F-PCT
MCID: FML324
MIFTS: 29

Familial Porphyria Cutanea Tarda (F-PCT)

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

Aliases & Classifications for Familial Porphyria Cutanea Tarda

MalaCards integrated aliases for Familial Porphyria Cutanea Tarda:

Name: Familial Porphyria Cutanea Tarda 25 29 6 17 70
Porphyria Cutanea Tarda, Type Ii 25
Porphyria Cutanea Tarda 70
Familial Pct 25
Type Ii Pct 25
F-Pct 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of f-pct is low. usually individuals with f-pct are simplex cases (i.e., a single occurrence in a family). no population-based studies have been done to determine the frequency of pathogenic variants in urod in asymptomatic individuals to provide an estimate of penetrance....

Classifications:



External Ids:

UMLS 70 C0162566 C0268323

Summaries for Familial Porphyria Cutanea Tarda

MalaCards based summary : Familial Porphyria Cutanea Tarda, also known as porphyria cutanea tarda, type ii, is related to porphyria cutanea tarda and porphyria. An important gene associated with Familial Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase). The drugs Deferasirox and Chelating Agents have been mentioned in the context of this disorder.

GeneReviews: NBK143129

Related Diseases for Familial Porphyria Cutanea Tarda

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



Diseases related to Familial Porphyria Cutanea Tarda

Symptoms & Phenotypes for Familial Porphyria Cutanea Tarda

Drugs & Therapeutics for Familial Porphyria Cutanea Tarda

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
2 Chelating Agents Phase 3
3 Iron Chelating Agents Phase 3
4
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
5
Ledipasvir Approved Phase 2 1256388-51-8 67505836
6
Iron Approved Phase 2 7439-89-6 23925 29936
7
Hydroxychloroquine Approved Phase 2 118-42-3 3652
8 Antiviral Agents Phase 2
9 Ledipasvir, sofosbuvir drug combination Phase 2
10 Anti-Infective Agents Phase 2
11 Antimalarials Phase 2
12 Antirheumatic Agents Phase 2
13 Antiparasitic Agents Phase 2
14 Antiprotozoal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
2 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
3 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
4 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Active, not recruiting NCT01573754 Phase 2 Hydroxychloroquine
5 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
6 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772

Search NIH Clinical Center for Familial Porphyria Cutanea Tarda

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Hydroxychloroquine
Hydroxychloroquine Sulfate

Genetic Tests for Familial Porphyria Cutanea Tarda

Genetic tests related to Familial Porphyria Cutanea Tarda:

# Genetic test Affiliating Genes
1 Familial Porphyria Cutanea Tarda 29 HFE UROD

Anatomical Context for Familial Porphyria Cutanea Tarda

Publications for Familial Porphyria Cutanea Tarda

Articles related to Familial Porphyria Cutanea Tarda:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. 6 25 61
23545314 2013
2
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. 25 6
19233912 2009
3
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 61 6
9792863 1998
4
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 6 61
2243121 1990
5
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. 61 6
2920211 1989
6
Expression and characterization of six clinically relevant uroporphyrinogen decarboxylase gene mutations. 25 61
16095052 2005
7
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene. 61 25
15186324 2004
8
Hepatitis C, porphyria cutanea tarda and liver iron: an update. 25
22510500 2012
9
The association between porphyria cutanea tarda and diabetes mellitus: analysis of a long-term follow-up cohort. 25
21564073 2011
10
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study. 25
20978938 2011
11
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. 25
20479301 2010
12
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. 25
20517178 2010
13
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. 25
19419417 2009
14
Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature. 25
18720935 2008
15
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 25
17360334 2007
16
Porphyria cutanea tarda in a Swedish population: risk factors and complications. 25
16191856 2005
17
Association of porphyria cutanea tarda with hereditary hemochromatosis. 25
15280838 2004
18
Porphyria cutanea tarda in pregnancy: a case report. 25
15369945 2004
19
Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. 25
15201583 2004
20
Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. 25
12622622 2003
21
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. 25
11855561 2002
22
Porphyria cutanea tarda triggered by a combination of three predisposing factors. 25
11586030 2001
23
Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. 25
10727312 2000
24
Circulating pro- and antioxidant factors in iron and porphyrin metabolism disorders. 25
10669994 1999
25
Childhood-onset porphyria cutanea tarda: successful therapy with low-dose hydroxychloroquine (Plaquenil). 25
9591792 1998
26
Ascorbic acid deficiency in porphyria cutanea tarda. 25
9280147 1997
27
Studies of laminin and type IV collagen in blisters of porphyria cutanea tarda and drug-induced pseudoporphyria. 25
1880250 1991
28
Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis. 25
2104958 1990
29
Plasma ferritin levels as a guide to the treatment of porphyria cutanea tarda by venesection. 25
3250437 1988
30
High weekly intravenous doses of desferrioxamine in porphyria cutanea tarda. 25
3676087 1987
31
Porphyria cutanea tarda associated with the acquired immune deficiency syndrome. 25
3578259 1987
32
Serum ferritin in the assessment of liver iron overload and iron removal therapy in porphyria cutanea tarda. 25
3941293 1986
33
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication. 25
4096525 1985
34
Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients. 25
463934 1979
35
Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female. 61
33393347 2021
36
Non-familial porphyria cutanea tarda: a rare disease. 61
30229639 2020
37
Porphyria cutanea tarda: Recent update. 61
30683557 2019
38
The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation. 61
30522880 2019
39
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. 61
27661980 2016
40
Hepatoerythropoietic Porphyria 61
24175354 2013
41
Familial Porphyria Cutanea Tarda 61
23741761 2013
42
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. 61
22382040 2012
43
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. 61
21079081 2010
44
Porphyria cutanea tarda--when skin meets liver. 61
20955974 2010
45
Longitudinal study of a mouse model of familial porphyria cutanea tarda. 61
19656451 2009
46
Sclerodermatous changes of face, neck and scalp associated with familial porphyria cutanea tarda. 61
18498414 2008
47
Measurement of liver iron content by magnetic resonance imaging in 20 patients with overt porphyria cutanea tarda before phlebotomy therapy: a prospective study. 61
18709302 2008
48
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. 61
17627795 2007
49
Molecular mechanisms of dominant expression in porphyria. 61
15868463 2005
50
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. 61
12735639 2003

Variations for Familial Porphyria Cutanea Tarda

ClinVar genetic disease variations for Familial Porphyria Cutanea Tarda:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UROD NM_000374.5(UROD):c.842G>T (p.Gly281Val) SNV Pathogenic 65 rs121918057 GRCh37: 1:45480475-45480475
GRCh38: 1:45014803-45014803
2 UROD NM_000374.5(UROD):c.636+1G>C SNV Pathogenic 67 rs145195562 GRCh37: 1:45479743-45479743
GRCh38: 1:45014071-45014071
3 UROD NM_000374.5(UROD):c.942G>A (p.Glu314=) SNV Pathogenic 72 rs121918062 GRCh37: 1:45480678-45480678
GRCh38: 1:45015006-45015006
4 UROD NM_000374.5(UROD):c.494T>G (p.Met165Arg) SNV Pathogenic 73 rs121918063 GRCh37: 1:45479600-45479600
GRCh38: 1:45013928-45013928
5 UROD NM_000374.5(UROD):c.583C>T (p.Leu195Phe) SNV Pathogenic 74 rs121918064 GRCh37: 1:45479689-45479689
GRCh38: 1:45014017-45014017
6 UROD NM_000374.5(UROD):c.912C>A (p.Asn304Lys) SNV Pathogenic 75 rs121918065 GRCh37: 1:45480648-45480648
GRCh38: 1:45014976-45014976
7 UROD NM_000374.5(UROD):c.995G>A (p.Arg332His) SNV Pathogenic 76 rs121918066 GRCh37: 1:45481061-45481061
GRCh38: 1:45015389-45015389
8 UROD NM_000374.5(UROD):c.904C>T (p.Gln302Ter) SNV Pathogenic 801474 rs1569967143 GRCh37: 1:45480640-45480640
GRCh38: 1:45014968-45014968
9 UROD NM_000374.5(UROD):c.21-1G>C SNV Pathogenic 915319 GRCh37: 1:45478578-45478578
GRCh38: 1:45012906-45012906
10 UROD NM_000374.5(UROD):c.842G>A (p.Gly281Glu) SNV Pathogenic 66 rs121918057 GRCh37: 1:45480475-45480475
GRCh38: 1:45014803-45014803
11 UROD NM_000374.5(UROD):c.578G>C (p.Arg193Pro) SNV Pathogenic 254172 rs143823335 GRCh37: 1:45479684-45479684
GRCh38: 1:45014012-45014012
12 HFE-AS1 , HFE NM_139011.3(HFE):c.77-2168C>G SNV Pathogenic 10 rs1799945 GRCh37: 6:26091179-26091179
GRCh38: 6:26090951-26090951
13 UROD NM_000374.5(UROD):c.758T>A (p.Leu253Gln) SNV Conflicting interpretations of pathogenicity 297463 rs36033115 GRCh37: 1:45480232-45480232
GRCh38: 1:45014560-45014560
14 UROD NM_000374.5(UROD):c.*70G>A SNV Uncertain significance 876226 GRCh37: 1:45481240-45481240
GRCh38: 1:45015568-45015568
15 UROD NM_000374.5(UROD):c.21-12C>T SNV Uncertain significance 876315 GRCh37: 1:45478567-45478567
GRCh38: 1:45012895-45012895
16 HFE-AS1 , HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys) SNV Uncertain significance 11 rs1800730 GRCh37: 6:26091185-26091185
GRCh38: 6:26090957-26090957
17 UROD NM_000374.5(UROD):c.-1C>T SNV Uncertain significance 297458 rs886046364 GRCh37: 1:45477937-45477937
GRCh38: 1:45012265-45012265
18 UROD NM_000374.5(UROD):c.693G>A (p.Lys231=) SNV Uncertain significance 297461 rs143180539 GRCh37: 1:45480167-45480167
GRCh38: 1:45014495-45014495
19 UROD NM_000374.5(UROD):c.27G>C (p.Gln9His) SNV Uncertain significance 874337 GRCh37: 1:45478585-45478585
GRCh38: 1:45012913-45012913
20 UROD NM_000374.5(UROD):c.158A>G (p.Gln53Arg) SNV Uncertain significance 741478 rs199597323 GRCh37: 1:45478832-45478832
GRCh38: 1:45013160-45013160
21 UROD NM_000374.5(UROD):c.240T>G (p.Ala80=) SNV Uncertain significance 874338 GRCh37: 1:45478990-45478990
GRCh38: 1:45013318-45013318
22 UROD NM_000374.5(UROD):c.383C>A (p.Ala128Asp) SNV Uncertain significance 874339 GRCh37: 1:45479372-45479372
GRCh38: 1:45013700-45013700
23 UROD NM_000374.5(UROD):c.390G>T (p.Glu130Asp) SNV Uncertain significance 874340 GRCh37: 1:45479379-45479379
GRCh38: 1:45013707-45013707
24 UROD NM_000374.5(UROD):c.442C>T (p.Arg148Cys) SNV Uncertain significance 874341 GRCh37: 1:45479431-45479431
GRCh38: 1:45013759-45013759
25 UROD NM_000374.5(UROD):c.463G>A (p.Ala155Thr) SNV Uncertain significance 874342 GRCh37: 1:45479452-45479452
GRCh38: 1:45013780-45013780
26 UROD NM_000374.5(UROD):c.561T>C (p.Ala187=) SNV Uncertain significance 875264 GRCh37: 1:45479667-45479667
GRCh38: 1:45013995-45013995
27 UROD NM_000374.5(UROD):c.578G>A (p.Arg193His) SNV Uncertain significance 875265 GRCh37: 1:45479684-45479684
GRCh38: 1:45014012-45014012
28 UROD NM_000374.5(UROD):c.679C>G (p.Gln227Glu) SNV Uncertain significance 875266 GRCh37: 1:45480153-45480153
GRCh38: 1:45014481-45014481
29 UROD NM_000374.5(UROD):c.745C>T (p.Arg249Trp) SNV Uncertain significance 875267 GRCh37: 1:45480219-45480219
GRCh38: 1:45014547-45014547
30 UROD NM_000374.5(UROD):c.774+12G>A SNV Uncertain significance 876224 GRCh37: 1:45480260-45480260
GRCh38: 1:45014588-45014588
31 UROD NM_000374.5(UROD):c.474+15G>C SNV Uncertain significance 297460 rs369108963 GRCh37: 1:45479478-45479478
GRCh38: 1:45013806-45013806
32 UROD NM_000374.5(UROD):c.*45C>T SNV Uncertain significance 297464 rs371078664 GRCh37: 1:45481215-45481215
GRCh38: 1:45015543-45015543
33 UROD NM_000374.5(UROD):c.738C>T (p.Ala246=) SNV Uncertain significance 297462 rs757178659 GRCh37: 1:45480212-45480212
GRCh38: 1:45014540-45014540
34 UROD NM_000374.5(UROD):c.952G>A (p.Gly318Arg) SNV Likely benign 876225 GRCh37: 1:45481018-45481018
GRCh38: 1:45015346-45015346
35 UROD NM_000374.5(UROD):c.450G>A (p.Pro150=) SNV Likely benign 297459 rs2234479 GRCh37: 1:45479439-45479439
GRCh38: 1:45013767-45013767
36 UROD NM_000374.5(UROD):c.*3G>A SNV Likely benign 255960 rs74349352 GRCh37: 1:45481173-45481173
GRCh38: 1:45015501-45015501
37 UROD NM_000374.5(UROD):c.603A>G (p.Pro201=) SNV Benign 255961 rs2228084 GRCh37: 1:45479709-45479709
GRCh38: 1:45014037-45014037

Expression for Familial Porphyria Cutanea Tarda

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

Pathways for Familial Porphyria Cutanea Tarda

GO Terms for Familial Porphyria Cutanea Tarda

Sources for Familial Porphyria Cutanea Tarda

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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