MCID: PLM131
MIFTS: 17

Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

Name: Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 57 29 6 73
Ppknefd 57 75
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma with Plantar Blistering 59
Palmoplantar Keratoderma, Non-Epidermolytic, Focal or Diffuse 75
Keratoderma, Palmoplantar, Nonepidermolytic, Focal or Diffuse 40
Nonepidermolytic Focal or Diffuse Palmoplantar Keratoderma 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients have only plantar surface involvement


HPO:

32
palmoplantar keratoderma, nonepidermolytic, focal or diffuse:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 615735
Orphanet 59 ORPHA402003
ICD10 via Orphanet 34 Q82.8
MeSH 44 D007645
SNOMED-CT via HPO 69 263681008 706885006
UMLS 73 C3810394

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

UniProtKB/Swiss-Prot : 75 Palmoplantar keratoderma, non-epidermolytic, focal or diffuse: A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse, is also known as ppknefd. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse is KRT6C (Keratin 6C). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and epidermal acanthosis

Description from OMIM: 615735

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
mild leukokeratosis of buccal bite line (in some patients)

Skin Nails Hair Skin Histology:
nonepidermolytic orthohyperkeratosis
acanthosis

Skin Nails Hair Skin:
palmoplantar keratoderma, focal
palmoplantar keratoderma, diffuse (in some patients)
plantar blistering
hyperhidrosis of plantar surface (in some patients)
clavus formation (rare)

Skin Nails Hair Nails:
hypertrophic nail changes, mild (in some patients)
splinter hemorrhages of nails (in some patients)


Clinical features from OMIM:

615735

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 epidermal acanthosis 32 HP:0025092

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 29 KRT6C

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

41
Skin

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

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

75
# Symbol AA change Variation ID SNP ID
1 KRT6C p.Glu472Lys VAR_071309 rs587777292

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT6C NM_173086.4(KRT6C): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs587777292 GRCh37 Chromosome 12, 52863464: 52863464
2 KRT6C NM_173086.4(KRT6C): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs587777292 GRCh38 Chromosome 12, 52469680: 52469680

Expression for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

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

Pathways for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Sources for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

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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