MCID: KRT012
MIFTS: 45

Keratoderma malady

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

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65Wikipedia, 33MalaCards
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Wikipedia:65 Keratoderma is a hornlike skin condition. more...

MalaCards: Keratoderma is related to palmoplantar keratoderma, epidermolytic 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, tongue and t cells, and related mouse phenotypes are pigmentation and mortality/aging.

Aliases & Classifications for Keratoderma

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20GeneTests, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

keratoderma 20 45


Related Diseases for Keratoderma

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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 237)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic30.8KRT16, KRT9, KRT1, KRT17
2diffuse palmoplantar keratoderma, bothnian type30.6KRT17, KRT9, KRT16
3palmoplantar keratosis30.6DSG1, AAGAB, KRT9
4pachyonychia congenita30.6KRT17, KRT16
5nonepidermolytic palmoplantar keratoderma30.5DSG1, GJB2, KRT1, KRT9, KRT16
6keratosis30.3DSP, GJB2, KRT1, KRT16
7ectodermal dysplasia30.3KRT17, GJB2
8epidermolytic hyperkeratosis30.3KRT1, KRT9, KRT16
9psoriasis30.1KRT17, KRT1, KRT16
10pachyonychia congenita 230.0KRT16, KRT17
11adenocarcinoma30.0KRT1, KRT17, GJB2
12epidermolysis bullosa simplex29.9KRT16, KRT9, KRT1, KRT17
13lichen planus29.8KRT16, KRT1
14skin disease29.7DSP, DSG1, GJB2, KRT17, KRT1, KRT9
15dermatitis29.7KRT16, DSG1
16esophageal cancer29.7GJB2, DSG1
17keratoderma palmoplantar deafness10.5
18focal palmoplantar keratoderma10.5
19vohwinkel syndrome10.5
20cardiomyopathy dilated with woolly hair and keratoderma10.4
21unna-thost palmoplantar keratoderma10.4
22olmsted syndrome10.4
23cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.4
24naxos disease10.3
25keratoderma palmoplantar spastic paralysis10.3
26curly hair-acral keratoderma-caries syndrome10.2
27erythrokeratodermia variabilis et progressiva10.2
28keratoderma, palmoplantar, punctate type ia10.2
29keratosis palmoplantaris striata i, ad10.2
30melanoma10.2
31tylosis with esophageal cancer10.2
32keratosis linearis with ichthyosis congenita and sclerosing keratoderma10.2
33palmoplantar keratoderma, nagashima type10.2
34autosomal dominant palmoplantar keratoderma and congenital alopecia10.2
35autosomal recessive palmoplantar keratoderma and congenital alopecia10.2
36alopecia10.2
37leukoencephalopathy palmoplantar keratoderma10.2
38meleda disease10.2
39palmoplantar keratoderma of sybert10.2
40porokeratosis plantaris palmaris et disseminata10.2
41vohwinkel syndrome with ichthyosis10.2
42hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
43palmoplantar keratoderma-sclerodactyly syndrome10.2
44erythropoietic protoporphyria10.1
45acquired hyperkeratosis10.1
46dilated cardiomyopathy10.1
47sclerotylosis10.1
48cole disease10.1
49focal palmoplantar and gingival keratoderma10.1
50hereditary palmoplantar keratoderma, gamborg-nielsen type10.1

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Keratoderma

Search NIH Clinical Center for Keratoderma

Genetic Tests for Keratoderma

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20GeneTests
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Genetic tests related to Keratoderma:

id Genetic test Affiliating Genes
1 Keratoderma20

Anatomical Context for Keratoderma

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33MalaCards
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MalaCards organs/tissues related to Keratoderma:

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

Animal Models for Keratoderma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Keratoderma:

37
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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52PubMed
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Articles related to Keratoderma:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. (22972947)
2012
2
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. (21489919)
2011
3
Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. (21540729)
2011
4
Letter: Aquagenic keratoderma: successful treatment with botulinum toxin. (20402952)
2010
5
Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles. (19755909)
2010
6
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. (20890442)
2010
7
Unilateral aquagenic keratoderma treated with botulinum toxin A. (21886737)
2010
8
Keratin K6c mutations cause focal palmoplantar keratoderma. (19609311)
2010
9
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041)
2009
10
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (18787536)
2009
11
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238)
2009
12
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. (19656459)
2009
13
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
14
"I forgot to shave my hands": A case of spiny keratoderma. (18068266)
2008
15
Symmetrical hyperkeratotic and hyperpigmented plaques associated with palmoplantar keratoderma. (19067871)
2008
16
Acquired aquagenic keratoderma. (17461826)
2007
17
Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. (17369150)
2007
18
Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)
2007
19
Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. (17511940)
2007
20
Palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy. (16487136)
2006
21
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
22
Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. (16167422)
2005
23
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. (15551259)
2005
24
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
25
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. (15149499)
2004
26
Palmoplantar keratoderma of Sybert. (14594603)
2003
27
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. (12930313)
2003
28
Striated palmoplantar keratoderma of Brunauer-Fohs-Siemens. (11737425)
2001
29
Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings. (10738633)
2000
30
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
31
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. (10844507)
2000
32
Pictorial CME. Reiter's syndrome with keratoderma blenorrhagica. (10778528)
1999
33
Symmetrical progressive erythro-keratoderma. (20921653)
1999
34
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. (9856479)
1998
35
Spiny keratoderma: a common under-reported dermatosis. (9675341)
1998
36
Mutilating keratoderma with deaf-mutism. (20948071)
1996
37
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (7528239)
1994
38
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (7516304)
1994
39
Cell turnover time of stratum corneum on soles in patients with hereditary palmoplantar keratoderma. (7904111)
1993
40
Palmoplantar keratoderma with cutaneous horns. (1534079)
1992
41
Keratoderma hereditaria mutilans. Etretinate treatment and electron microscope studies. (1445089)
1992
42
Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia: a new syndrome. (1832929)
1991
43
Hereditary epidermolytic palmo-plantar keratoderma (VAPrner type)--report of a family and review of the literature. (1794193)
1991
44
Arteriohepatic dysplasia (Alagille's syndrome) with keratoderma. (2526877)
1989
45
Hereditary palmoplantar keratoderma and dermatophytosis. (2968959)
1988
46
Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. (2935332)
1985
47
Skin pH on soles in patients with hereditary palmoplantar keratoderma and pathogenicity of dermatophytes. (3162099)
1985
48
Epidermolytic palmo-plantar keratoderma. (6241180)
1984
49
2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formation. (6207058)
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters
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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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45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Keratoderma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1isotretinoin45 1110.7KRT1, KRT16
2sodium dodecylsulfate459.3KRT17, KRT1, KRT16
3asparagine459.2KRT1, KRT17, GJB2
4proline459.1KRT16, KRT1, GJB2
5retinoid458.9GJB2, KRT17, KRT1, KRT16
6steroid458.9KRT16, KRT1, DSP
7paraffin458.8GJB2, KRT17, KRT1, KRT16
8sucrose45 24 1110.6GJB2, DSG1, DSP
9progesterone45 29 61 24 1112.4DSP, GJB2, KRT1
10serine457.8DSP, DSG1, KRT17, KRT1, KRT16
11retinoic acid45 248.4KRT16, KRT1, KRT17, GJB2, DSG1, DSP

GO Terms for genes affiliated with Keratoderma

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16Gene Ontology
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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
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  • Antibodies

Sources for Keratoderma

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet