MCID: CTN011
MIFTS: 45

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 6 44 70
Erythropoietic Porphyria 12 36

Classifications:



External Ids:

Disease Ontology 12 DOID:13271
KEGG 36 H00201
MeSH 44 D017092
NCIt 50 C84697
SNOMED-CT 67 67312003
ICD10 32 E80.0
UMLS 70 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 dyserythropoietic anemia and thrombocytopenia and x-linked protoporphyria. An important gene associated with Cutaneous Porphyria is UROS (Uroporphyrinogen III Synthase), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Colestipol and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and myeloid, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 131)
# Related Disease Score Top Affiliating Genes
1 dyserythropoietic anemia and thrombocytopenia 32.3 ZFPM1 GATA1
2 x-linked protoporphyria 30.6 FECH ALAS2
3 scleromalacia perforans 30.4 UROD CPOX
4 thrombocytopenia with beta-thalassemia, x-linked 30.3 ZFPM1 KLF1 GATA1
5 porphyria, acute intermittent 30.1 UROS UROD PPOX HMBS FLVCR1 FECH
6 acute erythroid leukemia 30.1 KLF1 GATA1
7 familial porphyria cutanea tarda 30.1 UROD HFE
8 hypertrichosis 30.0 UROS UROD PPOX HFE
9 hypochromic microcytic anemia 29.9 STEAP3 HAMP ALAS2
10 inherited metabolic disorder 29.9 HFE HAMP FECH
11 porphyria cutanea tarda 29.8 UROS UROD PPOX HMBS HFE HAMP
12 siderosis 29.8 UROD HFE HAMP
13 rare hereditary hemochromatosis 29.8 HFE HAMP
14 microcytic anemia 29.7 STEAP3 HAMP ALAS2
15 hemolytic anemia 29.7 UROS KLF1 HFE CPOX
16 sideroblastic anemia 29.5 UROD HAMP FECH ALAS2 ALAS1
17 hemosiderosis 29.5 HFE HAMP
18 beta-thalassemia 29.4 KLF1 HFE HAMP GATA1
19 porphyria 29.3 UROS UROD PPOX HMBS HFE HAMP
20 porphyria, congenital erythropoietic 29.2 UROS UROD HMBS GATA1 FECH CPOX
21 coproporphyria, hereditary 28.7 UROS UROD PPOX HMBS FECH CPOX
22 hemochromatosis, type 1 28.5 UROD STEAP3 SLC25A37 HFE HAMP FECH
23 variegate porphyria 28.4 UROS UROD PPOX HMBS HFE FECH
24 protoporphyria, erythropoietic, 1 28.4 UROS UROD SLC25A37 PPOX HMBS FECH
25 acute porphyria 28.2 UROS UROD SLC25A37 PPOX HMBS HFE
26 anemia, sideroblastic, 1 27.7 UROS STEAP3 SLC25A37 HAMP GATA1 FLVCR1
27 deficiency anemia 26.9 UROS STEAP3 SLC25A37 PPOX KLF1 HFE
28 protoporphyria, erythropoietic, 2 11.2
29 autosomal recessive disease 10.7
30 cicatricial ectropion 10.3 UROS UROD
31 hydrops fetalis, nonimmune 10.3
32 lymphatic malformation 7 10.3
33 porphyria cutanea tarda, type i 10.3 UROD HFE
34 erythrasma 10.2 PPOX CPOX
35 scleritis 10.2
36 photoparoxysmal response 1 10.2 UROD PPOX FECH
37 protoporphyria, erythropoietic, x-linked 10.2
38 isolated agammaglobulinemia 10.2
39 thrombocytopenia 1 10.1 ZFPM1 GATA1
40 anemia, sideroblastic, and spinocerebellar ataxia 10.1 SLC25A37 FECH ALAS2
41 abdominal obesity-metabolic syndrome 1 10.1
42 graft-versus-host disease 10.1
43 hypersplenism 10.1
44 polycythemia 10.1
45 erythrokeratoderma ''en cocardes'' 10.1
46 thalassemia minor 10.1 KLF1 GATA1
47 anemia, congenital dyserythropoietic, type iii 10.1 KLF1 GATA1
48 dowling-degos disease 1 10.1
49 anemia, congenital dyserythropoietic, type iv 10.1 KLF1 GATA1
50 spherocytosis, type 2 10.0 KLF1 GATA1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 ALAD ALAS2 CPOX FECH FLVCR1 GATA1
2 growth/size/body region MP:0005378 10.18 ALAS1 CPOX FECH FLVCR1 GATA1 HFE
3 hematopoietic system MP:0005397 10.18 ALAD ALAS2 CPOX FECH FLVCR1 GATA1
4 embryo MP:0005380 10.09 ALAS1 ALAS2 CPOX FECH GATA1 HMBS
5 immune system MP:0005387 9.96 CPOX FECH FLVCR1 GATA1 HFE KLF1
6 integument MP:0010771 9.76 ALAS2 FECH FLVCR1 GATA1 KLF1 SLC25A37
7 liver/biliary system MP:0005370 9.65 FECH GATA1 HFE HMBS KLF1 SLC25A37
8 mortality/aging MP:0010768 9.5 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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colestipol Approved Phase 2, Phase 3 26658-42-4
2
Iron Approved Phase 3 7439-89-6 23925 29936
3
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
4 Hypolipidemic Agents Phase 2, Phase 3
5 Lipid Regulating Agents Phase 2, Phase 3
6 Antimetabolites Phase 2, Phase 3
7 Chelating Agents Phase 3
8 Iron Chelating Agents Phase 3
9
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
10
Ledipasvir Approved Phase 2 1256388-51-8 67505836
11
Hydroxychloroquine Approved Phase 2 118-42-3 3652
12 Tin mesoporphyrin Phase 1, Phase 2
13 Ledipasvir, sofosbuvir drug combination Phase 2
14 Antiviral Agents Phase 2
15 Antirheumatic Agents Phase 2
16 Antiparasitic Agents Phase 2
17 Antiprotozoal Agents Phase 2
18 Antimalarials Phase 2
19 Anti-Infective Agents Phase 2
20
Losartan Approved Phase 1 114798-26-4 3961
21
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
22
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
23
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
24
Caffeine Approved Phase 1 58-08-2 2519
25 Liver Extracts Phase 1
26
Aminolevulinic acid Approved 106-60-5 137
27 Hormones
28 Hormone Antagonists

Interventional clinical trials:

(show all 33)
# 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 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
7 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
8 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
9 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
10 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Active, not recruiting NCT01573754 Phase 2 Hydroxychloroquine
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 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
14 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)
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 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
17 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
18 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
19 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Approved for marketing NCT04056481 Givosiran
20 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
21 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
22 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
23 Study of Nutritional Factors in Porphyria Completed NCT00004788
24 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
25 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
26 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
27 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
28 Longitudinal Study of the Porphyrias Recruiting NCT01561157
29 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
30 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Active, not recruiting NCT02240784
31 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
32 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
33 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 Marrow, Bone, Brain, Heart

Publications for Cutaneous Porphyria

Articles related to Cutaneous Porphyria:

(show top 50) (show all 246)
# Title Authors PMID Year
1
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. 6
21343304 2011
2
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. 6
21365124 2011
3
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. 6
19965637 2010
4
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. 6
12060141 2002
5
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. 6
11254675 2001
6
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. 6
9834209 1998
7
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 6
9803266 1998
8
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 6
8946173 1996
9
[Congenital erythropoietic porphyria]. 6
7616657 1995
10
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. 6
7860775 1995
11
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. 6
1737856 1992
12
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. 6
1733834 1992
13
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). 6
2331520 1990
14
Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. 61
31264284 2020
15
Variegate Porphyria Triggered by Acute Hepatitis A Infection. 61
33312991 2020
16
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. 61
30594473 2019
17
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. 61
30514647 2019
18
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. 61
29928199 2018
19
[Congenital erythropoietic porphyria: case report and management recommendations]. 61
29557620 2018
20
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report. 61
29854403 2018
21
Best practice guidelines on first-line laboratory testing for porphyria. 61
27555665 2017
22
An overview of the cutaneous porphyrias. 61
29152226 2017
23
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. 61
27086902 2016
24
Hepatic porphyria: A narrative review. 61
27796941 2016
25
Porphyria cutanea tarda in a HIV- positive patient. 61
27579753 2016
26
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. 61
27293254 2016
27
Photosensitization in Porphyrias and Photodynamic Therapy Involves TRPA1 and TRPV1. 61
27170124 2016
28
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 61
26280465 2016
29
Variegate Porphyria 61
23409300 2013
30
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
31
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. 61
22816431 2012
32
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. 61
20957336 2011
33
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study. 61
20978938 2011
34
Photosensitivity skin disorders in childhood. 61
21302730 2010
35
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 61
20105171 2010
36
Gene symbol: FECH. Disease: Porphyria, erythropoietic. 61
18846613 2008
37
Gene symbol: FECH. Disease: Porphyria, erythropoietic. 61
18846614 2008
38
Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene. 61
18462440 2008
39
Gene symbol: FECH. Disease: Porphyria, Erythropoietic. 61
20960631 2008
40
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 61
17597821 2007
41
Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic. 61
17879435 2007
42
[Can porphyrinogenic agents be prescribed in late-onset cutaneous porphyria?]. 61
17384564 2007
43
[Hereditary and acquired iron overload]. 61
17373275 2006
44
Gene symbol: FECH. Disease: Porphyria, erythropoietic. Accession #Hg0501. 61
17297688 2006
45
[The combination of carbohydrate and porphyrinic exchange disturbances: is it a chance or regularity?]. 61
17087193 2006
46
[Porphyrin metabolism in men with metabolic syndrome]. 61
17243613 2006
47
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 61
15491440 2004
48
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. 61
15176387 2004
49
Gene Symbol: FECH. Disease: Porphyria, erythropoietic. 61
15176393 2004
50
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 61
14669009 2004

Variations for Cutaneous Porphyria

ClinVar genetic disease variations for Cutaneous Porphyria:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UROS UROS, 80-BP INS Insertion Pathogenic 3757 GRCh37:
GRCh38:
2 UROS NM_000375.3(UROS):c.217T>C (p.Cys73Arg) SNV Pathogenic 3750 rs121908012 GRCh37: 10:127503630-127503630
GRCh38: 10:125815061-125815061
3 UROS NM_000375.3(UROS):c.158C>T (p.Pro53Leu) SNV Pathogenic 3751 rs121908013 GRCh37: 10:127503689-127503689
GRCh38: 10:125815120-125815120
4 UROS NM_000375.3(UROS):c.197C>T (p.Ala66Val) SNV Pathogenic 3752 rs28941774 GRCh37: 10:127503650-127503650
GRCh38: 10:125815081-125815081
5 UROS NM_000375.3(UROS):c.184A>G (p.Thr62Ala) SNV Pathogenic 3753 rs28941775 GRCh37: 10:127503663-127503663
GRCh38: 10:125815094-125815094
6 UROS NM_000375.3(UROS):c.683C>T (p.Thr228Met) SNV Pathogenic 3754 rs121908014 GRCh37: 10:127477552-127477552
GRCh38: 10:125788983-125788983
7 UROS NM_000375.3(UROS):c.10C>T (p.Leu4Phe) SNV Pathogenic 3755 rs121908015 GRCh37: 10:127505059-127505059
GRCh38: 10:125816490-125816490
8 UROS NM_000375.3(UROS):c.562G>A (p.Gly188Arg) SNV Pathogenic 3759 rs121908017 GRCh37: 10:127483547-127483547
GRCh38: 10:125794978-125794978
9 UROS NM_000375.3(UROS):c.243A>T (p.Glu81Asp) SNV Pathogenic 3760 rs121908018 GRCh37: 10:127503604-127503604
GRCh38: 10:125815035-125815035
10 UROS NM_000375.3(UROS):c.562G>T (p.Gly188Trp) SNV Pathogenic 3761 rs121908017 GRCh37: 10:127483547-127483547
GRCh38: 10:125794978-125794978
11 UROS NM_000375.3(UROS):c.-203T>C SNV Pathogenic 3762 rs1554891988 GRCh37: 10:127511774-127511774
GRCh38: 10:125823205-125823205
12 UROS NM_000375.3(UROS):c.-26-183G>A SNV Pathogenic 3763 rs397515349 GRCh37: 10:127505277-127505277
GRCh38: 10:125816708-125816708
13 UROS NM_000375.3(UROS):c.-26-193C>A SNV Pathogenic 3764 rs397515350 GRCh37: 10:127505287-127505287
GRCh38: 10:125816718-125816718
14 UROS NM_000375.3(UROS):c.-26-197C>A SNV Pathogenic 3765 rs397515351 GRCh37: 10:127505291-127505291
GRCh38: 10:125816722-125816722
15 UROS NM_000375.3(UROS):c.673G>A (p.Gly225Ser) SNV Pathogenic 3766 rs121908020 GRCh37: 10:127477562-127477562
GRCh38: 10:125788993-125788993
16 UROS NM_000375.3(UROS):c.63+1G>A SNV Pathogenic 3767 rs373864821 GRCh37: 10:127505005-127505005
GRCh38: 10:125816436-125816436
17 UROS NM_000375.3(UROS):c.395-1dup Duplication Pathogenic 3768 rs796051859 GRCh37: 10:127486711-127486712
GRCh38: 10:125798142-125798143
18 UROS NM_000375.3(UROS):c.743C>A (p.Pro248Gln) SNV Pathogenic 3769 rs121908021 GRCh37: 10:127477492-127477492
GRCh38: 10:125788923-125788923
19 UROS NM_000375.3(UROS):c.661-31T>G SNV Pathogenic 30626 rs750180293 GRCh37: 10:127477605-127477605
GRCh38: 10:125789036-125789036
20 UROS NM_000375.3(UROS):c.139T>C (p.Ser47Pro) SNV Pathogenic 65600 rs397515527 GRCh37: 10:127504754-127504754
GRCh38: 10:125816185-125816185
21 UROS NM_000375.3(UROS):c.311C>T (p.Ala104Val) SNV Pathogenic 65601 rs397515528 GRCh37: 10:127500791-127500791
GRCh38: 10:125812222-125812222
22 UROS NM_000375.3(UROS):c.660+1G>A SNV Pathogenic 1030750 GRCh37: 10:127483448-127483448
GRCh38: 10:125794879-125794879
23 UROS NM_000375.3(UROS):c.562-2A>T SNV Pathogenic 1032321 GRCh37: 10:127483549-127483549
GRCh38: 10:125794980-125794980
24 UROS NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) SNV Pathogenic 694740 rs1590007244 GRCh37: 10:127505013-127505013
GRCh38: 10:125816444-125816444
25 UROS NM_000375.2(UROS):c.148_244del (p.Leu50Serfs) Deletion Pathogenic 3756 GRCh37:
GRCh38:
26 UROS NM_000375.3(UROS):c.512T>C (p.Val171Ala) SNV Uncertain significance 299189 rs17173752 GRCh37: 10:127484721-127484721
GRCh38: 10:125796152-125796152
27 UROS NM_000375.3(UROS):c.327A>C (p.Lys109Asn) SNV Uncertain significance 299192 rs369561042 GRCh37: 10:127496049-127496049
GRCh38: 10:125807480-125807480
28 UROS NM_000375.3(UROS):c.169G>A (p.Gly57Arg) SNV Uncertain significance 879195 GRCh37: 10:127503678-127503678
GRCh38: 10:125815109-125815109
29 UROS NM_000375.3(UROS):c.106T>G (p.Leu36Val) SNV Uncertain significance 879196 GRCh37: 10:127504787-127504787
GRCh38: 10:125816218-125816218
30 UROS NM_000375.3(UROS):c.63+8G>A SNV Uncertain significance 713813 rs17153575 GRCh37: 10:127504998-127504998
GRCh38: 10:125816429-125816429
31 UROS NM_000375.3(UROS):c.53C>T (p.Pro18Leu) SNV Uncertain significance 879197 GRCh37: 10:127505016-127505016
GRCh38: 10:125816447-125816447
32 UROS NM_000375.3(UROS):c.-134C>A SNV Uncertain significance 880399 GRCh37: 10:127511705-127511705
GRCh38: 10:125823136-125823136
33 UROS NM_000375.3(UROS):c.-195C>A SNV Uncertain significance 880400 GRCh37: 10:127511766-127511766
GRCh38: 10:125823197-125823197
34 UROS NM_000375.3(UROS):c.244G>T (p.Val82Phe) SNV Uncertain significance 3758 rs121908016 GRCh37: 10:127503603-127503603
GRCh38: 10:125815034-125815034
35 UROS NM_000375.3(UROS):c.*99A>G SNV Uncertain significance 299184 rs886046814 GRCh37: 10:127477338-127477338
GRCh38: 10:125788769-125788769
36 UROS NM_000375.3(UROS):c.475+14T>A SNV Uncertain significance 299190 rs17425877 GRCh37: 10:127486620-127486620
GRCh38: 10:125798051-125798051
37 UROS NM_000375.3(UROS):c.251A>C (p.Glu84Ala) SNV Uncertain significance 299193 rs763606042 GRCh37: 10:127500851-127500851
GRCh38: 10:125812282-125812282
38 UROS NM_000375.3(UROS):c.691G>A (p.Ala231Thr) SNV Uncertain significance 299187 rs780837512 GRCh37: 10:127477544-127477544
GRCh38: 10:125788975-125788975
39 UROS NM_000375.3(UROS):c.-232G>A SNV Uncertain significance 299199 rs886046815 GRCh37: 10:127511803-127511803
GRCh38: 10:125823234-125823234
40 UROS NM_000375.3(UROS):c.*178G>A SNV Uncertain significance 299183 rs569628154 GRCh37: 10:127477259-127477259
GRCh38: 10:125788690-125788690
41 UROS NM_000375.3(UROS):c.*24A>G SNV Uncertain significance 299186 rs760003189 GRCh37: 10:127477413-127477413
GRCh38: 10:125788844-125788844
42 UROS NM_000375.3(UROS):c.-224C>T SNV Uncertain significance 877640 GRCh37: 10:127511795-127511795
GRCh38: 10:125823226-125823226
43 UROS NM_000375.3(UROS):c.*92T>G SNV Uncertain significance 878597 GRCh37: 10:127477345-127477345
GRCh38: 10:125788776-125788776
44 UROS NM_000375.3(UROS):c.*56T>C SNV Uncertain significance 878598 GRCh37: 10:127477381-127477381
GRCh38: 10:125788812-125788812
45 UROS NM_000375.3(UROS):c.740C>T (p.Thr247Met) SNV Likely benign 878599 GRCh37: 10:127477495-127477495
GRCh38: 10:125788926-125788926
46 UROS NM_000375.3(UROS):c.-31G>T SNV Likely benign 299196 rs73381212 GRCh37: 10:127511602-127511602
GRCh38: 10:125823033-125823033
47 UROS NM_000375.3(UROS):c.27G>A (p.Ala9=) SNV Likely benign 299194 rs150059279 GRCh37: 10:127505042-127505042
GRCh38: 10:125816473-125816473
48 UROS NM_000375.3(UROS):c.-27+10G>A SNV Likely benign 299195 rs376517536 GRCh37: 10:127511588-127511588
GRCh38: 10:125823019-125823019
49 UROS NM_000375.3(UROS):c.*96G>A SNV Likely benign 877580 GRCh37: 10:127477341-127477341
GRCh38: 10:125788772-125788772
50 UROS NM_000375.3(UROS):c.-136C>T SNV Benign 299197 rs539482783 GRCh37: 10:127511707-127511707
GRCh38: 10:125823138-125823138

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 9.26 SLC25A37 PPOX FECH ALAS2
2 mitochondrion GO:0005739 9.23 UROS SLC25A37 PPOX FLVCR1 FECH CPOX

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.8 ALAS2 ALAS1 ALAD
2 response to ethanol GO:0045471 9.78 HAMP FECH ALAD
3 cellular iron ion homeostasis GO:0006879 9.73 HFE HAMP FLVCR1 ALAS2
4 erythrocyte differentiation GO:0030218 9.72 ZFPM1 KLF1 GATA1 FLVCR1 ALAS2
5 iron ion homeostasis GO:0055072 9.71 STEAP3 SLC25A37 HFE HAMP
6 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
7 erythrocyte development GO:0048821 9.65 GATA1 ALAS2 ALAS1
8 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
9 liver regeneration GO:0097421 9.63 HFE HAMP
10 response to zinc ion GO:0010043 9.63 HAMP ALAD
11 response to iron ion GO:0010039 9.63 HFE HAMP ALAD
12 response to lead ion GO:0010288 9.62 FECH ALAD
13 response to metal ion GO:0010038 9.61 FECH ALAD
14 embryonic hemopoiesis GO:0035162 9.6 ZFPM1 GATA1
15 platelet formation GO:0030220 9.59 ZFPM1 GATA1
16 response to arsenic-containing substance GO:0046685 9.58 FECH ALAD
17 megakaryocyte differentiation GO:0030219 9.58 ZFPM1 GATA1
18 response to methylmercury GO:0051597 9.57 FECH ALAD
19 hemoglobin biosynthetic process GO:0042541 9.56 ALAS2 ALAS1
20 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
21 porphyrin-containing compound metabolic process GO:0006778 9.55 ALAS2 ALAS1
22 transcriptional activation by promoter-enhancer looping GO:0071733 9.54 ZFPM1 GATA1
23 response to platinum ion GO:0070541 9.54 UROS FECH ALAD
24 response to iron ion starvation GO:1990641 9.52 HFE HAMP
25 protoporphyrinogen IX metabolic process GO:0046501 9.51 PPOX FECH
26 regulation of definitive erythrocyte differentiation GO:0010724 9.49 ZFPM1 GATA1
27 heme biosynthetic process GO:0006783 9.28 UROS UROD PPOX HMBS FECH CPOX

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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