MCID: PRP091
MIFTS: 33

Porphyria Cutanea Tarda, Type I

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

Aliases & Classifications for Porphyria Cutanea Tarda, Type I

MalaCards integrated aliases for Porphyria Cutanea Tarda, Type I:

Name: Porphyria Cutanea Tarda, Type I 57 29 6
Sporadic Porphyria Cutanea Tarda 59 73
Porphyria Cutanea Tarda Type I 59
Pct, 'sporadic' Type 57
Pct, Type I 57

Characteristics:

Orphanet epidemiological data:

59
sporadic porphyria cutanea tarda
Inheritance: Multigenic/multifactorial;

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
porphyria cutanea tarda, type i:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176090
Orphanet 59 ORPHA443057
ICD10 via Orphanet 34 E80.1
UMLS via Orphanet 74 C1867968
MedGen 42 C1867968
UMLS 73 C1276127

Summaries for Porphyria Cutanea Tarda, Type I

OMIM : 57 De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007). (176090)

MalaCards based summary : Porphyria Cutanea Tarda, Type I, also known as sporadic porphyria cutanea tarda, is related to porphyria cutanea tarda and porphyria. An important gene associated with Porphyria Cutanea Tarda, Type I is UROD (Uroporphyrinogen Decarboxylase). Affiliated tissues include liver, skin and eye, and related phenotypes are hepatic fibrosis and eczema

Related Diseases for Porphyria Cutanea Tarda, Type I

Diseases in the Porphyria Cutanea Tarda family:

Porphyria Cutanea Tarda, Type I Familial Porphyria Cutanea Tarda

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda 30.2 HFE UROD
2 porphyria 30.0 HFE UROD
3 siderosis 29.3 HFE UROD
4 hemochromatosis, type 1 28.6 HFE UROD
5 hepatitis 10.4
6 hepatitis c 10.2
7 multiple sclerosis 10.1
8 hepatitis c virus 10.1
9 membranous nephropathy 10.1
10 alcohol abuse 10.1
11 glomerulonephritis 10.1
12 squamous cell carcinoma 10.1
13 membranoproliferative glomerulonephritis 10.1
14 hyperglycemia 10.1
15 type i 10.1
16 cutaneous lupus erythematosus 10.1
17 familial porphyria cutanea tarda 9.6 HFE UROD
18 acute porphyria 9.6 HFE UROD
19 porphyria variegata 9.5 HFE UROD
20 rhizomelic chondrodysplasia punctata, type 2 9.4 HFE UROD

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



Diseases related to Porphyria Cutanea Tarda, Type I

Symptoms & Phenotypes for Porphyria Cutanea Tarda, Type I

Symptoms via clinical synopsis from OMIM:

57
GI:
hepatic fibrosis

Skin:
hyperpigmentation
late adult onset light-sensitive dermatitis
blisters and chronic ulcers in sun-exposed areas
mechanically fragile skin

Lab:
increased urinary uroporphyrin
reduced liver and red cell uroporphyrinogen decarboxylase
approximately 50% level of uroporphyrinogen (uro) decarboxylase in liver in type i
50% deficient activity of uroporphyrinogen (uro) decarboxylase in many tissues in type ii
liver parenchymal cells filled with porphyrins, and fluoresce bright red in ultraviolet light

Hair:
hypertrichosis

Misc:
type i sporadic type
type ii familial type
onset often associated with alcoholism, or other agents, such as estrogens
iron overload frequent
more common in men than women
more

Clinical features from OMIM:

176090

Human phenotypes related to Porphyria Cutanea Tarda, Type I:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hepatic fibrosis 32 HP:0001395
2 eczema 32 HP:0000964
3 hyperpigmentation of the skin 32 HP:0000953
4 hypertrichosis 32 HP:0000998
5 fragile skin 32 HP:0001030
6 porphyrinuria 32 HP:0010473

GenomeRNAi Phenotypes related to Porphyria Cutanea Tarda, Type I 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 Porphyria Cutanea Tarda, Type I:

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

Drugs & Therapeutics for Porphyria Cutanea Tarda, Type I

Search Clinical Trials , NIH Clinical Center for Porphyria Cutanea Tarda, Type I

Genetic Tests for Porphyria Cutanea Tarda, Type I

Genetic tests related to Porphyria Cutanea Tarda, Type I:

# Genetic test Affiliating Genes
1 Porphyria Cutanea Tarda, Type I 29

Anatomical Context for Porphyria Cutanea Tarda, Type I

MalaCards organs/tissues related to Porphyria Cutanea Tarda, Type I:

41
Liver, Skin, Eye

Publications for Porphyria Cutanea Tarda, Type I

Articles related to Porphyria Cutanea Tarda, Type I:

(show all 29)
# Title Authors Year
1
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
2
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. ( 28776562 )
2017
3
Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. ( 24630799 )
2014
4
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. ( 23894244 )
2013
5
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. ( 21929532 )
2012
6
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. ( 20517178 )
2010
7
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda. ( 20163457 )
2010
8
Hepatitis C virus infection was not found in patients with sporadic porphyria cutanea tarda, membranoproliferative glomerulonephritis or membranous glomerulonephritis in Northern Norway. ( 19266396 )
2009
9
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. ( 19233912 )
2009
10
Type I (sporadic) porphyria cutanea tarda in a hemodialysis patient: a case report. ( 18837769 )
2008
11
Sporadic porphyria cutanea tarda due to haemochromatosis. ( 16990695 )
2006
12
Haemochromatosis gene mutations and response to chloroquine in sporadic porphyria cutanea tarda. ( 16710604 )
2006
13
Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. ( 15740492 )
2005
14
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area. ( 15788010 )
2005
15
New reasons for an archaic treatment: phlebotomy in sporadic porphyria cutanea tarda. ( 12622638 )
2003
16
Autoantibodies in sporadic porphyria cutanea tarda. ( 12811577 )
2003
17
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. ( 12735639 )
2003
18
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). ( 11929045 )
2002
19
Autoantibodies to human cytosol: a marker of sporadic porphyria cutanea tarda. ( 11678898 )
2001
20
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. ( 9918132 )
1998
21
The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda. ( 8985283 )
1997
22
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. ( 9024376 )
1997
23
Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. ( 8099886 )
1993
24
A case of cutaneous squamous cell carcinoma associated with sporadic porphyria cutanea tarda due to liver disorder after Schistosoma japonicum infection. ( 1918600 )
1991
25
HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda. ( 2789160 )
1989
26
Increased frequency of HLA-A3 in subjects with sporadic porphyria cutanea tarda. ( 3261053 )
1988
27
Sporadic porphyria cutanea tarda in individuals with HLA-linked hemochromatosis allele(s). Preliminary report. ( 3164603 )
1988
28
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda. ( 3979748 )
1985
29
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. ( 661926 )
1978

Variations for Porphyria Cutanea Tarda, Type I

ClinVar genetic disease variations for Porphyria Cutanea Tarda, Type I:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh37 Chromosome 1, 45480668: 45480668
2 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh38 Chromosome 1, 45014996: 45014996

Expression for Porphyria Cutanea Tarda, Type I

Search GEO for disease gene expression data for Porphyria Cutanea Tarda, Type I.

Pathways for Porphyria Cutanea Tarda, Type I

GO Terms for Porphyria Cutanea Tarda, Type I

Sources for Porphyria Cutanea Tarda, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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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