MCID: CTN011
MIFTS: 37

Cutaneous Porphyria

Categories: Metabolic diseases, Skin diseases

Aliases & Classifications for Cutaneous Porphyria

MalaCards integrated aliases for Cutaneous Porphyria:

Name: Cutaneous Porphyria 12 15
Porphyria, Erythropoietic 45 74
Erythropoietic Porphyria 12 38

Classifications:



External Ids:

Disease Ontology 12 DOID:13271
KEGG 38 H00201
MeSH 45 D017092
NCIt 51 C84697
SNOMED-CT 69 22935002 67312003
ICD10 34 E80.0
UMLS 74 C0162530

Summaries for Cutaneous Porphyria

MalaCards based summary : Cutaneous Porphyria, also known as porphyria, erythropoietic, is related to porphyria, congenital erythropoietic and porphyria, acute intermittent. 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 Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Cutaneous Porphyria

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 porphyria, congenital erythropoietic 33.1 CPOX FECH UROD UROS
2 porphyria, acute intermittent 31.4 CPOX FECH UROD UROS
3 porphyria cutanea tarda 31.1 CPOX FECH UROD UROS
4 protoporphyria, erythropoietic, 1 30.1 ALAS2 CPOX FECH UROS
5 porphyria 29.3 ALAS2 CPOX FECH UROD UROS
6 coproporphyria, hereditary 28.4 ALAS2 CPOX FECH UROD UROS
7 protoporphyria, erythropoietic, x-linked 10.4
8 isolated agammaglobulinemia 10.4
9 hematopoietic stem cell transplantation 10.1
10 scleritis 10.1
11 lipoid congenital adrenal hyperplasia 10.0
12 cryptorchidism, unilateral or bilateral 10.0
13 pseudoxanthoma elasticum 10.0
14 myelodysplastic syndrome 10.0
15 thrombocytopenia 10.0
16 metabolic acidosis 10.0
17 siderosis 10.0
18 constrictive pericarditis 10.0
19 nephrotic syndrome 10.0
20 ventricular septal defect 10.0
21 squamous cell carcinoma 10.0
22 pericarditis 10.0
23 iron metabolism disease 10.0
24 cystic lymphangioma 10.0
25 polycythemia 10.0
26 5-alpha reductase deficiency 10.0
27 erythropoietic uroporphyria associated with myeloid malignancy 10.0
28 optic neuritis 9.8
29 hemosiderosis 9.8
30 neuritis 9.8
31 x-linked protoporphyria 9.7 ALAS2 FECH
32 hemochromatosis, type 1 9.7 ALAS2 UROD
33 anemia, sideroblastic, 1 9.5 ALAS2 FECH UROS
34 porphyria variegata 9.3 CPOX FECH UROD UROS
35 acute porphyria 8.9 ALAS2 CPOX FECH UROD UROS

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



Diseases related to Cutaneous Porphyria

Symptoms & Phenotypes for Cutaneous Porphyria

GenomeRNAi Phenotypes related to Cutaneous Porphyria according to GeneCards Suite gene sharing:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.66 UROD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.66 FECH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 UROD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 FECH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 FECH PROC UROD
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 FECH
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.66 FECH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 FECH
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.66 PROC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.66 PROC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.66 UROD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.66 UROD
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 PROC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 PROC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 PROC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 PROC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 PROC
18 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.66 FECH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 UROD
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 UROD

MGI Mouse Phenotypes related to Cutaneous Porphyria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 ALAS2 CPOX FECH PROC UROS
2 homeostasis/metabolism MP:0005376 9.63 ALAS2 CPOX FECH PROC UROD UROS
3 liver/biliary system MP:0005370 9.26 FECH PROC UROD UROS
4 mortality/aging MP:0010768 9.1 ALAS2 CPOX FECH PROC UROD UROS

Drugs & Therapeutics for Cutaneous Porphyria

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
2
Iron Approved, Experimental Phase 3,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4
Afamelanotide Experimental, Investigational Phase 3,Phase 2 75921-69-6
5 Hormones Phase 3,Phase 2,Not Applicable
6 alpha-MSH Phase 3,Phase 2 581-05-5
7 Hormone Antagonists Phase 3,Phase 2,Not Applicable
8 Dermatologic Agents Phase 3,Phase 2,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
10 Iron Chelating Agents Phase 3,Phase 2
11 Chelating Agents Phase 3,Phase 2
12 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
13 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
14 Antimetabolites Phase 2, Phase 3,Not Applicable
15 cysteine Phase 3,Not Applicable
16
Hydroxychloroquine Approved Phase 2 118-42-3 3652
17
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
18
Ledipasvir Approved Phase 2 1256388-51-8 67505836
19
Tin Phase 1, Phase 2,Phase 2 7440-31-5
20 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
21 Antiprotozoal Agents Phase 2
22 Antirheumatic Agents Phase 2
23 Antiparasitic Agents Phase 2
24 Anti-Infective Agents Phase 2,Not Applicable
25 Antimalarials Phase 2
26 Antiviral Agents Phase 2
27 Ledipasvir, sofosbuvir drug combination Phase 2
28
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
29
Caffeine Approved Phase 1 58-08-2 2519
30
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
31
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
32
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
33
Losartan Approved Phase 1 114798-26-4 3961
34
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
35
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
36
Tocopherol Approved, Investigational Phase 1 1406-66-2 14986
37
Pentoxifylline Approved, Investigational Phase 1 6493-05-6 4740
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
39 Tocotrienol Investigational Phase 1 6829-55-6
40 Liver Extracts Phase 1
41 Respiratory System Agents Phase 1
42 Antitussive Agents Phase 1
43 Antacids Phase 1
44 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
45 Gastrointestinal Agents Phase 1
46 Proton Pump Inhibitors Phase 1
47 Excitatory Amino Acids Phase 1
48 Excitatory Amino Acid Antagonists Phase 1
49 Anti-Ulcer Agents Phase 1
50 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
3 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
4 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
5 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
6 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
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 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
10 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
11 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
12 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;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 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2 Hydroxychloroquine
16 Harvoni Treatment Porphyria Cutanea Tarda Recruiting NCT03118674 Phase 2 Harvoni
17 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
18 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)
19 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
20 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
21 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)
22 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
23 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
24 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
25 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
26 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients Not yet recruiting NCT03723291 Phase 1
27 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
28 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
29 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
30 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
31 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
32 Study of Nutritional Factors in Porphyria Completed NCT00004788
33 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
34 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
35 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
36 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
37 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
38 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
39 Longitudinal Study of the Porphyrias Recruiting NCT01561157
40 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
41 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
42 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
43 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
44 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
45 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
46 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
47 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

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:

42
Skin, Liver

Publications for Cutaneous Porphyria

Articles related to Cutaneous Porphyria:

(show all 48)
# Title Authors Year
1
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. ( 27086902 )
2016
2
Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene. ( 18462440 )
2008
3
Gene symbol: FECH. Disease: Porphyria, Erythropoietic. ( 20960631 )
2008
4
Gene symbol: FECH. Disease: Porphyria, erythropoietic. ( 18846613 )
2008
5
Gene symbol: FECH. Disease: Porphyria, erythropoietic. ( 18846614 )
2008
6
Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic. ( 17879435 )
2007
7
Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501. ( 17297688 )
2006
8
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. ( 15176393 )
2004
9
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. ( 15176387 )
2004
10
Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic. ( 15046047 )
2004
11
Cutaneous porphyria in a neonate with tyrosinaemia type 1. ( 10923223 )
2000
12
Retrobulbar optic neuritis after pamidronate administration in a patient with a history of cutaneous porphyria. ( 9132334 )
1997
13
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. ( 8896428 )
1996
14
Drug-induced cutaneous porphyria. ( 7907270 )
1993
15
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]. ( 1363904 )
1992
16
[Association of idiopathic hemochromatosis and tardive cutaneous porphyria]. ( 1661554 )
1991
17
2 cases of cutaneous porphyria. ( 6418457 )
1983
18
Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria? ( 7114869 )
1982
19
Skin changes resembling hepatic cutaneous porphyria induced by oxytetracycline photosensitization. ( 6449325 )
1980
20
Cutaneous porphyria. ( 7398149 )
1980
21
The treatment of cutaneous porphyria. ( 883916 )
1977
22
Malignant hepatoma associated with acquired hepatic cutaneous porphyria. ( 174497 )
1976
23
Latent cutaneous porphyria, type PCT, in a Caucasian woman. ( 5076626 )
1972
24
Auto-immunity and cutaneous porphyria. ( 5150279 )
1971
25
Ocular involvement in cutaneous porphyria. A clinical and histological report. ( 5087600 )
1971
26
The treatment of cutaneous porphyria with chloroquine or D-penicillamine. ( 5492482 )
1970
27
Cutaneous porphyria due to a malignant primary hepatoma. ( 4319877 )
1970
28
Phlebotomy therapy in cutaneous porphyria. Effect on iron and trace metals. ( 5413253 )
1970
29
Current concepts of cutaneous porphyria and its treatment with particular reference to the use of sodium calciumedetate. ( 4983411 )
1970
30
Iron overload in cutaneous porphyria. ( 5797077 )
1969
31
Cutaneous porphyria. Favourable results in twelve cases treated by chelation. ( 4957272 )
1965
32
EFFECTS OF CHLOROQUINE ON PATIENTS WITH CUTANEOUS PORPHYRIA OF THE "SYMPTOMATIC" TYPE. ( 14278818 )
1965
33
Cutaneous porphyria in alcoholic siblings. ( 5831439 )
1965
34
FAMILIAL CUTANEOUS PORPHYRIA. ( 14277961 )
1965
35
HEPATIC CUTANEOUS PORPHYRIA. RESPONSE OF A PATIENT TO TREATMENT WITH ADENOSINE-5-MONOPHOSPHATE. ( 14107614 )
1964
36
CUTANEOUS PORPHYRIA IN EGYPTIANS. ( 14154809 )
1964
37
Experimental production of skin lesions in human cutaneous porphyria. ( 14495290 )
1962
38
Chelation therapy in cutaneous porphyria. A review and report of a five-year recovery. ( 14008250 )
1961
39
Cutaneous porphyria in Turkey. ( 14442995 )
1960
40
Cutaneous porphyria. Observations on 111 cases in three racial groups. ( 13819090 )
1960
41
Observations concerning the aetiology of cutaneous porphyria. ( 13704904 )
1960
42
Biochemical features of cutaneous porphyria and porphyria cutanea tarda. ( 13584275 )
1958
43
Cutaneous porphyria with porphobilinogenuria; a review and report of a case treated by chelation. ( 13519865 )
1958
44
The treatment of photophobia in two cases of cutaneous porphyria. ( 14398185 )
1955
45
[A case of cutaneous porphyria, in an adult]. ( 13240358 )
1955
46
[A case of cutaneous porphyria in an adult]. ( 13240359 )
1955
47
The effect of BAL on a case of cutaneous porphyria. ( 13227797 )
1954
48
Cutaneous porphyria in the adult. ( 13190114 )
1954

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:

38
# 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 mitochondrion GO:0005739 8.92 ALAS2 CPOX FECH UROS

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

# Name GO ID Score Top Affiliating Genes
1 porphyrin-containing compound biosynthetic process GO:0006779 9.46 CPOX FECH UROD UROS
2 tetrapyrrole biosynthetic process GO:0033014 9.32 ALAS2 UROS
3 response to platinum ion GO:0070541 9.26 FECH UROS
4 protoporphyrinogen IX biosynthetic process GO:0006782 9.26 ALAS2 CPOX UROD UROS
5 heme biosynthetic process GO:0006783 9.02 ALAS2 CPOX FECH UROD UROS

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.8 FECH UROD UROS

Sources for Cutaneous Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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