MCID: PRK001
MIFTS: 45

Porokeratosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

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Sources:
11Disease Ontology, 13DISEASES, 25GTR, 48Novoseek, 37MeSH, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 11 13 25 48 37
Disseminated Superficial Actinic Porokeratosis 11 46 52
Porokeratosis, Disseminated Superficial Actinic, 1 66
Porokeratosis, Disseminated Superficial Actinic 66
 
Porokeratosis of Mibelli 66
Porokeratosis, Nos 11
Dsap 46

Characteristics:

Orphanet epidemiological data:

52
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:3805
ICD1028 L56.5
ICD9CM30 692.75
MeSH37 D017499
NCIt43 C85019
Orphanet52 ORPHA79152
ICD10 via Orphanet29 Q82.8
UMLS via Orphanet67 C0265970

Summaries for Porokeratosis

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NIH Rare Diseases:46 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 linear porokeratosis and porokeratosis of mibelli, and has symptoms including hyperkeratosis, hypohidrosis and aplasia/hypoplasia of the skin. An important gene associated with Porokeratosis is PMVK (Phosphomevalonate Kinase), and among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Affiliated tissues include skin, bone and bone marrow.

Wikipedia:69 Porokeratosis (or parakeratosis) is a specific disorder of keratinization that is characterized... more...

Related Diseases for Porokeratosis

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Diseases in the Porokeratosis family:

Porokeratosis 9, Multiple Types Porokeratosis 7, Multiple Types

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1linear porokeratosis12.2
2porokeratosis of mibelli12.2
3porokeratosis 3, disseminated superficial actinic12.2
4punctate porokeratosis12.2
5porokeratosis 2, palmar, plantar, and disseminated type12.1
6porokeratosis 7, multiple types12.1
7porokeratosis 8, disseminated superficial actinic type12.1
8porokeratosis 9, multiple types12.0
9porokeratosis, disseminated superficial actinic 211.9
10cdags syndrome11.4
11punctate palmoplantar keratoderma type 210.9
12psoriasis10.2
13hepatitis10.0
14lymphoma10.0
15amyloidosis10.0
16hepatitis c virus9.9
17myelodysplastic syndrome9.9
18craniosynostosis9.9
19keratosis9.9
20hepatitis c9.9
21dermatitis9.9
22pemphigus9.9
23lichen planus9.9
24liver disease9.8
25pemphigus foliaceus9.8
26cutaneous t cell lymphoma9.8
27pseudoainhum9.8
28cystic basal cell carcinoma9.8IVL, LOR
29rheumatoid arthritis9.7
30colorectal cancer9.7
31systemic lupus erythematosus9.7
32hepatocellular carcinoma9.7
33esophageal cancer9.7
34cystic fibrosis9.7
35nijmegen breakage syndrome9.7
36rothmund-thomson syndrome9.7
37multiple myeloma9.7
38pseudoxanthoma elasticum9.7
39arthritis9.7
40b-cell lymphomas9.7
41burn scar9.7
42burns9.7
43crohn's disease9.7
44diffuse large b-cell lymphoma9.7
45follicular lymphoma9.7
46glomerulonephritis9.7
47hemangioma9.7
48leukemia9.7
49lymphedema9.7
50pemphigus vulgaris9.7

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Symptoms:

 52
  • pruritus
  • squamous cell carcinoma
  • porokeratosis

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

UMLS symptoms related to Porokeratosis:


exanthema

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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Genetic tests related to Porokeratosis:

id Genetic test Affiliating Genes
1 Porokeratosis25

Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

34
Skin, Bone, Bone marrow, T cells, Colon, Liver, 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 607)
idTitleAuthorsYear
1
Pigmented Porokeratosis. A Further Variant? (26894774)
2016
2
Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy. (27502333)
2016
3
Genital Porokeratosis: A Distinct Clinical Variant? (26120171)
2015
4
Porokeratosis - Head to toe: An unusual presentation. (25821731)
2015
5
Coexistence of multiple variants of porokeratosis. (25994898)
2015
6
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
7
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
8
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
9
Cornoid Lamellation Revisited: Apropos of Porokeratosis With Emphasis on Unusual Clinicopathological Variants. (24423932)
2014
10
A case of disseminated superficial porokeratosis associated with giant porokeratosis in pregnancy. (25284858)
2014
11
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
12
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
13
Resident rounds: Part III generalized linear porokeratosis. (22648230)
2012
14
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
15
Porokeratosis ptychotropica. (21527368)
2011
16
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
17
Congenital linear porokeratosis with pseudoainhum. (20956098)
2010
18
Topical treatment of disseminated superficial actinic porokeratosis with hypericin-photodynamic therapy: a case report. (20510308)
2010
19
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
20
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
21
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
22
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
23
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
24
Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli. (17397946)
2008
25
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
26
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
27
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. (15459975)
2004
28
Giant actinic porokeratosis of the scalp. (14511006)
2003
29
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
30
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
31
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
32
Disseminated porokeratosis associated with chronic renal failure: A new type of disseminated porokeratosis? (11115182)
2000
33
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
34
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
35
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
36
A case of disseminated superficial actinic porokeratosis subsequent to renal transplantation. (9065706)
1997
37
Disseminated superficial porokeratosis in a patient with chronic liver disease. (9267112)
1997
38
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
39
Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear, and punctate porokeratosis. (7896495)
1995
40
Hyperkeratotic form of porokeratosis of Mibelli. (8125699)
1993
41
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
42
Squamous cell carcinoma arising from a lesion of disseminated superficial actinic porokeratosis. (1806324)
1991
43
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
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
Porokeratosis Mibelli: a patient with oral manifestations. (3868178)
1985
47
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. (2934437)
1985
48
Linear porokeratosis and other linear cutaneous eruptions of childhood. (517477)
1979
49
Letter: Linear porokeratosis. (4852843)
1974
50
Linear porokeratosis in a family with DSAP. (5048228)
1972

Variations for Porokeratosis

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Clinvar genetic disease variations for Porokeratosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PMVKNM_006556.3(PMVK): c.412C> T (p.Arg138Ter)single nucleotide variantPathogenicrs745983207GRCh38Chr 1, 154926384: 154926384
2PMVKNM_006556.3(PMVK): c.550delC (p.Leu184Terfs)deletionPathogenicGRCh38Chr 1, 154925158: 154925158
3MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
4MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245

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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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:00015339.9IVL, LOR
2peroxisomeGO:00057779.8MVD, MVK, PMVK

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

idNameGO IDScoreTop Affiliating Genes
1isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:001928710.4MVD, MVK, PMVK
2keratinizationGO:003142410.1IVL, LOR
3isoprenoid biosynthetic processGO:000829910.0MVD, MVK, PMVK
4peptide cross-linkingGO:00181499.9IVL, LOR
5cholesterol biosynthetic processGO:00066959.6FDPS, MVD, MVK, PMVK
6keratinocyte differentiationGO:00302169.5IVL, LOR, S100A7

Sources for Porokeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet