MCID: PLM029
MIFTS: 39

Palmoplantar Keratosis malady

Summaries for Palmoplantar Keratosis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 keratosis 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. Affiliated tissues include skin, and related mouse phenotype integument.

Wikipedia:63 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

Aliases & Classifications for Palmoplantar Keratosis

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8Disease Ontology, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

palmoplantar keratosis 8 10 60
palmoplantar keratoderma 8 42
keratoderma, palmoplantar, diffuse 60
keratosis palmaris et plantaris 8
keratoderma, palmoplantar 42
keratoderma palmoplantar 44


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Disease Ontology8 DOID:3390
MeSH34 D007645
SNOMED-CT56 28596004, 205584004
NCIt39 C34748

Related Diseases for Palmoplantar Keratosis

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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 145)
idRelated DiseaseScoreTop Affiliating Genes
1keratosis30.9KRT6A, KRT6B, KRT1, GJB2, LOR
2nonepidermolytic palmoplantar keratoderma30.9LOR, CTSC, KRT9, KRT1, GJB2
3pachyonychia congenita30.7KRT6A, KRT6B
4epidermolytic hyperkeratosis30.6KRT9, LOR, KRT1, KRT2
5vohwinkel syndrome30.4GJB2, LOR
6sensorineural hearing loss30.3GJB2, GJB6
7skin disease30.3LOR, KRT9, KRT6A, KRT1, GJB2, SLURP1
8palmoplantar keratoderma, epidermolytic30.1KRT9, KRT1
9congenital ichthyosiform erythroderma30.1KRT1, NIPAL4, LOR
10bart-pumphrey syndrome30.1GJB6, GJB2
11hidrotic ectodermal dysplasia 230.1GJB6, GJB2
12clouston syndrome30.1GJB2, GJB6
13keratoderma palmoplantar deafness10.7
14unna-thost palmoplantar keratoderma10.6
15keratosis palmaris et plantaris - clinodactyly10.6
16diffuse palmoplantar keratoderma, bothnian type10.6
17cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.6
18focal palmoplantar keratoderma10.6
19naxos disease10.4
20keratosis palmoplantaris striata i, ad10.4
21autosomal dominant palmoplantar keratoderma and congenital alopecia10.4
22autosomal recessive palmoplantar keratoderma and congenital alopecia10.4
23hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.4
24epidermodysplasia verruciformis10.4
25melanoma10.4
26tylosis with esophageal cancer10.4
27alopecia10.4
28keratoderma palmoplantar spastic paralysis10.4
29cardiomyopathy dilated with woolly hair and keratoderma10.4
30erythrokeratodermia variabilis et progressiva10.4
31leukoencephalopathy palmoplantar keratoderma10.4
32olmsted syndrome10.4
33keratoderma, palmoplantar, punctate type ia10.4
34pityriasis rubra pilaris10.3
35dilated cardiomyopathy10.3
36hair disease10.3
37porokeratosis plantaris palmaris et disseminata10.3
38meleda disease10.3
39palmoplantar keratoderma, mutilating, with periorificial keratotic plaques10.3
40palmoplantar keratoderma-sclerodactyly syndrome10.3
41hereditary palmoplantar keratoderma, gamborg-nielsen type10.3
42cystic fibrosis10.2
43keratosis follicularis10.2
44ainhum10.2
45papillon-lefevre disease10.2
46myxedema10.2
47breast cancer10.2
48dermatophytosis10.2
49hypotrichosis10.2
50myeloma10.2

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



Diseases related to palmoplantar keratosis

Clinical Features for Palmoplantar Keratosis

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Drugs & Therapeutics for Palmoplantar Keratosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Palmoplantar Keratosis

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Anatomical Context for Palmoplantar Keratosis

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32MalaCards
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MalaCards organs/tissues related to Palmoplantar Keratosis:

32
Skin

Animal Models for Palmoplantar Keratosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Palmoplantar Keratosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8KRT6B, KRT6A, KRT2, KRT1, GJB2, DSC1

Publications for Palmoplantar Keratosis

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50PubMed
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Articles related to Palmoplantar Keratosis:

(show all 18)
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
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
7
Successful treatment of palmoplantar arsenical keratosis with a combination of keratolytics and low-dose acitretin. (18039342)
2008
8
"Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category. (18347294)
2008
9
Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. (17511940)
2007
10
Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. (15761417)
2005
11
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
12
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
13
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
14
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
15
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
16
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
17
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
18
Myasthenia with systemic lupus and palmoplantar keratosis. (5124413)
1971

Genetic Variations for Palmoplantar Keratosis

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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

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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

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.2KRT1, KRT2
2gap 275910.0GJB6, GJB2
3carbenoxolone disodium5910.0GJB6, GJB2
4octanol28 2411.0GJB2, GJB6
5scrambled 10panx599.9GJB6, GJB2
610panx599.7GJB6, GJB2
7proline449.6KRT6A, KRT1, GJB2, CTSC, LOR

GO Terms for genes affiliated with Palmoplantar Keratosis

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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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  • Antibodies
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Sources for Palmoplantar Keratosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet