MCID: CTN011
MIFTS: 38

Cutaneous Porphyria

Categories: Genetic diseases, Metabolic diseases, Skin diseases

Aliases & Classifications for Cutaneous Porphyria

MalaCards integrated aliases for Cutaneous Porphyria:

Name: Cutaneous Porphyria 12 15
Porphyria, Erythropoietic 43 71
Erythropoietic Porphyria 12 36

Classifications:



External Ids:

Disease Ontology 12 DOID:13271
KEGG 36 H00201
MeSH 43 D017092
NCIt 49 C84697
SNOMED-CT 67 22935002 67312003
ICD10 32 E80.0
UMLS 71 C0162530

Summaries for Cutaneous Porphyria

KEGG : 36 Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.

MalaCards based summary : Cutaneous Porphyria, also known as porphyria, erythropoietic, is related to x-linked protoporphyria and scleromalacia perforans. An important gene associated with Cutaneous Porphyria is UROD (Uroporphyrinogen Decarboxylase), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Colestipol and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and myeloid, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Cutaneous Porphyria

Diseases related to Cutaneous Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 x-linked protoporphyria 30.8 FECH ALAS2
2 scleromalacia perforans 30.4 UROS CPOX
3 hypochromic microcytic anemia 30.0 SLC25A38 ALAS2
4 porphyria cutanea tarda 29.7 UROS UROD PPOX HMBS HFE FECH
5 familial porphyria cutanea tarda 29.6 UROD HFE
6 siderosis 29.5 UROD HFE
7 hemosiderosis 29.5 UROD HFE ALAS2
8 hypertrichosis 29.4 UROS UROD PPOX HFE
9 porphyria 29.2 UROS UROD PPOX HMBS HFE GATA1
10 anemia, sideroblastic, 1 28.9 UROS SLC25A38 FECH ALAS2 ALAS1 ALAD
11 hemochromatosis, type 1 28.8 UROD HFE FECH ALAS2
12 porphyria, congenital erythropoietic 28.8 UROS UROD HMBS GATA1 FECH CPOX
13 sideroblastic anemia 28.3 UROD SLC25A38 HFE FECH ALAS2 ALAS1
14 deficiency anemia 27.8 SLC25A38 HFE GATA1 FECH ALAS2 ALAD
15 protoporphyria, erythropoietic, 1 27.7 UROS UROD SLC25A38 PPOX HMBS FECH
16 coproporphyria, hereditary 27.7 UROS UROD PPOX HMBS FLVCR1 FECH
17 variegate porphyria 27.3 UROS UROD PPOX HMBS HFE FECH
18 porphyria, acute intermittent 27.3 UROS UROD PPOX HMBS FLVCR1 FECH
19 acute porphyria 27.0 UROS UROD PPOX HMBS HFE FECH
20 dyserythropoietic anemia and thrombocytopenia 11.7
21 autosomal recessive disease 10.8
22 protoporphyria, erythropoietic, x-linked 10.5
23 isolated agammaglobulinemia 10.5
24 hydrops fetalis, nonimmune 10.4
25 thrombocytopenia 10.4
26 gata1-related x-linked cytopenia 10.3
27 cicatricial ectropion 10.3 UROS UROD
28 scleritis 10.3
29 abdominal obesity-metabolic syndrome 1 10.2
30 graft-versus-host disease 10.2
31 hypersplenism 10.2
32 inherited metabolic disorder 10.2
33 polycythemia 10.2
34 erythrokeratoderma ''en cocardes'' 10.2
35 immune hydrops fetalis 10.2
36 immune deficiency disease 10.1
37 erythrasma 10.1 PPOX CPOX
38 dowling-degos disease 1 10.1
39 photoparoxysmal response 1 10.0 UROD PPOX FECH
40 acroosteolysis 10.0
41 erythroleukemia, familial 10.0
42 scleroderma, familial progressive 10.0
43 lipoid congenital adrenal hyperplasia 10.0
44 anemia, hypochromic microcytic, with iron overload 1 10.0
45 pseudoxanthoma elasticum 10.0
46 thrombocytopenia with beta-thalassemia, x-linked 10.0
47 fetal hemoglobin quantitative trait locus 6 10.0
48 beta-thalassemia 10.0
49 nail disorder, nonsyndromic congenital, 10 10.0
50 helix syndrome 10.0

Graphical network of the top 20 diseases related to Cutaneous Porphyria:



Diseases related to Cutaneous Porphyria

Symptoms & Phenotypes for Cutaneous Porphyria

MGI Mouse Phenotypes related to Cutaneous Porphyria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 ALAS1 CPOX FECH FLVCR1 GATA1 HFE
2 homeostasis/metabolism MP:0005376 9.7 ALAD ALAS2 CPOX FECH FLVCR1 GATA1
3 mortality/aging MP:0010768 9.4 ALAD ALAS1 ALAS2 CPOX FECH FLVCR1

Drugs & Therapeutics for Cutaneous Porphyria

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colestipol Approved Phase 2, Phase 3 26658-42-4
2
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
3 Hypolipidemic Agents Phase 2, Phase 3
4 Antimetabolites Phase 2, Phase 3
5 Lipid Regulating Agents Phase 2, Phase 3
6 Chelating Agents Phase 3
7 Iron Chelating Agents Phase 3
8
Ledipasvir Approved Phase 2 1256388-51-8 67505836
9
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
10
Hydroxychloroquine Approved Phase 2 118-42-3 3652
11
Tin Phase 2 7440-31-5
12 Tin mesoporphyrin Phase 2
13 Antiviral Agents Phase 2
14 Ledipasvir, sofosbuvir drug combination Phase 2
15 Anti-Infective Agents Phase 2
16 Antiparasitic Agents Phase 2
17 Antiprotozoal Agents Phase 2
18 Antimalarials Phase 2
19 Antirheumatic Agents Phase 2
20
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
21
Losartan Approved Phase 1 114798-26-4 3961
22
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
23
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
24
Caffeine Approved Phase 1 58-08-2 2519
25
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
26 Neurotransmitter Agents Phase 1
27 Gastrointestinal Agents Phase 1
28 Proton Pump Inhibitors Phase 1
29 Respiratory System Agents Phase 1
30 Anti-Ulcer Agents Phase 1
31 Antitussive Agents Phase 1
32 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
33 Excitatory Amino Acid Antagonists Phase 1
34 Excitatory Amino Acids Phase 1
35 Antacids Phase 1
36 Liver Extracts Phase 1
37
Aminolevulinic acid Approved 106-60-5 137
38
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
39 Hormone Antagonists
40 Hormones

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
4 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
5 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
6 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
7 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
8 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
9 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Recruiting NCT01573754 Phase 2 Hydroxychloroquine
10 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
11 A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1 Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
12 A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria Active, not recruiting NCT02180412 Phase 2
13 A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
14 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1 heme arginate;tin mesoporphyrin
15 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1 heme arginate;tin mesoporphyrin
16 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
17 Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
18 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
19 “Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus” Completed NCT00213772
20 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
21 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
22 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
23 Study of Nutritional Factors in Porphyria Completed NCT00004788
24 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
25 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
26 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
27 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
28 Longitudinal Study of the Porphyrias Recruiting NCT01561157
29 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Recruiting NCT02240784
30 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
31 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
32 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
33 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
34 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Cutaneous Porphyria

Cochrane evidence based reviews: porphyria, erythropoietic

Genetic Tests for Cutaneous Porphyria

Anatomical Context for Cutaneous Porphyria

MalaCards organs/tissues related to Cutaneous Porphyria:

40
Liver, Skin, Myeloid, Bone, Testes, Heart, Pancreas

Publications for Cutaneous Porphyria

Articles related to Cutaneous Porphyria:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. 61
31264284 2020
2
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. 61
30594473 2019
3
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. 61
30514647 2019
4
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. 61
29928199 2018
5
[Congenital erythropoietic porphyria: case report and management recommendations]. 61
29557620 2018
6
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report. 61
29854403 2018
7
Best practice guidelines on first-line laboratory testing for porphyria. 61
27555665 2017
8
An overview of the cutaneous porphyrias. 61
29152226 2017
9
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. 61
27086902 2016
10
Hepatic porphyria: A narrative review. 61
27796941 2016
11
Porphyria cutanea tarda in a HIV- positive patient. 61
27579753 2016
12
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. 61
27293254 2016
13
Photosensitization in Porphyrias and Photodynamic Therapy Involves TRPA1 and TRPV1. 61
27170124 2016
14
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 61
26280465 2016
15
Variegate Porphyria 61
23409300 2013
16
Peripheral intrahepatic cholangiocarcinoma occurring in patients without cirrhosis or chronic bile duct diseases: epidemiology and histopathology of distant nontumoral liver in 57 White patients. 61
23085575 2013
17
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. 61
22816431 2012
18
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. 61
20957336 2011
19
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study. 61
20978938 2011
20
Photosensitivity skin disorders in childhood. 61
21302730 2010
21
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 61
20105171 2010
22
Gene symbol: FECH. Disease: Porphyria, erythropoietic. 61
18846613 2008
23
Gene symbol: FECH. Disease: Porphyria, erythropoietic. 61
18846614 2008
24
Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene. 61
18462440 2008
25
Gene symbol: FECH. Disease: Porphyria, Erythropoietic. 61
20960631 2008
26
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 61
17597821 2007
27
Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic. 61
17879435 2007
28
[Can porphyrinogenic agents be prescribed in late-onset cutaneous porphyria?]. 61
17384564 2007
29
[Hereditary and acquired iron overload]. 61
17373275 2006
30
Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501. 61
17297688 2006
31
[Porphyrin metabolism in men with metabolic syndrome]. 61
17243613 2006
32
[The combination of carbohydrate and porphyrinic exchange disturbances: is it a chance or regularity?]. 61
17087193 2006
33
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 61
15491440 2004
34
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. 61
15176387 2004
35
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. 61
15176393 2004
36
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 61
14669009 2004
37
Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic. 61
15046047 2004
38
Photoonycholysis. 61
12390677 2002
39
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. 61
12071824 2002
40
[Late cutaneous porphyria and systemic lupus erythematosus (brief literature review and analysis of own data)]. 61
11234151 2001
41
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. 61
10980536 2000
42
[Marginal corneal perforation associated with herpes simplex virus in a patient with essential cutaneous porphyria]. 61
10992066 2000
43
Cutaneous porphyria in a neonate with tyrosinaemia type 1. 61
10923223 2000
44
[Cutaneous porphyria cure in a patient infected with human immunodeficiency virus treated with triple therapy]. 61
10763195 2000
45
[Porphyria cutanea tarda after antineoplastic drugs]. 61
10566234 1999
46
The cutaneous porphyrias: a review. The British Photodermatology Group. 61
10233305 1999
47
Hepatocellular carcinoma presenting with acquired porphyria: a case report and review of the literature. 61
10418219 1999
48
Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. 61
9516679 1998
49
Retrobulbar optic neuritis after pamidronate administration in a patient with a history of cutaneous porphyria. 61
9132334 1997
50
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 61
8896428 1996

Variations for Cutaneous Porphyria

Expression for Cutaneous Porphyria

Search GEO for disease gene expression data for Cutaneous Porphyria.

Pathways for Cutaneous Porphyria

Pathways related to Cutaneous Porphyria according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

GO Terms for Cutaneous Porphyria

Cellular components related to Cutaneous Porphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.35 SLC25A38 PPOX FECH CPOX ALAS2
2 mitochondrion GO:0005739 9.23 UROS SLC25A38 PPOX FLVCR1 FECH CPOX

Biological processes related to Cutaneous Porphyria according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.71 SLC25A38 GATA1 FLVCR1 ALAS2
2 cellular iron ion homeostasis GO:0006879 9.7 HFE FLVCR1 ALAS2
3 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
4 response to lead ion GO:0010288 9.65 FECH CPOX ALAD
5 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
6 response to iron ion GO:0010039 9.63 HFE CPOX ALAD
7 response to arsenic-containing substance GO:0046685 9.61 FECH CPOX ALAD
8 biosynthetic process GO:0009058 9.56 ALAS2 ALAS1
9 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
10 response to inorganic substance GO:0010035 9.55 CPOX ALAD
11 response to insecticide GO:0017085 9.54 FECH CPOX
12 response to methylmercury GO:0051597 9.54 FECH CPOX ALAD
13 porphyrin-containing compound metabolic process GO:0006778 9.51 ALAS2 ALAS1
14 response to platinum ion GO:0070541 9.5 UROS FECH ALAD
15 protoporphyrinogen IX metabolic process GO:0046501 9.49 PPOX FECH
16 heme biosynthetic process GO:0006783 9.32 UROS UROD SLC25A38 PPOX HMBS FECH

Molecular functions related to Cutaneous Porphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.26 UROS UROD FECH ALAD
2 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS2 ALAS1

Sources for Cutaneous Porphyria

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17 EFO
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28 GO
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MESH via Orphanet
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48 NCI
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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