MCID: PRP003
MIFTS: 64

Porphyria Cutanea Tarda

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

Aliases & Classifications for Porphyria Cutanea Tarda

MalaCards integrated aliases for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 54 12 72 50 56 29 13 52 42 14 69
Hepatoerythropoietic Porphyria 12 72 23 50 24 56 71 29 14 69
Familial Porphyria Cutanea Tarda 56 71 69
Hep 50 56 71
Uroporphyrinogen Decarboxylase Deficiency 71 69
Porphyria, Hepatoerythropoietic 54 42
Porphyria Cutanea Tarda Type Ii 56 71
Pct 72 56
Porphyria Hepatocutaneous Type 71
Porphyria, Hepatic 50
Porphyria Hepatic 52
Urod Deficiency 71
Pct Type Ii 71
Fpct 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
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
more common in men than women
hepatoerythropoietic porphyria (hep, ) is a severe infantile form due to homozygous pct


HPO:

32
porphyria cutanea tarda:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Porphyria Cutanea Tarda

UniProtKB/Swiss-Prot : 71 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 variegata and porphyria cutanea tarda, type i, and has symptoms including thin skin, hemolytic anemia and cirrhosis. An important gene associated with Porphyria Cutanea Tarda is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and HIF-1-alpha transcription factor network. The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are homeostasis/metabolism and liver/biliary system

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

NIH Rare Diseases : 50 hepatoerythropoietic porphyria (hep) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. it is the autosomal recessive form of familialporphyria 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. last updated: 10/26/2010

OMIM : 54
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 : 72 Porphyria cutanea tarda (PCT) is the most common subtype of porphyria. The disease is named because it... 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 134)
id Related Disease Score Top Affiliating Genes
1 porphyria variegata 25.9 ALAD CPOX FECH HFE HMBS PPOX
2 porphyria cutanea tarda, type i 12.7
3 familial porphyria cutanea tarda 12.5
4 porphyria 11.9
5 coproporphyria 11.6
6 porphyria, acute intermittent 11.2
7 urod-related porphyrias 11.1
8 hepatitis 10.9
9 hepatitis c 10.9
10 hepatitis c virus 10.7
11 hemochromatosis 10.7
12 lupus erythematosus 10.5
13 dermatoosteolysis, kirghizian type 10.5 HFE TF
14 leukemia 10.4
15 hereditary multiple osteochondromas 10.4 HFE HFE2
16 systemic lupus erythematosus 10.3
17 rhizomelic chondrodysplasia punctata, type 2 10.3 HAMP HFE UROD
18 harp syndrome 10.3 HFE TF
19 liver disease 10.3
20 poems syndrome 10.3 TF TFRC
21 hepatoblastoma 10.2
22 acquired immunodeficiency syndrome 10.2
23 viral hepatitis 10.2
24 subacute cutaneous lupus erythematosus 10.2
25 alopecia 10.2
26 hepatocellular carcinoma 10.2
27 cutaneous lupus erythematosus 10.2
28 siderosis 10.2
29 endometrial adenocarcinoma 10.2 HAMP HFE TF
30 glycogen storage disease ixa 10.2 HAMP HFE HFE2
31 timothy syndrome type 2 10.2 HFE TF TFRC
32 discoid lupus erythematosus 10.2
33 peritonitis 10.2
34 epidermolysis bullosa 10.2
35 squamous cell carcinoma 10.2
36 hypertrichosis 10.2
37 sickle cell anemia 10.1 HFE TF TFRC
38 posterior foramen magnum meningioma 10.1 TF TFRC
39 constrictive pericarditis 10.1
40 thalassemia 10.1
41 refractory anemia 10.1
42 arthritis 10.1
43 lymphoma 10.1
44 cholestasis 10.1
45 acute porphyria 10.1
46 myelodysplastic syndrome 10.1
47 lichen planus 10.1
48 hepatitis b 10.1
49 lymphoblastic leukemia 10.1
50 pericarditis 10.1

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



Diseases related to Porphyria Cutanea Tarda

Symptoms & Phenotypes for Porphyria Cutanea Tarda

Symptoms via clinical synopsis from OMIM:

54

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

Skin Nails & Hair- Nails:
fingernail onycholysis

Neoplasia:
increased incidence of hepatocellular carcinoma

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

Skin Nails & Hair- Hair:
facial hypertrichosis
alopecia

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


Clinical features from OMIM:

176100

Human phenotypes related to Porphyria Cutanea Tarda:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
2 hemolytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001878
3 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
4 hepatic steatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001397
5 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
6 hepatocellular carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001402
7 edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000969
8 hypopigmented skin patches 56 32 hallmark (90%) Very frequent (99-80%) HP:0001053
9 cerebral palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100021
10 skin rash 56 32 hallmark (90%) Very frequent (99-80%) HP:0000988
11 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
12 generalized hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002230
13 cutaneous photosensitivity 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000992
14 abnormal blistering of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008066
15 atypical scarring of skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000987
16 skin vesicle 56 32 hallmark (90%) Very frequent (99-80%) HP:0200037
17 hyperpigmentation of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000953
18 hyperpigmentation in sun-exposed areas 32 HP:0005586
19 facial hypertrichosis 32 HP:0002219
20 alopecia 32 HP:0001596
21 onycholysis 32 HP:0001806
22 fragile skin 32 HP:0001030
23 scleroderma 32 HP:0100324

MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 CYP1A2 FECH HFE HFE2 HMBS PPOX
2 liver/biliary system MP:0005370 9.5 TFRC UROD UROS CYP1A2 FECH HFE
3 mortality/aging MP:0010768 9.32 CYP1A2 FECH HFE HFE2 HMBS PPOX

Drugs & Therapeutics for Porphyria Cutanea Tarda

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

(show all 47)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
2
Iron Approved Phase 3,Phase 2 7439-89-6 23925
3
Colestipol Approved Phase 2, Phase 3 26658-42-4, 50925-79-6 62816
4 alpha-MSH Phase 3,Phase 2
5 Hormone Antagonists Phase 3,Phase 2
6 Hormones Phase 3,Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
8 Chelating Agents Phase 3,Phase 2
9 Iron Chelating Agents Phase 3,Phase 2
10 Antimetabolites Phase 2, Phase 3
11 Hypolipidemic Agents Phase 2, Phase 3
12 Lipid Regulating Agents Phase 2, Phase 3
13 cysteine Nutraceutical Phase 3
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Ledipasvir Approved Phase 2 1256388-51-8 67505836
16
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
17 Anti-Infective Agents Phase 2
18 Antimalarials Phase 2
19 Antiparasitic Agents Phase 2
20 Antiprotozoal Agents Phase 2
21 Antirheumatic Agents Phase 2
22 Antiviral Agents Phase 2
23 Ledipasvir, sofosbuvir drug combination Phase 2
24
Chlorpromazine Approved, Vet_approved Phase 1 50-53-3 2726
25
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
26 Antiemetics Phase 1
27 Antipsychotic Agents Phase 1
28 Autonomic Agents Phase 1
29 Central Nervous System Depressants Phase 1
30 Dopamine Agents Phase 1
31 Dopamine Antagonists Phase 1
32 Gastrointestinal Agents Phase 1
33 Neurotransmitter Agents Phase 1
34 Peripheral Nervous System Agents Phase 1
35 Psychotropic Drugs Phase 1
36 Tranquilizing Agents Phase 1
37 Liver Extracts Phase 1
38
Aminolevulinic acid Approved 106-60-5 137
39
Isoniazid Approved 54-85-3 3767
40
Protoporphyrin IX Experimental 553-12-8
41 Micronutrients
42 Trace Elements
43 Anti-Bacterial Agents
44 Antitubercular Agents
45 Dermatologic Agents
46 Photosensitizing Agents
47 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 30)

id Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
4 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
5 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
6 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
7 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
8 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
9 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2 Hydroxychloroquine
10 Harvoni Treatment Porphyria Cutanea Tarda Recruiting NCT03118674 Phase 2 Harvoni
11 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
12 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
13 A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP) Enrolling by invitation NCT02949830 Phase 1, Phase 2 ALN-AS1
14 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
15 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 ALN-AS1;Sterile Normal Saline (0.9% NaCl)
16 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
17 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
18 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
19 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
20 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
21 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
22 Longitudinal Study of the Porphyrias Recruiting NCT01561157
23 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
24 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Oral Iron
25 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Recruiting NCT01688895
26 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
27 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
28 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400 Hemin
29 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
30 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Isoniazid

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: porphyria cutanea tarda

Genetic Tests for Porphyria Cutanea Tarda

Genetic tests related to Porphyria Cutanea Tarda:

id Genetic test Affiliating Genes
1 Hepatoerythropoietic Porphyria 29 24
2 Porphyria Cutanea Tarda 29

Anatomical Context for Porphyria Cutanea Tarda

MalaCards organs/tissues related to Porphyria Cutanea Tarda:

39
Skin, Liver, Eye, Testes, Bone, Whole Blood, Myeloid

Publications for Porphyria Cutanea Tarda

Articles related to Porphyria Cutanea Tarda:

(show top 50) (show all 578)
id Title Authors Year
1
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
2
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
3
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. ( 28755733 )
2017
4
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
5
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. ( 28776562 )
2017
6
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
7
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. ( 28210512 )
2017
8
A case of porphyria cutanea tarda of the liver exhibiting multifocal macrovesicular steatosis in the background of microvesicular steatosis, probably caused by uneven iron accumulation. ( 28130583 )
2017
9
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
10
Radiation and chemotherapy with no excessive toxicity in a patient with human papillomavirus-related tonsillar cancer and porphyria cutanea tarda: Case report and literature review. ( 28815861 )
2017
11
Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. ( 28641714 )
2017
12
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
13
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? ( 27550066 )
2016
14
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. ( 26908385 )
2016
15
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. ( 27661980 )
2016
16
Porphyria cutanea tarda in a HIV- positive patient. ( 27579753 )
2016
17
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. ( 27767238 )
2016
18
Porphyria Cutanea Tarda. ( 27669078 )
2016
19
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. ( 26775575 )
2016
20
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. ( 27293254 )
2016
21
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. ( 26576928 )
2016
22
Resolution of Porphyria Cutanea Tarda in Patients With Hepatitis C Following Ledipasvir-Sofosbuvir Combination Therapy. ( 27732687 )
2016
23
Sclerodermiform porphyria cutanea tarda after torasemide. ( 26693635 )
2015
24
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. ( 26269702 )
2015
25
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
26
Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda. ( 26158360 )
2015
27
Porphyria cutanea tarda in a child with acute lymphoblastic leukemia. ( 26319705 )
2015
28
Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. ( 24630799 )
2014
29
Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda. ( 25154788 )
2014
30
Hepatitis C- and HIV-induced porphyria cutanea tarda. ( 24470839 )
2014
31
Porphyria cutanea tarda and Sjogren's syndrome. ( 25054769 )
2014
32
Porphyria cutanea tarda in a child following multi-agent chemotherapy. ( 24719070 )
2014
33
Desferrioxamine treatment of porphyria cutanea tarda in a patient with HIV and chronic renal failure. ( 24502304 )
2014
34
Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India. ( 24958988 )
2014
35
A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda. ( 24958197 )
2014
36
Ocular manifestations in porphyria cutanea tarda. ( 24811555 )
2014
37
Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1. ( 23012398 )
2013
38
Porphyria cutanea tarda in a hemodialysis patient with hepatitis C virus: efficacy of treatment with multiple phlebotomies and erythropoietin. ( 23354206 )
2013
39
Dermacase. Can you identify this condition? Porphyria cutanea tarda. ( 23851543 )
2013
40
Porphyria cutanea tarda and spherocytosis: a non-random association? ( 23093332 )
2013
41
Porphyria cutanea tarda in a hemodialysis patient. ( 22753666 )
2013
42
Images in clinical medicine. Porphyria cutanea tarda and hypertrichosis. ( 24088095 )
2013
43
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. ( 23894244 )
2013
44
Risk factors for porphyria cutanea tarda -the iron/HFE connection. ( 23121614 )
2013
45
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. ( 23582006 )
2013
46
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. ( 24068123 )
2013
47
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda. ( 24081184 )
2013
48
Is non-alcoholic steatohepatitis a predisposing factor to porphyria cutanea tarda? ( 23458397 )
2013
49
Increased serum hepcidin levels in patients with porphyria cutanea tarda. ( 22429447 )
2013
50
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

Variations for Porphyria Cutanea Tarda

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

71 (show all 36)
id 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
19 UROD p.Arg142Gln VAR_010985
20 UROD p.Leu161Gln VAR_010986
21 UROD p.Ser219Phe VAR_010987
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
29 UROD p.Leu216Gln VAR_022573
30 UROD p.Glu218Lys VAR_022574
31 UROD p.Phe232Leu VAR_022575
32 UROD p.Ile260Thr VAR_022576
33 UROD p.Leu282Arg VAR_022577
34 UROD p.Gly303Ser VAR_022578
35 UROD p.Gly168Arg VAR_065558
36 UROD p.Gly170Asp VAR_065559

ClinVar genetic disease variations for Porphyria Cutanea Tarda:

6 (show all 15)
id 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> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
3 UROD NM_000374.4(UROD): c.636+1G> C single nucleotide variant Pathogenic rs145195562 GRCh38 Chromosome 1, 45014071: 45014071
4 UROD NM_000374.4(UROD): c.499G> A (p.Glu167Lys) single nucleotide variant Pathogenic rs121918058 GRCh37 Chromosome 1, 45479605: 45479605
5 UROD NM_000374.4(UROD): c.874C> G (p.Arg292Gly) single nucleotide variant Pathogenic rs121918059 GRCh37 Chromosome 1, 45480507: 45480507
6 UROD NM_000374.4(UROD): c.185C> T (p.Pro62Leu) single nucleotide variant Pathogenic rs121918060 GRCh37 Chromosome 1, 45478859: 45478859
7 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh37 Chromosome 1, 45480668: 45480668
8 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh37 Chromosome 1, 45480678: 45480678
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.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh37 Chromosome 1, 45479689: 45479689
11 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh37 Chromosome 1, 45480648: 45480648
12 UROD NM_000374.4(UROD): c.995G> A (p.Arg332His) single nucleotide variant Pathogenic rs121918066 GRCh37 Chromosome 1, 45481061: 45481061
13 UROD NM_000374.4(UROD): c.6_15delAGCGAATGGG (p.Glu2Aspfs) deletion Pathogenic rs397514764 GRCh37 Chromosome 1, 45477943: 45477952
14 UROD NM_000374.4(UROD): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs397514765 GRCh37 Chromosome 1, 45479335: 45479335
15 UROD NM_000374.4(UROD): c.578G> C (p.Arg193Pro) single nucleotide variant Pathogenic rs143823335 GRCh37 Chromosome 1, 45479684: 45479684

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 ALAD HAMP HFE HFE2 TF TFRC
2 recycling endosome GO:0055037 9.33 HFE TF TFRC
3 basal part of cell GO:0045178 8.96 HFE TF
4 HFE-transferrin receptor complex GO:1990712 8.92 HFE HFE2 TF TFRC

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 ALAD CYP1A2 FECH PPOX
2 response to ethanol GO:0045471 9.77 ALAD FECH HAMP
3 iron ion homeostasis GO:0055072 9.71 HFE HFE2 TF
4 porphyrin-containing compound biosynthetic process GO:0006779 9.7 ALAD CPOX FECH HMBS PPOX UROD
5 transferrin transport GO:0033572 9.69 HFE TF TFRC
6 cellular iron ion homeostasis GO:0006879 9.65 HAMP HFE HFE2 TF TFRC
7 response to lead ion GO:0010288 9.63 ALAD CPOX FECH
8 response to zinc ion GO:0010043 9.62 ALAD HAMP
9 acute-phase response GO:0006953 9.62 HAMP HFE
10 response to iron ion GO:0010039 9.62 ALAD CPOX HAMP HFE
11 liver regeneration GO:0097421 9.61 HAMP HFE
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.61 HFE TF
13 response to arsenic-containing substance GO:0046685 9.61 ALAD CPOX FECH
14 response to metal ion GO:0010038 9.6 ALAD FECH
15 response to inorganic substance GO:0010035 9.58 ALAD CPOX
16 response to methylmercury GO:0051597 9.58 ALAD CPOX FECH
17 multicellular organismal iron ion homeostasis GO:0060586 9.57 HAMP HFE
18 cellular response to iron ion GO:0071281 9.56 HFE TF
19 response to insecticide GO:0017085 9.55 CPOX FECH
20 tetrapyrrole biosynthetic process GO:0033014 9.54 ALAD HMBS UROS
21 protoporphyrinogen IX metabolic process GO:0046501 9.52 FECH PPOX
22 heme biosynthetic process GO:0006783 9.5 ALAD CPOX FECH HMBS PPOX UROD
23 response to platinum ion GO:0070541 9.49 ALAD FECH
24 response to iron ion starvation GO:1990641 9.48 HAMP HFE
25 protoporphyrinogen IX biosynthetic process GO:0006782 9.1 ALAD CPOX HMBS PPOX UROD UROS

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.26 ALAD FECH UROD UROS
2 ferrous iron binding GO:0008198 9.16 FECH TF
3 transferrin receptor binding GO:1990459 8.8 HFE HFE2 TF

Sources for Porphyria Cutanea Tarda

3 CDC
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16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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