MCID: FCL029
MIFTS: 25

Focal Palmoplantar Keratoderma malady

Skin diseases category

Aliases & Classifications for Focal Palmoplantar Keratoderma

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Aliases & Descriptions for Focal Palmoplantar Keratoderma:

Name: Focal Palmoplantar Keratoderma 23
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 65
Focal Non-Epidermolytic Palmoplantar Keratoderma 23
 
Fneppk 23
Fppk 23


Classifications:



Summaries for Focal Palmoplantar Keratoderma

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Genetics Home Reference:23 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.

MalaCards based summary: Focal Palmoplantar Keratoderma, also known as hyperkeratosis of the palms and soles and esophageal papillomas, is related to palmoplantar keratoderma, nonepidermolytic and autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering. An important gene associated with Focal Palmoplantar Keratoderma is TRPV3 (Transient Receptor Potential Cation Channel, Subfamily V, Member 3), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and craniofacial.

Related Diseases for Focal Palmoplantar Keratoderma

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Diseases related to Focal Palmoplantar Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, nonepidermolytic30.1DSG1, GJB2, KRT16, KRT17
2autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering10.7
3pachyonychia congenita10.5
4focal palmoplantar keratoderma with joint keratoses10.5
5keratoderma, palmoplantar, with deafness10.3
6palmoplantar keratoderma, nonepidermolytic, focal 210.3
7palmoplantar keratoderma, nonepidermolytic, focal10.3
8pachyonychia congenita 210.1KRT16, KRT6C
9obesity with impaired prohormone processing10.1KRT16, KRT6A
10obesity bmiq1210.1KRT16, KRT6A
11erysipelas10.1GJB2, TRPV3
12hypertensive heart disease10.1KRT16, KRT6A
13tongue cancer10.1KRT16, KRT17
14pili torti10.1KRT16, KRT17
15sclerosteosis 110.0KRT16, KRT17
16troyer syndrome10.0GJB2, TRPV3
17palmoplantar keratoderma, epidermolytic10.0KRT16, KRT17
18nasal cavity cancer10.0KRT6A, KRT6B
19tonsil cancer10.0KRT6A, KRT6B
20bowenoid papulosis9.9KRT16, KRT17
21epidermolytic hyperkeratosis9.9KRT16, KRT17, KRT6A
22monilethrix9.9KRT16, KRT17, KRT6A
23white sponge nevus 19.9KRT16, KRT6A, KRT6B
24steatocystoma multiplex9.9KRT16, KRT17, KRT6B
25arterial calcification of infancy9.9KRT16, KRT17
26keratoconjunctivitis9.8DSG1, KRT16, KRT17
27pancoast tumor9.8DSG1, GJB2, KRT16
28familiar ovarian carcinoma9.7KRT16, KRT17, KRT6A, KRT6B
29glossopharyngeal nerve disease9.7KRT16, KRT17, KRT6A, KRT6B
30brugada syndrome9.7KRT16, KRT17, KRT6A, KRT6B
31small intestine lymphoma9.4DSG1, GJB2, KRT16, KRT17, KRT6A
32foxg1 syndrome8.9DSG1, GJB2, KRT16, KRT17, KRT6A, KRT6B

Graphical network of the top 20 diseases related to Focal Palmoplantar Keratoderma:



Diseases related to focal palmoplantar keratoderma

Symptoms for Focal Palmoplantar Keratoderma

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Drugs & Therapeutics for Focal Palmoplantar Keratoderma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Focal Palmoplantar Keratoderma

Genetic Tests for Focal Palmoplantar Keratoderma

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Anatomical Context for Focal Palmoplantar Keratoderma

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MalaCards organs/tissues related to Focal Palmoplantar Keratoderma:

33
Skin

Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4KRT16, KRT17, KRT6A, KRT6B
2MP:00053828.1GJB2, KRT16, KRT17, KRT6A, KRT6B
3MP:00107717.7GJB2, KRT16, KRT17, KRT6A, KRT6B, TRPV3

Publications for Focal Palmoplantar Keratoderma

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Articles related to Focal Palmoplantar Keratoderma:

(show all 13)
idTitleAuthorsYear
1
A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family. (25285920)
2014
2
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. (24357266)
2013
3
A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma. (21668426)
2011
4
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. (21801157)
2011
5
Keratin K6c mutations cause focal palmoplantar keratoderma. (19609311)
2010
6
Keratin k6c mutations in focal palmoplantar keratoderma]. (20470930)
2010
7
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. (20081885)
2010
8
Focal palmoplantar keratoderma with epidermolytic degeneration. (18554216)
2009
9
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. (18787097)
2008
10
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (17993581)
2008
11
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. (16484817)
2006
12
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
13
Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity. (2958375)
1987

Variations for Focal Palmoplantar Keratoderma

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Expression for genes affiliated with Focal Palmoplantar Keratoderma

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Search GEO for disease gene expression data for Focal Palmoplantar Keratoderma.

Pathways for genes affiliated with Focal Palmoplantar Keratoderma

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Pathways related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7KRT16, KRT17, KRT6A, KRT6C
28.5KRT17, KRT6A, KRT6B, KRT6C

GO Terms for genes affiliated with Focal Palmoplantar Keratoderma

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Cellular components related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:00450959.5KRT6A, KRT6B, KRT6C
2lateral plasma membraneGO:00163288.8DSG1, GJB2
3intermediate filamentGO:00058828.7KRT16, KRT17, KRT6A, KRT6B, KRT6C
4extracellular exosomeGO:00700627.3DSG1, KRT16, KRT17, KRT6A, KRT6B, KRT6C

Biological processes related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.6KRT16, KRT17
2epidermis developmentGO:00085449.6KRT16, KRT17
3intermediate filament cytoskeleton organizationGO:00451049.5KRT16, KRT6A, KRT6C
4response to progesteroneGO:00325709.2DSG1, GJB2
5morphogenesis of an epitheliumGO:00020098.9KRT16, KRT17, KRT6A

Molecular functions related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052008.5KRT16, KRT17, KRT6A, KRT6B
2structural molecule activityGO:00051987.8KRT16, KRT17, KRT6A, KRT6B, KRT6C

Sources for Focal Palmoplantar Keratoderma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet