NEPPK
MCID: PLM136
MIFTS: 39

Palmoplantar Keratoderma, Nonepidermolytic (NEPPK)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 57 13 73
Nonepidermolytic Palmoplantar Keratoderma 57 12 75 29 6 15
Tylosis 57 12 75
Neppk 57 75 55
Keratoderma, Palmoplantar, Diffuse 44 73
Unna-Thost Syndrome 12 73
Diffuse Nonepidermolytic Palmomplantar Keratoderma 12
Keratoderma, Palmoplantar, Non-Epidermolytic 75
Keratoderma, Palmoplantar, Nonepidermolytic 40
Keratoderma, Nonepidermolytic Palmoplantar 57
Non-Epidermolytic Unna-Thost Disease 75
Nonepidermolytic Unna-Thost Disease 75
Thost-Unna Syndrome 12
Hyperkeratosis 73
Ppkne 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, nonepidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600962
Disease Ontology 12 DOID:0050428
NCIt 50 C3147
SNOMED-CT 68 28596004 81206005
MedGen 42 C1833030
SNOMED-CT via HPO 69 263681008

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

UniProtKB/Swiss-Prot : 75 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 palmoplantar keratoderma, nonepidermolytic, focal 1 and palmoplantar keratoderma, epidermolytic. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, heart and palms, and related phenotypes are nonepidermolytic palmoplantar keratoderma and integument

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

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:

57
Skin Nails Hair Skin Histology:
hyperkeratosis of stratum corneum
no cytolysis
no abnormal keratohyalin granules

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

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


Clinical features from OMIM:

600962

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

32
# Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma 32 HP:0007404

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 KRT1 KRT16 RHBDF1 RHBDF2 TRPV3

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 Nonepidermolytic Palmoplantar Keratoderma 29 KRT1

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

41
Skin, Heart

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

19
Palms, Soles

Publications for Palmoplantar Keratoderma, Nonepidermolytic

Articles related to Palmoplantar Keratoderma, Nonepidermolytic:

# Title Authors Year
1
A novel heterozygous missense mutation of the desmoglein 1 gene in a Chinese family with diffuse nonepidermolytic palmoplantar keratoderma. ( 29770786 )
2018
2
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. ( 26032342 )
2016
3
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. ( 23830519 )
2013
4
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). ( 20486455 )
2010
5
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. ( 15897387 )
2005
6
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. ( 9610536 )
1998
7
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. ( 9216520 )
1997
8
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:

75
# Symbol AA change Variation ID SNP ID
1 KRT1 p.Lys74Ile VAR_017819 rs57977969

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

6 (show top 50) (show all 64)
# 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 NM_006121.3(KRT1): c.221A> T (p.Lys74Ile) single nucleotide variant Pathogenic rs57977969 GRCh38 Chromosome 12, 52680128: 52680128
3 KRT1 KRT1, IVS1, T-A, +2 single nucleotide variant Pathogenic
4 KRT1 KRT1, 24-BP DEL, NT1376 deletion Pathogenic
5 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh37 Chromosome 12, 53070174: 53070174
6 KRT1 NM_006121.3(KRT1): c.1360G> T (p.Ala454Ser) single nucleotide variant Likely benign rs17678945 GRCh38 Chromosome 12, 52676390: 52676390
7 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh37 Chromosome 12, 53070145: 53070145
8 KRT1 NM_006121.3(KRT1): c.1389C> T (p.Arg463=) single nucleotide variant Benign rs936958 GRCh38 Chromosome 12, 52676361: 52676361
9 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh37 Chromosome 12, 53074058: 53074058
10 KRT1 NM_006121.3(KRT1): c.75C> T (p.Ile25=) single nucleotide variant Likely benign rs828367 GRCh38 Chromosome 12, 52680274: 52680274
11 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh37 Chromosome 12, 53068886: 53068886
12 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh38 Chromosome 12, 52675102: 52675102
13 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh37 Chromosome 12, 53069000: 53069000
14 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh38 Chromosome 12, 52675216: 52675216
15 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh38 Chromosome 12, 52675738: 52675738
16 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh37 Chromosome 12, 53069522: 53069522
17 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh38 Chromosome 12, 52676261: 52676261
18 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh37 Chromosome 12, 53070045: 53070045
19 KRT1 NM_006121.3(KRT1): c.1074C> T (p.Tyr358=) single nucleotide variant Likely benign rs150503977 GRCh38 Chromosome 12, 52677370: 52677370
20 KRT1 NM_006121.3(KRT1): c.1074C> T (p.Tyr358=) single nucleotide variant Likely benign rs150503977 GRCh37 Chromosome 12, 53071154: 53071154
21 KRT1 NM_006121.3(KRT1): c.1035C> T (p.Leu345=) single nucleotide variant Likely benign rs192365492 GRCh38 Chromosome 12, 52677409: 52677409
22 KRT1 NM_006121.3(KRT1): c.1035C> T (p.Leu345=) single nucleotide variant Likely benign rs192365492 GRCh37 Chromosome 12, 53071193: 53071193
23 KRT1 NM_006121.3(KRT1): c.1031G> A (p.Ser344Asn) single nucleotide variant Likely benign rs769218372 GRCh38 Chromosome 12, 52677413: 52677413
24 KRT1 NM_006121.3(KRT1): c.1031G> A (p.Ser344Asn) single nucleotide variant Likely benign rs769218372 GRCh37 Chromosome 12, 53071197: 53071197
25 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh38 Chromosome 12, 52678586: 52678586
26 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh37 Chromosome 12, 53072370: 53072370
27 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh38 Chromosome 12, 52679975: 52679975
28 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh37 Chromosome 12, 53073759: 53073759
29 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh38 Chromosome 12, 52680047: 52680047
30 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh37 Chromosome 12, 53073831: 53073831
31 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh37 Chromosome 12, 53069243: 53069243
32 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh38 Chromosome 12, 52675459: 52675459
33 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh37 Chromosome 12, 53069385: 53069385
34 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh38 Chromosome 12, 52675601: 52675601
35 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh38 Chromosome 12, 52677337: 52677337
36 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh37 Chromosome 12, 53071121: 53071121
37 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh38 Chromosome 12, 52678764: 52678764
38 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh37 Chromosome 12, 53072548: 53072548
39 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh37 Chromosome 12, 53068605: 53068605
40 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh38 Chromosome 12, 52674821: 52674821
41 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh37 Chromosome 12, 53068633: 53068633
42 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh38 Chromosome 12, 52674849: 52674849
43 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh37 Chromosome 12, 53069235: 53069235
44 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh38 Chromosome 12, 52675451: 52675451
45 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh37 Chromosome 12, 53069498: 53069498
46 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh38 Chromosome 12, 52675714: 52675714
47 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh38 Chromosome 12, 52677462: 52677462
48 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh37 Chromosome 12, 53071246: 53071246
49 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh38 Chromosome 12, 52678607: 52678607
50 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh37 Chromosome 12, 53072391: 53072391

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
11.59 KRT1 KRT16 KRT6C
2
Show member pathways
10.83 KRT1 KRT16 KRT6C

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 keratin filament GO:0045095 8.96 KRT1 KRT6C
2 intermediate filament GO:0005882 8.8 KRT1 KRT16 KRT6C

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.58 KRT1 KRT16 KRT6C
2 intermediate filament cytoskeleton organization GO:0045104 9.37 KRT16 KRT6C
3 establishment of skin barrier GO:0061436 9.32 KRT1 KRT16
4 negative regulation of protein secretion GO:0050709 9.26 RHBDF1 RHBDF2
5 regulation of protein secretion GO:0050708 9.16 RHBDF1 RHBDF2
6 cornification GO:0070268 9.13 KRT1 KRT16 KRT6C
7 regulation of epidermal growth factor receptor signaling pathway GO:0042058 8.62 RHBDF1 RHBDF2

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 RHBDF1 RHBDF2
2 structural molecule activity GO:0005198 8.8 KRT1 KRT16 KRT6C

Sources for Palmoplantar Keratoderma, Nonepidermolytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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