FNEPPK2
MCID: PLM142
MIFTS: 16

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 (FNEPPK2)

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 58 30 6
Fneppk2 58 76
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 2 41
Palmoplantar Keratoderma, Non-Epidermolytic, Focal 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
palmoplantar keratoderma, nonepidermolytic, focal 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616400
MeSH 45 D007645

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962
2 palmoplantar keratoderma 33 HP:0000982

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
elongation of rete ridges
thickened stratum spinosum layer
reduced stratum granulosum layer
disadhesion of cells in suprabasal layers
more
Skin Nails Hair Skin:
palmoplantar keratoderma, focal

Clinical features from OMIM:

616400

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 30 TRPV3

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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

42
Skin

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Articles related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

# Title Authors Year
1
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. ( 25285920 )
2015

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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