DSAP
MCID: PRK001
MIFTS: 50

Porokeratosis (DSAP) malady

Rare diseases, Skin diseases categories
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Summaries for Porokeratosis

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Wikipedia:65 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

MalaCards based summary: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to psoriasis and lichen planus, and has symptoms including An important gene associated with Porokeratosis is MVK (mevalonate kinase), 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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Porokeratosis, Aliases & Descriptions:

Name: Porokeratosis 8 44
Disseminated Superficial Actinic Porokeratosis 8 42
Porokeratosis, Disseminated Superficial Actinic, 1 62
Porokeratosis, Disseminated Superficial Actinic 62
 
Porokeratosis of Mibelli 62
Porokeratosis, Nos 8
Dsap 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:3805
NCIt39 C85019
MeSH34 D017499

Related Diseases for Porokeratosis

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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
1psoriasis30.8IVL, FLG, LOR, S100A7
2lichen planus30.6FLG, IVL
3keratosis30.1SSH1, LOR, SART3, FLG, IVL
4basal cell carcinoma30.1S100A7, TP53, IVL
5dermatitis30.0IVL, FLG, LOR, S100A7
6porokeratosis of mibelli11.0
7linear porokeratosis10.9
8punctate porokeratosis10.6
9porokeratosis plantaris palmaris et disseminata10.6
10porokeratosis 3, disseminated superficial actinic10.4
11craniosynostosis, anal anomalies, and porokeratosis10.4
12epidermolytic hyperkeratosis10.4LOR, FLG
13porokeratosis 8, disseminated superficial actinic type10.4
14ichthyosis lamellar 110.3IVL, FLG
15bowen syndrome10.3IVL, FLG
16nonepidermolytic palmoplantar keratoderma10.3LOR, FLG
17epidermolysis bullosa simplex10.3FLG, IVL
18leukoplakia10.3FLG, IVL
19ichthyosis vulgaris10.3LOR, FLG, IVL
20molluscum contagiosum10.3LOR, FLG, IVL
21hepatitis10.3
22congenital ichthyosiform erythroderma10.3LOR, FLG, IVL
23atopic dermatitis10.2LOR, FLG
24ductal carcinoma in situ10.2TP53, S100A7
25amyloidosis10.2
26porokeratosis, disseminated superficial actinic 110.2
27porokeratosis, disseminated superficial actinic 210.2
28cholesteatoma10.2FLG, IVL
29craniosynostosis10.1
30myelodysplastic syndromes10.1
31hepatitis c10.1
32pemphigus10.1
33hepatitis c virus10.1
34skin disease10.1IVL, FLG, LOR, S100A7
35bullous pemphigoid10.1IVL, FLG
36papilloma10.1IVL, TP53, FLG, LOR
37cholangiocarcinoma10.1
38liver disease10.1
39pemphigus foliaceus10.1
40cutaneous t cell lymphoma10.1
41pseudoainhum10.1
42porokeratosis 5, disseminated superficial actinic10.1
43porokeratosis 2, palmar, plantar, and disseminated10.1
44porokeratosis 4, disseminated superficial actinic10.1
45porokeratosis 710.1
46porokeratosis 610.1
47palmoplantar porokeratosis of mantoux10.1
48acute lymphoblastic leukemia9.9
49arthritis9.9
50b-cell lymphomas9.9

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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HPO human phenotypes related to Porokeratosis:

(show all 6)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 pruritus typical (50%) HP:0000989
3 cutaneous photosensitivity typical (50%) HP:0000992
4 abnormality of skin pigmentation typical (50%) HP:0001000
5 aplasia/hypoplasia of the skin typical (50%) HP:0008065
6 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Porokeratosis

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Drug clinical trials:

Search ClinicalTrials for Porokeratosis

Search NIH Clinical Center for Porokeratosis

Genetic Tests for Porokeratosis

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Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

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

Animal Models for Porokeratosis or affiliated genes

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Publications for Porokeratosis

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Articles related to Porokeratosis:

(show top 50)    (show all 546)
idTitleAuthorsYear
1
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
2
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
3
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. (24553841)
2014
4
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
5
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
6
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
7
Split-face trial of CO(2) laser-induced ring abrasion and high-dose tacalcitol in the treatment of disseminated superficial actinic porokeratosis. (22220840)
2012
8
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
9
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
10
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
11
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
12
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
13
Porokeratosis: Two Faces, One Family. (20652115)
2009
14
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
15
Unusual evolution of giant porokeratosis developing in two renal transplant patients. (18613889)
2008
16
Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series. (18554227)
2008
17
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
18
Porokeratosis confined to the genital area: a report of three cases. (18193505)
2008
19
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
20
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
21
Successful treatment of porokeratosis with topical imiquimod in 2 immunosuppressed cases. (16865875)
2006
22
Medical pearl: Gentian violet to highlight the cornoid lamella in disseminated superficial actinic porokeratosis. (15761432)
2005
23
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
24
Giant actinic porokeratosis of the scalp. (14511006)
2003
25
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
26
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
27
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
28
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
29
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
30
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
31
Disseminated superficial actinic porokeratosis: treatment with topical tacalcitol. (10071323)
1999
32
Genitoanocrural porokeratosis following chronic exposure to benzene. (9667106)
1998
33
A sporadic case of porokeratosis plantaris palmaris et disseminata. (9580830)
1998
34
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
35
Porokeratosis large skin lesions are susceptible to skin cancer development: histological and cytological explanation for the susceptibility. (8491759)
1993
36
Cutaneous T-cell lymphoma with porokeratosis-like lesions. (1517498)
1992
37
Pseudoainhum in porokeratosis of Mibelli. (1563285)
1992
38
Porokeratosis of Mibelli and immunosuppression. (2025940)
1991
39
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
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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Clinvar genetic disease variations for Porokeratosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
2MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019246

Expression for genes affiliated with Porokeratosis

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Expression patterns in normal tissues for genes affiliated with Porokeratosis

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Pathways for genes affiliated with Porokeratosis

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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:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 61Tocris Bioscience
See all sources

Compounds related to Porokeratosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1collodion4410.1LOR, IVL
2epsilon-(gamma-glutamyl)lysine4410.0IVL, LOR
3farnesol44 28 24 1113.0MVK, IVL
4dithranol4410.0IVL, FLG
5arsenate449.9IVL, FLG
6methylmethanesulfonate449.9TP53, NBN
7hematoxylin449.8IVL, FLG, LOR
8histidine449.7MVK, LOR, FLG, FECH
9calcipotriol44 61 28 1112.7FLG, IVL
10proline449.4MVK, LOR, TP53, IVL
11retinoid449.2FLG, TP53, IVL
12retinoic acid44 249.8IVL, TP53, FLG, LOR, S100A7
13serine448.8IVL, NBN, TP53, FECH, FLG, LOR

GO Terms for genes affiliated with Porokeratosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet