CYP1A1, CYP1A2
26response to estradiolGO:00323559.7CYP1A2, HMBS, UROD
27response to organic cyclic compoundGO:00140709.7ALAD, HMBS, UROD
28multicellular organismal iron ion homeostasisGO:00605869.6HAMP, HFE, SLC40A1
29epoxygenase P450 pathwayGO:00193739.6CYP1A1, CYP1A2
30response to lipopolysaccharideGO:00324969.4ALAD, CYP1A1, CYP1A2
31heme biosynthetic processGO:00067839.4ALAD, CPOX, FECH, PPOX, UROS
32response to iron ionGO:00100399.3ALAD, CPOX, HAMP, HFE, TFR2
33iron ion homeostasisGO:00550729.2HFE, SLC40A1, TF, TFR2
34response to drugGO:00424939.1ALAD, CYP1A1, CYP1A2, HMBS, PPOX
35cellular iron ion homeostasisGO:00068799.0SLC40A1, TF, TFR2, TFRC
36porphyrin-containing compound metabolic processGO:00067787.4ALAD, CPOX, CYP1A1, CYP1A2, FECH, HMBS

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

idNameGO IDScoreTop Affiliating Genes
1monooxygenase activityGO:00044979.7CYP1A1, CYP1A2

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