Focal Palmoplantar Keratoderma malady

Genetics Home Reference: Focal palmoplantar keratoderma is a skin condition characterized by the development of painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. The skin abnormalities usually begin in childhood, and they primarily affect areas that experience trauma or friction. Severe blisters and calluses on the feet can cause pain and difficulty walking.¹⁷

MalaCards: Focal Palmoplantar Keratoderma, also known as palmoplantar keratoderma, nonepidermolytic, focal, is related to keratoderma and pachyonychia congenita. An important gene associated with Focal Palmoplantar Keratoderma is KRT6C (keratin 6C), and among its related pathways are Cytoskeleton remodeling_Keratin filaments and Cytoskeleton remodeling Keratin filaments. The compounds isotretinoin and sodium dodecylsulfate have been mentioned in the context of this disorder. Affiliated tissues include skin.

focal palmoplantar keratoderma 17 palmoplantar keratoderma, nonepidermolytic, focal 43 palmoplantar keratosis 43

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Diseases related to focal palmoplantar keratoderma by text searches and GeneDecks gene sharing:

(show all 33)

id	Related Disease	Score	Top Affiliating Genes
1	keratoderma	30.8	DSG1, KRT6C, KRT1, KRT16, GJB2
2	pachyonychia congenita	30.4	KRT6C, KRT16
3	palmoplantar keratosis	30.3	DSG1, KRT6C, KRT1, GJB2
4	epidermolytic palmoplantar keratoderma	29.0	KRT1, KRT16
5	nonepidermolytic palmoplantar keratoderma	28.5	KRT16, DSG1
6	keratosis	26.3	DSG1, KRT6C, KRT1, KRT16, GJB2
7	epidermolytic acanthoma	12.7	KRT16, KRT1
8	acanthoma	12.7	KRT16, KRT1
9	bowen syndrome	12.6	KRT1, KRT16
10	epidermolytic hyperkeratosis	12.6	KRT16, KRT1
11	epidermolysis bullosa simplex	12.6	KRT1, KRT16
12	ectodermal dysplasia	12.5	KRT16, GJB2
13	middle ear cholesteatoma	12.5	KRT16, KRT1
14	keratitis	12.4	GJB2, KRT16
15	nevus	12.4	KRT16, KRT1
16	keratoacanthoma	12.3	KRT16, DSG1
17	acne	12.3	KRT16, KRT1
18	oral lichen planus	12.2	KRT1, KRT16
19	cholesteatoma	12.1	GJB2, KRT16, KRT1
20	ichthyosis	12.1	GJB2, KRT16, KRT1
21	urinary bladder cancer	12.0	GJB2, KRT1
22	lichen planus	11.8	KRT16, KRT1, DSG1
23	skin disease	11.4	DSG1, KRT1, KRT16, GJB2
24	mayer-rokitansky-kuster-hauser syndrome	11.3	DSG1, KRT1, KRT16, GJB2
25	psoriasis	11.3	DSG1, KRT1, KRT16, GJB2
26	squamous cell carcinoma	11.1	GJB2, KRT16, KRT1, DSG1
27	keratoderma palmoplantar deafness	7.5
28	palmoplantar keratoderma, nonepidermolytic, focal	7.5
29	periodontal disease	6.6
30	periodontitis	6.6
31	unna-thost palmoplantar keratoderma	6.6
32	palmoplantar keratoderma of sybert	6.6
33	palmoplantar keratoderma, bothnia type	6.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to focal palmoplantar keratoderma:

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Articles related to focal palmoplantar keratoderma:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. (20081885)	Bowden P.E.	2010	KRT6C
2	A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. (18787097)	de Zwart-Storm E.A.... van Steensel M.A.	2008	GJB2
3	A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (17993581)	de Zwart-Storm E.A.... van Steensel M.A.M.	2008	GJB2
4	Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. (16484817)	Milingou M.... Borradori L.	2006	DSG1
5	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	KRT16

Genes related to focal palmoplantar keratoderma according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KRT6C	keratin 6C	11.0	Publications
2	KRT16	keratin 16	11.0	Publications
3	KRT1	keratin 1	11.0
4	DSG1	desmoglein 1	11.0	Publications
5	GJB2	gap junction protein, beta 2, 26kDa	11.0	Publications

Pathways related to focal palmoplantar keratoderma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cytoskeleton remodeling_Keratin filaments41	8.9	KRT16, KRT1, KRT6C
2	Cytoskeleton remodeling Keratin filaments10	8.6	KRT16, KRT1, KRT6C

Compounds related to focal palmoplantar keratoderma according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	isotretinoin32 9 9	11.4	KRT1, KRT16
2	sodium dodecylsulfate32	9.3	KRT1, KRT16
3	asparagine32	9.0	GJB2, KRT1
4	retinoid32	9.0	GJB2, KRT16, KRT1
5	paraffin32	8.8	GJB2, KRT16, KRT1
6	proline32	8.7	KRT1, KRT16, GJB2
7	retinoic acid32 42 18	10.1	GJB2, DSG1, KRT1, KRT16

Cellular components related to focal palmoplantar keratoderma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	keratin filament	GO:045095	9.4	KRT1, KRT6C
2	intermediate filament	GO:005882	8.6	KRT16, KRT1, KRT6C

Biological processes related to focal palmoplantar keratoderma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton organization	GO:007010	9.5	KRT16, KRT6C
2	epidermis development	GO:008544	9.0	KRT16, KRT1

Molecular functions related to focal palmoplantar keratoderma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:005200	9.3	KRT16, KRT1