MCID: FML324
MIFTS: 23

Familial Porphyria Cutanea Tarda

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

Aliases & Classifications for Familial Porphyria Cutanea Tarda

MalaCards integrated aliases for Familial Porphyria Cutanea Tarda:

Name: Familial Porphyria Cutanea Tarda 24 29 6 73
Porphyria Cutanea Tarda, Type Ii 24
Porphyria Cutanea Tarda 73
Familial Pct 24
Type Ii Pct 24
F-Pct 24

Characteristics:

GeneReviews:

24
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 73 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). Related phenotypes are Reduced mammosphere formation and liver/biliary system

GeneReviews: NBK143129

Related Diseases for Familial Porphyria Cutanea Tarda

Diseases in the Porphyria Cutanea Tarda family:

Porphyria Cutanea Tarda, Type I Familial Porphyria Cutanea Tarda

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

# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda 32.6 HFE UROD
2 porphyria 30.0 HFE UROD
3 hepatitis 10.0
4 hepatitis c 10.0
5 porphyria cutanea tarda, type i 9.6 HFE UROD
6 acute porphyria 9.6 HFE UROD
7 porphyria variegata 9.5 HFE UROD
8 siderosis 9.5 HFE UROD
9 rhizomelic chondrodysplasia punctata, type 2 9.4 HFE UROD
10 hemochromatosis, type 1 9.0 HFE UROD

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

GenomeRNAi Phenotypes related to Familial Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 HFE UROD

MGI Mouse Phenotypes related to Familial Porphyria Cutanea Tarda:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.62 HFE UROD

Drugs & Therapeutics for Familial Porphyria Cutanea Tarda

Search Clinical Trials , NIH Clinical Center for Familial Porphyria Cutanea Tarda

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 all 27)
# Title Authors Year
1
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. ( 27661980 )
2016
2
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. ( 23545314 )
2013
3
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. ( 22382040 )
2012
4
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. ( 21079081 )
2010
5
Longitudinal study of a mouse model of familial porphyria cutanea tarda. ( 19656451 )
2009
6
Sclerodermatous changes of face, neck and scalp associated with familial porphyria cutanea tarda. ( 18498414 )
2008
7
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. ( 17627795 )
2007
8
A mouse model of familial porphyria cutanea tarda. ( 11134514 )
2001
9
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f- PCT). ( 11295834 )
2001
10
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. ( 10980536 )
2000
11
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. ( 10338097 )
1999
12
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. ( 9500716 )
1998
13
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. ( 9792863 )
1998
14
Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. ( 8993961 )
1996
15
Fecal coproporphyrin isomers in sporadic and familial porphyria cutanea tarda. ( 7656445 )
1995
16
A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. ( 7706766 )
1995
17
Complex pattern of alternative splicing in the normal uroporphyrinogen decarboxylase gene: implications for diagnosis of familial porphyria cutanea tarda. ( 7923766 )
1994
18
Childhood-onset familial porphyria cutanea tarda: effects of therapeutic phlebotomy. ( 1361499 )
1992
19
Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: an exception to the rule? ( 2767288 )
1989
20
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. ( 2920211 )
1989
21
Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives. ( 3369447 )
1988
22
Defective human erythrocyte uroporphyrinogen decarboxylase in familial porphyria cutanea tarda: the metabolic lesion or the result of endogenous porphyrinemia? ( 3395340 )
1988
23
Manifestation of familial porphyria cutanea tarda after childbirth. ( 3348969 )
1988
24
Heterogeneity of familial porphyria cutanea tarda. ( 3225822 )
1988
25
Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus. ( 2906904 )
1988
26
Familial porphyria cutanea tarda in a 7-year-old girl. ( 3378656 )
1988
27
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. ( 6375356 )
1984

Variations for Familial Porphyria Cutanea Tarda

ClinVar genetic disease variations for Familial Porphyria Cutanea Tarda:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 UROD NM_000374.4(UROD): c.842G> T (p.Gly281Val) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
2 UROD NM_000374.4(UROD): c.842G> T (p.Gly281Val) single nucleotide variant Pathogenic rs121918057 GRCh38 Chromosome 1, 45014803: 45014803
3 UROD NM_000374.4(UROD): c.842G> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
4 UROD NM_000374.4(UROD): c.842G> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh38 Chromosome 1, 45014803: 45014803
5 UROD NM_000374.4(UROD): c.636+1G> C single nucleotide variant Pathogenic rs145195562 GRCh38 Chromosome 1, 45014071: 45014071
6 UROD NM_000374.4(UROD): c.636+1G> C single nucleotide variant Pathogenic rs145195562 GRCh37 Chromosome 1, 45479743: 45479743
7 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh37 Chromosome 1, 45480678: 45480678
8 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh38 Chromosome 1, 45015006: 45015006
9 UROD NM_000374.4(UROD): c.494T> G (p.Met165Arg) single nucleotide variant Pathogenic rs121918063 GRCh37 Chromosome 1, 45479600: 45479600
10 UROD NM_000374.4(UROD): c.494T> G (p.Met165Arg) single nucleotide variant Pathogenic rs121918063 GRCh38 Chromosome 1, 45013928: 45013928
11 UROD NM_000374.4(UROD): c.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh37 Chromosome 1, 45479689: 45479689
12 UROD NM_000374.4(UROD): c.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh38 Chromosome 1, 45014017: 45014017
13 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh37 Chromosome 1, 45480648: 45480648
14 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh38 Chromosome 1, 45014976: 45014976
15 UROD NM_000374.4(UROD): c.995G> A (p.Arg332His) single nucleotide variant Pathogenic rs121918066 GRCh37 Chromosome 1, 45481061: 45481061
16 UROD NM_000374.4(UROD): c.995G> A (p.Arg332His) single nucleotide variant Pathogenic rs121918066 GRCh38 Chromosome 1, 45015389: 45015389
17 UROD NM_000374.4(UROD): c.578G> C (p.Arg193Pro) single nucleotide variant Pathogenic rs143823335 GRCh37 Chromosome 1, 45479684: 45479684
18 UROD NM_000374.4(UROD): c.578G> C (p.Arg193Pro) single nucleotide variant Pathogenic rs143823335 GRCh38 Chromosome 1, 45014012: 45014012

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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