MCID: PRP003
MIFTS: 64

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 51 11 70 47 53 26 12 49 38 13 67
Hepatoerythropoietic Porphyria 11 70 23 47 24 53 69 26 13 67
Familial Porphyria Cutanea Tarda 53 69 67
Hep 47 53 69
Uroporphyrinogen Decarboxylase Deficiency 69 67
Porphyria, Hepatoerythropoietic 51 38
Porphyria Cutanea Tarda Type Ii 53 69
 
Pct 70 53
Porphyria Hepatocutaneous Type 69
Porphyria, Hepatic 47
Porphyria Hepatic 49
Urod Deficiency 69
Pct Type Ii 69
Fpct 69

Characteristics:

Orphanet epidemiological data:

53
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
familial porphyria cutanea tarda:
Inheritance: Autosomal dominant

HPO:

63
porphyria cutanea tarda:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 176100
Disease Ontology11 DOID:3132, DOID:5230
ICD1029 E80.1
SNOMED-CT61 61860000, 111386004
ICD10 via Orphanet30 E80.1, E80.2
MESH via Orphanet39 D017121, D017119
UMLS via Orphanet68 C0162569, C0268324, C0162566

Summaries for Porphyria Cutanea Tarda

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UniProtKB/Swiss-Prot:69 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 HIF-1-alpha transcription factor network and Iron metabolism in placenta. 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.

OMIM:51 Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of... (176100) more...

NIH Rare Diseases:47 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

Wikipedia:70 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... more...

GeneReviews 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 125)
idRelated DiseaseScoreTop Affiliating Genes
1coproporphyria29.2ALAD, CPOX, FECH, HMBS, PPOX, UROD
2porphyria variegata26.4ALAD, CPOX, FECH, HFE, HMBS, PPOX
3porphyria cutanea tarda, type i12.7
4familial porphyria cutanea tarda12.5
5porphyria, acute intermittent11.4
6porphyria11.3
7urod-related porphyrias11.1
8hepatitis10.9
9hepatitis c10.9
10hepatitis c virus10.7
11hemochromatosis10.7
12lupus erythematosus10.5
13dermatoosteolysis, kirghizian type10.4HFE, TF
14leukemia10.4
15systemic lupus erythematosus10.3
16hemophagocytic reticulosis10.3HAMP, HFE2
17thbd-related atypical hemolytic-uremic syndrome10.3HAMP, HFE
18hereditary multiple osteochondromas10.3HFE, HFE2
19liver disease10.3
20malignant visceral pleura tumor10.3TF, TFRC
21harp syndrome10.3HFE, TF
22hepatoblastoma10.2
23hepatocellular carcinoma10.2
24cutaneous lupus erythematosus10.2
25siderosis10.2
26viral hepatitis10.2
27subacute cutaneous lupus erythematosus10.2
28basilar artery insufficiency10.2HFE, TFRC
29alopecia10.2
30epidermolysis bullosa10.2
31hypertrichosis10.2
32peritonitis10.2
33discoid lupus erythematosus10.2
34kcnq2-related disorders10.1HAMP, HFE, HFE2
35tongue squamous cell carcinoma10.1HAMP, HFE, TF
36sickle cell anemia10.1HFE, TF, TFRC
37cognitive impairment with or without cerebellar ataxia10.1HAMP, TF
38myelodysplastic syndrome10.1
39arthritis10.1
40hepatitis b10.1
41myelofibrosis10.1
42thalassemia10.1
43lymphoma10.1
44lymphoblastic leukemia10.1
45constrictive pericarditis10.1
46cholestasis10.1
47pericarditis10.1
48acute porphyria10.1
49epidermolysis bullosa acquisita10.1
50lichen planus10.1

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

Human phenotypes related to Porphyria Cutanea Tarda:

 63 53 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin63 53 hallmark (90%) Very frequent (99-80%) HP:0000963
2 cutaneous photosensitivity63 53 hallmark (90%) Very frequent (99-80%) HP:0000992
3 hemolytic anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001878
4 skin rash63 53 hallmark (90%) Very frequent (99-80%) HP:0000988
5 hypopigmented skin patches63 53 hallmark (90%) Very frequent (99-80%) HP:0001053
6 irregular hyperpigmentation63 hallmark (90%) HP:0007400
7 abnormal blistering of the skin63 53 hallmark (90%) Very frequent (99-80%) HP:0008066
8 edema63 53 occasional (7.5%) Occasional (29-5%) HP:0000969
9 atypical scarring of skin63 53 occasional (7.5%) Occasional (29-5%) HP:0000987
10 hypertrichosis63 occasional (7.5%) HP:0000998
11 cirrhosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001394
12 hepatic steatosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001397
13 sudden cardiac death63 53 occasional (7.5%) Occasional (29-5%) HP:0001645
14 neoplasm of the liver63 occasional (7.5%) HP:0002896
15 reduced consciousness/confusion63 occasional (7.5%) HP:0004372
16 cerebral palsy63 53 occasional (7.5%) Occasional (29-5%) HP:0100021
17 fragile skin63 HP:0001030
18 hepatocellular carcinoma63 53 Occasional (29-5%) HP:0001402
19 alopecia63 HP:0001596
20 onycholysis63 HP:0001806
21 facial hypertrichosis63 HP:0002219
22 hyperpigmentation in sun-exposed areas63 HP:0005586
23 scleroderma63 HP:0100324
24 hyperpigmentation of the skin53 Very frequent (99-80%)
25 generalized hirsutism53 Occasional (29-5%)
26 erythema53 Very frequent (99-80%)
27 skin vesicle53 Very frequent (99-80%)

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 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 211237439-89-623925
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
2
Deferasiroxapproved, investigationalPhase 3, Phase 289201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
3
ColestipolapprovedPhase 2, Phase 3626658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
4alpha-MSHPhase 3, Phase 214
5Iron Chelating AgentsPhase 3, Phase 2222
6Hormone AntagonistsPhase 3, Phase 212778
7Chelating AgentsPhase 3, Phase 21365
8HormonesPhase 3, Phase 213979
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 212767
10Lipid Regulating AgentsPhase 2, Phase 32702
11Hypolipidemic AgentsPhase 2, Phase 32721
12AntimetabolitesPhase 2, Phase 311774
13cysteineNutraceuticalPhase 3190
14
HydroxychloroquineapprovedPhase 2146118-42-33652
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
15Antirheumatic AgentsPhase 210627
16Antiprotozoal AgentsPhase 21986
17Anti-Infective AgentsPhase 221402
18Antiparasitic AgentsPhase 22127
19AntimalarialsPhase 21216
20
DopamineapprovedPhase 1375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
21
Chlorpromazineapproved, vet_approvedPhase 11750-53-32726
Synonyms:
10-(3-Dimethylaminopropyl)-2-chlorophenothiazine
10H-Phenothiazine-10-propanamine, 2-chloro-N,N-dimethyl-, radical ion(1+)
2-Chloro-10-(3-(dimethylamino)propyl)phenothiazine
2-Chloro-10-[3-(dimethylamino)propyl]phenothiazine
2-Chloropromazine
2-Cloro-10 (3-dimetilaminopropil)fenotiazina
2-Cloro-10 (3-dimetilaminopropil)fenotiazina [Italian]
2-chloro-10-(3-(dimethylamino)propyl)-phenothiazine
2-chloro-N,N-dimethyl-10H-Phenothiazine-10-propanamine
2601A
3-(2-Chloro-10H-phenothiazin-10-yl)-N,N-dimethyl-1-propanamine
3-(2-Chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine
3-(2-chloro-10H-Phenothiazin-10-yl)-N,N-dimethyl-1-propanamine
3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethylpropan-1-amine
3-(2-chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine
3-(2-chlorophenothiazin-10-yl)-N,N-dimethylpropan-1-amine
34468-21-8
4560 R.P
4560 R.P.
4560 Rp hydrochloride
50-53-3
AB00051943
AC1L1EBT
AKOS001490972
Aminasine
Aminazin
Aminazine
Ampliactil
Amplicitil
Amplictil
BAS 00010434
BC 135
BPBio1_000273
BPBio1_001181
BSPBio_000247
BSPBio_002011
Bio1_000457
Bio1_000946
Bio1_001435
Biomol-NT_000020
C06906
C17H19ClN2S
CAS-69-09-0
CCRIS 3711
CHEBI:3647
CHEMBL71
CID2726
CPZ
Chlor-PZ
Chlor-Promanyl
Chlordelazine
Chlorderazin
Chloro-3 (dimethylamino-3 propyl)-10 phenothiazine
Chloro-3 (dimethylamino-3 propyl)-10 phenothiazine [French]
Chloropromazine
Chlorpromados
Chlorpromanyl
Chlorpromanyl (discontinued)
Chlorpromanyl-20
Chlorpromanyl-40
Chlorpromazin
Chlorpromazine
Chlorpromazine (USP/INN)
Chlorpromazine Hydrochloride Intensol
Chlorpromazine Tannate
Chlorpromazine [USAN:INN:BAN]
Chlorpromazinum
Chlorpromazinum [INN-Latin]
Clorpromazina
Clorpromazina [INN-Spanish]
Clorpromazina [Italian]
Contomin
Cromedazine
D00270
DB00477
DivK1c_000624
EINECS 200-045-8
Elmarin
Esmind
Fenactil
Fenaktyl
Fraction AB
HL 5746
HMS1920M03
HMS2089C12
HMS2091E06
HMS501P06
HSDB 3033
 
I14-6226
IDI1_000624
JHICC02042
KBio1_000624
KBio2_000622
KBio2_002312
KBio2_003190
KBio2_004880
KBio2_005758
KBio2_007448
KBio3_001231
KBio3_002792
KBioGR_000806
KBioGR_002312
KBioSS_000622
KBioSS_002314
L000182
LS-105361
Largactil
Largactil Liquid
Largactil Oral Drops
Largactilothiazine
Largactyl
Lopac-C-8138
Lopac0_000249
Megaphen
MolPort-001-727-953
N-(3-Dimethylaminopropyl)-3-chlorophenothiazine
NCGC00015273-01
NCGC00015273-02
NCGC00015273-03
NCGC00015273-14
NCGC00024409-04
NCGC00024409-05
NCGC00024409-06
NCGC00024409-07
NCGC00024409-08
NINDS_000624
NSC 167745
NSC167745
NSC17479
Novo-Chlorpromazine
Novomazina
Oprea1_110255
Phenactyl
Phenathyl
Phenothiazine hydrochloride
Plegomasine
Plegomazin
Prazilpromactil
Prestwick0_000064
Prestwick1_000064
Prestwick2_000064
Prestwick3_000064
Proma
Promactil
Promazil
Propaphen
Propaphenin
Prozil
Psychozine
QTL1_000021
SKF 2601-A
SKF 2601A
SKF-2601
SPBio_001111
SPBio_002168
SPECTRUM1500184
SR-01000000012-5
STK182870
STOCK1S-46588
Sanopron
Spectrum2_001156
Spectrum3_000346
Spectrum4_000283
Spectrum5_000717
Spectrum_000142
Thorazine
Thorazine (TN)
Thorazine Spansule
Thorazine Suppositories
Thorazine hydrochloride
Torazina
UNII-U42B7VYA4P
WLN: T C666 BN ISJ B3N1&1 EG
Wintermin
Z80
[3-(2-Chloro-phenothiazin-10-yl)-propyl]-dimethyl-amine
cMAP_000017
chlorpromazine
22Gastrointestinal AgentsPhase 18109
23Neurotransmitter AgentsPhase 117734
24Dopamine AntagonistsPhase 11083
25Tranquilizing AgentsPhase 14164
26Psychotropic DrugsPhase 16279
27Peripheral Nervous System AgentsPhase 122776
28Antipsychotic AgentsPhase 12359
29Dopamine AgentsPhase 13759
30AntiemeticsPhase 13888
31Liver ExtractsPhase 13868
32Central Nervous System DepressantsPhase 112806
33Autonomic AgentsPhase 19774
34
Aminolevulinic acidapproved157106-60-5137
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
35
Isoniazidapproved15054-85-33767
Synonyms:
37271-10-6
4-pyridinecarbohydrazide
41466-07-3
5015 R.P
5015 R.P.
5015 RP
54-85-3
62229-51-0
7640-37-1
AB00052025
AC1L1GNZ
AC1Q54UP
AC1Q54UQ
AI3-23936
AKOS000119062
AZT + Isoniazid
Abdizide
Andrazide
Anidrasona
Antimicina
Antituberkulosum
Armacide
Armazid
Armazide
Atcotibine
Azuren
BB_SC-6246
BIDD:GT0140
BP 5015
BPBio1_000025
BPBio1_001322
BSPBio_000021
BSPBio_002204
Bacillin
Biomol-NT_000288
C07054
C6H7N3O
CAS-54-85-3
CCRIS 351
CHEBI:6030
CHEMBL64
CID3767
CPD000059082
Cedin
Cedin (Aerosol)
Cemidon
Chemiazid
Chemidon
Continazine
Cortinazine
Cotinazin
Cotinizin
D00346
D007538
DB00951
Defonin
Dibutin
Diforin
Dinacrin
Ditubin
DivK1c_000070
Dow-Isoniazid
EINECS 200-214-6
Ebidene
Eralon
Ertuban
Eutizon
Evalon
FRS-3
FSR 3
FSR-3
Fetefu
Fimalene
GINK
HIA
HMS1568B03
HMS1920H09
HMS2089I16
HMS2091N19
HMS500D12
HSDB 1647
Hid rasonil
Hidranizil
Hidrasonil
Hidrulta
Hidrun
Hycozid
Hydra
Hydrazid
Hydrazide
Hyozid
Hyzyd
I.A.I
I.A.I.
I0138
I14-9731
I3377_FLUKA
I3377_SIGMA
IDI1_000070
INH
INHd20
Ido-tebin
Idrazil
In-73
Inah
Inh-Burgthal
Inizid
Iscotin
Isidrina
Ismazide
Isobicina
Isocid
Isocidene
Isocotin
Isohydrazide
Isokin
Isolyn
Isonerit
Isonex
Isoniacid
Isoniazid
Isoniazid & EEP
Isoniazid & Propolis
Isoniazid SA
Isoniazida
Isoniazide
Isoniazidum
Isonicazide
Isonicid
Isonico
Isonicotan
Isonicotil
Isonicotinhydrazid
Isonicotinic acid hydrazide
Isonicotinic hydrazide
Isonicotinohydrazide
Isonicotinoyl hydrazide
Isonicotinoylhydrazide
Isonicotinsaeurehydrazid
Isonicotinyl hydrazide
Isonicotinyl hydrazine
Isonicotinylhydrazine
Isonide
Isonidrin
Isonikazid
Isonilex
Isonin
Isonindon
Isonirit
Isoniton
Isonizida
Isonizide
Isopyrin
 
Isotamine
Isotebe
Isotebezid
Isotinyl
Isozid
Isozide
Isozyd
KBio1_000070
KBio2_001333
KBio2_003901
KBio2_006469
KBio3_001424
KBioGR_000423
KBioSS_001333
L 1945
LANIZID
LS-205
Laniazid
Laniazid (TN)
Laniozid
MLS000069444
MLS001055327
MolPort-000-141-557
Mybasan
NCGC00016244-01
NCGC00016244-02
NCGC00022648-03
NCGC00022648-04
NCGC00022648-05
NCGC00022648-06
NINDS_000070
NSC 9659
NSC9659
Neo-Tizide
Neoteben
Neoxin
Neumandin
Nevin
Niadrin
Nicazide
Nicetal
Nicizina
Niconyl
Nicotibina
Nicotibine
Nicotisan
Nicozide
Nidaton
Nidrazid
Nikozid
Niplen
Nitadon
Niteban
Nitebannsc 9659
Nydrazid
Nyscozid
Oprea1_396155
Pelazid
Percin
Phthisen
Preparation 6424
Prestwick0_000161
Prestwick1_000161
Prestwick2_000161
Prestwick3_000161
Prestwick_578
Pycazide
Pyreazid
Pyricidin
Pyridicin
Pyridine-4-carboxylic acid hydrazide
Pyrizidin
RP 5015
RP-5015
RU-EF-Tb
RY-EF-Tb
Raumanon
Razide
Retozide
Rifamate
Rimicid
Rimifon
Rimiphone
Rimitsid
Robiselin
Robisellin
Roxifen
S1937_Selleck
SAM002554904
SMR000059082
SPBio_000094
SPBio_001942
SPECTRUM1500355
STK086288
Sanohidrazina
Sauterazid
Sauterzid
Spectrum2_000107
Spectrum3_000472
Spectrum4_000022
Spectrum5_000876
Spectrum_000853
Stanozide
TB-Phlogin
TB-Razide
TB-Vis
Tebecid
Tebenic
Tebexin
Tebilon
Tebos
Teebaconin
Tekazin
Tibazide
Tibemid
Tibiazide
Tibinide
Tibison
Tibivis
Tibizide
Tibusan
Tisin
Tisiodrazida
Tizide
Tubazid
Tubazide
Tubeco
Tubecotubercid
Tuberian
Tubicon
Tubilysin
Tubizid
Tubomel
Tyvid
UNII-V83O1VOZ8L
Unicocyde
Unicozyde
Usaf cb-2
Vazadrine
Vederon
WLN: T6NJ DVMZ
ZINC00001590
Zidafimia
Zinadon
Zonazide
bacillen
bp 5 015
isoco tin
isoniazid
isozid e
nchembio884-comp3
nidra zid
rimif on
tebemid
tubercid
36
Protoporphyrin IXexperimental8553-12-8
Synonyms:
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionic acid
3,3'-(3,7,12,17-Tetramethyl-8,13-divinylporphine-2,18-diyl)di
Kammerer'S prophyrin
Ooporphyrin
 
Porphyrinogen IX
PpIX
Protoporphyrin
Protoporphyrin IX
Protoporphyrin-"IX"
Protoporphyrin-IX
37Trace Elements5802
38Micronutrients5802
39Photosensitizing Agents476
40Anti-Bacterial Agents10884
41Dermatologic Agents5674
42Antitubercular Agents1272
43Iron SupplementNutraceutical175

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Phase III Confirmatory Study in Erythropoietic ProtoporphyriaUnknown statusNCT01605136Phase 3
2Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea TardaCompletedNCT00599326Phase 3
3Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
4Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
5Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
6Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaUnknown statusNCT01284946Phase 2
7Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
8Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
9Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 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
12A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP)Enrolling by invitationNCT02949830Phase 1, Phase 2
13Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
14Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine HydrochlorideCompletedNCT02943213Phase 1
15A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
16Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaUnknown statusNCT00206869
17Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
18Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
19Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
20Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
21Longitudinal Study of the PorphyriasRecruitingNCT01561157
22Oral Iron for Erythropoietic ProtoporphyriasRecruitingNCT02979249
23Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
24Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
25EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
26Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))Active, not recruitingNCT01880983
27Acute Porphyria BiomarkersEnrolling by invitationNCT02935400
28Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
29Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaTerminatedNCT01550705

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS67/NDF-RT45:


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 Porphyria26 24
2 Porphyria Cutanea Tarda26

Anatomical Context for Porphyria Cutanea Tarda

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MalaCards organs/tissues related to Porphyria Cutanea Tarda:

35
Skin, Liver, Eye, Testes, Myeloid, Whole blood, Bone

Animal Models for Porphyria Cutanea Tarda or affiliated genes

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MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2CYP1A2, FECH, HFE, HFE2, TFRC, UROD
2MP:00053767.2CYP1A2, FECH, HFE, HFE2, HMBS, PPOX
3MP:00107686.4CYP1A2, FECH, HFE, HFE2, HMBS, PPOX

Publications for Porphyria Cutanea Tarda

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Articles related to Porphyria Cutanea Tarda:

(show top 50)    (show all 564)
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:

69 (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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1URODNM_000374.4(UROD): c.578G> C (p.Arg193Pro)SNVPathogenicrs143823335GRCh37Chr 1, 45479684: 45479684
2URODNM_000374.4(UROD): c.6_15delAGCGAATGGG (p.Glu2Aspfs)deletionPathogenicrs397514764GRCh37Chr 1, 45477943: 45477952
3URODNM_000374.4(UROD): c.346C> T (p.Gln116Ter)SNVPathogenicrs397514765GRCh37Chr 1, 45479335: 45479335
4URODNM_000374.4(UROD): c.842G> T (p.Gly281Val)SNVPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475
5URODNM_000374.4(UROD): c.842G> A (p.Gly281Glu)SNVPathogenicrs121918057GRCh37Chr 1, 45480475: 45480475
6URODNM_000374.4(UROD): c.636+1G> CSNVPathogenicrs145195562GRCh38Chr 1, 45014071: 45014071
7URODNM_000374.4(UROD): c.942G> A (p.Glu314=)SNVPathogenicrs121918062GRCh37Chr 1, 45480678: 45480678
8URODNM_000374.4(UROD): c.494T> G (p.Met165Arg)SNVPathogenicrs121918063GRCh37Chr 1, 45479600: 45479600
9URODNM_000374.4(UROD): c.583C> T (p.Leu195Phe)SNVPathogenicrs121918064GRCh37Chr 1, 45479689: 45479689
10URODNM_000374.4(UROD): c.912C> A (p.Asn304Lys)SNVPathogenicrs121918065GRCh37Chr 1, 45480648: 45480648
11URODNM_000374.4(UROD): c.995G> A (p.Arg332His)SNVPathogenicrs121918066GRCh37Chr 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
1basal part of cellGO:00451789.5HFE, TF
2recycling endosomeGO:00550379.5HFE, TF, TFRC
3HFE-transferrin receptor complexGO:19907129.3HFE, HFE2, TF, TFRC
4extracellular spaceGO:00056157.5ALAD, HAMP, HFE, HFE2, TF, TFRC

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1response to mercury ionGO:004668910.5ALAD, UROD
2response to vitaminGO:003327310.5ALAD, HMBS
3response to platinum ionGO:007054110.4ALAD, FECH
4protoporphyrinogen IX metabolic processGO:004650110.4FECH, PPOX
5cellular response to iron ionGO:007128110.4HFE, TF
6cellular response to lead ionGO:007128410.4ALAD, HMBS
7response to inorganic substanceGO:001003510.4ALAD, CPOX
8positive regulation of receptor-mediated endocytosisGO:004826010.3HFE, TF
9response to amino acidGO:004320010.3ALAD, HMBS
10response to cobalt ionGO:003202510.3ALAD, HMBS
11cellular response to amine stimulusGO:007141810.2HMBS, UROS
12response to insecticideGO:001708510.2CPOX, FECH
13response to metal ionGO:001003810.2ALAD, FECH
14porphyrin-containing compound biosynthetic processGO:000677910.1PPOX, UROS
15response to iron ion starvationGO:199064110.1HAMP, HFE
16multicellular organismal iron ion homeostasisGO:006058610.0HAMP, HFE
17cellular response to dexamethasone stimulusGO:00715499.9FECH, HMBS
18liver regenerationGO:00974219.9HAMP, HFE
19iron ion homeostasisGO:00550729.9HFE, HFE2, TF
20response to arsenic-containing substanceGO:00466859.8ALAD, CPOX, FECH
21transferrin transportGO:00335729.8TF, TFRC
22response to estradiolGO:00323559.8CYP1A2, HMBS, UROD
23response to lead ionGO:00102889.7ALAD, CPOX, FECH
24cellular response to arsenic-containing substanceGO:00712439.7HMBS, UROD, UROS
25response to zinc ionGO:00100439.4ALAD, HAMP, HMBS
26response to methylmercuryGO:00515979.3ALAD, CPOX, FECH, HMBS, UROD
27acute-phase responseGO:00069539.2HAMP, HFE, TFRC
28response to hypoxiaGO:00016669.1ALAD, HMBS, TFRC
29protoporphyrinogen IX biosynthetic processGO:00067828.9ALAD, CPOX, HMBS, PPOX, UROD, UROS
30response to ethanolGO:00454718.7ALAD, FECH, HAMP, UROD
31heme biosynthetic processGO:00067838.5ALAD, CPOX, FECH, HMBS, PPOX, UROD
32response to drugGO:00424938.4ALAD, CYP1A2, FECH, HMBS, PPOX
33cellular iron ion homeostasisGO:00068798.3HAMP, HFE, HFE2, TF, TFRC
34response to iron ionGO:00100398.0ALAD, CPOX, HAMP, HFE, TFRC, UROD

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

idNameGO IDScoreTop Affiliating Genes
1uroporphyrinogen-III synthase activityGO:00048529.7HMBS, UROS
2ferrous iron bindingGO:00081989.4FECH, TF, UROD
3transferrin receptor bindingGO:19904599.2HFE, HFE2, TF

Sources for Porphyria Cutanea Tarda

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