Aliases & Classifications for Porokeratosis

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Sources:
10Disease Ontology, 47Novoseek, 36MeSH, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 10 47 36
Disseminated Superficial Actinic Porokeratosis 10 45 51
Porokeratosis, Disseminated Superficial Actinic, 1 65
Porokeratosis, Disseminated Superficial Actinic 65
 
Porokeratosis of Mibelli 65
Porokeratosis, Nos 10
Dsap 45


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology10 DOID:3805
MeSH36 D017499
NCIt42 C85019
Orphanet51 79152
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265970

Summaries for Porokeratosis

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NIH Rare Diseases:45 Disseminated superficial actinic porokeratosis (dsap) is a skin condition that causes dry patches. it is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). dsap usually starts during the third or fourth decade of life and rarely affects children. lesions usually appear in summer and improve or disappear during winter. while it is usually benign (not cancerous), squamous cell carcinoma or bowen’s disease may occasionally develop within patches. dsap may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of dsap). some cases are caused by a change (mutation) in the mvk or sart3 genes. treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy. last updated: 3/12/2015

MalaCards based summary: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to porokeratosis 3, disseminated superficial actinic and porokeratosis plantaris palmaris et disseminata, and has symptoms including hyperkeratosis, hypohidrosis and aplasia/hypoplasia of the skin. An important gene associated with Porokeratosis is SLC17A9 (Solute Carrier Family 17 (Vesicular Nucleotide Transporter), Member 9), and among its related pathways are Vemurafenib Pathway, Pharmacodynamics and Regulation of actin cytoskeleton. Affiliated tissues include skin, bone and bone marrow.

Wikipedia:68 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1porokeratosis 3, disseminated superficial actinic31.2MVK, SART3
2porokeratosis plantaris palmaris et disseminata31.0EMILIN2, MVK, SLC17A9
3porokeratosis of mibelli11.0
4linear porokeratosis10.9
5punctate porokeratosis10.7
6porokeratosis 8, disseminated superficial actinic type10.6
7psoriasis10.5
8cdags syndrome10.4
9hepatitis10.3
10porokeratosis, disseminated superficial actinic 210.3
11amyloidosis10.3
12hepatitis c virus10.2
13myelodysplastic syndrome10.2
14craniosynostosis10.2
15hepatitis c10.2
16lichen planus10.2
17pemphigus10.2
18cholangiocarcinoma10.1
19liver disease10.1
20pemphigus foliaceus10.1
21dermatitis10.1
22keratosis10.1
23pseudoainhum10.1
24flna-related periventricular nodular heterotopia10.0FGFR2, FGFR3
25plagiocephaly and x-linked mental retardation10.0FGFR2, FGFR3
26osteoglophonic dysplasia10.0FGFR2, FGFR3
27von economo's disease10.0FGFR2, FGFR3
28muenke syndrome10.0FGFR2, FGFR3
29beare-stevenson cutis gyrata syndrome10.0FGFR2, FGFR3
30jackson-weiss syndrome10.0FGFR2, FGFR3
31barbiturate abuse10.0FGFR2, FGFR3
32neonatal abstinence syndrome10.0FGFR2, FGFR3
33testicular brenner tumor10.0FGFR2, FGFR3
34ischemia10.0FLG, LOR
35acrodermatitis10.0FGFR2, FGFR3
36braddock syndrome10.0FLG, IVL
37thanatophoric dysplasia, type i10.0FGFR2, FGFR3
38ichthyosis vulgaris10.0FLG, LOR
39ichthyosis lamellar 210.0FLG, IVL
40apert syndrome10.0FGFR2, FGFR3
41ovarian endometrial cancer10.0FLG, LOR
42gonococcal iridocyclitis10.0FGFR2, FGFR3
43maculopapular lupus rash10.0FLG, IVL
44bowenoid papulosis10.0FLG, IVL
45rheumatoid arthritis10.0
46colorectal cancer10.0
47systemic lupus erythematosus10.0
48hepatocellular carcinoma10.0
49esophageal cancer10.0
50nijmegen breakage syndrome10.0

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Symptoms:

 51 (show all 8)
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • skin photosensitivity
  • pruritus/itching
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance

HPO human phenotypes related to Porokeratosis:

(show all 8)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 hypohidrosis hallmark (90%) HP:0000966
3 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
4 pruritus typical (50%) HP:0000989
5 cutaneous photosensitivity typical (50%) HP:0000992
6 abnormality of skin pigmentation typical (50%) HP:0001000
7 aplasia/hypoplasia of the skin typical (50%) HP:0008065
8 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Porokeratosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue SmearCompletedNCT00218868

Search NIH Clinical Center for Porokeratosis


Cochrane evidence based reviews: Porokeratosis

Genetic Tests for Porokeratosis

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Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

33
Skin, Bone, Bone marrow, Liver, Colon, T cells, 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 574)
idTitleAuthorsYear
1
Genital Porokeratosis: A Distinct Clinical Variant? (26120171)
2015
2
Inflammatory Disseminated Pruritic Porokeratosis With a Good Response to Ciclosporin. (26546028)
2015
3
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
4
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
5
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. (24553841)
2014
6
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
7
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
8
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
9
Split-face trial of CO(2) laser-induced ring abrasion and high-dose tacalcitol in the treatment of disseminated superficial actinic porokeratosis. (22220840)
2012
10
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
11
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
12
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
13
Disseminated superficial porokeratosis developed by immunosuppression due to rheumatoid arthritis treatment. (19691753)
2009
14
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
15
Porokeratosis: Two Faces, One Family. (20652115)
2009
16
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
17
Unusual evolution of giant porokeratosis developing in two renal transplant patients. (18613889)
2008
18
Treatment of disseminated superficial actinic porokeratosis with topical diclofenac gel: a case series. (18554227)
2008
19
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
20
Porokeratosis confined to the genital area: a report of three cases. (18193505)
2008
21
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
22
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
23
Successful treatment of porokeratosis with topical imiquimod in 2 immunosuppressed cases. (16865875)
2006
24
Medical pearl: Gentian violet to highlight the cornoid lamella in disseminated superficial actinic porokeratosis. (15761432)
2005
25
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
26
Giant actinic porokeratosis of the scalp. (14511006)
2003
27
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
28
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
29
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
30
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
31
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
32
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
33
Disseminated superficial actinic porokeratosis: treatment with topical tacalcitol. (10071323)
1999
34
Genitoanocrural porokeratosis following chronic exposure to benzene. (9667106)
1998
35
A sporadic case of porokeratosis plantaris palmaris et disseminata. (9580830)
1998
36
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
37
Porokeratosis large skin lesions are susceptible to skin cancer development: histological and cytological explanation for the susceptibility. (8491759)
1993
38
Pseudoainhum in porokeratosis of Mibelli. (1563285)
1992
39
Porokeratosis of Mibelli and immunosuppression. (2025940)
1991
40
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
41
Porokeratosis of Mibelli in an immunosuppressed patient. (2952798)
1987
42
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
1986
43
Annular hyperkeratosis. Porokeratosis of Mibelli. (3707178)
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC17A9NM_022082.3(SLC17A9): c.932G> A (p.Arg311Gln)single nucleotide variantPathogenicrs606231251GRCh38Chr 20, 62965153: 62965153
2SLC17A9NM_022082.3(SLC17A9): c.25C> T (p.Arg9Cys)single nucleotide variantPathogenicrs548728088GRCh38Chr 20, 62952855: 62952855
3MVKNM_000431.2(MVK): c.1039+1G> Asingle nucleotide variantPathogenicrs104895362GRCh37Chr 12, 110032987: 110032987
4NM_000431.2(MVK): c.-1880_527+533deldeletionPathogenicGRCh37Chr 12, 110009813: 110019888
5MVKNM_000431.3(MVK): c.764T> C (p.Leu255Pro)single nucleotide variantPathogenicrs397514570GRCh37Chr 12, 110028662: 110028662
6MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
7MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245
8MVKNM_000431.3(MVK): c.122T> C (p.Leu41Pro)single nucleotide variantPathogenicrs397514571GRCh37Chr 12, 110013846: 110013846
9MVKNM_000431.3(MVK): c.1039+2T> Csingle nucleotide variantPathogenicrs398122910GRCh37Chr 12, 110032988: 110032988
10MVKNM_000431.3(MVK): c.1094T> C (p.Phe365Ser)single nucleotide variantPathogenicrs398122911GRCh37Chr 12, 110034285: 110034285

Expression for genes affiliated with Porokeratosis

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Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

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Pathways related to Porokeratosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR2, FGFR3
2
Show member pathways
8.5ARPC3, FGFR2, FGFR3, SSH1

GO Terms for genes affiliated with Porokeratosis

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Cellular components related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.7IVL, LOR

Biological processes related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:00703079.6FGFR2, FGFR3
2negative regulation of mitotic nuclear divisionGO:00458399.6FGFR2, FGFR3
3positive regulation of phospholipase activityGO:00105189.4FGFR2, FGFR3
4bone mineralizationGO:00302829.3FGFR2, FGFR3
5bone morphogenesisGO:00603499.2FGFR2, FGFR3
6keratinocyte differentiationGO:00302169.0FLG, IVL, LOR

Molecular functions related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.3FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.3FGFR2, FGFR3

Sources for Porokeratosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet