MCID: PLM029
MIFTS: 38

Palmoplantar Keratosis malady

Summaries for Palmoplantar Keratosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Palmoplantar keratoderma (ppk) is a group of conditions characterized by thickening of the palms and soles of the feet. ppk can also be an associated feature of different syndromes. in rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. ppk can either be inherited or acquired. acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. the hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). they can be inherited in an autosomal dominant or autosomal recessive patterns. last updated: 4/29/2011

MalaCards: Palmoplantar Keratosis, also known as palmoplantar keratoderma, is related to keratoderma and nonepidermolytic palmoplantar keratoderma. An important gene associated with Palmoplantar Keratosis is CTSC (cathepsin C), and among its related pathways is Cytoskeleton remodeling Keratin filaments. The compounds tazarotene and gap 27 have been mentioned in the context of this disorder. Related mouse phenotype integument.

Wikipedia:64 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

Aliases & Classifications for Palmoplantar Keratosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt
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Aliases & Descriptions:

palmoplantar keratosis 8 10 61
palmoplantar keratoderma 8 43
keratoderma, palmoplantar, diffuse 61
keratosis palmaris et plantaris 8
keratoderma, palmoplantar 43
keratoderma palmoplantar 45


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Disease Ontology8 DOID:3390
MeSH35 D007645
SNOMED-CT57 28596004, 205584004
NCIt40 C34748

Related Diseases for Palmoplantar Keratosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Palmoplantar Keratosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma32.0LOR, GJB2, KRT1, KRT9
2nonepidermolytic palmoplantar keratoderma31.0LOR, CTSC, GJB2, KRT1, KRT9
3pachyonychia congenita30.7KRT6A, KRT6B
4epidermolytic hyperkeratosis30.6LOR, KRT1, KRT2, KRT9
5vohwinkel syndrome30.5GJB2, LOR
6ectodermal dysplasia30.3GJB2
7sensorineural hearing loss30.3GJB6, GJB2
8palmoplantar keratoderma, epidermolytic30.1KRT9, KRT1
9congenital ichthyosiform erythroderma30.1LOR, NIPAL4, KRT1
10bart-pumphrey syndrome30.1GJB6, GJB2
11hidrotic ectodermal dysplasia 230.1GJB2, GJB6
12clouston syndrome30.1GJB2, GJB6
13keratoderma palmoplantar deafness10.9
14focal palmoplantar keratoderma10.8
15unna-thost palmoplantar keratoderma10.7
16keratosis palmaris et plantaris - clinodactyly10.7
17diffuse palmoplantar keratoderma, bothnian type10.7
18cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.6
19naxos disease10.5
20olmsted syndrome10.5
21hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.5
22leukoencephalopathy palmoplantar keratoderma10.4
23autosomal dominant palmoplantar keratoderma and congenital alopecia10.4
24autosomal recessive palmoplantar keratoderma and congenital alopecia10.4
25hereditary palmoplantar keratoderma, gamborg-nielsen type10.4
26epidermodysplasia verruciformis10.4
27tylosis with esophageal cancer10.4
28n syndrome10.4
29alopecia10.4
30keratoderma palmoplantar spastic paralysis10.4
31cardiomyopathy dilated with woolly hair and keratoderma10.4
32erythrokeratodermia variabilis et progressiva10.4
33palmoplantar keratoderma, bothnia type10.4
34keratoderma, palmoplantar, punctate type ia10.4
35palmoplantar keratoderma-sclerodactyly syndrome10.4
36pityriasis rubra pilaris10.3
37porokeratosis plantaris palmaris et disseminata10.3
38meleda disease10.3
39palmoplantar keratoderma, mutilating, with periorificial keratotic plaques10.3
40cole disease10.3
41palmoplantar keratoderma, nonepidermolytic, focal10.3
42keratosis palmoplantaris striata i, ad10.3
43cystic fibrosis10.2
44keratosis follicularis10.2
45ainhum10.2
46papillon-lefevre disease10.2
47myxedema10.2
48squamous cell carcinoma10.2
49acrokeratoelastoidosis of costa10.2
50keratosis palmoplantaris papulosa10.2

Graphical network of the top 20 diseases related to Palmoplantar Keratosis:



Diseases related to palmoplantar keratosis

Clinical Features for Palmoplantar Keratosis

Drugs & Therapeutics for Palmoplantar Keratosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Palmoplantar Keratosis

Anatomical Context for Palmoplantar Keratosis

Animal Models for Palmoplantar Keratosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Palmoplantar Keratosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8KRT6B, KRT6A, KRT2, KRT1, GJB2, DSC1

Publications for Palmoplantar Keratosis

Sources:
51PubMed
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Articles related to Palmoplantar Keratosis:

(show all 26)
idTitleAuthorsYear
1
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (24207119)
2013
2
Possible nagashima-type palmoplantar keratosis in two siblings. (23626539)
2013
3
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
4
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
2012
5
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. (20959277)
2010
6
Hereditary keratosis palmoplantaris varians of Wachters (keratosis palmoplantaris striata et areata). (20372773)
2010
7
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
8
Keratosis palmoplantaris associated with early-onset periodontitis: a case report. (20931924)
2010
9
'Nagashima-type' keratosis palmoplantaris in two siblings. (19470072)
2009
10
Possible involvement of T lymphocytes in the pathogenesis of Nagashima-type keratosis palmoplantaris. (19438557)
2009
11
Successful treatment of palmoplantar arsenical keratosis with a combination of keratolytics and low-dose acitretin. (18039342)
2008
12
"Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category. (18347294)
2008
13
Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. (17511940)
2007
14
A case of keratosis punctata palmoplantaris successfully treated with acitretin. (17567324)
2007
15
Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. (15761417)
2005
16
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
17
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
18
Epidermolytic hyperkeratosis of the nails in keratosis palmoplantaris nummularis. (8615066)
1995
19
Abnormalities of keratinocyte maturation and differentiation in keratosis palmoplantaris striata. Immunohistochemical and ultrastructural study before and during etretinate therapy. (1693821)
1990
20
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
21
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
22
Keratosis palmoplantaris nummularis ("hereditary painful callosities"). Clinical and histopathologic aspects. (6224824)
1983
23
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
24
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
25
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
26
Myasthenia with systemic lupus and palmoplantar keratosis. (5124413)
1971

Genetic Variations for Palmoplantar Keratosis

Expression for genes affiliated with Palmoplantar Keratosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Palmoplantar Keratosis

Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for genes affiliated with Palmoplantar Keratosis

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12EMD Millipore
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Pathways related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7KRT6A, KRT2, KRT1, KRT6C

Compounds for genes affiliated with Palmoplantar Keratosis

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tazarotene45 1111.2KRT1, KRT2
2gap 276010.0GJB6, GJB2
3carbenoxolone disodium6010.0GJB6, GJB2
4octanol29 2411.0GJB2, GJB6
5scrambled 10panx609.9GJB6, GJB2
610panx609.7GJB6, GJB2
7proline459.6KRT6A, KRT1, GJB2, CTSC, LOR

GO Terms for genes affiliated with Palmoplantar Keratosis

Sources:
16Gene Ontology
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Cellular components related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:03005710.0DSC1, DSC2
2connexon complexGO:0059229.7GJB6, GJB2
3keratin filamentGO:0450959.5KRT6C, KRT1, KRT2, KRT6A, KRT6B
4intermediate filamentGO:0058829.3KRT9, KRT6C, KRT2, KRT24, KRT6A

Biological processes related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ectoderm developmentGO:00739810.1KRT6B, KRT6A

Molecular functions related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.6KRT24, KRT1, KRT6C, LOR
2structural constituent of cytoskeletonGO:0052009.3KRT9, KRT6B, KRT6A, KRT2, LOR

Products for genes affiliated with Palmoplantar Keratosis

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Sources for Palmoplantar Keratosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet