DSAP
MCID: PRK001
MIFTS: 49

Porokeratosis (DSAP) malady

Rare diseases, Skin diseases categories

Summaries for Porokeratosis

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Sources:
66Wikipedia, 34MalaCards
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Wikipedia:66 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 psoriasis 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 are DNA damage ATM ATR regulation of G1 S checkpoint and DNA damage Role of Brca1 and Brca2 in DNA repair. 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:
9Disease Ontology, 46Novoseek, 44NIH Rare Diseases, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

porokeratosis 9 46
disseminated superficial actinic porokeratosis 9 44
porokeratosis, disseminated superficial actinic, 1 63
porokeratosis, disseminated superficial actinic 63
porokeratosis of mibelli 63
porokeratosis, nos 9
dsap 44


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Disease Ontology9 DOID:3805
NCIt41 C85019
MeSH36 D017499

Related Diseases for Porokeratosis

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Sources:
18GeneCards, 19GeneDecks
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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 100)
idRelated DiseaseScoreTop Affiliating Genes
1psoriasis30.6IVL, FLG, LOR, S100A7
2lichen planus30.3FLG, IVL
3keratosis30.1SSH1, LOR, SART3, FLG, IVL
4basal cell carcinoma29.9S100A7, TP53, IVL
5dermatitis29.9IVL, FLG, LOR, S100A7
6porokeratosis of mibelli10.9
7linear porokeratosis10.8
8punctate porokeratosis10.6
9porokeratosis plantaris palmaris et disseminata10.5
10craniosynostosis, anal anomalies, and porokeratosis10.4
11porokeratosis 3, disseminated superficial actinic10.4
12hepatitis10.2
13porokeratosis, disseminated superficial actinic 110.2
14amyloidosis10.2
15porokeratosis, disseminated superficial actinic 210.2
16hepatitis c10.1
17pemphigus10.1
18myelodysplastic syndromes10.1
19hepatitis c virus10.1
20epidermolytic hyperkeratosis10.1LOR, FLG
21congenital ichthyosiform erythroderma10.1IVL, FLG
22bowen syndrome10.1IVL, FLG
23nonepidermolytic palmoplantar keratoderma10.1LOR, FLG
24epidermolysis bullosa simplex10.1FLG, IVL
25leukoplakia10.1FLG, IVL
26ichthyosis vulgaris10.1LOR, FLG, IVL
27molluscum contagiosum10.1LOR, FLG, IVL
28atopic dermatitis10.1LOR, FLG
29ductal carcinoma in situ10.1TP53, S100A7
30cholangiocarcinoma10.0
31craniosynostosis10.0
32cutaneous t cell lymphoma10.0
33liver disease10.0
34pemphigus foliaceus10.0
35porokeratosis 5, disseminated superficial actinic10.0
36porokeratosis 2, palmar, plantar, and disseminated10.0
37porokeratosis 4, disseminated superficial actinic10.0
38porokeratosis 710.0
39porokeratosis 610.0
40palmoplantar porokeratosis of mantoux10.0
41cholesteatoma10.0FLG, IVL
42skin disease10.0IVL, FLG, LOR, S100A7
43bullous pemphigoid10.0IVL, FLG
44papilloma10.0IVL, TP53, FLG, LOR
45breast cancer10.0IVL, NBN, TP53, S100A7
46tongue squamous cell carcinoma10.0S100A7, FLG, TP53, NBN, IVL
47graft versus host disease9.9
48burn scar9.9
49burns9.9
50rothmund-thomson syndrome9.9

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Drugs & Therapeutics for Porokeratosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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Sources:
34MalaCards
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MalaCards organs/tissues related to Porokeratosis:

34
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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Sources:
53PubMed
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Articles related to Porokeratosis:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Cornoid Lamellation Revisited: Apropos of Porokeratosis With Emphasis on Unusual Clinicopathological Variants. (24423932)
2014
2
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
3
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
4
Split-face trial of CO(2) laser-induced ring abrasion and high-dose tacalcitol in the treatment of disseminated superficial actinic porokeratosis. (22220840)
2012
5
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
6
Porokeratosis ptychotropica. (21527368)
2011
7
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
8
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
9
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
10
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
11
Porokeratosis: Two Faces, One Family. (20652115)
2009
12
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
13
Unusual evolution of giant porokeratosis developing in two renal transplant patients. (18613889)
2008
14
Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series. (18554227)
2008
15
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
16
Porokeratosis confined to the genital area: a report of three cases. (18193505)
2008
17
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
18
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
19
Medical pearl: Gentian violet to highlight the cornoid lamella in disseminated superficial actinic porokeratosis. (15761432)
2005
20
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
21
Giant actinic porokeratosis of the scalp. (14511006)
2003
22
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
23
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
24
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
25
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
26
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
27
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
28
Disseminated superficial actinic porokeratosis: treatment with topical tacalcitol. (10071323)
1999
29
Linear warty lesions in a child. Linear porokeratosis. (10606069)
1999
30
Genitoanocrural porokeratosis following chronic exposure to benzene. (9667106)
1998
31
A sporadic case of porokeratosis plantaris palmaris et disseminata. (9580830)
1998
32
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
33
Porokeratosis of Mibelli and HIV-infection. (8737872)
1996
34
Porokeratosis large skin lesions are susceptible to skin cancer development: histological and cytological explanation for the susceptibility. (8491759)
1993
35
Cutaneous T-cell lymphoma with porokeratosis-like lesions. (1517498)
1992
36
Pseudoainhum in porokeratosis of Mibelli. (1563285)
1992
37
Porokeratosis of Mibelli and immunosuppression. (2025940)
1991
38
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
39
Reticular erythema with ostial porokeratosis. (2335584)
1990
40
Porokeratosis of Mibelli in an immunosuppressed patient. (2952798)
1987
41
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
1986
42
Annular hyperkeratosis. Porokeratosis of Mibelli. (3707178)
1986
43
Psoralens and ultraviolet A, immunosuppression, and porokeratosis. (3950130)
1986
44
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
45
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
46
Reticulated porokeratosis. A unique variant of porokeratosis. (4062335)
1985
47
Porokeratosis Mibelli: a patient with oral manifestations. (3868178)
1985
48
Linear porokeratosis and other linear cutaneous eruptions of childhood. (517477)
1979
49
Linear porokeratosis of Mibelli. (5012146)
1972
50
Porokeratosis of Mibelli. (15395273)
1949

Variations for Porokeratosis

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Porokeratosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.764T> C (p.Leu255Pro)single nucleotide variantPathogenicrs397514570GRCh37Chr 12, 110028662: 110028662
2MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
3MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019246
4MVKNM_000431.3(MVK): c.122T> C (p.Leu41Pro)single nucleotide variantPathogenicrs397514571GRCh37Chr 12, 110013846: 110013846
5MVKMVK: c.1039+2T> Csingle nucleotide variantPathogenicrs398122910GRCh37Chr 12, 110032988: 110032988
6MVKNM_000431.3(MVK): c.1094T> C (p.Phe365Ser)single nucleotide variantPathogenicrs398122911GRCh37Chr 12, 110034285: 110034285

Expression for genes affiliated with Porokeratosis

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2BioGPS, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database
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Pathways related to Porokeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TP53, NBN
29.9TP53, NBN
39.9TP53, NBN

Compounds for genes affiliated with Porokeratosis

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Porokeratosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1collodion4610.1IVL, LOR
2epsilon-(gamma-glutamyl)lysine4610.0IVL, LOR
3farnesol46 30 25 1213.0IVL, MVK
4dithranol4610.0FLG, IVL
5arsenate469.9FLG, IVL
6methylmethanesulfonate469.9NBN, TP53
7hematoxylin469.8LOR, FLG, IVL
8histidine469.7FECH, FLG, LOR, MVK
9calcipotriol46 62 30 1212.7IVL, FLG
10proline469.4LOR, TP53, IVL, MVK
11retinoid469.2IVL, TP53, FLG
12retinoic acid46 259.8IVL, LOR, S100A7, FLG, TP53
13serine468.8IVL, NBN, TP53, FECH, FLG, LOR

GO Terms for genes affiliated with Porokeratosis

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17Gene Ontology
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Cellular components related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:0015339.8LOR, IVL
2replication forkGO:0056579.6TP53, NBN

Biological processes related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediatorGO:0303309.9TP53, NBN
2intrinsic apoptotic signaling pathwayGO:0971939.9TP53, NBN
3peptide cross-linkingGO:0181499.7IVL, LOR
4keratinizationGO:0314249.5LOR, IVL
5keratinocyte differentiationGO:0302169.2S100A7, LOR, FLG, IVL

Molecular functions related to Porokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.8LOR, IVL
2damaged DNA bindingGO:0036849.6TP53, NBN
3structural molecule activityGO:0051989.5LOR, FLG, IVL

Products for genes affiliated with Porokeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porokeratosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet