DSAP
MCID: PRK001
MIFTS: 45

Porokeratosis (DSAP) malady

Summaries for Porokeratosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

MalaCards: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to squamous cell carcinoma and psoriasis. An important gene associated with Porokeratosis is SART3 (squamous cell carcinoma antigen recognized by T cells 3), and among its related pathways is Fanconi Anemia pathway. The compounds collodion and epsilon-(gamma-glutamyl)lysine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone.

Aliases & Classifications for Porokeratosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

porokeratosis 8 44
disseminated superficial actinic porokeratosis 8 42
porokeratosis, disseminated superficial actinic, 1 60
porokeratosis, disseminated superficial actinic 60
porokeratosis of mibelli 60
porokeratosis, nos 8
dsap 42


External Ids:

Disease Ontology8 DOID:3805
MeSH34 D017499
NCIt39 C85019

Related Diseases for Porokeratosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Porokeratosis family:

Porokeratosis 7 Porokeratosis 6

Diseases related to Porokeratosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma30.8TP53, NBN, IVL, FLG, S100A7
2psoriasis30.5LOR, S100A7, FLG, IVL
3lichen planus30.1FLG, IVL
4keratosis29.9IVL, SSH1, FLG, LOR, SART3
5basal cell carcinoma29.7S100A7, IVL, TP53
6dermatitis29.7FLG, LOR, IVL, S100A7
7porokeratosis of mibelli10.4
8punctate porokeratosis10.4
9porokeratosis plantaris palmaris et disseminata10.3
10linear porokeratosis10.3
11porokeratosis 3, disseminated superficial actinic10.3
12craniosynostosis, anal anomalies, and porokeratosis10.3
13hepatitis10.2
14porokeratosis, disseminated superficial actinic 110.2
15amyloidosis10.1
16porokeratosis, disseminated superficial actinic 210.1
17hepatitis c10.1
18pemphigus10.1
19hepatitis a10.1
20craniosynostosis10.1
21cholangiocarcinoma10.0
22chromosomal disease10.0
23colon cancer10.0
24cutaneous t cell lymphoma10.0
25liver disease10.0
26skin squamous cell carcinoma10.0
27porokeratosis 5, disseminated superficial actinic10.0
28porokeratosis 2, palmar, plantar, and disseminated10.0
29porokeratosis 4, disseminated superficial actinic10.0
30porokeratosis 710.0
31porokeratosis 610.0
32palmoplantar porokeratosis of mantoux10.0
33keratoderma10.0LOR
34epidermolysis bullosa10.0FLG
35keratoacanthoma10.0IVL
36mucoepidermoid carcinoma10.0SSH1
37pemphigus foliaceus10.0IVL
38epidermolytic hyperkeratosis10.0FLG, LOR
39leukoplakia10.0IVL, FLG
40cholesteatoma10.0FLG, IVL
41epidermolysis bullosa simplex10.0IVL, FLG
42congenital ichthyosiform erythroderma10.0FLG, IVL
43nonepidermolytic palmoplantar keratoderma10.0FLG, LOR
44bowen syndrome10.0IVL, FLG
45atopic dermatitis10.0FLG, LOR
46molluscum contagiosum10.0IVL, LOR, FLG
47ichthyosis vulgaris10.0LOR, FLG, IVL
48skin disease10.0FLG, LOR, S100A7, IVL
49adenocarcinoma10.0IVL, TP53, FECH
50papilloma10.0LOR, FLG, IVL, TP53

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Clinical Features for Porokeratosis

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Drugs & Therapeutics for Porokeratosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Porokeratosis

Drug clinical trials:

Search ClinicalTrials for Porokeratosis

Search NIH Clinical Center for Porokeratosis

Search CenterWatch for Porokeratosis

Genetic Tests for Porokeratosis

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Anatomical Context for Porokeratosis

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32MalaCards
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MalaCards organs/tissues related to Porokeratosis:

32
Skin, Bone marrow, Bone, Liver, Colon, T cells, B cells, Heart, Testes, Lung, Prostate

Animal Models for Porokeratosis or affiliated genes

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Publications for Porokeratosis

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Sources:
50PubMed
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Articles related to Porokeratosis:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
2
Systematized linear porokeratosis: concept of type 2 segmental manifestation implies an increased cancer risk. (22779423)
2012
3
Disseminated superficial actinic porokeratosis associated with pseudoxanthoma elasticum. (21616751)
2011
4
Disseminated bilateral hyperkeratotic variant of porokeratosis Mibelli with pruritus. (21914586)
2011
5
Disseminated superficial and warty type of porokeratosis: a rare coexistence. (22121283)
2011
6
Disseminated superficial actinic porokeratosis co-existing with linear and verrucous porokeratosis in an elderly woman: Update on the genetics and clinical expression of porokeratosis. (20451293)
2010
7
Porokeratosis of Mibelli with mutilation: a case report. (20919600)
2010
8
Facial porokeratosis: A series of six patients. (20695858)
2010
9
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
10
Porokeratosis: Two Faces, One Family. (20652115)
2009
11
Simultaneous co-occurrence of porokeratosis of Mibelli with disseminated superficial actinic porokeratosis. (20101350)
2009
12
Eruptive disseminated superficial porokeratosis with rapid resolution: a drug-induced phenomenon? (19508573)
2009
13
Disseminated superficial actinic porokeratosis in black skin. (19200193)
2009
14
Photodynamic therapy in disseminated superficial actinic porokeratosis. (18429984)
2009
15
Pustular porokeratosis. (19508498)
2009
16
Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli. (17397946)
2008
17
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? (17621637)
2007
18
Loss of heterozygosity analysis on chromosome 12q in disseminated superficial actinic porokeratosis. (16946719)
2007
19
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. (16681588)
2006
20
Successful treatment of disseminated superficial actinic porokeratosis with methyl aminolevulinate-photodynamic therapy. (16854765)
2006
21
Disseminated superficial porokeratosis with amyloid deposits. (16048764)
2005
22
A case of giant porokeratosis with vestiges of a cornoid lamella. (16361750)
2005
23
Disseminated porokeratosis palmaris and plantaris treated with imiquimod cream to prevent malignancy. (16396815)
2005
24
Multiple squamous cell carcinomas complicating linear porokeratosis. (12752189)
2003
25
Porokeratosis of the lower lip. (12370146)
2002
26
Videodermatoscopic approach to porokeratosis of Mibelli: a useful tool for the diagnosis. (11859950)
2001
27
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
28
Successful treatment of porokeratosis with 585 nm pulsed dye laser irradiation. (10349540)
1999
29
Expression of p53, pRb, p16 and proliferating cell nuclear antigen in squamous cell carcinomas arising on a giant porokeratosis. (10583074)
1999
30
Disseminated superficial actinic porokeratosis occurring in two members of an Asian family. (9604455)
1997
31
p53 gene mutation analysis in porokeratosis and porokeratosis-associated squamous cell carcinoma. (9138474)
1997
32
Mutilating lesion in porokeratosis of Mibelli. (8829516)
1996
33
Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear, and punctate porokeratosis. (7896495)
1995
34
Linear porokeratosis presenting as erosions in the newborn period. (8747577)
1995
35
Porokeratosis of Mibelli on the penis, scrotum and natal cleft. (8313646)
1994
36
Disseminated superficial actinic porokeratosis responding to calcipotriol. (8313653)
1994
37
Exacerbation of porokeratosis: a sign of immunodepression. (8245238)
1993
38
Cutaneous T-cell lymphoma mimicking porokeratosis of Mibelli. (8245245)
1993
39
Porokeratosis palmaris et plantaris disseminata. Report of a case with abnormal DNA ploidy in lesional epidermis. (1531406)
1992
40
Porokeratosis: a report of three clinical variants. (1836046)
1991
41
Porokeratosis localized to the access region for hemodialysis. (1918479)
1991
42
Cultured skin fibroblasts from patients with porokeratosis are hypersensitive to the lethal effects of X-radiation. (2496057)
1989
43
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
44
Squamous cell carcinoma arising in porokeratosis of mibelli. (3759315)
1986
45
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
46
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. (2934437)
1985
47
Porokeratosis plantaris palmaris et disseminata. (6237133)
1984
48
Porokeratosis associated with basal cell carcinoma. (7094629)
1982
49
A surface impression and scanning electron microscopic study of porokeratosis of Mibelli. (861176)
1977
50
Bowen disease associated with porokeratosis of Mibelli. (1200657)
1975

Genetic Variations for Porokeratosis

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Expression for genes affiliated with Porokeratosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

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53Reactome, 37NCBI BioSystems Database
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Pathways related to Porokeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8TP53, NBN

Compounds for genes affiliated with Porokeratosis

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Porokeratosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1collodion449.7IVL, LOR
2epsilon-(gamma-glutamyl)lysine449.6IVL, LOR
3histidine449.6LOR, MVK, FECH, FLG
4farnesol44 28 11 2412.5IVL, MVK
5arsenate449.5FLG, IVL
6dithranol449.4FLG, IVL
7hematoxylin449.4IVL, FLG, LOR
8calcipotriol44 59 28 1112.1IVL, FLG
9proline448.7LOR, MVK, IVL, TP53
10retinoic acid44 249.3TP53, IVL, FLG, S100A7, LOR
11serine448.1LOR, MVK, FECH, FLG, IVL, NBN

GO Terms for genes affiliated with Porokeratosis

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16Gene Ontology
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Cellular components related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1replication forkGO:0056579.5TP53, NBN
2cornified envelopeGO:0015339.4IVL, LOR

Biological processes related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediatorGO:0303309.5TP53, NBN
2peptide cross-linkingGO:0181499.4IVL, LOR
3keratinocyte differentiationGO:0302168.5IVL, FLG, S100A7, LOR

Molecular functions related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1IVL, FLG, LOR

Products for genes affiliated with Porokeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porokeratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet