MCID: PLM174
MIFTS: 26

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

Name: Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 57
Palmoplantar Keratoderma, Nonepidermolytic, Focal 57 29 13 6
Keratoderma, Focal Nonepidermolytic Palmoplantar 57 75
Focal Nonepidermolytic Palmoplantar Keratoderma 57 75
Fneppk1 57 75
Ppkfne 57 75
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 73
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1 40
Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, nonepidermolytic, focal 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613000
MeSH 44 D007645
SNOMED-CT via HPO 69 263681008 706885006
UMLS 73 C2931923

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

UniProtKB/Swiss-Prot : 75 Keratoderma, palmoplantar, non-epidermolytic, focal 1: A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, Focal 1, also known as palmoplantar keratoderma, nonepidermolytic, focal, is related to palmoplantar keratoderma, nonepidermolytic and palmoplantar keratoderma, nonepidermolytic, focal or diffuse. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Keratinization and Cytoskeleton remodeling Neurofilaments. Related phenotypes are palmoplantar keratoderma and Negative genetic interaction between BLM-/- and BLM+/+

Description from OMIM: 613000

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Diseases in the Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 family:

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic 28.8 KRT16 KRT6C
2 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.5
3 palmoplantar keratoderma, nonepidermolytic, focal 2 12.4
4 palmoplantar keratosis 10.2

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
whitish opalescence of hard palate
whitish opalescence of buccal mucosa

Skin Nails Hair Skin:
large hard compact painful masses of keratin at sites of recurrent friction on palms and soles
keratosis pilaris of arms and legs

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

Genitourinary External Genitalia Male:
whitish opalescence of glans penis in circumcised males

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

Skin Nails Hair Nails:
widened onychocorenal band
splinter hemorrhages


Clinical features from OMIM:

613000

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.62 KRT16 KRT6C

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 29 KRT16

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Articles related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

# Title Authors Year
1
Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. ( 8595410 )
1995

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

75
# Symbol AA change Variation ID SNP ID
1 KRT16 p.Asn125Ser VAR_009183 rs60723330
2 KRT16 p.Arg127Cys VAR_009184 rs59856285

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT16 NM_005557.3(KRT16): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic rs59856285 GRCh37 Chromosome 17, 39768562: 39768562
2 KRT16 NM_005557.3(KRT16): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic rs59856285 GRCh38 Chromosome 17, 41612310: 41612310
3 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh37 Chromosome 17, 39768567: 39768567
4 KRT16 NM_005557.3(KRT16): c.374A> G (p.Asn125Ser) single nucleotide variant Pathogenic rs60723330 GRCh38 Chromosome 17, 41612315: 41612315
5 KRT16 NM_005557.3(KRT16): c.1244_1270del27insGGC (p.Ala415_Glu424delinsGlyGln) indel Pathogenic rs1135402724 GRCh37 Chromosome 17, 39766593: 39766619
6 KRT16 NM_005557.3(KRT16): c.1244_1270del27insGGC (p.Ala415_Glu424delinsGlyGln) indel Pathogenic rs1135402724 GRCh38 Chromosome 17, 41610341: 41610367
7 KRT6C NM_173086.4(KRT6C): c.1384_1410del27 (p.Ile462_Glu470del) deletion Pathogenic rs267607475 GRCh37 Chromosome 12, 52863468: 52863494
8 KRT6C NM_173086.4(KRT6C): c.1384_1410del27 (p.Ile462_Glu470del) deletion Pathogenic rs267607475 GRCh38 Chromosome 12, 52469684: 52469710
9 KRT6C NM_173086.4(KRT6C): c.516_518delCAA (p.Asn172del) deletion Pathogenic rs267607474 GRCh37 Chromosome 12, 52867004: 52867006
10 KRT6C NM_173086.4(KRT6C): c.516_518delCAA (p.Asn172del) deletion Pathogenic rs267607474 GRCh38 Chromosome 12, 52473220: 52473222

Expression for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1.

Pathways for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Pathways related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 KRT16 KRT6C
2
Show member pathways
10.66 KRT16 KRT6C

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Cellular components related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.62 KRT16 KRT6C

Biological processes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.16 KRT16 KRT6C
2 cornification GO:0070268 8.96 KRT16 KRT6C
3 intermediate filament cytoskeleton organization GO:0045104 8.62 KRT16 KRT6C

Molecular functions related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 KRT16 KRT6C

Sources for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

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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