MCID: KRT012
MIFTS: 46

Keratoderma malady

Genetic diseases (common), Skin diseases categories
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Summaries for Keratoderma

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Wikipedia:65 Keratoderma is a hornlike skin condition. more...

MalaCards based summary: Keratoderma is related to pachyonychia congenita and diffuse palmoplantar keratoderma, bothnian type. An important gene associated with Keratoderma is KRT16 (keratin 16), and among its related pathways are Apoptotic cleavage of cellular proteins and Cytoskeleton remodeling Keratin filaments. The compounds isotretinoin and sodium dodecylsulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and lung, and related mouse phenotypes are pigmentation and mortality/aging.

Aliases & Classifications for Keratoderma

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Sources:
20GeneTests, 44Novoseek
See all sources

Keratoderma, Aliases & Descriptions:

Name: Keratoderma 20 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Skin diseases


Related Diseases for Keratoderma

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

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita30.8KRT17, KRT16
2diffuse palmoplantar keratoderma, bothnian type30.7KRT17, KRT9, KRT16
3palmoplantar keratoderma, epidermolytic30.7KRT16, KRT9, KRT1, KRT17
4palmoplantar keratosis30.6DSG1, AAGAB, KRT9
5ectodermal dysplasia30.4KRT17, GJB2
6epidermolytic hyperkeratosis30.4KRT1, KRT9, KRT16
7pachyonychia congenita 230.3KRT16, KRT17
8nonepidermolytic palmoplantar keratoderma30.1DSG1, GJB2, KRT1, KRT9, KRT16
9lichen planus30.0KRT16, KRT1
10psoriasis30.0KRT17, KRT1, KRT16
11keratosis30.0DSP, GJB2, KRT1, KRT16
12dermatitis30.0KRT16, DSG1
13adenocarcinoma29.8KRT1, KRT17, GJB2
14esophageal cancer29.7GJB2, DSG1
15epidermolysis bullosa simplex29.6KRT16, KRT9, KRT1, KRT17
16skin disease28.7DSP, DSG1, GJB2, KRT17, KRT1, KRT9
17keratoderma palmoplantar deafness10.6
18focal palmoplantar keratoderma10.5
19vohwinkel syndrome10.5
20cardiomyopathy dilated with woolly hair and keratoderma10.4
21unna-thost palmoplantar keratoderma10.4
22epidermolytic acanthoma10.4KRT1
23cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.4
24fibroma10.4KRT1
25keratoderma palmoplantar spastic paralysis10.3
26naxos disease10.3
27olmsted syndrome10.3
28erythrokeratodermia variabilis et progressiva10.3
29curly hair-acral keratoderma-caries syndrome10.3
30keratoderma, palmoplantar, punctate type ia10.3
31keratosis palmoplantaris striata i, ad10.3
32hailey-hailey disease10.2DSP
33vohwinkel syndrome with ichthyosis10.2
34melanoma10.2
35tylosis with esophageal cancer10.2
36palmoplantar keratoderma, nagashima type10.2
37autosomal dominant palmoplantar keratoderma and congenital alopecia10.2
38autosomal recessive palmoplantar keratoderma and congenital alopecia10.2
39steatocystoma multiplex10.2KRT17, KRT16
40alopecia10.2
41leukoencephalopathy palmoplantar keratoderma10.2
42meleda disease10.2
43palmoplantar keratoderma of sybert10.2
44porokeratosis plantaris palmaris et disseminata10.2
45keratosis linearis with ichthyosis congenita and sclerosing keratoderma10.2
46hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
47cystic fibrosis10.1
48dilated cardiomyopathy10.1
49erythropoietic protoporphyria10.1
50acquired hyperkeratosis10.1

Graphical network of the top 20 diseases related to Keratoderma:



Diseases related to keratoderma

Symptoms for Keratoderma

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Drugs & Therapeutics for Keratoderma

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Drug clinical trials:

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Genetic Tests for Keratoderma

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Genetic tests related to Keratoderma:

id Genetic test Affiliating Genes
1 Keratoderma20

Anatomical Context for Keratoderma

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MalaCards organs/tissues related to Keratoderma:

32
Skin, Colon, Lung, Breast, T cells, Tongue, Bone marrow, Bone, Heart, Kidney, Liver, Thyroid, Endothelial

Animal Models for Keratoderma or affiliated genes

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MGI Mouse Phenotypes related to Keratoderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT9, KRT1, KRT17
2MP:00107687.8KRT16, KRT1, KRT17, GJB2, DSP
3MP:00053847.8DSP, GJB2, KRT17, KRT9, KRT16
4MP:00053787.7DSP, GJB2, KRT1, KRT9, KRT16
5MP:00107717.5KRT16, DSP, GJB2, KRT17, KRT1, KRT9

Publications for Keratoderma

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Articles related to Keratoderma:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
Nevoid hypomelanosis associated with unilateral palmoplantar keratoderma: a result of genetic mosaicism. (25039243)
2014
2
Music box spine keratoderma without any systemic manifestation. (25165662)
2014
3
Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy. (25227139)
2014
4
Acute colonic pseudo-obstruction (Ogilvie's syndrome) with myxedema coma and palmoplantar keratoderma. (24557975)
2013
5
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. (22972947)
2012
6
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. (21489919)
2011
7
Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. (21540729)
2011
8
Letter: Aquagenic keratoderma: successful treatment with botulinum toxin. (20402952)
2010
9
Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles. (19755909)
2010
10
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. (20890442)
2010
11
Unilateral aquagenic keratoderma treated with botulinum toxin A. (21886737)
2010
12
Keratin K6c mutations cause focal palmoplantar keratoderma. (19609311)
2010
13
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041)
2009
14
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (18787536)
2009
15
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238)
2009
16
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. (19656459)
2009
17
Transgrediens et progrediens palmoplantar keratoderma (Greither disease) and confluent and reticulated papillomatosis of Gougerot and Carteaud in the same patient: a coincidental finding? (18577063)
2008
18
"I forgot to shave my hands": A case of spiny keratoderma. (18068266)
2008
19
Symmetrical hyperkeratotic and hyperpigmented plaques associated with palmoplantar keratoderma. (19067871)
2008
20
Acquired aquagenic keratoderma. (17461826)
2007
21
Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. (17369150)
2007
22
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
23
Palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy. (16487136)
2006
24
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
25
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. (16167422)
2005
26
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. (15551259)
2005
27
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. (15968592)
2005
28
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. (15149499)
2004
29
Palmoplantar keratoderma of Sybert. (14594603)
2003
30
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. (12930313)
2003
31
Striated palmoplantar keratoderma of Brunauer-Fohs-Siemens. (11737425)
2001
32
Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings. (10738633)
2000
33
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
34
Pictorial CME. Reiter's syndrome with keratoderma blenorrhagica. (10778528)
1999
35
Symmetrical progressive erythro-keratoderma. (20921653)
1999
36
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. (9856479)
1998
37
Spiny keratoderma: a common under-reported dermatosis. (9675341)
1998
38
Mutilating keratoderma with deaf-mutism. (20948071)
1996
39
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (7528239)
1994
40
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (7516304)
1994
41
Cell turnover time of stratum corneum on soles in patients with hereditary palmoplantar keratoderma. (7904111)
1993
42
Palmoplantar keratoderma with cutaneous horns. (1534079)
1992
43
Keratoderma hereditaria mutilans. Etretinate treatment and electron microscope studies. (1445089)
1992
44
Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia: a new syndrome. (1832929)
1991
45
Arteriohepatic dysplasia (Alagille's syndrome) with keratoderma. (2526877)
1989
46
Hereditary palmoplantar keratoderma and dermatophytosis. (2968959)
1988
47
Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. (2935332)
1985
48
Skin pH on soles in patients with hereditary palmoplantar keratoderma and pathogenicity of dermatophytes. (3162099)
1985
49
Epidermolytic palmo-plantar keratoderma. (6241180)
1984
50
Hereditary palmo-plantar keratoderma: incidence of dermatophyte infections and the results of topical treatment with retinoic acid. (6172942)
1981

Variations for Keratoderma

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Expression for genes affiliated with Keratoderma

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Expression patterns in normal tissues for genes affiliated with Keratoderma

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Pathways for genes affiliated with Keratoderma

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Pathways related to Keratoderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0DSG1, DSP
28.3KRT16, KRT1, KRT17, DSP

Compounds for genes affiliated with Keratoderma

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 61Tocris Bioscience
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Compounds related to Keratoderma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1isotretinoin44 1110.7KRT1, KRT16
2sodium dodecylsulfate449.3KRT17, KRT1, KRT16
3asparagine449.2KRT1, KRT17, GJB2
4proline449.1KRT16, KRT1, GJB2
5retinoid448.9GJB2, KRT17, KRT1, KRT16
6steroid448.9KRT16, KRT1, DSP
7paraffin448.8GJB2, KRT17, KRT1, KRT16
8sucrose44 24 1110.6GJB2, DSG1, DSP
9progesterone44 28 61 24 1112.4DSP, GJB2, KRT1
10serine447.8DSP, DSG1, KRT17, KRT1, KRT16
11retinoic acid44 248.4KRT16, KRT1, KRT17, GJB2, DSG1, DSP

GO Terms for genes affiliated with Keratoderma

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Cellular components related to Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:0163289.3GJB2, DSG1
2desmosomeGO:0300578.7DSG1, DSP
3intermediate filamentGO:0058828.4KRT16, KRT9, KRT17, DSP
4extracellular vesicular exosomeGO:0700627.9DSP, KRT17, KRT1, KRT9, KRT16

Biological processes related to Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell adhesionGO:0163379.0DSG1, DSP
2cellular component disassembly involved in execution phase of apoptosisGO:0069218.7DSG1, DSP
3intermediate filament organizationGO:0451098.7DSP, KRT17, KRT9
4epidermis developmentGO:0085448.4KRT16, KRT9, KRT17, DSP

Molecular functions related to Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.4KRT16, KRT9, KRT17, DSP

Products for genes affiliated with Keratoderma

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  • Antibodies
  • Proteins
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Sources for Keratoderma

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet