DSAP
MCID: PRK001
MIFTS: 44

Porokeratosis (DSAP) malady

Summaries for Porokeratosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 lichen planus. 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, liver and lung.

Aliases & Classifications for Porokeratosis

Sources:
8Disease Ontology, 45Novoseek, 43NIH Rare Diseases, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt
See all sources

Aliases & Descriptions:

porokeratosis 8 45
disseminated superficial actinic porokeratosis 8 43
porokeratosis, disseminated superficial actinic, 1 61
porokeratosis, disseminated superficial actinic 61
porokeratosis of mibelli 61
porokeratosis, nos 8
dsap 43


External Ids:

Disease Ontology8 DOID:3805
MeSH35 D017499
NCIt40 C85019

Related Diseases for Porokeratosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 88)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma30.9S100A7, FLG, IVL, NBN, TP53
2lichen planus30.1IVL, FLG
3pemphigus foliaceus30.0IVL
4keratoderma29.8LOR
5basal cell carcinoma29.8S100A7, IVL, TP53
6linear porokeratosis10.8
7punctate porokeratosis10.6
8porokeratosis of mibelli10.4
9porokeratosis, disseminated superficial actinic 110.4
10porokeratosis plantaris palmaris et disseminata10.4
11porokeratosis 3, disseminated superficial actinic10.4
12craniosynostosis, anal anomalies, and porokeratosis10.3
13amyloidosis10.2
14porokeratosis, disseminated superficial actinic 210.2
15pemphigus10.1
16anal squamous cell carcinoma10.1
17hepatitis c10.0
18skin squamous cell carcinoma10.0
19pseudoainhum10.0
20porokeratosis 5, disseminated superficial actinic10.0
21porokeratosis 2, palmar, plantar, and disseminated10.0
22porokeratosis 4, disseminated superficial actinic10.0
23porokeratosis 710.0
24porokeratosis 610.0
25palmoplantar porokeratosis of mantoux10.0
26lichen amyloidosis10.0
27superficial pemphigus10.0
28epidermolysis bullosa10.0FLG
29keratoacanthoma10.0IVL
30mucoepidermoid carcinoma10.0SSH1
31epidermolytic hyperkeratosis10.0LOR, FLG
32leukoplakia10.0IVL, FLG
33cholesteatoma10.0IVL, FLG
34epidermolysis bullosa simplex10.0IVL, FLG
35congenital ichthyosiform erythroderma10.0IVL, FLG
36nonepidermolytic palmoplantar keratoderma10.0FLG, LOR
37bowen syndrome10.0IVL, FLG
38atopic dermatitis10.0LOR, FLG
39molluscum contagiosum10.0LOR, FLG, IVL
40ichthyosis vulgaris10.0IVL, FLG, LOR
41skin disease10.0IVL, FLG, S100A7, LOR
42psoriasis10.0LOR, S100A7, FLG, IVL
43keratosis10.0LOR, SART3, FLG, IVL, SSH1
44adenocarcinoma10.0FECH, IVL, TP53
45papilloma10.0LOR, FLG, IVL, TP53
46dermatitis10.0IVL, FLG, S100A7, LOR
47breast cancer10.0S100A7, IVL, NBN, TP53
48graft versus host disease9.9
49burn scar9.9
50acute pancreatitis9.9

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Clinical Features for Porokeratosis

Drugs & Therapeutics for Porokeratosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Porokeratosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Porokeratosis:

33
Skin, Liver, Lung, Bone marrow, Heart, Colon, Prostate, T cells, B lymphoblasts, B cells

Animal Models for Porokeratosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Porokeratosis

Sources:
51PubMed
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Articles related to Porokeratosis:

(show top 50)    (show all 529)
idTitleAuthorsYear
1
Hyperkeratotic variant of inflammatory disseminated superficial porokeratosis with lichenoid reaction and extensive amyloid deposition. (23452269)
2014
2
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
3
Annular lichen planus-like keratosis: clues to pre-existing porokeratosis. (22804779)
2013
4
Solitary plaque of the labial commissure with contiguous mucosal involvement: a distinct subset of porokeratosis? (24125747)
2013
5
Porokeratosis: present concepts. (21929548)
2012
6
Disseminated superficial actinic porokeratosis associated with pseudoxanthoma elasticum. (21616751)
2011
7
Disseminated bilateral hyperkeratotic variant of porokeratosis Mibelli with pruritus. (21914586)
2011
8
Disseminated superficial and warty type of porokeratosis: a rare coexistence. (22121283)
2011
9
Coexistence of porokeratosis of Mibelli with Gardner's syndrome: A rare case report. (23130235)
2011
10
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
11
Localized actinic nasal porokeratosis. (20447088)
2010
12
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
13
Porokeratosis: Two Faces, One Family. (20652115)
2009
14
Simultaneous co-occurrence of porokeratosis of Mibelli with disseminated superficial actinic porokeratosis. (20101350)
2009
15
Eruptive disseminated superficial porokeratosis with rapid resolution: a drug-induced phenomenon? (19508573)
2009
16
Disseminated superficial actinic porokeratosis in black skin. (19200193)
2009
17
Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli. (17397946)
2008
18
Facial porokeratosis. (18174807)
2008
19
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? (17621637)
2007
20
Loss of heterozygosity analysis on chromosome 12q in disseminated superficial actinic porokeratosis. (16946719)
2007
21
Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. (17392836)
2007
22
Disseminated superficial porokeratosis with amyloid deposits. (16048764)
2005
23
Multiple squamous cell carcinomas complicating linear porokeratosis. (12752189)
2003
24
Porokeratosis of the lower lip. (12370146)
2002
25
A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1. (12366408)
2002
26
Synchronous development of disseminated superficial porokeratosis and hepatitis C virus-related hepatocellular carcinoma. (11044835)
2000
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
Squamous cell carcinoma in a renal transplant recipient with linear porokeratosis. (10343471)
1999
30
Disseminated superficial actinic porokeratosis occurring in two members of an Asian family. (9604455)
1997
31
Squamous cell carcinoma arising from giant porokeratosis: a case with extensive metastasis and hypercalcemia. (8609268)
1996
32
Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear, and punctate porokeratosis. (7896495)
1995
33
Mutilating lesions in porokeratosis of Mibelli. (8589489)
1995
34
Porokeratosis of Mibelli on the penis, scrotum and natal cleft. (8313646)
1994
35
Exacerbation of porokeratosis: a sign of immunodepression. (8245238)
1993
36
Porokeratosis palmaris et plantaris disseminata. Report of a case with abnormal DNA ploidy in lesional epidermis. (1531406)
1992
37
Porokeratosis: a report of three clinical variants. (1836046)
1991
38
Digitate keratoses--a complication of etretinate used in the treatment of disseminated superficial actinic porokeratosis. (2146049)
1990
39
Cultured skin fibroblasts from patients with porokeratosis are hypersensitive to the lethal effects of X-radiation. (2496057)
1989
40
Porokeratosis has neoplastic clones in the epidermis: microfluorometric analysis of DNA content of epidermal cell nuclei. (2715656)
1989
41
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
42
Squamous cell carcinoma arising in porokeratosis of mibelli. (3759315)
1986
43
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
44
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. (2934437)
1985
45
Porokeratosis plantaris discreta. (6715622)
1984
46
Disseminated superficial "actinic" porokeratosis. (6490996)
1984
47
Porokeratosis associated with basal cell carcinoma. (7094629)
1982
48
Squamous cell carcinoma in disseminated superficial actinic porokeratosis. (7085957)
1982
49
A surface impression and scanning electron microscopic study of porokeratosis of Mibelli. (861176)
1977
50
Zosteriform porokeratosis of Mibelli. (5173272)
1971

Genetic Variations for Porokeratosis

Expression for genes affiliated with Porokeratosis

Sources:
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

Sources:
54Reactome, 38NCBI 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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Porokeratosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1collodion459.7IVL, LOR
2epsilon-(gamma-glutamyl)lysine459.6LOR, IVL
3histidine459.6FLG, FECH, MVK, LOR
4farnesol45 29 11 2412.5IVL, MVK
5arsenate459.5FLG, IVL
6dithranol459.4FLG, IVL
7hematoxylin459.4LOR, FLG, IVL
8calcipotriol45 60 29 1112.1IVL, FLG
9proline458.7MVK, LOR, IVL, TP53
10retinoic acid45 249.3IVL, FLG, S100A7, LOR, TP53
11serine458.1LOR, MVK, FECH, FLG, IVL, NBN

GO Terms for genes affiliated with Porokeratosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porokeratosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet