HEP
MCID: PRP003
MIFTS: 67

Porphyria Cutanea Tarda (HEP)

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 57 12 76 53 59 29 13 55 6 44 15 40 73
Hepatoerythropoietic Porphyria 12 76 24 53 59 75 29 6 15 73
Uroporphyrinogen Decarboxylase Deficiency 57 75 73
Familial Porphyria Cutanea Tarda 59 75 73
Hep 53 59 75
Porphyria Cutanea Tarda, Susceptibility to 57 6
Porphyria, Hepatoerythropoietic 57 44
Porphyria Cutanea Tarda Type Ii 59 75
Urod Deficiency 57 75
Pct 57 59
Porphyria Cutanea Tarda, Type Ii 57
Porphyria, Hepatocutaneous Type 57
Porphyria Hepatocutaneous Type 75
Uroporphyrinogen Decarboxylase 13
Pct, 'familial' Type 57
Porphyria, Hepatic 53
Porphyria Hepatic 55
Pct, Type Ii 57
Pct Type Ii 75
Fpct 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32

Classifications:



Summaries for Porphyria Cutanea Tarda

UniProtKB/Swiss-Prot : 75 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 Metabolism and Porphyrin and chlorophyll metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related phenotypes are sudden cardiac death and hemolytic anemia

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

NIH Rare Diseases : 53 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.

OMIM : 57 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 : 76 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 193)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 34.9 HFE UROD
2 familial porphyria cutanea tarda 34.5 HFE UROD
3 porphyria 31.3 ALAD ALAS1 CPOX CYP1A2 FECH HFE
4 porphyria, acute intermittent 31.2 ALAD ALAS1 CPOX FECH HMBS PPOX
5 coproporphyria, hereditary 31.2 ALAD ALAS1 CPOX FECH HMBS PPOX
6 hemosiderosis 31.1 HAMP HFE TF TFRC
7 thalassemia 30.7 HFE TF TFRC
8 beta-thalassemia 30.7 HFE TF TFRC
9 siderosis 30.6 HFE TF TFRC UROD
10 hemochromatosis, type 1 30.6 HAMP HFE TF TFRC UROD
11 inherited metabolic disorder 30.0 FECH HAMP HFE TF
12 cutaneous porphyria 29.7 CPOX FECH UROD UROS
13 protoporphyria, erythropoietic, 1 29.6 ALAD CPOX FECH HMBS PPOX UROS
14 porphyria variegata 29.4 ALAD CPOX FECH HFE HMBS PPOX
15 porphyria, congenital erythropoietic 29.2 ALAD CPOX FECH HMBS UROD UROS
16 acute porphyria 28.7 ALAD ALAS1 CPOX FECH HFE HMBS
17 hepatitis 11.1
18 hepatitis c 11.1
19 fanconi syndrome 11.1
20 hepatitis c virus 11.0
21 viral infectious disease 10.9
22 lupus erythematosus 10.8
23 leukemia 10.7
24 hepatocellular carcinoma 10.6
25 systemic lupus erythematosus 10.6
26 liver disease 10.6
27 human immunodeficiency virus infectious disease 10.5
28 alopecia 10.5
29 diabetes mellitus 10.5
30 cutaneous lupus erythematosus 10.5
31 lymphoma 10.5
32 viral hepatitis 10.5
33 epidermolysis bullosa 10.5
34 subacute cutaneous lupus erythematosus 10.5
35 hepatoblastoma 10.5
36 hepatitis b 10.4
37 acquired immunodeficiency syndrome 10.4
38 leukemia, chronic myeloid 10.4
39 arthritis 10.4
40 gout 10.4
41 squamous cell carcinoma 10.4
42 hypertrichosis 10.4
43 epidermolysis bullosa acquisita 10.4
44 discoid lupus erythematosus 10.4
45 rheumatoid arthritis 10.3
46 scleroderma, familial progressive 10.3
47 myelofibrosis 10.3
48 myeloma, multiple 10.3
49 myelodysplastic syndrome 10.3
50 lymphocytic leukemia 10.3

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:

57
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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
2 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
3 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
4 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
5 thin skin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
6 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
7 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
8 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
9 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
10 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
11 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
12 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
13 cerebral palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100021
14 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000992
15 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
16 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
17 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
18 alopecia 32 HP:0001596
19 onycholysis 32 HP:0001806
20 scleroderma 32 HP:0100324
21 fragile skin 32 HP:0001030
22 facial hypertrichosis 32 HP:0002219
23 hyperpigmentation in sun-exposed areas 32 HP:0005586

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ALAD HFE PPOX TFRC UROD

MGI Mouse Phenotypes related to Porphyria Cutanea Tarda:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 CPOX CYP1A2 FECH HFE HMBS PPOX
2 liver/biliary system MP:0005370 9.43 CYP1A2 FECH HFE TFRC UROD UROS
3 mortality/aging MP:0010768 9.36 ALAS1 CPOX CYP1A2 FECH HFE HMBS

Drugs & Therapeutics for Porphyria Cutanea Tarda

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3,Phase 2,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4 Hormones Phase 3,Phase 2
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
6 Hormone Antagonists Phase 3,Phase 2
7 alpha-MSH Phase 3,Phase 2 581-05-5
8 Iron Chelating Agents Phase 3,Phase 2
9 Chelating Agents Phase 3,Phase 2
10 cysteine Phase 3,Not Applicable
11 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
12 Antimetabolites Phase 2, Phase 3,Not Applicable
13 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
16
Ledipasvir Approved Phase 2 1256388-51-8 67505836
17 Anti-Infective Agents Phase 2,Not Applicable
18 Antiparasitic Agents Phase 2
19 Antirheumatic Agents Phase 2
20 Antimalarials Phase 2
21 Antiprotozoal Agents Phase 2
22 Antiviral Agents Phase 2
23 Ledipasvir, sofosbuvir drug combination Phase 2
24
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
25
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
26
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
27
Caffeine Approved Phase 1 58-08-2 2519
28
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
29
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
30
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
31
Losartan Approved Phase 1 114798-26-4 3961
32 Central Nervous System Depressants Phase 1
33 Peripheral Nervous System Agents Phase 1
34 Dopamine Antagonists Phase 1
35 Antiemetics Phase 1
36 Dopamine Agents Phase 1
37 Antipsychotic Agents Phase 1
38 Tranquilizing Agents Phase 1
39 Neurotransmitter Agents Phase 1
40 Autonomic Agents Phase 1
41 Psychotropic Drugs Phase 1
42 Gastrointestinal Agents Phase 1
43 Liver Extracts Phase 1
44 Antitussive Agents Phase 1
45 Anti-Ulcer Agents Phase 1
46 Respiratory System Agents Phase 1
47 Proton Pump Inhibitors Phase 1
48 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
49 Excitatory Amino Acid Antagonists Phase 1
50 Antacids Phase 1

Interventional clinical trials:

(show all 36)
# 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 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
7 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
8 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
9 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
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 Study to Evaluate Efficacy, Safety, and Tolerability of MT‑7117 in Subjects With Erythropoietic Protoporphyria Recruiting NCT03520036 Phase 2 MT-7117 low dose;MT-7117 high dose;Placebo
13 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
14 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
15 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)
16 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
17 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)
18 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
19 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
20 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
21 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
22 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
23 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
24 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
25 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
26 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
27 Longitudinal Study of the Porphyrias Recruiting NCT01561157
28 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
29 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
30 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
31 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
32 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
33 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
34 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
35 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
36 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

Search NIH Clinical Center for Porphyria Cutanea Tarda

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Skin, Liver, Bone, Testes, Prostate, Myeloid, Bone Marrow

Publications for Porphyria Cutanea Tarda

Articles related to Porphyria Cutanea Tarda:

(show top 50) (show all 962)
# Title Authors Year
1
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor. ( 29370566 )
2018
2
The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda. ( 29631513 )
2018
3
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). ( 29641722 )
2018
4
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. ( 29928199 )
2018
5
Pseudo porphyria or porphyria cutanea tarda? ( 29791431 )
2018
6
Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarial: A Meta-analysis. ( 29750336 )
2018
7
Porphyria cutanea tarda presenting as milia and blisters. ( 29789288 )
2018
8
Diagnosing diabetes mellitus in patients with porphyria cutanea tarda. ( 29516487 )
2018
9
SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. ( 29774528 )
2018
10
A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major. ( 30094935 )
2018
11
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria. ( 30176039 )
2018
12
Non-familial porphyria cutanea tarda: a case report of a rare disease. ( 30229639 )
2018
13
The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation. ( 30522880 )
2018
14
Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report. ( 30506825 )
2018
15
Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease. ( 30099101 )
2018
16
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. ( 30514647 )
2018
17
Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient. ( 30528547 )
2018
18
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
19
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
20
Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy. ( 29091216 )
2017
21
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
22
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
23
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
24
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
25
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. ( 28755733 )
2017
26
Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. ( 28641714 )
2017
27
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. ( 28776562 )
2017
28
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
29
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. ( 28210512 )
2017
30
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
31
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. ( 27293254 )
2016
32
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. ( 27661980 )
2016
33
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. ( 26775575 )
2016
34
Resolution of Porphyria Cutanea Tarda in Patients With Hepatitis C Following Ledipasvir-Sofosbuvir Combination Therapy. ( 27732687 )
2016
35
Porphyria Cutanea Tarda. ( 27669078 )
2016
36
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. ( 27767238 )
2016
37
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. ( 26576928 )
2016
38
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. ( 26908385 )
2016
39
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? ( 27550066 )
2016
40
Porphyria cutanea tarda in a HIV- positive patient. ( 27579753 )
2016
41
Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda. ( 26158360 )
2015
42
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. ( 26269702 )
2015
43
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. ( 25572312 )
2015
44
Sclerodermiform porphyria cutanea tarda after torasemide. ( 26693635 )
2015
45
Porphyria cutanea tarda in a child with acute lymphoblastic leukemia. ( 26319705 )
2015
46
Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India. ( 24958988 )
2014
47
Ocular manifestations in porphyria cutanea tarda. ( 24811555 )
2014
48
A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda. ( 24958197 )
2014
49
Porphyria cutanea tarda in a child following multi-agent chemotherapy. ( 24719070 )
2014
50
Porphyria cutanea tarda and Sjogren's syndrome. ( 25054769 )
2014

Variations for Porphyria Cutanea Tarda

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

75 (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 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

ClinVar genetic disease variations for Porphyria Cutanea Tarda:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh37 Chromosome 6, 26093141: 26093141
2 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh38 Chromosome 6, 26092913: 26092913
3 UROD NM_000374.4(UROD): c.842G> T (p.Gly281Val) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
4 UROD NM_000374.4(UROD): c.842G> T (p.Gly281Val) single nucleotide variant Pathogenic rs121918057 GRCh38 Chromosome 1, 45014803: 45014803
5 UROD NM_000374.4(UROD): c.842G> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh37 Chromosome 1, 45480475: 45480475
6 UROD NM_000374.4(UROD): c.842G> A (p.Gly281Glu) single nucleotide variant Pathogenic rs121918057 GRCh38 Chromosome 1, 45014803: 45014803
7 UROD NM_000374.4(UROD): c.636+1G> C single nucleotide variant Pathogenic rs145195562 GRCh38 Chromosome 1, 45014071: 45014071
8 UROD NM_000374.4(UROD): c.636+1G> C single nucleotide variant Pathogenic rs145195562 GRCh37 Chromosome 1, 45479743: 45479743
9 UROD NM_000374.4(UROD): c.499G> A (p.Glu167Lys) single nucleotide variant Pathogenic rs121918058 GRCh37 Chromosome 1, 45479605: 45479605
10 UROD NM_000374.4(UROD): c.499G> A (p.Glu167Lys) single nucleotide variant Pathogenic rs121918058 GRCh38 Chromosome 1, 45013933: 45013933
11 UROD NM_000374.4(UROD): c.874C> G (p.Arg292Gly) single nucleotide variant Pathogenic rs121918059 GRCh37 Chromosome 1, 45480507: 45480507
12 UROD NM_000374.4(UROD): c.874C> G (p.Arg292Gly) single nucleotide variant Pathogenic rs121918059 GRCh38 Chromosome 1, 45014835: 45014835
13 UROD NM_000374.4(UROD): c.185C> T (p.Pro62Leu) single nucleotide variant Pathogenic rs121918060 GRCh37 Chromosome 1, 45478859: 45478859
14 UROD NM_000374.4(UROD): c.185C> T (p.Pro62Leu) single nucleotide variant Pathogenic rs121918060 GRCh38 Chromosome 1, 45013187: 45013187
15 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh37 Chromosome 1, 45480668: 45480668
16 UROD NM_000374.4(UROD): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs121918061 GRCh38 Chromosome 1, 45014996: 45014996
17 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh37 Chromosome 1, 45480678: 45480678
18 UROD NM_000374.4(UROD): c.942G> A (p.Glu314=) single nucleotide variant Pathogenic rs121918062 GRCh38 Chromosome 1, 45015006: 45015006
19 UROD NM_000374.4(UROD): c.494T> G (p.Met165Arg) single nucleotide variant Pathogenic rs121918063 GRCh37 Chromosome 1, 45479600: 45479600
20 UROD NM_000374.4(UROD): c.494T> G (p.Met165Arg) single nucleotide variant Pathogenic rs121918063 GRCh38 Chromosome 1, 45013928: 45013928
21 UROD NM_000374.4(UROD): c.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh37 Chromosome 1, 45479689: 45479689
22 UROD NM_000374.4(UROD): c.583C> T (p.Leu195Phe) single nucleotide variant Pathogenic rs121918064 GRCh38 Chromosome 1, 45014017: 45014017
23 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh37 Chromosome 1, 45480648: 45480648
24 UROD NM_000374.4(UROD): c.912C> A (p.Asn304Lys) single nucleotide variant Pathogenic rs121918065 GRCh38 Chromosome 1, 45014976: 45014976
25 UROD NM_000374.4(UROD): c.995G> A (p.Arg332His) single nucleotide variant Pathogenic rs121918066 GRCh37 Chromosome 1, 45481061: 45481061
26 UROD NM_000374.4(UROD): c.995G> A (p.Arg332His) single nucleotide variant Pathogenic rs121918066 GRCh38 Chromosome 1, 45015389: 45015389
27 UROD NM_000374.4(UROD): c.6_15delAGCGAATGGG (p.Glu2Aspfs) deletion Pathogenic rs397514764 GRCh37 Chromosome 1, 45477943: 45477952
28 UROD NM_000374.4(UROD): c.6_15delAGCGAATGGG (p.Glu2Aspfs) deletion Pathogenic rs397514764 GRCh38 Chromosome 1, 45012271: 45012280
29 UROD NM_000374.4(UROD): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs397514765 GRCh37 Chromosome 1, 45479335: 45479335
30 UROD NM_000374.4(UROD): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs397514765 GRCh38 Chromosome 1, 45013663: 45013663
31 UROD NM_000374.4(UROD): c.578G> C (p.Arg193Pro) single nucleotide variant Pathogenic rs143823335 GRCh37 Chromosome 1, 45479684: 45479684
32 UROD NM_000374.4(UROD): c.578G> C (p.Arg193Pro) single nucleotide variant Pathogenic rs143823335 GRCh38 Chromosome 1, 45014012: 45014012
33 UROD NM_000374.4(UROD): c.603A> G (p.Pro201=) single nucleotide variant Benign/Likely benign rs2228084 GRCh37 Chromosome 1, 45479709: 45479709
34 UROD NM_000374.4(UROD): c.603A> G (p.Pro201=) single nucleotide variant Benign/Likely benign rs2228084 GRCh38 Chromosome 1, 45014037: 45014037
35 UROD NM_000374.4(UROD): c.*3G> A single nucleotide variant Likely benign rs74349352 GRCh37 Chromosome 1, 45481173: 45481173
36 UROD NM_000374.4(UROD): c.*3G> A single nucleotide variant Likely benign rs74349352 GRCh38 Chromosome 1, 45015501: 45015501
37 UROD NM_000374.4(UROD): c.-1C> T single nucleotide variant Uncertain significance rs886046364 GRCh38 Chromosome 1, 45012265: 45012265
38 UROD NM_000374.4(UROD): c.-1C> T single nucleotide variant Uncertain significance rs886046364 GRCh37 Chromosome 1, 45477937: 45477937
39 UROD NM_000374.4(UROD): c.693G> A (p.Lys231=) single nucleotide variant Uncertain significance rs143180539 GRCh38 Chromosome 1, 45014495: 45014495
40 UROD NM_000374.4(UROD): c.693G> A (p.Lys231=) single nucleotide variant Uncertain significance rs143180539 GRCh37 Chromosome 1, 45480167: 45480167
41 UROD NM_000374.4(UROD): c.758T> A (p.Leu253Gln) single nucleotide variant Likely benign rs36033115 GRCh38 Chromosome 1, 45014560: 45014560
42 UROD NM_000374.4(UROD): c.758T> A (p.Leu253Gln) single nucleotide variant Likely benign rs36033115 GRCh37 Chromosome 1, 45480232: 45480232
43 UROD NM_000374.4(UROD): c.*45C> T single nucleotide variant Uncertain significance rs371078664 GRCh37 Chromosome 1, 45481215: 45481215
44 UROD NM_000374.4(UROD): c.*45C> T single nucleotide variant Uncertain significance rs371078664 GRCh38 Chromosome 1, 45015543: 45015543
45 UROD NM_000374.4(UROD): c.-67G> A single nucleotide variant Uncertain significance rs767012968 GRCh38 Chromosome 1, 45012199: 45012199
46 UROD NM_000374.4(UROD): c.-67G> A single nucleotide variant Uncertain significance rs767012968 GRCh37 Chromosome 1, 45477871: 45477871
47 UROD NM_000374.4(UROD): c.-57dupG duplication Uncertain significance rs886046363 GRCh38 Chromosome 1, 45012209: 45012209
48 UROD NM_000374.4(UROD): c.-57dupG duplication Uncertain significance rs886046363 GRCh37 Chromosome 1, 45477881: 45477881
49 UROD NM_000374.4(UROD): c.-52C> A single nucleotide variant Uncertain significance rs41269103 GRCh38 Chromosome 1, 45012214: 45012214
50 UROD NM_000374.4(UROD): c.-52C> A single nucleotide variant Uncertain significance rs41269103 GRCh37 Chromosome 1, 45477886: 45477886

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 early endosome GO:0005769 9.43 HFE TF TFRC
2 recycling endosome GO:0055037 9.33 HFE TF TFRC
3 clathrin-coated vesicle membrane GO:0030665 9.32 TF TFRC
4 basal part of cell GO:0045178 8.96 HFE TF
5 HFE-transferrin receptor complex GO:1990712 8.8 HFE 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 9.86 ALAD CYP1A2 FECH PPOX
2 heme biosynthetic process GO:0006783 9.76 ALAD ALAS1 CPOX FECH HMBS PPOX
3 response to ethanol GO:0045471 9.75 ALAD FECH HAMP
4 cellular iron ion homeostasis GO:0006879 9.67 HAMP HFE TF TFRC
5 acute-phase response GO:0006953 9.62 HAMP HFE
6 iron ion homeostasis GO:0055072 9.62 HFE TF
7 liver regeneration GO:0097421 9.61 HAMP HFE
8 response to zinc ion GO:0010043 9.61 ALAD HAMP
9 transferrin transport GO:0033572 9.61 HFE TF TFRC
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.6 HFE TF
11 response to lead ion GO:0010288 9.59 ALAD FECH
12 response to metal ion GO:0010038 9.58 ALAD FECH
13 response to iron ion GO:0010039 9.58 ALAD HAMP HFE
14 response to arsenic-containing substance GO:0046685 9.57 ALAD FECH
15 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS1 HMBS UROS
16 multicellular organismal iron ion homeostasis GO:0060586 9.55 HAMP HFE
17 cellular response to iron ion GO:0071281 9.54 HFE TF
18 response to methylmercury GO:0051597 9.52 ALAD FECH
19 porphyrin-containing compound metabolic process GO:0006778 9.51 ALAS1 CYP1A2
20 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
21 porphyrin-containing compound biosynthetic process GO:0006779 9.5 ALAD CPOX FECH HMBS PPOX UROD
22 protoporphyrinogen IX metabolic process GO:0046501 9.49 FECH PPOX
23 regulation of iron ion import GO:1900390 9.48 HFE TF
24 response to iron ion starvation GO:1990641 9.46 HAMP HFE
25 protoporphyrinogen IX biosynthetic process GO:0006782 9.17 ALAD ALAS1 CPOX HMBS PPOX UROD

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

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.16 FECH TF
2 transferrin receptor binding GO:1990459 8.96 HFE TF
3 lyase activity GO:0016829 8.92 ALAD FECH UROD UROS

Sources for Porphyria Cutanea Tarda

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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