MCID: CTN011
MIFTS: 33

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 44 73
Erythropoietic Porphyria 12 37

Classifications:



External Ids:

Disease Ontology 12 DOID:13271
ICD10 33 E80.0
MeSH 44 D017092
NCIt 50 C84697
SNOMED-CT 68 22935002 67312003
KEGG 37 H00201
UMLS 73 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 Colestipol and Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and myeloid, and related phenotypes are homeostasis/metabolism and integument

Related Diseases for Cutaneous Porphyria

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 9.63 ALAS2 CPOX FECH TRPV1 UROD UROS
2 integument MP:0010771 9.26 ALAS2 FECH TRPV1 UROS
3 liver/biliary system MP:0005370 8.92 FECH TRPV1 UROD UROS

Drugs & Therapeutics for Cutaneous Porphyria

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colestipol Approved Phase 2, Phase 3 26658-42-4
2 Lipid Regulating Agents Phase 2, Phase 3
3 Antimetabolites Phase 2, Phase 3
4 Hypolipidemic Agents Phase 2, Phase 3
5
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
2 Longitudinal Study of the Porphyrias Recruiting NCT01561157

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:

41
Skin, Myeloid

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....