Keratoderma disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Keratoderma

Sources:
⁶⁴Wikipedia, ³²MalaCards
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Wikipedia:⁶⁴ 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

Sources:
²¹GeneTests, ⁴⁴Novoseek
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Keratoderma, Aliases & Descriptions:

Name: Keratoderma ²¹ ⁴⁴

Classifications:

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

Related Diseases for Keratoderma

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
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Diseases related to Keratoderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50) (show all 241)

id	Related Disease	Score	Top Affiliating Genes
1	pachyonychia congenita	30.8	KRT17, KRT16
2	diffuse palmoplantar keratoderma, bothnian type	30.7	KRT17, KRT9, KRT16
3	palmoplantar keratoderma, epidermolytic	30.7	KRT16, KRT9, KRT1, KRT17
4	palmoplantar keratosis	30.6	DSG1, AAGAB, KRT9
5	ectodermal dysplasia	30.4	KRT17, GJB2
6	epidermolytic hyperkeratosis	30.4	KRT1, KRT9, KRT16
7	pachyonychia congenita 2	30.3	KRT16, KRT17
8	nonepidermolytic palmoplantar keratoderma	30.1	DSG1, GJB2, KRT1, KRT9, KRT16
9	lichen planus	30.0	KRT16, KRT1
10	psoriasis	30.0	KRT17, KRT1, KRT16
11	keratosis	30.0	DSP, GJB2, KRT1, KRT16
12	dermatitis	30.0	KRT16, DSG1
13	adenocarcinoma	29.8	KRT1, KRT17, GJB2
14	esophageal cancer	29.7	GJB2, DSG1
15	epidermolysis bullosa simplex	29.6	KRT16, KRT9, KRT1, KRT17
16	skin disease	28.7	DSP, DSG1, GJB2, KRT17, KRT1, KRT9
17	keratoderma palmoplantar deafness	10.6
18	focal palmoplantar keratoderma	10.5
19	vohwinkel syndrome	10.5
20	cardiomyopathy dilated with woolly hair and keratoderma	10.4
21	unna-thost palmoplantar keratoderma	10.4
22	epidermolytic acanthoma	10.4	KRT1
23	cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	10.4
24	fibroma	10.4	KRT1
25	keratoderma palmoplantar spastic paralysis	10.3
26	naxos disease	10.3
27	olmsted syndrome	10.3
28	erythrokeratodermia variabilis et progressiva	10.3
29	curly hair-acral keratoderma-caries syndrome	10.3
30	keratoderma, palmoplantar, punctate type ia	10.3
31	keratosis palmoplantaris striata i, ad	10.3
32	hailey-hailey disease	10.2	DSP
33	vohwinkel syndrome with ichthyosis	10.2
34	melanoma	10.2
35	tylosis with esophageal cancer	10.2
36	palmoplantar keratoderma, nagashima type	10.2
37	autosomal dominant palmoplantar keratoderma and congenital alopecia	10.2
38	autosomal recessive palmoplantar keratoderma and congenital alopecia	10.2
39	steatocystoma multiplex	10.2	KRT17, KRT16
40	alopecia	10.2
41	leukoencephalopathy palmoplantar keratoderma	10.2
42	meleda disease	10.2
43	palmoplantar keratoderma of sybert	10.2
44	porokeratosis plantaris palmaris et disseminata	10.2
45	keratosis linearis with ichthyosis congenita and sclerosing keratoderma	10.2
46	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	10.2
47	cystic fibrosis	10.1
48	dilated cardiomyopathy	10.1
49	erythropoietic protoporphyria	10.1
50	acquired hyperkeratosis	10.1

Graphical network of the top 20 diseases related to Keratoderma:

Symptoms for Keratoderma

Drugs & Therapeutics for Keratoderma

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Keratoderma

Search NIH Clinical Center for Keratoderma

Genetic Tests for Keratoderma

Sources:
²¹GeneTests
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Genetic tests related to Keratoderma:

id	Genetic test	Affiliating Genes
1	Keratoderma²¹

Anatomical Context for Keratoderma

Sources:
³²MalaCards
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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

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Keratoderma:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.1	KRT17, KRT9, KRT1
2	mortality/aging	MP:0010768	7.8	DSP, GJB2, KRT17, KRT1, KRT16
3	cellular phenotype	MP:0005384	7.8	KRT9, GJB2, DSP, KRT16, KRT17
4	growth/size/body phenotype	MP:0005378	7.7	DSP, GJB2, KRT1, KRT9, KRT16
5	integument phenotype	MP:0010771	7.5	KRT16, KRT9, KRT1, DSP, GJB2, KRT17

Publications for Keratoderma

Sources:
⁵¹PubMed
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Articles related to Keratoderma:

(show top 50) (show all 532)

id	Title	Authors	Year
1	Nevoid hypomelanosis associated with unilateral palmoplantar keratoderma: a result of genetic mosaicism. (25039243)	Koh H.Y.... Giam Y.C.	2014
2	Music box spine keratoderma without any systemic manifestation. (25165662)	Saha A.... Chaterjee G.	2014
3	Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy. (25227139)	Pigors M.... Has C.	2014
4	Acute colonic pseudo-obstruction (Ogilvie's syndrome) with myxedema coma and palmoplantar keratoderma. (24557975)	SargA+n G.... Bolaman Z.	2013
5	Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. (22972947)	Guo B.R.... Zhang X.J.	2012
6	Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. (21489919)	Zeng Y.P.... Zuo Y.G.	2011
7	Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature. (21540729)	O'connor E.A.... Dzwierzynski W.W.	2011
8	Letter: Aquagenic keratoderma: successful treatment with botulinum toxin. (20402952)	Bagazgoitia L.... JaAcn P.	2010
9	Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles. (19755909)	Walsh S.N.... Bell R.C.	2010
10	Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. (20890442)	Lee J.Y.... Kim Y.C.	2010
11	Unilateral aquagenic keratoderma treated with botulinum toxin A. (21886737)	Houle M.C.... Benohanian A.	2010
12	Keratin K6c mutations cause focal palmoplantar keratoderma. (19609311)	Wilson N.J.... Smith F.J.	2010
13	Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. (19106041)	Codispoti A.... Terrinoni A.	2009
14	Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (18787536)	Holme S.A.... Badminton M.N.	2009
15	Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. (17362238)	Li M.... Dai X.Y.	2009
16	Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. (19656459)	Schimmel R.J.... Frank J.	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)	Gregoriou S.... Kontochristopoulos G.	2008
18	"I forgot to shave my hands": A case of spiny keratoderma. (18068266)	Torres G.... Gilliam A.C.	2008
19	Symmetrical hyperkeratotic and hyperpigmented plaques associated with palmoplantar keratoderma. (19067871)	Sandoval-Tress C.... DA!valos N.O.	2008
20	Acquired aquagenic keratoderma. (17461826)	Bardazzi F.... Giacomini F.	2007
21	Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. (17369150)	Yin X.Z.... Hu Z.M.	2007
22	Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation. (17550568)	Sandhu K.... Kanwar A.J.	2007
23	Palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy. (16487136)	Gregoriou S.... Rigopoulos D.	2006
24	Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)	Gong X.Q.... Laird D.W.	2006
25	Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. (16167422)	Al-Mutairi N.... Nour-Eldin O.	2005
26	A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. (15551259)	Van Steensel M.A.... Van Geel M.	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)	Sprecher E.... Mandel H.	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)	Wan H.... Eady R.A.	2004
29	Palmoplantar keratoderma of Sybert. (14594603)	Leonard A.L.... Freedberg I.M.	2003
30	A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. (12930313)	Kljuic A.... Zlotogorski A.	2003
31	Striated palmoplantar keratoderma of Brunauer-Fohs-Siemens. (11737425)	Kotcher L.B.... Kimyai-Asadi A.	2001
32	Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings. (10738633)	Grilli R.... Requena L.	2000
33	Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)	Smith F.J.... McLean W.H.I.	2000
34	Pictorial CME. Reiter's syndrome with keratoderma blenorrhagica. (10778528)	Chogle A.R.... Sahu D.	1999
35	Symmetrical progressive erythro-keratoderma. (20921653)	Sunil G.... Usha K.	1999
36	Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. (9856479)	Richard G.... Bale S.J.	1998
37	Spiny keratoderma: a common under-reported dermatosis. (9675341)	Horton S.L.... Aronson P.	1998
38	Mutilating keratoderma with deaf-mutism. (20948071)	Rastogi S.... Mukhija R.D.	1996
39	A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. (7528239)	Kimonis V.... Compton J.G.	1994
40	Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. (7516304)	Hennies H.-C.... Reis A.	1994
41	Cell turnover time of stratum corneum on soles in patients with hereditary palmoplantar keratoderma. (7904111)	Nielsen P.G.	1993
42	Palmoplantar keratoderma with cutaneous horns. (1534079)	Sehgal V.N.... Jain S.	1992
43	Keratoderma hereditaria mutilans. Etretinate treatment and electron microscope studies. (1445089)	Palungwachira P.... Ogawa H.	1992
44	Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia: a new syndrome. (1832929)	Judge M.R.... Harper J.I.	1991
45	Arteriohepatic dysplasia (Alagille's syndrome) with keratoderma. (2526877)	Monk B.E.... Ellis J.P.	1989
46	Hereditary palmoplantar keratoderma and dermatophytosis. (2968959)	Nielsen P.G.	1988
47	Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. (2935332)	Gamborg Nielsen P.	1985
48	Skin pH on soles in patients with hereditary palmoplantar keratoderma and pathogenicity of dermatophytes. (3162099)	Nielsen P.G.	1985
49	Epidermolytic palmo-plantar keratoderma. (6241180)	Thomas J.R.... Su W.P.	1984
50	Hereditary palmo-plantar keratoderma: incidence of dermatophyte infections and the results of topical treatment with retinoic acid. (6172942)	Elmros T.... LidAcn S.	1981

Genes related to Keratoderma

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Keratoderma:

- Elite gene

id	Symbol	Description	Score	Implication
1	KRT16	keratin 16	21.67	GeneCards inferred via : Disorders, Publications, Gene name, Summaries (show sections)
2	KRT9	keratin 9	19.09	GeneCards inferred via : Publications, Disorders, Gene name, Summaries (show sections)
3	AAGAB	alpha- and gamma-adaptin binding protein	16.44	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
4	KRT1	keratin 1	13.85	GeneCards inferred via : Publications, Disorders (show sections)
5	GJB2	gap junction protein, beta 2, 26kDa	11.32	GeneCards inferred via : Publications, Disorders (show sections)
6	DSG1	desmoglein 1	8.80	GeneCards inferred via : Publications, Disorders (show sections)
7	DSP	desmoplakin	6.29	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
8	KRT17	keratin 17	3.78	GeneCards inferred via : Publications, Disorders (show sections)

Products for genes related to Keratoderma disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	7	-	8	8
2	Novus Biologicals	6	6	8	-

Variations for Keratoderma

Expression for genes affiliated with Keratoderma

Sources:
²BioGPS, ¹⁶Gene 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:
⁴⁹PathCards, ⁵⁴Reactome, ³⁷NCBI BioSystems Database, ⁵⁹Thomson Reuters
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Pathways related to Keratoderma according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Apoptotic cleavage of cellular proteins⁵⁴ Show member pathways Caspase-mediated cleavage of cytoskeletal proteins⁵⁴ E-cadherin signaling events³⁷ Apoptotic cleavage of cell adhesion proteins⁵⁴ Apoptotic execution phase⁵⁴	9.0	DSG1, DSP
2	Cytoskeleton remodeling Keratin filaments⁵⁹	8.3	KRT16, KRT1, KRT17, DSP

Compounds for genes affiliated with Keratoderma

Sources:
⁴⁴Novoseek, ¹²DrugBank, ²⁵HMDB, ²⁹IUPHAR, ⁶⁰Tocris Bioscience
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Compounds related to Keratoderma according to GeneCards/GeneDecks:

(show all 11)

id	Compound	Score	Top Affiliating Genes
1	isotretinoin⁴⁴ ¹²	10.7	KRT1, KRT16
2	sodium dodecylsulfate⁴⁴	9.3	KRT17, KRT1, KRT16
3	asparagine⁴⁴	9.2	KRT1, KRT17, GJB2
4	proline⁴⁴	9.1	KRT16, KRT1, GJB2
5	retinoid⁴⁴	8.9	GJB2, KRT17, KRT1, KRT16
6	steroid⁴⁴	8.9	KRT16, KRT1, DSP
7	paraffin⁴⁴	8.8	GJB2, KRT17, KRT1, KRT16
8	sucrose⁴⁴ ²⁵ ¹²	10.6	GJB2, DSG1, DSP
9	progesterone⁴⁴ ²⁹ ⁶⁰ ²⁵ ¹²	12.4	DSP, GJB2, KRT1
10	serine⁴⁴	7.8	DSP, DSG1, KRT17, KRT1, KRT16
11	retinoic acid⁴⁴ ²⁵	8.4	KRT16, KRT1, KRT17, GJB2, DSG1, DSP

GO Terms for genes affiliated with Keratoderma

Sources:
¹⁷Gene Ontology
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Cellular components related to Keratoderma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lateral plasma membrane	GO:016328	9.3	GJB2, DSG1
2	desmosome	GO:030057	8.7	DSG1, DSP
3	intermediate filament	GO:005882	8.4	KRT16, KRT9, KRT17, DSP
4	extracellular vesicular exosome	GO:070062	7.9	DSP, KRT17, KRT1, KRT9, KRT16

Biological processes related to Keratoderma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell adhesion	GO:016337	9.0	DSG1, DSP
2	cellular component disassembly involved in execution phase of apoptosis	GO:006921	8.7	DSG1, DSP
3	intermediate filament organization	GO:045109	8.7	DSP, KRT17, KRT9
4	epidermis development	GO:008544	8.4	KRT16, KRT9, KRT17, DSP

Molecular functions related to Keratoderma according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:005200	8.4	KRT16, KRT9, KRT17, DSP

Products for genes affiliated with Keratoderma

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Keratoderma

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: KRT012 MIFTS: 45	Keratoderma malady Genetic diseases (common), Skin diseases categories
8 genes, 13 tissues, 241 related diseases, clinical trials, genetic tests Download this MalaCard Expand all tables

Keratoderma malady