MCID: PRP003
MIFTS: 67

Porphyria Cutanea Tarda

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

Aliases & Classifications for Porphyria Cutanea Tarda

MalaCards integrated aliases for Porphyria Cutanea Tarda:

Name: Porphyria Cutanea Tarda 53 12 72 72 49 55 28 13 51 41 14 69
Hepatoerythropoietic Porphyria 12 72 23 49 55 71 28 14 69
Uroporphyrinogen Decarboxylase Deficiency 53 71 69
Familial Porphyria Cutanea Tarda 55 71 69
Hep 49 55 71
Porphyria, Hepatoerythropoietic 53 41
Porphyria Cutanea Tarda Type Ii 55 71
Urod Deficiency 53 71
Pct 53 55
Porphyria Cutanea Tarda, Susceptibility to 53
Porphyria Cutanea Tarda, Type Ii 53
Porphyria, Hepatocutaneous Type 53
Porphyria Hepatocutaneous Type 71
Uroporphyrinogen Decarboxylase 13
Pct, 'familial' Type 53
Porphyria, Hepatic 49
Porphyria Hepatic 51
Pct, Type Ii 53
Pct Type Ii 71
Fpct 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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
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 familial porphyria cutanea tarda and hemosiderosis, and has symptoms including edema, sudden cardiac death and hemolytic anemia. 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 : 49 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 : 53 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)

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 138)
# Related Disease Score Top Affiliating Genes
1 familial porphyria cutanea tarda 34.5 HFE UROD
2 hemosiderosis 30.7 HAMP HFE TF TFRC
3 siderosis 30.4 HFE TF TFRC UROD
4 thalassemia 30.2 HFE TF TFRC
5 beta-thalassemia 30.1 HAMP HFE TF TFRC
6 porphyria, acute intermittent 29.8 ALAD CPOX FECH HMBS PPOX UROD
7 hemochromatosis, type 1 29.7 HAMP HFE HFE2 TF TFRC UROD
8 liver disease 29.7 FECH HFE TF
9 cutaneous porphyria 29.4 FECH UROD UROS
10 porphyria 29.4 ALAD CPOX CYP1A2 FECH HFE HMBS
11 protoporphyria, erythropoietic 28.1 ALAD CPOX FECH HMBS PPOX UROS
12 porphyria, congenital erythropoietic 28.0 ALAD CPOX FECH HMBS UROD UROS
13 porphyria variegata 27.5 ALAD CPOX FECH HFE HMBS PPOX
14 coproporphyria, hereditary 27.5 ALAD CPOX FECH HMBS PPOX UROD
15 acute porphyria 27.2 ALAD CPOX FECH HFE HMBS PPOX
16 porphyria cutanea tarda, type i 12.9
17 hepatitis 11.0
18 hepatitis c 11.0
19 hepatitis c virus 10.8
20 lupus erythematosus 10.6
21 leukemia 10.5
22 systemic lupus erythematosus 10.4
23 hepatoblastoma 10.3
24 iron overload in africa 10.3 HFE TF
25 hepatocellular carcinoma 10.3
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
27 alopecia 10.3
28 diabetes mellitus 10.3
29 cutaneous lupus erythematosus 10.3
30 viral hepatitis 10.3
31 acquired immunodeficiency syndrome 10.3
32 subacute cutaneous lupus erythematosus 10.3
33 hfe-associated hereditary hemochromatosis 10.3 HFE HFE2
34 squamous cell carcinoma 10.2
35 epidermolysis bullosa 10.2
36 hypertrichosis 10.2
37 peritonitis 10.2
38 discoid lupus erythematosus 10.2
39 hyperferritinemia with or without cataract 10.2 HFE TF
40 rhizomelic chondrodysplasia punctata, type 2 10.2 HAMP HFE UROD
41 scleroderma, familial progressive 10.2
42 myelofibrosis 10.2
43 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
44 myelodysplastic syndrome 10.2
45 arthritis 10.2
46 hepatitis b 10.2
47 lymphoma 10.2
48 lymphoblastic leukemia 10.2
49 constrictive pericarditis 10.2
50 cholestasis 10.2

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:

53
Skin Nails Hair Hair:
alopecia
facial hypertrichosis

Neoplasia:
increased incidence of hepatocellular carcinoma

Skin Nails Hair Nails:
fingernail onycholysis

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

Human phenotypes related to Porphyria Cutanea Tarda:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000969
2 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
3 hemolytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001878
4 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
5 thin skin 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
6 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
7 hepatic steatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001397
8 atypical scarring of skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000987
9 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
10 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
11 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
12 skin rash 55 31 hallmark (90%) Very frequent (99-80%) HP:0000988
13 cerebral palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100021
14 cutaneous photosensitivity 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000992
15 skin vesicle 55 31 hallmark (90%) Very frequent (99-80%) HP:0200037
16 hyperpigmentation of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000953
17 hepatocellular carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001402
18 alopecia 31 HP:0001596
19 onycholysis 31 HP:0001806
20 scleroderma 31 HP:0100324
21 fragile skin 31 HP:0001030
22 facial hypertrichosis 31 HP:0002219
23 hyperpigmentation in sun-exposed areas 31 HP:0005586

MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 PPOX TF TFRC UROD UROS CYP1A2
2 liver/biliary system MP:0005370 9.5 CYP1A2 FECH HFE HFE2 TFRC UROD
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)
# 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, Investigational, 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, Investigational 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 31)

# 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 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Recruiting NCT03338816 Phase 3 Givosiran;Placebo
7 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
8 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
9 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
10 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2 Hydroxychloroquine
11 Harvoni Treatment Porphyria Cutanea Tarda Recruiting NCT03118674 Phase 2 Harvoni
12 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
13 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
14 A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
15 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
16 A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
17 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
18 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
19 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
20 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
21 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
22 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
23 Longitudinal Study of the Porphyrias Recruiting NCT01561157
24 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
25 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Oral Iron
26 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Recruiting NCT01688895
27 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
28 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
29 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
30 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
31 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 47 :


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 Hepatoerythropoietic Porphyria 28
2 Porphyria Cutanea Tarda 28

Anatomical Context for Porphyria Cutanea Tarda

MalaCards organs/tissues related to Porphyria Cutanea Tarda:

38
Skin, Liver, Eye, Testes, Breast, Myeloid, Whole Blood

Publications for Porphyria Cutanea Tarda

Articles related to Porphyria Cutanea Tarda:

(show top 50) (show all 580)
# Title Authors Year
1
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor. ( 29370566 )
2018
2
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
3
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
4
Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. ( 28641714 )
2017
5
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
6
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. ( 28755733 )
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
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
9
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
10
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
11
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
12
Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy. ( 29091216 )
2017
13
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. ( 28776562 )
2017
14
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
15
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. ( 26908385 )
2016
16
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. ( 27293254 )
2016
17
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. ( 26576928 )
2016
18
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. ( 27767238 )
2016
19
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. ( 26775575 )
2016
20
Resolution of Porphyria Cutanea Tarda in Patients With Hepatitis C Following Ledipasvir-Sofosbuvir Combination Therapy. ( 27732687 )
2016
21
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. ( 27661980 )
2016
22
Porphyria cutanea tarda in a HIV- positive patient. ( 27579753 )
2016
23
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? ( 27550066 )
2016
24
Porphyria Cutanea Tarda. ( 27669078 )
2016
25
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. ( 26269702 )
2015
26
Porphyria cutanea tarda in a child with acute lymphoblastic leukemia. ( 26319705 )
2015
27
Sclerodermiform porphyria cutanea tarda after torasemide. ( 26693635 )
2015
28
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
29
Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda. ( 26158360 )
2015
30
Ocular manifestations in porphyria cutanea tarda. ( 24811555 )
2014
31
Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India. ( 24958988 )
2014
32
Hepatitis C- and HIV-induced porphyria cutanea tarda. ( 24470839 )
2014
33
Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda. ( 25154788 )
2014
34
Porphyria cutanea tarda in a child following multi-agent chemotherapy. ( 24719070 )
2014
35
Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. ( 24630799 )
2014
36
Porphyria cutanea tarda and Sjogren's syndrome. ( 25054769 )
2014
37
Desferrioxamine treatment of porphyria cutanea tarda in a patient with HIV and chronic renal failure. ( 24502304 )
2014
38
A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda. ( 24958197 )
2014
39
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. ( 23582006 )
2013
40
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda. ( 24081184 )
2013
41
Porphyria cutanea tarda in a hemodialysis patient with hepatitis C virus: efficacy of treatment with multiple phlebotomies and erythropoietin. ( 23354206 )
2013
42
Dermacase. Can you identify this condition? Porphyria cutanea tarda. ( 23851543 )
2013
43
Increased serum hepcidin levels in patients with porphyria cutanea tarda. ( 22429447 )
2013
44
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
45
Images in clinical medicine. Porphyria cutanea tarda and hypertrichosis. ( 24088095 )
2013
46
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. ( 23894244 )
2013
47
Boston keratoprosthesis for visual rehabilitation in porphyria cutanea tarda. ( 23378551 )
2013
48
Porphyria cutanea tarda and spherocytosis: a non-random association? ( 23093332 )
2013
49
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. ( 24068123 )
2013
50
Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1. ( 23012398 )
2013

Variations for Porphyria Cutanea Tarda

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

71 (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
19 UROD p.Arg142Gln VAR_010985
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
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

ClinVar genetic disease variations for Porphyria Cutanea Tarda:

6 (show all 16)
# 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.6_15delAGCGAATGGG (p.Glu2Aspfs) deletion Pathogenic rs397514764 GRCh37 Chromosome 1, 45477943: 45477952
6 UROD NM_000374.4(UROD): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs397514765 GRCh37 Chromosome 1, 45479335: 45479335
7 UROD NM_000374.4(UROD): c.499G> A (p.Glu167Lys) single nucleotide variant Pathogenic rs121918058 GRCh38 Chromosome 1, 45013933: 45013933
8 UROD NM_000374.4(UROD): c.874C> G (p.Arg292Gly) single nucleotide variant Pathogenic rs121918059 GRCh37 Chromosome 1, 45480507: 45480507
9 UROD NM_000374.4(UROD): c.185C> T (p.Pro62Leu) single nucleotide variant Pathogenic rs121918060 GRCh37 Chromosome 1, 45478859: 45478859
10 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh37 Chromosome 1, 45480668: 45480668
11 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh37 Chromosome 1, 45480678: 45480678
12 UROD NM_000374.4(UROD): c.494T> G (p.Met165Arg) single nucleotide variant Pathogenic rs121918063 GRCh37 Chromosome 1, 45479600: 45479600
13 UROD NM_000374.4(UROD): c.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh37 Chromosome 1, 45479689: 45479689
14 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh37 Chromosome 1, 45480648: 45480648
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.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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 ALAD HAMP HFE HFE2 TF TFRC
2 early endosome GO:0005769 9.5 HFE TF TFRC
3 basal part of cell GO:0045178 9.16 HFE TF
4 recycling endosome GO:0055037 9.13 HFE TF TFRC
5 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)
# 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 response to lead ion GO:0010288 9.65 ALAD CPOX FECH
7 cellular iron ion homeostasis GO:0006879 9.65 HAMP HFE HFE2 TF TFRC
8 response to arsenic-containing substance GO:0046685 9.63 ALAD CPOX FECH
9 response to zinc ion GO:0010043 9.62 ALAD HAMP
10 acute-phase response GO:0006953 9.62 HAMP HFE
11 response to iron ion GO:0010039 9.62 ALAD CPOX HAMP HFE
12 liver regeneration GO:0097421 9.61 HAMP HFE
13 positive regulation of receptor-mediated endocytosis GO:0048260 9.61 HFE TF
14 response to methylmercury GO:0051597 9.61 ALAD CPOX FECH
15 response to metal ion GO:0010038 9.6 ALAD FECH
16 response to inorganic substance GO:0010035 9.58 ALAD CPOX
17 tetrapyrrole biosynthetic process GO:0033014 9.58 ALAD HMBS UROS
18 multicellular organismal iron ion homeostasis GO:0060586 9.57 HAMP HFE
19 cellular response to iron ion GO:0071281 9.56 HFE TF
20 response to insecticide GO:0017085 9.55 CPOX FECH
21 response to platinum ion GO:0070541 9.54 ALAD FECH UROS
22 protoporphyrinogen IX metabolic process GO:0046501 9.52 FECH PPOX
23 heme biosynthetic process GO:0006783 9.5 ALAD CPOX FECH HMBS PPOX UROD
24 response to iron ion starvation GO:1990641 9.49 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:

# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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