FPCT
MCID: PRP003
MIFTS: 67

Porphyria Cutanea Tarda (FPCT)

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

Aliases & Classifications for Porphyria Cutanea Tarda

MalaCards integrated aliases for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 56 12 74 52 58 29 13 54 6 43 15 39 71 32
Hepatoerythropoietic Porphyria 12 74 24 52 58 73 29 6 15 71
Uroporphyrinogen Decarboxylase Deficiency 56 73 71
Familial Porphyria Cutanea Tarda 58 73 71
Hep 52 58 73
Porphyria Cutanea Tarda, Susceptibility to 56 6
Porphyria, Hepatoerythropoietic 56 43
Porphyria Cutanea Tarda Type Ii 58 73
Urod Deficiency 56 73
Pct 56 58
Porphyria Cutanea Tarda, Type Ii 56
Porphyria, Hepatocutaneous Type 56
Porphyria Hepatocutaneous Type 73
Pct, 'familial' Type 56
Porphyria, Hepatic 52
Pct, Type Ii 56
Pct Type Ii 73
Fpct 73

Characteristics:

Orphanet epidemiological data:

58
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;
hepatoerythropoietic porphyria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
more common in men than women
most common form of porphyria
three types of pct: type i sporadic, presents in adults: types ii and iii familial, presents in childhood
sporadic or acquired pct precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons
hepatoerythropoietic porphyria (hep, ) is a severe infantile form due to homozygous pct


HPO:

31

Classifications:

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


External Ids:

Disease Ontology 12 DOID:3132 DOID:5230
OMIM 56 176100
SNOMED-CT 67 61860000
ICD10 32 E80.1
MESH via Orphanet 44 D017119 D017121
ICD10 via Orphanet 33 E80.1 E80.2
UMLS via Orphanet 72 C0162566 C0162569 C0268324
UMLS 71 C0162566 C0162569 C0268323 more

Summaries for Porphyria Cutanea Tarda

UniProtKB/Swiss-Prot : 73 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 porphyria cutanea tarda, type i and familial porphyria cutanea tarda. An important gene associated with Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways/superpathways are Insulin receptor recycling and Porphyrin and chlorophyll metabolism. The drugs Prednisone and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and kidney, and related phenotypes are hemolytic anemia and abnormal blistering of the skin

Disease Ontology : 12 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.

NIH Rare Diseases : 52 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 .

OMIM : 56 Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980). De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (176090), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al., 2007). (176100)

Wikipedia : 74 Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both... more...

GeneReviews: NBK169003

Related Diseases for Porphyria Cutanea Tarda

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 465)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 35.6 UROD HFE
2 familial porphyria cutanea tarda 35.3 UROD HFE
3 alcohol use disorder 31.7 TF HFE ALB
4 liver cirrhosis 31.3 TF HFE CYP1A2 ALB
5 siderosis 31.0 UROD TFRC TFR2 TF SLC40A1 HJV
6 hypertrichosis 31.0 UROS UROD PPOX HFE
7 cicatricial ectropion 30.8 UROS UROD
8 polycythemia 30.7 TFRC HAMP EPO
9 coproporphyria, hereditary 30.5 UROS UROD PPOX HMBS FECH CPOX
10 thalassemia 30.4 TFRC TFR2 TF SLC40A1 HJV HFE
11 chronic kidney disease 30.3 TF HAMP EPO ALB
12 myelodysplastic syndrome 30.3 TFRC HFE HAMP EPO ALB
13 testicular yolk sac tumor 30.3 TF HPX
14 beta-thalassemia 30.2 TFRC TFR2 TF HJV HFE HAMP
15 porphyria, acute intermittent 30.2 UROS UROD PPOX HPX HMBS FECH
16 wilson disease 30.1 TFRC HFE ALB
17 inherited metabolic disorder 30.0 TFR2 HJV HFE HAMP FECH ALB
18 hemochromatosis, type 3 29.9 TFRC TFR2 SLC40A1 HJV HFE HAMP
19 hemolytic anemia 29.8 UROS TFRC TF HPX EPO CPOX
20 hemosiderosis 29.7 UROD TFRC TFR2 TF SLC40A1 HJV
21 iron metabolism disease 29.6 TFRC TFR2 TF SLC40A1 HJV HFE
22 porphyria, congenital erythropoietic 29.3 UROS UROD HMBS FECH CPOX ALAD
23 malaria 29.2 TFRC HMBS HAMP EPO ALB ALAD
24 hemochromatosis, type 1 28.8 UROD TFRC TFR2 TF SLC40A1 HJV
25 variegate porphyria 28.5 UROS UROD PPOX HMBS HFE FECH
26 porphyria 28.4 UROS UROD TFRC TFR2 TF SLC40A1
27 cutaneous porphyria 28.4 UROS UROD PPOX HMBS HFE FECH
28 protoporphyria, erythropoietic, 1 28.3 UROS UROD TFRC PPOX HMBS FECH
29 acute porphyria 27.7 UROS UROD PPOX HMBS HFE HAMP
30 deficiency anemia 27.5 TFRC TFR2 TF SLC40A1 HJV HFE
31 fanconi syndrome 11.2
32 hepatitis c 11.2
33 rare hereditary hemochromatosis 11.1
34 hepatitis c virus 11.1
35 liver disease 10.9
36 systemic scleroderma 10.9
37 dowling-degos disease 1 10.9
38 immune deficiency disease 10.9
39 hepatitis 10.9
40 lupus erythematosus 10.9
41 alcohol dependence 10.8
42 skin disease 10.7
43 hepatocellular carcinoma 10.7
44 acquired immunodeficiency syndrome 10.7
45 hepatoblastoma 10.7
46 viral hepatitis 10.7
47 systemic lupus erythematosus 10.7
48 kidney disease 10.7
49 end stage renal failure 10.7
50 chronic hepatic porphyria 10.7

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



Diseases related to Porphyria Cutanea Tarda

Symptoms & Phenotypes for Porphyria Cutanea Tarda

Human phenotypes related to Porphyria Cutanea Tarda:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001878
2 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
4 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000992
5 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
6 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
7 thin skin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
8 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
9 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
10 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
11 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
12 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
13 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
14 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
15 atypical scarring of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000987
16 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
17 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
18 alopecia 31 HP:0001596
19 scleroderma 31 HP:0100324
20 onycholysis 31 HP:0001806
21 facial hypertrichosis 31 HP:0002219
22 fragile skin 31 HP:0001030
23 hyperpigmentation in sun-exposed areas 31 HP:0005586

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
alopecia
facial hypertrichosis

Neoplasia:
increased incidence of hepatocellular carcinoma

Skin Nails Hair Nails:
fingernail onycholysis

Skin Nails Hair Skin:
hyperpigmentation in sun-exposed areas
photosensitivity
mechanically fragile skin
blisters in sun-exposed areas
pseudoscleroderma

Abdomen Liver:
hepatic hemosiderosis
hepatic cirrhosis
liver biopsy shows red autofluorescence and needle-like cytoplasmic inclusion bodies

Laboratory Abnormalities:
reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

Clinical features from OMIM:

176100

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.29 CYBRD1 TFRC
2 Decreased viability GR00381-A-1 10.29 HMBS PPOX TFR2 UROD UROS
3 Decreased viability GR00402-S-2 10.29 ALAD ALAS2 ALB CPOX CYBRD1 CYP1A2
4 no effect GR00402-S-1 9.96 ALAD ALAS2 ALB CPOX CYBRD1 CYP1A2
5 Reduced mammosphere formation GR00396-S 9.17 ALAD ALB HFE PPOX TFR2 TFRC

MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ALAD ALAS2 ALB CPOX CYBRD1 CYP1A2
2 hematopoietic system MP:0005397 10.15 ALAS2 CPOX EPO FECH HFE HJV
3 immune system MP:0005387 10.03 ALB CPOX EPO FECH HFE HJV
4 liver/biliary system MP:0005370 9.97 ALB CYBRD1 CYP1A2 EPO FECH HFE
5 mortality/aging MP:0010768 9.89 ALAD ALAS2 ALB CPOX CYP1A2 EPO
6 renal/urinary system MP:0005367 9.17 ALB HJV HMBS HPX PPOX SLC40A1

Drugs & Therapeutics for Porphyria Cutanea Tarda

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
3
Azathioprine Approved Phase 4 446-86-6 2265
4 Anti-Infective Agents Phase 4
5 Antiparasitic Agents Phase 4
6 Antiprotozoal Agents Phase 4
7 Antimalarials Phase 4
8 Antirheumatic Agents Phase 4
9 Hormone Antagonists Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antimetabolites Phase 4
12 glucocorticoids Phase 4
13 Hormones Phase 4
14 Immunologic Factors Phase 4
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4
16 Analgesics, Non-Narcotic Phase 4
17 Chloroquine diphosphate Phase 4 50-63-5
18 Antineoplastic Agents, Hormonal Phase 4
19 Immunosuppressive Agents Phase 4
20 Anthelmintics Phase 4
21 Analgesics Phase 4
22
Iron Approved, Experimental Phase 3 7439-89-6, 15438-31-0 23925 27284
23
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
24 Chelating Agents Phase 3
25 Iron Chelating Agents Phase 3
26
Hydroxychloroquine Approved Phase 2 118-42-3 3652
27
Ledipasvir Approved Phase 2 1256388-51-8 67505836
28
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
29 Antiviral Agents Phase 2
30 Ledipasvir, sofosbuvir drug combination Phase 2
31
Ribavirin Approved 36791-04-5 37542
32
Betamethasone Approved, Vet_approved 378-44-9 9782
33
Isoniazid Approved, Investigational 54-85-3 3767
34
Aminolevulinic acid Approved 106-60-5 137
35
Protoporphyrin IX Experimental 553-12-8
36 Anti-Asthmatic Agents
37 Betamethasone benzoate
38 Betamethasone Valerate 2152-44-5
39 Respiratory System Agents
40 Betamethasone sodium phosphate
41 Betamethasone-17,21-dipropionate
42 Hypolipidemic Agents
43 Antitubercular Agents
44 Dermatologic Agents
45 Photosensitizing Agents
46 Lipid Regulating Agents
47 Anti-Bacterial Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
2 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
3 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
4 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
5 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Recruiting NCT01573754 Phase 2 Hydroxychloroquine
6 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
7 Pattern of Skin Manifestations in Chronic Hepatitis c Virus Patients Before and After Direct Acting Anti Viral Drugs: Prospective Controlled Clinical Trial Unknown status NCT03170076
8 Randomized Controlled Study of Off-Label Use of Ribavirin in Management of Mucocutaneous Extrahepatic Manifestations of HCV Infection Unknown status NCT02261662 Ribavirin;Betamethasone
9 “Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus” Completed NCT00213772
10 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
11 Quantification of the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients With Erythropoietic Protoporphyria Terminated NCT01550705 Isoniazid
12 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Hydroxychloroquine
Hydroxychloroquine Sulfate

Cochrane evidence based reviews: porphyria cutanea tarda

Genetic Tests for Porphyria Cutanea Tarda

Genetic tests related to Porphyria Cutanea Tarda:

# Genetic test Affiliating Genes
1 Porphyria Cutanea Tarda 29
2 Hepatoerythropoietic Porphyria 29

Anatomical Context for Porphyria Cutanea Tarda

MalaCards organs/tissues related to Porphyria Cutanea Tarda:

40
Liver, Skin, Kidney, Breast, Bone, Myeloid, Testes

Publications for Porphyria Cutanea Tarda

Articles related to Porphyria Cutanea Tarda:

(show top 50) (show all 2082)
# Title Authors PMID Year
1
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 54 61 24 56 6
9792863 1998
2
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 54 61 56 6
8644733 1996
3
Identification of a new mutation responsible for hepatoerythropoietic porphyria. 54 61 56 6
1905636 1991
4
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. 54 61 24 6
1634232 1992
5
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. 61 56 6
2920211 1989
6
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. 61 56 6
3775362 1986
7
Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients. 61 24 56
463934 1979
8
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. 54 61 6
19419417 2009
9
Genetic aspects of porphyria cutanea tarda. 54 61 56
17295179 2007
10
Association of porphyria cutanea tarda with hereditary hemochromatosis. 54 61 6
15280838 2004
11
HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. 54 61 56
11260010 2001
12
A mouse model of familial porphyria cutanea tarda. 54 61 56
11134514 2001
13
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. 54 61 56
11153915 2000
14
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. 54 61 56
11069625 2000
15
C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria. 54 61 56
10610354 1999
16
Extremely rare association of HFE mutations with porphyria cutanea tarda in Japanese patients. 54 61 56
10610355 1999
17
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. 54 61 6
7706766 1995
18
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 54 61 6
2243121 1990
19
Hepatoerythropoietic Porphyria 61 6
24175354 2013
20
Familial Porphyria Cutanea Tarda 61 6
23741761 2013
21
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. 54 61 24
19233912 2009
22
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 54 61 24
17360334 2007
23
Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. 61 56
12622622 2003
24
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. 54 61 24
11855561 2002
25
A zebrafish model for hepatoerythropoietic porphyria. 61 56
9806541 1998
26
Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda. 61 56
9132598 1997
27
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. 61 6
9024376 1997
28
Hepatoerythropoietic porphyria in a woman with short stature and deformed hands. 61 56
1442894 1992
29
Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives. 61 56
3369447 1988
30
Manifestation of familial porphyria cutanea tarda after childbirth. 61 56
3348969 1988
31
Familial porphyria cutanea tarda: hybridization analysis of the uroporphyrinogen decarboxylase locus. 61 56
2906904 1988
32
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda. 61 6
2892774 1988
33
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. 61 56
3821794 1987
34
Treatment of hemodialysis-related porphyria cutanea tarda with deferoxamine. 61 56
3808000 1987
35
Heterozygosity for HLA-linked hemochromatosis as a likely cause of the hepatic siderosis associated with sporadic porphyria cutanea tarda. 61 56
3979748 1985
36
Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. 61 56
6375356 1984
37
Immunoreactive uroporphyrinogen decarboxylase in porphyria cutanea tarda. 61 56
6134095 1983
38
Coexistent variegate porphyria and porphyria cutanea tarda. 61 56
7078623 1982
39
Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda. 61 56
7062951 1982
40
The enzymatic defect in porphyria cutanea tarda. 61 56
7062954 1982
41
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? 61 56
6112327 1981
42
[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]. 61 56
7472211 1981
43
The pathology of the liver in porphyria cutanea tarda. 61 56
6253381 1980
44
Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase. 61 56
7428280 1980
45
Hepatoerythropoietic porphyria. 61 56
7369748 1980
46
Two forms of porphyria cutanea tarda. 61 56
758588 1979
47
Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. 61 56
703786 1978
48
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. 61 56
661926 1978
49
Porphyria cutanea tarda in three generations of a single family. 61 56
622106 1978
50
Inheritance of porphyria cutanea tarda. Analysis of 14 cases in 5 families. 61 56
603745 1977

Variations for Porphyria Cutanea Tarda

ClinVar genetic disease variations for Porphyria Cutanea Tarda:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UROD NM_000374.5(UROD):c.842G>T (p.Gly281Val)SNV Pathogenic 65 rs121918057 1:45480475-45480475 1:45014803-45014803
2 UROD NM_000374.5(UROD):c.842G>A (p.Gly281Glu)SNV Pathogenic 66 rs121918057 1:45480475-45480475 1:45014803-45014803
3 UROD NM_000374.5(UROD):c.636+1G>CSNV Pathogenic 67 rs145195562 1:45479743-45479743 1:45014071-45014071
4 UROD NM_000374.5(UROD):c.499G>A (p.Glu167Lys)SNV Pathogenic 68 rs121918058 1:45479605-45479605 1:45013933-45013933
5 UROD NM_000374.5(UROD):c.874C>G (p.Arg292Gly)SNV Pathogenic 69 rs121918059 1:45480507-45480507 1:45014835-45014835
6 UROD NM_000374.5(UROD):c.185C>T (p.Pro62Leu)SNV Pathogenic 70 rs121918060 1:45478859-45478859 1:45013187-45013187
7 UROD NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)SNV Pathogenic 71 rs121918061 1:45480668-45480668 1:45014996-45014996
8 UROD NM_000374.5(UROD):c.942G>A (p.Glu314=)SNV Pathogenic 72 rs121918062 1:45480678-45480678 1:45015006-45015006
9 UROD NM_000374.5(UROD):c.494T>G (p.Met165Arg)SNV Pathogenic 73 rs121918063 1:45479600-45479600 1:45013928-45013928
10 UROD NM_000374.5(UROD):c.583C>T (p.Leu195Phe)SNV Pathogenic 74 rs121918064 1:45479689-45479689 1:45014017-45014017
11 UROD NM_000374.5(UROD):c.912C>A (p.Asn304Lys)SNV Pathogenic 75 rs121918065 1:45480648-45480648 1:45014976-45014976
12 UROD NM_000374.5(UROD):c.995G>A (p.Arg332His)SNV Pathogenic 76 rs121918066 1:45481061-45481061 1:45015389-45015389
13 UROD NM_000374.5(UROD):c.6_15del (p.Glu2fs)deletion Pathogenic 64678 rs397514764 1:45477943-45477952 1:45012271-45012280
14 UROD NM_000374.5(UROD):c.346C>T (p.Gln116Ter)SNV Pathogenic 64679 rs397514765 1:45479335-45479335 1:45013663-45013663
15 UROD NM_000374.5(UROD):c.578G>C (p.Arg193Pro)SNV Pathogenic 254172 rs143823335 1:45479684-45479684 1:45014012-45014012
16 UROD NM_000374.5(UROD):c.904C>T (p.Gln302Ter)SNV Pathogenic 801474 1:45480640-45480640 1:45014968-45014968
17 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp)SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951
18 UROD NM_000374.5(UROD):c.450G>A (p.Pro150=)SNV Conflicting interpretations of pathogenicity 297459 rs2234479 1:45479439-45479439 1:45013767-45013767
19 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913
20 UROD NM_000374.5(UROD):c.758T>A (p.Leu253Gln)SNV Conflicting interpretations of pathogenicity 297463 rs36033115 1:45480232-45480232 1:45014560-45014560
21 UROD NM_000374.4(UROD):c.-67G>ASNV Uncertain significance 297454 rs767012968 1:45477871-45477871 1:45012199-45012199
22 UROD NM_000374.5(UROD):c.-57dupduplication Uncertain significance 297455 rs777548921 1:45477875-45477876 1:45012203-45012204
23 UROD NM_000374.5(UROD):c.*45C>TSNV Uncertain significance 297464 rs371078664 1:45481215-45481215 1:45015543-45015543
24 UROD NM_000374.4(UROD):c.-52C>ASNV Uncertain significance 297456 rs41269103 1:45477886-45477886 1:45012214-45012214
25 HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys)SNV Uncertain significance 11 rs1800730 6:26091185-26091185 6:26090957-26090957
26 UROD NM_000374.5(UROD):c.-1C>TSNV Uncertain significance 297458 rs886046364 1:45477937-45477937 1:45012265-45012265
27 UROD NM_000374.5(UROD):c.693G>A (p.Lys231=)SNV Uncertain significance 297461 rs143180539 1:45480167-45480167 1:45014495-45014495
28 UROD NM_000374.4(UROD):c.-51T>CSNV Uncertain significance 297457 rs370067756 1:45477887-45477887 1:45012215-45012215
29 UROD NM_000374.5(UROD):c.474+15G>CSNV Uncertain significance 297460 rs369108963 1:45479478-45479478 1:45013806-45013806
30 UROD NM_000374.5(UROD):c.738C>T (p.Ala246=)SNV Uncertain significance 297462 rs757178659 1:45480212-45480212 1:45014540-45014540
31 UROD NM_000374.4(UROD):c.*80A>GSNV Uncertain significance 297465 rs144315045 1:45481250-45481250 1:45015578-45015578
32 UROD NM_000374.5(UROD):c.-134T>GSNV Likely benign 368874 rs7536892 1:45477804-45477804 1:45012132-45012132
33 UROD NM_000374.5(UROD):c.*3G>ASNV Likely benign 255960 rs74349352 1:45481173-45481173 1:45015501-45015501
34 UROD NM_000374.5(UROD):c.603A>G (p.Pro201=)SNV Benign/Likely benign 255961 rs2228084 1:45479709-45479709 1:45014037-45014037

UniProtKB/Swiss-Prot genetic disease variations for Porphyria Cutanea Tarda:

73 (show all 36)
# Symbol AA change Variation ID SNP ID
1 UROD p.Glu167Lys VAR_007714 rs121918058
2 UROD p.Gly281Glu VAR_007715 rs121918057
3 UROD p.Gly281Val VAR_007716 rs121918057
4 UROD p.Arg292Gly VAR_007717 rs121918059
5 UROD p.Ala80Gly VAR_007910 rs776907084
6 UROD p.Met165Arg VAR_007911 rs121918063
7 UROD p.Leu195Phe VAR_007912 rs121918064
8 UROD p.Leu253Gln VAR_007913 rs36033115
9 UROD p.Asn304Lys VAR_007914 rs121918065
10 UROD p.Gly318Arg VAR_007915 rs116233118
11 UROD p.Arg332His VAR_007916 rs121918066
12 UROD p.Ile334Thr VAR_007917
13 UROD p.Pro62Leu VAR_009103 rs121918060
14 UROD p.Val134Gln VAR_009104
15 UROD p.His220Pro VAR_009105
16 UROD p.Phe229Leu VAR_009106
17 UROD p.Tyr311Cys VAR_009107 rs121918061
18 UROD p.Met324Thr VAR_009108 rs763746230
19 UROD p.Arg142Gln VAR_010985 rs118223484
20 UROD p.Leu161Gln VAR_010986
21 UROD p.Ser219Phe VAR_010987 rs982293378
22 UROD p.Pro235Ser VAR_010988 rs141312224
23 UROD p.Gly25Glu VAR_022567 rs764268015
24 UROD p.Phe46Leu VAR_022568 rs769378741
25 UROD p.Ala80Ser VAR_022569 rs376921379
26 UROD p.Arg144Pro VAR_022570
27 UROD p.Gly156Asp VAR_022571 rs762617943
28 UROD p.Arg193Pro VAR_022572 rs143823335
29 UROD p.Leu216Gln VAR_022573
30 UROD p.Glu218Lys VAR_022574
31 UROD p.Phe232Leu VAR_022575
32 UROD p.Ile260Thr VAR_022576 rs148345983
33 UROD p.Leu282Arg VAR_022577
34 UROD p.Gly303Ser VAR_022578 rs964670864
35 UROD p.Gly168Arg VAR_065558
36 UROD p.Gly170Asp VAR_065559

Expression for Porphyria Cutanea Tarda

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

Pathways for Porphyria Cutanea Tarda

GO Terms for Porphyria Cutanea Tarda

Cellular components related to Porphyria Cutanea Tarda according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 TFRC TF HPX HJV HFE HAMP
2 cell GO:0005623 9.65 TFRC TFR2 TF SLC40A1 HPX HJV
3 blood microparticle GO:0072562 9.56 TFRC TF HPX ALB
4 recycling endosome GO:0055037 9.54 TFRC TF HFE
5 basal part of cell GO:0045178 9.32 TF HFE
6 HFE-transferrin receptor complex GO:1990712 9.02 TFRC TFR2 TF HJV HFE

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.91 TFRC TFR2 HPX ALB
2 response to ethanol GO:0045471 9.81 HAMP FECH ALAD
3 acute-phase response GO:0006953 9.8 TFR2 HFE HAMP EPO
4 iron ion homeostasis GO:0055072 9.8 TFR2 TF SLC40A1 HJV HFE
5 response to iron ion GO:0010039 9.8 TFR2 HFE HAMP CYBRD1 CPOX ALAD
6 protoporphyrinogen IX biosynthetic process GO:0006782 9.8 UROS UROD PPOX HMBS CPOX ALAS2
7 transferrin transport GO:0033572 9.78 TFRC TFR2 TF HFE
8 response to lead ion GO:0010288 9.73 FECH CPOX ALAD
9 iron ion transport GO:0006826 9.73 TFRC TFR2 TF SLC40A1
10 response to arsenic-containing substance GO:0046685 9.72 FECH CPOX ALAD
11 multicellular organismal iron ion homeostasis GO:0060586 9.71 SLC40A1 HFE HAMP
12 response to methylmercury GO:0051597 9.7 FECH CPOX ALAD
13 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
14 cellular response to iron ion GO:0071281 9.69 TFR2 TF HFE
15 tetrapyrrole biosynthetic process GO:0033014 9.67 UROS HMBS ALAS2 ALAD
16 response to vitamin A GO:0033189 9.65 HAMP EPO
17 positive regulation of bone resorption GO:0045780 9.64 TFRC TF
18 response to inorganic substance GO:0010035 9.63 CPOX ALAD
19 positive regulation of peptide hormone secretion GO:0090277 9.63 TFR2 HFE
20 response to platinum ion GO:0070541 9.63 UROS FECH ALAD
21 iron ion transmembrane transport GO:0034755 9.62 TF SLC40A1
22 response to insecticide GO:0017085 9.62 FECH CPOX
23 hemoglobin biosynthetic process GO:0042541 9.61 EPO ALAS2
24 porphyrin-containing compound metabolic process GO:0006778 9.6 CYP1A2 ALAS2
25 heme metabolic process GO:0042168 9.59 UROD HPX
26 response to iron ion starvation GO:1990641 9.58 HFE HAMP
27 protoporphyrinogen IX metabolic process GO:0046501 9.58 PPOX FECH
28 regulation of iron ion transport GO:0034756 9.57 TF HFE
29 heme biosynthetic process GO:0006783 9.56 UROS UROD PPOX HMBS FECH CPOX
30 cellular iron ion homeostasis GO:0006879 9.32 TFRC TFR2 TF SLC40A1 HPX HJV

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.35 UROS UROD FECH CYP1A2 ALAD
2 co-receptor binding GO:0039706 9.32 TFR2 HFE
3 transferrin transmembrane transporter activity GO:0033570 9.26 TFRC TFR2
4 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
5 transferrin receptor binding GO:1990459 8.8 TF HJV HFE

Sources for Porphyria Cutanea Tarda

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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