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, 44Novoseek, 42NIH Rare Diseases, 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


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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, T cells, Colon, Liver, Testes, Prostate, Lung, Heart, B cells

Animal Models for Porokeratosis or affiliated genes

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Publications for Porokeratosis

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50PubMed
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Articles related to Porokeratosis:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
A case of linear porokeratosis treated with photodynamic therapy with confocal microscopy surveillance. (24119172)
2013
2
Efficacy of acitretin for porokeratosis in a child with chronic cutaneous graft versus host disease. (22085032)
2013
3
Inguinal porokeratosis in a Japanese man. (24282660)
2013
4
Erbium laser for the treatment of disseminated superficial actinic porokeratosis: a case report. (23927405)
2013
5
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. (22983302)
2012
6
Congenital lichenoid porokeratosis. (23075649)
2012
7
Eruptive pruritic papular porokeratosis. (23075653)
2012
8
Linear porokeratosis with nail dystrophy. (21697042)
2011
9
Squamous cell carcinoma arising from giant porokeratosis. (21605250)
2011
10
Development of disseminated superficial porokeratosis in a patient with complicated acute pancreatitis. (21426871)
2011
11
Squamous Cell Carcinoma Developing within Lesions of Disseminated Superficial Actinic Porokeratosis. (22148029)
2011
12
Disseminated superficial porokeratosis. (21163171)
2010
13
Hyperkeratotic variant of porokeratosis Mibelli with dermal amyloid deposits. (20536654)
2010
14
Reassessment of microarray expression data of porokeratosis by quantitative real-time polymerase chain reaction. (19615027)
2010
15
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
16
Clinical and dermoscopic features of porokeratosis of Mibelli. (19153357)
2009
17
Disseminated superficial actinic porokeratosis diagnosed by dermoscopy. (18289344)
2008
18
Fake sun tan diagnosis of porokeratosis. (16441643)
2006
19
A thick lichenified plaque on the ventral penile shaft. Penile porokeratosis of Mibelli. (16983014)
2006
20
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
21
Gene expression profiling of porokeratosis demonstrates similarities with psoriasis. (15491325)
2004
22
Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. (15149516)
2004
23
Linear porokeratosis with underlying bony abnormalities. (12080953)
2002
24
Porokeratosis in the elderly: a new subtype of disseminated superficial actinic porokeratosis. (11028869)
2000
25
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
26
Linear porokeratosis of mibelli: successful treatment with cryotherapy. (10468843)
1999
27
Overexpression of p2lWaf1/Cip1 immunohistochemical staining in Bowen's disease, but not in disseminated superficial porokeratosis. (10583111)
1999
28
A sporadic case of porokeratosis plantaris palmaris et disseminata. (9580830)
1998
29
Disseminated superficial porokeratosis in a patient with chronic liver disease. (9267112)
1997
30
Disseminated superficial porokeratosis: an eruptive pruritic papular variant. (9407190)
1997
31
Disseminated superficial porokeratosis after autologous bone marrow transplantation. (9012935)
1997
32
Inflammatory disseminated superficial porokeratosis followed by regression. (7756132)
1995
33
Overexpression of p53 in disseminated superficial actinic porokeratosis with and without malignant degeneration. (7887670)
1995
34
Generalized linear porokeratosis treated with etretinate. (7726603)
1995
35
Porokeratosis of Mibelli following heart transplant. (1737691)
1992
36
Porokeratosis arising in a burn scar. (1894772)
1991
37
Porokeratosis and malignant skin tumors. (1997471)
1991
38
Chromosomal instability and cellular hypersensitivity to X-radiation of cultured fibroblasts derived from porokeratosis patients' skin. (2374563)
1990
39
Porokeratosis of Mibelli with underlying hemangioma treated by the flashlamp-pumped pulsed dye laser. (2261799)
1990
40
Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli. (2790776)
1989
41
Disseminated superficial actinic porokeratosis with sterile spongiform pustular dermatitis. (3074097)
1988
42
Cytological demonstration of abnormal DNA ploidy in the epidermis of porokeratosis. (3355226)
1988
43
Disseminated superficial actinic porokeratosis: a condition often mistaken for actinic keratoses. (3600447)
1987
44
Annular hyperkeratosis. Porokeratosis of Mibelli. (3707178)
1986
45
Porokeratosis in primary biliary cirrhosis during plasmapheresis. (3771845)
1986
46
Punctate porokeratosis [syndrome]. (6826819)
1983
47
Disseminated superficial porokeratosis: rapid therapeutic response to 5-fluorouracil. (6617251)
1983
48
Generalized eruptive porokeratosis of Mibelli with associated psoriasis. (1202108)
1975
49
Porokeratosis of Mibelli after renal transplantation. (4590663)
1974
50
Porokeratosis of Mibelli. (15395273)
1949

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