MCID: PRK001
MIFTS: 44

Porokeratosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

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Sources:
11Disease Ontology, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 11 26 49 38 13
Disseminated Superficial Actinic Porokeratosis 11 47 53
Porokeratosis, Disseminated Superficial Actinic, 1 67
Porokeratosis, Disseminated Superficial Actinic 67
 
Porokeratosis of Mibelli 67
Porokeratosis, Nos 11
Dsap 47

Characteristics:

Orphanet epidemiological data:

53
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:3805
ICD1029 L56.5
ICD9CM31 692.75
MeSH38 D017499
NCIt44 C85019
Orphanet53 ORPHA79152
UMLS via Orphanet68 C0265970
ICD10 via Orphanet30 Q82.8

Summaries for Porokeratosis

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Wikipedia:70 Porokeratosis (or parakeratosis) is a specific disorder of keratinization that is characterized... more...

MalaCards based summary: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to porokeratosis 3, disseminated superficial actinic and porokeratosis 7, multiple types, 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.

Related Diseases for Porokeratosis

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Diseases in the Porokeratosis family:

Porokeratosis 3, Multiple Types 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1porokeratosis 3, disseminated superficial actinic12.3
2porokeratosis 7, multiple types12.3
3porokeratosis 8, disseminated superficial actinic type12.3
4porokeratosis 2, palmar, plantar, and disseminated type12.2
5porokeratosis 9, multiple types12.2
6linear porokeratosis12.0
7porokeratosis of mibelli12.0
8punctate porokeratosis11.9
9porokeratosis, disseminated superficial actinic 211.8
10porokeratosis 3, multiple types11.7
11cdags syndrome11.3
12punctate palmoplantar keratoderma type 210.7
13psoriasis10.1
14foix chavany marie syndrome10.0FDPS, MVD, MVK, PMVK, SLC17A9
15positive rheumatoid factor polyarthritis10.0FDPS, MVD, MVK, PMVK, SLC17A9
16acute poisoning by drugs with membrane-stabilizing effect10.0FLG, IVL
17rectosigmoid junction neoplasm10.0FLG, LOR
18fasciolopsiasis9.9FLG, LOR
19hypertrophic or verrucous lupus erythematosus9.9FLG, IVL
20hepatitis9.9
21lymphoma9.9
22keratosis9.8
23amyloidosis9.8
24renal hypodysplasia9.8FLG, IVL
25hepatitis c virus9.8
26myelodysplastic syndrome9.8
27craniosynostosis9.8
28hepatitis c9.8
29dermatitis9.8
30pemphigus9.8
31lichen planus9.8
32bowen's disease9.8
33peritoneum cancer9.7FLG, IVL
34liver disease9.7
35pemphigus foliaceus9.7
36cutaneous t cell lymphoma9.7
37pseudoainhum9.7
38ichthyosis vulgaris9.6FLG, LOR
39cystic basal cell carcinoma9.6FLG, IVL, LOR
40portal hypertension due to infrahepatic block9.6EMILIN2, FDPS, MVD, MVK, PMVK, SLC17A9
41steroid inherited metabolic disorder9.6FLG, IVL, LOR
42small non-cleaved cell lymphoma9.6FLG, IVL, LOR
43rheumatoid arthritis9.5
44colorectal cancer9.5
45systemic lupus erythematosus9.5
46hepatocellular carcinoma9.5
47esophageal cancer9.5
48cystic fibrosis9.5
49nijmegen breakage syndrome9.5
50rothmund-thomson syndrome9.5

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Human phenotypes related to Porokeratosis:

 63 53 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis63 hallmark (90%) HP:0000962
2 hypohidrosis63 hallmark (90%) HP:0000966
3 aplasia/hypoplasia of the skin63 hallmark (90%) HP:0008065
4 pruritus63 53 typical (50%) Occasional (29-5%) HP:0000989
5 cutaneous photosensitivity63 typical (50%) HP:0000992
6 abnormality of skin pigmentation63 typical (50%) HP:0001000
7 neoplasm of the skin63 occasional (7.5%) HP:0008069
8 squamous cell carcinoma53 Occasional (29-5%)
9 porokeratosis53 Very frequent (99-80%)

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 Porokeratosis26

Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

35
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 616)
idTitleAuthorsYear
1
Pigmented Porokeratosis. A Further Variant? (26894774)
2016
2
A Case of Psoriasis Encircled by Porokeratosis. (27904191)
2016
3
Two cases of disseminated superficial actinic porokeratosis treated with daylight-mediated photodynamic therapy. (27502333)
2016
4
Genital Porokeratosis: A Distinct Clinical Variant? (26120171)
2015
5
Porokeratosis - Head to toe: An unusual presentation. (25821731)
2015
6
Coexistence of multiple variants of porokeratosis. (25994898)
2015
7
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. (24781643)
2014
8
Porokeratosis ptychotropica: a rare variant of porokeratosis. (24945649)
2014
9
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. (24898929)
2014
10
Cornoid Lamellation Revisited: Apropos of Porokeratosis With Emphasis on Unusual Clinicopathological Variants. (24423932)
2014
11
A case of disseminated superficial porokeratosis associated with giant porokeratosis in pregnancy. (25284858)
2014
12
Dermoscopy and confocal microscopy clues in the diagnosis of psoriasis and porokeratosis. (24124843)
2013
13
Association of primary cutaneous lichenoid amyloidosis and disseminated superficial actinic porokeratosis without superimposition. (24135333)
2013
14
Resident rounds: Part III generalized linear porokeratosis. (22648230)
2012
15
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. (21161278)
2011
16
Porokeratosis ptychotropica. (21527368)
2011
17
Porokeratosis in a patient with hepatitis of unclear etiology. (20232588)
2010
18
Congenital linear porokeratosis with pseudoainhum. (20956098)
2010
19
Topical treatment of disseminated superficial actinic porokeratosis with hypericin-photodynamic therapy: a case report. (20510308)
2010
20
Follicular porokeratosis of Mibelli on the buttocks. (18627390)
2009
21
Genitogluteal porokeratosis: 10 years to make the diagnosis! (19590410)
2009
22
A rare case of porokeratosis ptychotropica and coexistent linear porokeratosis in a 10-year-old boy. (19747331)
2009
23
Small lesions of porokeratosis show a normal proliferation rate with MIB-1. (18454266)
2008
24
Segmental porokeratosis after radiation therapy for follicular lymphoma. (18191708)
2008
25
Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli. (17397946)
2008
26
A case of porokeratosis associated with chronic renal failure. (17062086)
2006
27
Dermoscopy of disseminated superficial actinic porokeratosis. (15545557)
2004
28
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. (15459975)
2004
29
Giant actinic porokeratosis of the scalp. (14511006)
2003
30
Co-existence of variants of porokeratosis: a case report and a review of the literature. (12081163)
2002
31
Disseminated porokeratosis with fatal metastatic squamous cell carcinoma: an additional case of "malignant disseminated porokeratosis". (11979075)
2002
32
Disseminated superficial actinic porokeratosis associated with topical PUVA. (11004640)
2000
33
Disseminated porokeratosis associated with chronic renal failure: A new type of disseminated porokeratosis? (11115182)
2000
34
Disseminated superficial actinic porokeratosis in a patient with systemic lupus erythematosus. (10583141)
1999
35
Superficial disseminate porokeratosis in a patient with myelodysplastic syndrome. (10192166)
1999
36
Disseminated superficial actinic porokeratosis like drug eruption: a case report. (10331575)
1999
37
A case of disseminated superficial actinic porokeratosis subsequent to renal transplantation. (9065706)
1997
38
Disseminated superficial porokeratosis in a patient with chronic liver disease. (9267112)
1997
39
A report of 31 cases of porokeratosis at the National Skin Centre. (9055013)
1996
40
Simultaneous occurrence of disseminated superficial actinic porokeratosis (DSAP), linear, and punctate porokeratosis. (7896495)
1995
41
Hyperkeratotic form of porokeratosis of Mibelli. (8125699)
1993
42
Linear porokeratosis in a 74-year-old woman. (1918478)
1991
43
Squamous cell carcinoma arising from a lesion of disseminated superficial actinic porokeratosis. (1806324)
1991
44
Squamous cell carcinoma in lesions of disseminated superficial actinic porokeratosis: a report of two cases. (3740866)
1986
45
Linear porokeratosis of Mibelli and DSAP. (3708898)
1986
46
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. (2933431)
1985
47
Porokeratosis Mibelli: a patient with oral manifestations. (3868178)
1985
48
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. (2934437)
1985
49
Linear porokeratosis and other linear cutaneous eruptions of childhood. (517477)
1979
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)SNVPathogenicrs745983207GRCh38Chr 1, 154926384: 154926384
2PMVKNM_006556.3(PMVK): c.550delC (p.Leu184Terfs)deletionPathogenicrs879255607GRCh38Chr 1, 154925158: 154925158
3MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)SNVPathogenicrs104895301GRCh37Chr 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
1peroxisomeGO:00057779.9MVD, 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
2isoprenoid biosynthetic processGO:000829910.0MVD, MVK, PMVK
3cholesterol biosynthetic processGO:00066959.6FDPS, MVD, MVK, PMVK
4keratinocyte differentiationGO:00302169.3FLG, IVL, LOR, S100A7

Sources for Porokeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet