MCID: PLM136
MIFTS: 40

Palmoplantar Keratoderma, Nonepidermolytic

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 53 28 13 69
Nonepidermolytic Palmoplantar Keratoderma 53 12 71 14
Tylosis 53 12 71
Neppk 53 71 51
Keratoderma, Palmoplantar, Diffuse 41 69
Unna-Thost Syndrome 12 69
Hyperkeratosis 69 28
Diffuse Nonepidermolytic Palmomplantar Keratoderma 12
Keratoderma, Palmoplantar, Non-Epidermolytic 71
Keratoderma, Nonepidermolytic Palmoplantar 53
Non-Epidermolytic Unna-Thost Disease 71
Nonepidermolytic Unna-Thost Disease 71
Diffuse Palmoplantar Keratoderma 28
Thost-Unna Syndrome 12
Ppkne 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
palmoplantar keratoderma, nonepidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 600962
Disease Ontology 12 DOID:0050428
NCIt 46 C3147
MedGen 39 C1833030
SNOMED-CT via HPO 65 263681008

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

UniProtKB/Swiss-Prot : 71 Keratoderma, palmoplantar, non-epidermolytic: A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to ichthyosis, cyclic, with epidermolytic hyperkeratosis and palmoplantar keratoderma, bothnian type, and has symptoms including nonepidermolytic palmoplantar keratoderma An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, palms and soles.

Disease Ontology : 12 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

Description from OMIM: 600962

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, cyclic, with epidermolytic hyperkeratosis 33.2 KRT1 KRT10
2 palmoplantar keratoderma, bothnian type 32.3 KRT1 KRT9
3 epidermolytic hyperkeratosis 31.9 FLG KRT1 KRT10 KRT16 KRT9 LOR
4 palmoplantar keratoderma, epidermolytic 31.9 KRT1 KRT16 KRT9
5 palmoplantar keratosis 29.1 CTSC GJB3 KRT1 KRT10 KRT16 KRT9
6 tylosis with esophageal cancer 12.5
7 palmoplantar keratoderma, nonepidermolytic, focal 1 12.4
8 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.3
9 hyperkeratosis lenticularis perstans 12.3
10 diffuse palmoplantar keratoderma, bothnian type 12.2
11 palmoplantar keratoderma, nonepidermolytic, focal 2 12.2
12 diffuse palmoplantar keratoderma-acrocyanosis syndrome 12.2
13 ankylosing vertebral hyperostosis with tylosis 12.2
14 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 12.1
15 focal acral hyperkeratosis 12.0
16 hyperkeratosis-hyperpigmentation syndrome 12.0
17 acquired hyperkeratosis 11.9
18 knuckle pads 10.1 GJB3 KRT9
19 erythroderma, ichthyosiform, congenital reticular 10.1 KRT1 KRT10
20 recessive dystrophic epidermolysis bullosa 10.1 FLG KRT1
21 dermatitis, atopic, 2 10.1 FLG LOR
22 pseudoainhum 10.1 GJB3 LOR
23 irritant dermatitis 10.1 FLG KRT16
24 steatocystoma multiplex 10.0 KRT10 KRT16
25 bowen's disease 10.0 KRT10 KRT16
26 squamous cell carcinoma of the oral tongue 10.0 KRT10 KRT16
27 molluscum contagiosum 10.0 FLG LOR
28 monilethrix 10.0 KRT16 KRT9
29 erythrokeratodermia variabilis et progressiva 1 10.0 GJB3 LOR
30 pinguecula 9.9 KRT10 KRT16
31 ichthyosis, x-linked 9.9 FLG KRT10
32 primary cutaneous amyloidosis 9.9 KRT10 KRT16
33 epidermolytic acanthoma 9.9 KRT1 KRT10 KRT9
34 acanthoma 9.9 KRT1 KRT10 KRT9
35 ichthyosis vulgaris 9.9 FLG KRT1 LOR
36 contact dermatitis 9.8 FLG KRT16
37 ichthyosis, congenital, autosomal recessive 1 9.8 FLG KRT10
38 filamentary keratitis 9.8 FLG KRT1 KRT10
39 epidermolysis bullosa simplex 9.8 FLG KRT1 KRT10
40 epidermodysplasia verruciformis 9.8 FLG KRT1 KRT10
41 papilloma 9.7 FLG KRT1 KRT10
42 discoid lupus erythematosus 9.7 FLG KRT10 KRT16
43 keratoacanthoma 9.7 FLG KRT10 KRT16
44 cholesteatoma 9.7 FLG KRT10 KRT16
45 lichen planus 9.7 FLG KRT10 KRT16
46 porokeratosis 9.6 FLG LOR
47 white sponge nevus 1 9.6 KRT1 KRT10 KRT16 KRT9
48 ichthyosis bullosa of siemens 9.6 KRT1 KRT10 KRT16 KRT9
49 striate palmoplantar keratoderma 9.6 CTSC KRT1 KRT10
50 pachyonychia congenita 1 9.5 FLG KRT10 KRT16 KRT9

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



Diseases related to Palmoplantar Keratoderma, Nonepidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
smooth, waxy, thick skin over palms and soles, desquamating in large flakes
well-defined erythematous border
deep fissures of skin creases
skin over joint surfaces of hands and feet is thick, red, and edematous
hyperkeratosis of skin at nipples and umbilicus

Skin Nails Hair Skin Electron Microscopy:
no aggregated tonofilaments
no large keratohyalin granules

Skin Nails Hair Skin Histology:
hyperkeratosis of stratum corneum
no cytolysis
no abnormal keratohyalin granules


Clinical features from OMIM:

600962

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

31
# Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma 31 HP:0007404

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic

Cochrane evidence based reviews: keratoderma, palmoplantar, diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic 28 KRT1
2 Hyperkeratosis 28
3 Diffuse Palmoplantar Keratoderma 28

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

38
Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

18
Palms, Soles

Publications for Palmoplantar Keratoderma, Nonepidermolytic

Articles related to Palmoplantar Keratoderma, Nonepidermolytic:

# Title Authors Year
1
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. ( 26032342 )
2016
2
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. ( 23830519 )
2013
3
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). ( 20486455 )
2010
4
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. ( 15897387 )
2005
5
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. ( 9610536 )
1998
6
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. ( 9216520 )
1997
7
Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. ( 8595410 )
1995

Variations for Palmoplantar Keratoderma, Nonepidermolytic

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

71
# Symbol AA change Variation ID SNP ID
1 KRT1 p.Lys74Ile VAR_017819 rs57977969

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 NM_006121.3(KRT1): c.221A> T (p.Lys74Ile) single nucleotide variant Pathogenic rs57977969 GRCh37 Chromosome 12, 53073912: 53073912
2 KRT1 KRT1, IVS1, T-A, +2 single nucleotide variant Pathogenic
3 KRT1 KRT1, 24-BP DEL, NT1376 deletion Pathogenic

Expression for Palmoplantar Keratoderma, Nonepidermolytic

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic.

Pathways for Palmoplantar Keratoderma, Nonepidermolytic

Pathways related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 FLG KRT1 KRT10 KRT16 KRT9 LOR
2
Show member pathways
11.56 FLG KRT1 KRT10 KRT16 KRT9 LOR

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic

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

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.26 FLG KRT1 KRT10 LOR
2 intermediate filament GO:0005882 9.02 FLG KRT1 KRT10 KRT16 KRT9

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

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.56 FLG KRT10 KRT16 LOR
2 keratinization GO:0031424 9.55 KRT1 KRT10 KRT16 KRT9 LOR
3 establishment of skin barrier GO:0061436 9.5 FLG KRT1 KRT16
4 skin development GO:0043588 9.37 GJB3 KRT9
5 peptide cross-linking GO:0018149 9.26 FLG KRT1 KRT10 LOR
6 cornification GO:0070268 9.1 FLG KRT1 KRT10 KRT16 KRT9 LOR

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.35 FLG KRT1 KRT10 KRT16 LOR
2 structural constituent of cytoskeleton GO:0005200 9.33 KRT16 KRT9 LOR
3 structural constituent of epidermis GO:0030280 8.92 FLG KRT1 KRT10 LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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