MCID: KRT012
MIFTS: 44

Keratoderma malady

Summaries for Keratoderma

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64Wikipedia, 33MalaCards
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Wikipedia:64 Keratoderma is a hornlike skin condition. more...

MalaCards: Keratoderma is related to palmoplantar keratoderma, epidermolytic and vohwinkel syndrome. An important gene associated with Keratoderma is KRT16 (keratin 16), and among its related pathways are Apoptotic cleavage of cell adhesion proteins and Cytoskeleton remodeling Keratin filaments. The compounds collodion and epsilon-(gamma-glutamyl)lysine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, heart and colon, and related mouse phenotype integument.

Aliases & Classifications for Keratoderma

Sources:
20GeneTests, 45Novoseek
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Aliases & Descriptions:

keratoderma 20 45


Related Diseases for Keratoderma

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

(show top 50)    (show all 243)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic31.2KRT16, KRT1, KRT9, KRT17, EVPL
2vohwinkel syndrome30.7LOR, GJB2
3nonepidermolytic palmoplantar keratoderma30.5CYGB, KRTAP11-1, EVPL
4diffuse palmoplantar keratoderma, bothnian type30.5KRT16, KRT9, KRT17
5pachyonychia congenita30.3KRT16, KRT17
6ectodermal dysplasia30.2KRT17, GJB2
7epidermolytic hyperkeratosis30.2KRT1, KRT10
8vohwinkel syndrome with ichthyosis30.1LOR
9congenital ichthyosiform erythroderma30.0KRT10, TGM1
10sensorineural hearing loss29.9GJB3, GJB2
11epidermolysis bullosa simplex29.9KRT16, KRT1, KRT10, KRT9, KRT17
12squamous cell carcinoma29.9DSP, DSG1, GJB2, KRT16, KRT1, KRT10
13lichen planus29.7KRT10, KRT1, KRT16
14clouston syndrome29.7GJB3, GJB2
15keratoderma palmoplantar deafness10.6
16focal palmoplantar keratoderma10.5
17unna-thost palmoplantar keratoderma10.4
18cardiomyopathy dilated with woolly hair and keratoderma10.4
19olmsted syndrome10.4
20cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.3
21naxos disease10.3
22keratoderma palmoplantar spastic paralysis10.3
23curly hair-acral keratoderma-caries syndrome10.2
24erythrokeratodermia variabilis et progressiva10.2
25keratoderma, palmoplantar, punctate type ia10.2
26palmoplantar keratoderma, nagashima type10.2
27tylosis with esophageal cancer10.2
28leukoencephalopathy palmoplantar keratoderma10.2
29autosomal dominant palmoplantar keratoderma and congenital alopecia10.2
30autosomal recessive palmoplantar keratoderma and congenital alopecia10.2
31hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
32palmoplantar keratoderma-sclerodactyly syndrome10.2
33hereditary palmoplantar keratoderma, gamborg-nielsen type10.2
34n syndrome10.1
35alopecia10.1
36porokeratosis plantaris palmaris et disseminata10.1
37meleda disease10.1
38keratosis linearis with ichthyosis congenita and sclerosing keratoderma10.1
39keratosis palmoplantaris striata i, ad10.1
40acquired hyperkeratosis10.1
41pityriasis rubra pilaris10.1
42erythropoietic protoporphyria10.1
43palmoplantar keratoderma of sybert10.1
44cole disease10.1
45palmoplantar keratoderma, bothnia type10.1
46focal palmoplantar and gingival keratoderma10.1
47cystic fibrosis10.0
48keratosis follicularis10.0
49ainhum10.0
50papillon-lefevre disease10.0

Graphical network of the top 20 diseases related to Keratoderma:



Diseases related to keratoderma

Clinical Features for Keratoderma

Drugs & Therapeutics for Keratoderma

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

Search CenterWatch for Keratoderma

Drug clinical trials:

Search ClinicalTrials for Keratoderma

Search NIH Clinical Center for Keratoderma

Search CenterWatch for Keratoderma

Genetic Tests for Keratoderma

Sources:
20GeneTests
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Genetic tests related to Keratoderma:

id Genetic test Affiliating Genes
1 Keratoderma20

Anatomical Context for Keratoderma

Sources:
33MalaCards
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MalaCards organs/tissues related to Keratoderma:

33
Bone marrow, Heart, Colon, Kidney, Liver, Lung, Thyroid, Breast, Skin, T cells, B cells, Endothelial, Tongue

Animal Models for Keratoderma or affiliated genes

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.8TGM1, DSP, GJB3, GJB2, KRT16, KRT1

Publications for Keratoderma

Sources:
51PubMed
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Articles related to Keratoderma:

(show top 50)    (show all 513)
idTitleAuthorsYear
1
Palmoplantar keratoderma in a 7-year-old boy. (24283442)
2013
2
Collodion baby and loricrin keratoderma: a case report and mutation analysis. (22831754)
2013
3
Clinical, demographic and histopathological features of symmetric acral keratoderma. (24341804)
2013
4
Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. (23851542)
2013
5
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. (22262370)
2012
6
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. (20890442)
2010
7
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. (20337824)
2010
8
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. (20082890)
2010
9
Severe palmoplantar keratoderma. (20566934)
2010
10
Striate palmoplantar keratoderma. (20883380)
2010
11
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041)
2009
12
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238)
2009
13
Melanoma in skin affected with keratoderma palmoplantaris hereditaria (Mal de Meleda): Treatment with excision and grafting. (19539863)
2009
14
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. (19298273)
2009
15
A case of syphilitic keratoderma concurrent with syphilitic uveitis. (20523832)
2009
16
Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma]. (18683133)
2008
17
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. (18477167)
2008
18
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (17993581)
2008
19
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
20
Botulinum toxin is helpful in aquagenic palmoplantar keratoderma. (15727674)
2005
21
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. (15605275)
2005
22
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. (15897387)
2005
23
Treatment of palmoplantar keratoderma with continuous infusion 5-fluorouracil. (15186044)
2004
24
Punctate palmoplantar keratoderma with pigmentary lesions on the dorsa of feet and ankles: successful treatment with a combination of low-dose oral etretinate and topical calcipotriol. (15235186)
2004
25
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. (14684683)
2003
26
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high- performance liquid chromatography. (12072061)
2002
27
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. (12207605)
2002
28
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. (11286630)
2001
29
Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma. (11348480)
2001
30
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (10757647)
2000
31
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (10888284)
2000
32
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (11063735)
2000
33
Symmetrical progressive erythro-keratoderma. (20921653)
1999
34
Palmoplantar keratoderma--Mal de Meleda syndrome. (9427080)
1997
35
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. (9204965)
1997
36
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. (7844676)
1995
37
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (7528239)
1994
38
Classification of autosomal dominant palmoplantar keratoderma: past-present-future. (1446079)
1992
39
Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. (2521286)
1989
40
Keratoderma in association with myxedema. (2531645)
1989
41
Punctate porokeratotic keratoderma. (2802653)
1989
42
Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratoderma. (2975234)
1988
43
Hereditary epidermolytic palmoplantar keratoderma (VAPrner type). Report of a familial case and review of the literature. (2958520)
1987
44
Mutilating palmo-plantar keratoderma. (2945794)
1986
45
Epidermolytic palmo-plantar keratoderma. (2936690)
1986
46
Mutilating palmoplantar keratoderma successfully treated with etretinate. (6084939)
1984
47
Immunological aspects of dermatophyte infections in hereditary palmo-plantar keratoderma. (6209886)
1984
48
Keratoderma and spastic paralysis. (6227331)
1983
49
Successful treatment of keratoderma hereditaria mutilans with an aromatic retinoid. (6452098)
1981
50
Keratoderma hereditaria mutilans of Vohwinkel (case reports). (156694)
1979

Genetic Variations for Keratoderma

Expression for genes affiliated with Keratoderma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keratoderma

Search GEO for disease gene expression data for Keratoderma.

Pathways for genes affiliated with Keratoderma

Sources:
54Reactome, 12EMD Millipore
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Pathways related to Keratoderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4DSG1, DSP
210.1EVPL, KRT17, KRT1, KRT16, KRT6C, DSP

Compounds for genes affiliated with Keratoderma

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1collodion4510.6TGM1, LOR
2epsilon-(gamma-glutamyl)lysine4510.6TGM1, LOR
3isotretinoin45 1111.6KRT16, KRT1, KRT10
4calcipotriol45 60 29 1113.6KRT16, KRT10, TGM1
5dithranol4510.6KRT10, KRT16
6sodium dodecylsulfate4510.5TGM1, KRT17, KRT1, KRT16
7hematoxylin4510.5KRT10, KRT1, LOR
8tazarotene45 1111.5KRT10, KRT1
9asparagine4510.5GJB2, KRT1, KRT17
10paraffin4510.5GJB2, KRT16, KRT1, KRT10, KRT17
11histidine4510.4LOR, CYGB, KRT10, KRT9
12retinoid4510.4GJB2, KRT16, KRT1, KRT10, KRT17, TGM1
13proline4510.4LOR, GJB3, GJB2, KRT16, KRT1, KRT10
14gap 276010.4GJB3, GJB2
151,25 dihydroxy vitamin d34510.4KRT16, KRT10, TGM1
16progesterone45 60 29 11 2414.4DSP, GJB2, KRT1, KRT10, TGM1
17steroid4510.4LOR, DSP, SLURP1, KRT16, KRT1, KRT10
18carbenoxolone disodium6010.3GJB3, GJB2
19octanol29 2411.3GJB2, GJB3
20retinoic acid45 2411.3TGM1, LOR, DSP, DSG1, GJB2, KRT16
21scrambled 10panx6010.2GJB3, GJB2
22serine4510.2KRT17, KRT10, KRT1, KRT16, DSG1, DSP
2310panx6010.0GJB3, GJB2

GO Terms for genes affiliated with Keratoderma

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

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00592210.3GJB2, GJB3
2cornified envelopeGO:00153310.2LOR, DSP, EVPL, TGM1
3intermediate filamentGO:00588210.2KRT17, KRT9, KRT10, KRT16, KRT6C, DSP
4keratin filamentGO:04509510.1KRT6C, KRT1, KRT10, KRTAP11-1
5desmosomeGO:03005710.0EVPL, DSG1, DSP

Biological processes related to Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:04510910.3KRT17, KRT9, DSP
2peptide cross-linkingGO:01814910.2EVPL, DSP, LOR, TGM1
3keratinocyte differentiationGO:03021610.2EVPL, TGM1, KRT10, DSP, LOR
4epidermis developmentGO:00854410.1EVPL, DSP, KRT16, KRT9, KRT17
5keratinizationGO:0314249.9LOR, KRT17, EVPL, TGM1

Molecular functions related to Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00524310.3GJB2, GJB3
2structural constituent of cytoskeletonGO:00520010.1LOR, DSP, KRT16, KRT9, KRT17
3structural molecule activityGO:00519810.1EVPL, KRTAP11-1, KRT1, KRT6C, DSP, LOR
4protein binding, bridgingGO:03067410.0EVPL, DSP, LOR

Products for genes affiliated with Keratoderma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keratoderma

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