MCID: PLM142
MIFTS: 16

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

Name: Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 57 29 6
Fneppk2 57 75
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 2 40
Palmoplantar Keratoderma, Non-Epidermolytic, Focal 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of a chinese father and son (last curated may 2015)


HPO:

32
palmoplantar keratoderma, nonepidermolytic, focal 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616400
MeSH 44 D007645

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

UniProtKB/Swiss-Prot : 75 Palmoplantar keratoderma, non-epidermolytic, focal 2: A dermatological disorder characterized by non-epidermolytic, abnormal thickening of the skin on the palms and soles. Focal palmoplantar keratoderma consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, Focal 2, is also known as fneppk2. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and palmoplantar keratoderma

Description from OMIM: 616400

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
palmoplantar keratoderma, focal

Skin Nails Hair Skin Histology:
hyperkeratosis
thickened stratum spinosum layer
reduced stratum granulosum layer
disadhesion of cells in suprabasal layers
elongation of rete ridges
more

Clinical features from OMIM:

616400

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 palmoplantar keratoderma 32 HP:0000982

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 29 TRPV3

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

41
Skin

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

75
# Symbol AA change Variation ID SNP ID
1 TRPV3 p.Gln580Pro VAR_073832 rs786205869

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV3 NM_145068.3(TRPV3): c.1739A> C (p.Gln580Pro) single nucleotide variant Pathogenic rs786205869 GRCh37 Chromosome 17, 3427496: 3427496
2 TRPV3 NM_145068.3(TRPV3): c.1739A> C (p.Gln580Pro) single nucleotide variant Pathogenic rs786205869 GRCh38 Chromosome 17, 3524202: 3524202

Expression for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2.

Pathways for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Sources for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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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