MCID: PRP091
MIFTS: 30

Porphyria Cutanea Tarda, Type I

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin 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 58 70
Porphyria Cutanea Tarda Type I 58
Pct, 'sporadic' Type 57
Pct, Type I 57

Characteristics:

Orphanet epidemiological data:

58
sporadic porphyria cutanea tarda
Inheritance: Multigenic/multifactorial;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
heterogeneous
autosomal dominant


HPO:

31
porphyria cutanea tarda, type i:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 176090
ICD10 via Orphanet 33 E80.1
UMLS via Orphanet 71 C1867968
Orphanet 58 ORPHA443057
MedGen 41 C1867968
UMLS 70 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) (Updated 20-May-2021)

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 and skin, and related phenotypes are hepatic fibrosis and eczema

Related Diseases for Porphyria Cutanea Tarda, Type I

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

Human phenotypes related to Porphyria Cutanea Tarda, Type I:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hepatic fibrosis 31 HP:0001395
2 eczema 31 HP:0000964
3 hypertrichosis 31 HP:0000998
4 fragile skin 31 HP:0001030
5 hyperpigmentation of the skin 31 HP:0000953
6 porphyrinuria 31 HP:0010473
7 alcoholism 31 HP:0030955

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G I:
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 (Updated 20-May-2021)

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

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:

40
Liver, Skin

Publications for Porphyria Cutanea Tarda, Type I

Articles related to Porphyria Cutanea Tarda, Type I:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. 61 57
11069625 2000
2
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. 57 61
9918132 1998
3
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. 57 61
9024376 1997
4
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. 61 57
661926 1978
5
Genetic aspects of porphyria cutanea tarda. 57
17295179 2007
6
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. 57
11260010 2001
7
Heterogeneity of familial porphyria cutanea tarda. 57
3225822 1988
8
Synergism of iron and hexachlorobenzene inhibits hepatic uroporphyrinogen decarboxylase in inbred mice. 57
6626162 1983
9
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda. 57
7062951 1982
10
Familial and sporadic porphyria cutanea: two different diseases. 57
730158 1978
11
An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. 57
993332 1976
12
Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis. 61
32309465 2019
13
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. 61
29416446 2018
14
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). 61
29641722 2018
15
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). 61
33272475 2018
16
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. 61
28884440 2017
17
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. 61
28776562 2017
18
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. 61
27661980 2016
19
Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. 61
24630799 2014
20
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. 61
23894244 2013
21
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. 61
21929532 2012
22
Human herpesvirus-6 as an inducer of porphyria cutanea tarda: implications from a case. 61
20487413 2010
23
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda. 61
20163457 2010
24
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. 61
20517178 2010
25
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. 61
19233912 2009
26
Porphyria in Switzerland, 15 years experience. 61
19350426 2009
27
Hepatitis C virus infection was not found in patients with sporadic porphyria cutanea tarda, membranoproliferative glomerulonephritis or membranous glomerulonephritis in Northern Norway. 61
19266396 2009
28
Type I (sporadic) porphyria cutanea tarda in a hemodialysis patient: a case report. 61
18837769 2008
29
Porphyria cutanea tarda and liver disease. A retrospective analysis of 17 cases from a single centre and review of the literature. 61
18720935 2008
30
Sporadic porphyria cutanea tarda due to haemochromatosis. 61
16990695 2006
31
Haemochromatosis gene mutations and response to chloroquine in sporadic porphyria cutanea tarda. 61
16710604 2006
32
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area. 61
15788010 2005
33
Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. 61
15740492 2005
34
Autoantibodies in sporadic porphyria cutanea tarda. 61
12811577 2003
35
[Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia]. 61
12942784 2003
36
New reasons for an archaic treatment: phlebotomy in sporadic porphyria cutanea tarda. 61
12622638 2003
37
Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. 61
12735639 2003
38
[Sporadic porphyria cutanea tarda: a case report in a Moroccan man]. 61
12910660 2003
39
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. 61
12508966 2002
40
The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage. 61
12426626 2002
41
Uroporphyria in mice: thresholds for hepatic CYP1A2 and iron. 61
11915039 2002
42
Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. 61
11854449 2002
43
Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). 61
11929045 2002
44
[Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of dual porphyria]. 61
11831056 2002
45
Autoantibodies to human cytosol: a marker of sporadic porphyria cutanea tarda. 61
11678898 2001
46
Porphyria cutanea tarda and melioidosis. 61
11514757 2001
47
Protection of the Cyp1a2(-/-) null mouse against uroporphyria and hepatic injury following exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin. 61
11384210 2001
48
Hepatitis C and D, retroviruses and autoimmune manifestations. 61
11334493 2001
49
[Extrahepatic manifestations of hepatitis C virus]. 61
10705902 2000
50
Inherited disorders of iron metabolism. 61
10084283 1999

Variations for Porphyria Cutanea Tarda, Type I

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UROD NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) SNV Likely pathogenic 71 rs121918061 GRCh37: 1:45480668-45480668
GRCh38: 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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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