MCID: PLM136
MIFTS: 39

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 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
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 Developmental Biology and Keratinization. Affiliated tissues include skin, palms and soles, 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:
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:

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 9.35 KRT1 KRT16 KRT17 RHBDF2 TRPV3
2 pigmentation MP:0001186 8.8 KRT1 KRT17 RHBDF2

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

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
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:

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 58)
# 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.*91T> C single nucleotide variant Likely benign rs560913567 GRCh37 Chromosome 12, 53068886: 53068886
6 KRT1 NM_006121.3(KRT1): c.*91T> C single nucleotide variant Likely benign rs560913567 GRCh38 Chromosome 12, 52675102: 52675102
7 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh37 Chromosome 12, 53069000: 53069000
8 KRT1 NM_006121.3(KRT1): c.1912A> G (p.Thr638Ala) single nucleotide variant Likely benign rs140098565 GRCh38 Chromosome 12, 52675216: 52675216
9 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh38 Chromosome 12, 52675738: 52675738
10 KRT1 NM_006121.3(KRT1): c.1482T> C (p.Ser494=) single nucleotide variant Likely benign rs181516749 GRCh37 Chromosome 12, 53069522: 53069522
11 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh38 Chromosome 12, 52676261: 52676261
12 KRT1 NM_006121.3(KRT1): c.1475+14G> A single nucleotide variant Uncertain significance rs369324638 GRCh37 Chromosome 12, 53070045: 53070045
13 KRT1 NM_006121.3(KRT1): c.1074C> T (p.Tyr358=) single nucleotide variant Likely benign rs150503977 GRCh38 Chromosome 12, 52677370: 52677370
14 KRT1 NM_006121.3(KRT1): c.1074C> T (p.Tyr358=) single nucleotide variant Likely benign rs150503977 GRCh37 Chromosome 12, 53071154: 53071154
15 KRT1 NM_006121.3(KRT1): c.1035C> T (p.Leu345=) single nucleotide variant Likely benign rs192365492 GRCh38 Chromosome 12, 52677409: 52677409
16 KRT1 NM_006121.3(KRT1): c.1035C> T (p.Leu345=) single nucleotide variant Likely benign rs192365492 GRCh37 Chromosome 12, 53071193: 53071193
17 KRT1 NM_006121.3(KRT1): c.1031G> A (p.Ser344Asn) single nucleotide variant Likely benign rs769218372 GRCh38 Chromosome 12, 52677413: 52677413
18 KRT1 NM_006121.3(KRT1): c.1031G> A (p.Ser344Asn) single nucleotide variant Likely benign rs769218372 GRCh37 Chromosome 12, 53071197: 53071197
19 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh38 Chromosome 12, 52678586: 52678586
20 KRT1 NM_006121.3(KRT1): c.762G> A (p.Ser254=) single nucleotide variant Likely benign rs2741155 GRCh37 Chromosome 12, 53072370: 53072370
21 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh38 Chromosome 12, 52679975: 52679975
22 KRT1 NM_006121.3(KRT1): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance rs886049636 GRCh37 Chromosome 12, 53073759: 53073759
23 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh38 Chromosome 12, 52680047: 52680047
24 KRT1 NM_006121.3(KRT1): c.302G> T (p.Gly101Val) single nucleotide variant Uncertain significance rs147840212 GRCh37 Chromosome 12, 53073831: 53073831
25 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh37 Chromosome 12, 53069243: 53069243
26 KRT1 NM_006121.3(KRT1): c.1669A> G (p.Ser557Gly) single nucleotide variant Likely benign rs77846840 GRCh38 Chromosome 12, 52675459: 52675459
27 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh37 Chromosome 12, 53069385: 53069385
28 KRT1 NM_006121.3(KRT1): c.1527C> T (p.His509=) single nucleotide variant Uncertain significance rs371428130 GRCh38 Chromosome 12, 52675601: 52675601
29 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh38 Chromosome 12, 52677337: 52677337
30 KRT1 NM_006121.3(KRT1): c.1107C> T (p.Ala369=) single nucleotide variant Likely benign rs183980482 GRCh37 Chromosome 12, 53071121: 53071121
31 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh38 Chromosome 12, 52678764: 52678764
32 KRT1 NM_006121.3(KRT1): c.592-8G> A single nucleotide variant Likely benign rs147622831 GRCh37 Chromosome 12, 53072548: 53072548
33 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh37 Chromosome 12, 53068605: 53068605
34 KRT1 NM_006121.3(KRT1): c.*372G> A single nucleotide variant Uncertain significance rs886049633 GRCh38 Chromosome 12, 52674821: 52674821
35 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh37 Chromosome 12, 53068633: 53068633
36 KRT1 NM_006121.3(KRT1): c.*344C> T single nucleotide variant Benign rs11170231 GRCh38 Chromosome 12, 52674849: 52674849
37 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh37 Chromosome 12, 53069235: 53069235
38 KRT1 NM_006121.3(KRT1): c.1677C> T (p.Tyr559=) single nucleotide variant Benign rs11170232 GRCh38 Chromosome 12, 52675451: 52675451
39 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh37 Chromosome 12, 53069498: 53069498
40 KRT1 NM_006121.3(KRT1): c.1506T> C (p.Ser502=) single nucleotide variant Likely benign rs34154891 GRCh38 Chromosome 12, 52675714: 52675714
41 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh38 Chromosome 12, 52677462: 52677462
42 KRT1 NM_006121.3(KRT1): c.982A> T (p.Thr328Ser) single nucleotide variant Likely benign rs139428176 GRCh37 Chromosome 12, 53071246: 53071246
43 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh38 Chromosome 12, 52678607: 52678607
44 KRT1 NM_006121.3(KRT1): c.741T> C (p.Ser247=) single nucleotide variant Likely benign rs56895471 GRCh37 Chromosome 12, 53072391: 53072391
45 KRT1 NM_006121.3(KRT1): c.477G> C (p.Gln159His) single nucleotide variant Uncertain significance rs886049635 GRCh38 Chromosome 12, 52679872: 52679872
46 KRT1 NM_006121.3(KRT1): c.477G> C (p.Gln159His) single nucleotide variant Uncertain significance rs886049635 GRCh37 Chromosome 12, 53073656: 53073656
47 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh38 Chromosome 12, 52680092: 52680092
48 KRT1 NM_006121.3(KRT1): c.257G> A (p.Arg86His) single nucleotide variant Uncertain significance rs886049637 GRCh37 Chromosome 12, 53073876: 53073876
49 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh38 Chromosome 12, 52680236: 52680236
50 KRT1 NM_006121.3(KRT1): c.113G> A (p.Arg38His) single nucleotide variant Likely benign rs34787940 GRCh37 Chromosome 12, 53074020: 53074020

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
12.77 KRT1 KRT16 KRT17 KRT6C KRT9
2
Show member pathways
11.48 KRT1 KRT16 KRT17 KRT6C KRT9
3
Show member pathways
11.29 KRT1 KRT16 KRT17 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 extracellular exosome GO:0070062 9.43 HID1 KRT1 KRT16 KRT17 KRT6C KRT9
2 keratin filament GO:0045095 9.16 KRT1 KRT6C
3 intermediate filament GO:0005882 9.02 KRT1 KRT16 KRT17 KRT6C KRT9

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.35 KRT1 KRT16 KRT17 KRT6C KRT9
2 epidermis development GO:0008544 9.33 KRT16 KRT17 KRT9
3 intermediate filament cytoskeleton organization GO:0045104 9.32 KRT16 KRT6C
4 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
5 cornification GO:0070268 9.02 KRT1 KRT16 KRT17 KRT6C KRT9

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT17 KRT9
2 structural molecule activity GO:0005198 8.92 KRT1 KRT16 KRT17 KRT6C

Sources for Palmoplantar Keratoderma, Nonepidermolytic

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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