FNEPPK2
MCID: PLM142
MIFTS: 25

Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 (FNEPPK2)

Categories: Genetic diseases, Rare 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 12 72
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 2 39
Palmoplantar Keratoderma, Non-Epidermolytic, Focal 2 72
Focal Nonepidermolytic Palmoplantar Keratoderma 2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
palmoplantar keratoderma, nonepidermolytic, focal 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111711
OMIM® 57 616400
MeSH 44 D007645

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

UniProtKB/Swiss-Prot : 72 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, also known as fneppk2, is related to olmsted syndrome 1 and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Related phenotypes are hyperkeratosis and palmoplantar keratoderma

Disease Ontology : 12 A focal nonepidermolytic palmoplantar keratoderma that has material basis in heterozygous mutation in TRPV3 on chromosome 17p13.2.

More information 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

Diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 olmsted syndrome 1 9.6 TRPV3 SPATA22
2 palmoplantar keratoderma, nonepidermolytic 9.6 TRPV3 SPATA22
3 developmental and epileptic encephalopathy 24 9.5 TRPV3 SPATA22

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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

31
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 palmoplantar keratoderma 31 HP:0000982

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt pathway GR00057-A-1 8.62 SPATA22 TRPV3

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

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

Articles related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 2:

# Title Authors PMID Year
1
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. 6 57
25285920 2015

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 2

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

6 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV3 NM_145068.4(TRPV3):c.1739A>C (p.Gln580Pro) SNV Pathogenic 192257 rs786205869 GRCh37: 17:3427496-3427496
GRCh38: 17:3524202-3524202
2 TRPV3 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) SNV Likely pathogenic 192256 rs786205868 GRCh37: 17:3421938-3421938
GRCh38: 17:3518644-3518644
3 TRPV3 NM_145068.3(TRPV3):c.-279T>C SNV Uncertain significance 322812 rs552876200 GRCh37: 17:3461246-3461246
GRCh38: 17:3557952-3557952
4 TRPV3 NM_145068.3(TRPV3):c.-220G>A SNV Uncertain significance 322807 rs773689429 GRCh37: 17:3461187-3461187
GRCh38: 17:3557893-3557893
5 TRPV3 NC_000017.11:g.3557984T>A SNV Uncertain significance 889007 GRCh37: 17:3461278-3461278
GRCh38: 17:3557984-3557984
6 TRPV3 , SPATA22 NM_001321336.2(SPATA22):c.-74+2923A>T SNV Uncertain significance 892078 GRCh37: 17:3413783-3413783
GRCh38: 17:3510489-3510489
7 TRPV3 NC_000017.11:g.3558000A>C SNV Uncertain significance 889008 GRCh37: 17:3461294-3461294
GRCh38: 17:3558000-3558000
8 TRPV3 NM_145068.3(TRPV3):c.-245G>A SNV Uncertain significance 322810 rs886052859 GRCh37: 17:3461212-3461212
GRCh38: 17:3557918-3557918
9 TRPV3 NM_145068.3(TRPV3):c.-313C>T SNV Uncertain significance 322813 rs540741805 GRCh37: 17:3461280-3461280
GRCh38: 17:3557986-3557986
10 TRPV3 NM_145068.3(TRPV3):c.-177C>T SNV Uncertain significance 322805 rs886052858 GRCh37: 17:3461144-3461144
GRCh38: 17:3557850-3557850
11 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*74G>C SNV Uncertain significance 322744 rs886052854 GRCh37: 17:3417137-3417137
GRCh38: 17:3513843-3513843
12 TRPV3 NM_145068.3(TRPV3):c.-318A>G SNV Uncertain significance 322814 rs112731342 GRCh37: 17:3461285-3461285
GRCh38: 17:3557991-3557991
13 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2757C>T SNV Uncertain significance 890323 GRCh37: 17:3414454-3414454
GRCh38: 17:3511160-3511160
14 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2702A>G SNV Uncertain significance 890324 GRCh37: 17:3414509-3414509
GRCh38: 17:3511215-3511215
15 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2054A>C SNV Uncertain significance 890380 GRCh37: 17:3415157-3415157
GRCh38: 17:3511863-3511863
16 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1968A>G SNV Uncertain significance 890381 GRCh37: 17:3415243-3415243
GRCh38: 17:3511949-3511949
17 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1105T>C SNV Uncertain significance 890434 GRCh37: 17:3416106-3416106
GRCh38: 17:3512812-3512812
18 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1043T>C SNV Uncertain significance 890435 GRCh37: 17:3416168-3416168
GRCh38: 17:3512874-3512874
19 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1843C>T SNV Uncertain significance 890937 GRCh37: 17:3415368-3415368
GRCh38: 17:3512074-3512074
20 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1767T>C SNV Uncertain significance 890938 GRCh37: 17:3415444-3415444
GRCh38: 17:3512150-3512150
21 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*552C>A SNV Uncertain significance 891005 GRCh37: 17:3416659-3416659
GRCh38: 17:3513365-3513365
22 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2432C>T SNV Uncertain significance 892122 GRCh37: 17:3414779-3414779
GRCh38: 17:3511485-3511485
23 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2391C>T SNV Uncertain significance 892123 GRCh37: 17:3414820-3414820
GRCh38: 17:3511526-3511526
24 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1500C>T SNV Uncertain significance 892171 GRCh37: 17:3415711-3415711
GRCh38: 17:3512417-3512417
25 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1380T>C SNV Uncertain significance 892172 GRCh37: 17:3415831-3415831
GRCh38: 17:3512537-3512537
26 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*276C>T SNV Uncertain significance 892229 GRCh37: 17:3416935-3416935
GRCh38: 17:3513641-3513641
27 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*207T>C SNV Uncertain significance 892230 GRCh37: 17:3417004-3417004
GRCh38: 17:3513710-3513710
28 TRPV3 NM_145068.4(TRPV3):c.1810+1G>A SNV Uncertain significance 322761 rs773523427 GRCh37: 17:3424266-3424266
GRCh38: 17:3520972-3520972
29 TRPV3 NM_145068.4(TRPV3):c.1243-4C>T SNV Uncertain significance 322773 rs886052856 GRCh37: 17:3432293-3432293
GRCh38: 17:3528999-3528999
30 TRPV3 NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) SNV Uncertain significance 322802 rs886052857 GRCh37: 17:3458139-3458139
GRCh38: 17:3554845-3554845
31 TRPV3 NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) SNV Uncertain significance 322791 rs760726969 GRCh37: 17:3446792-3446792
GRCh38: 17:3543498-3543498
32 TRPV3 NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) SNV Uncertain significance 322757 rs886052855 GRCh37: 17:3421944-3421944
GRCh38: 17:3518650-3518650
33 TRPV3 NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) SNV Uncertain significance 322763 rs746336365 GRCh37: 17:3427576-3427576
GRCh38: 17:3524282-3524282
34 TRPV3 NM_145068.4(TRPV3):c.1066-5C>G SNV Uncertain significance 322778 rs778105648 GRCh37: 17:3433502-3433502
GRCh38: 17:3530208-3530208
35 TRPV3 NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) SNV Uncertain significance 322801 rs779977306 GRCh37: 17:3458125-3458125
GRCh38: 17:3554831-3554831
36 TRPV3 NM_145068.4(TRPV3):c.*49C>T SNV Uncertain significance 888810 GRCh37: 17:3417162-3417162
GRCh38: 17:3513868-3513868
37 TRPV3 NM_145068.4(TRPV3):c.1487G>A (p.Cys496Tyr) SNV Uncertain significance 888889 GRCh37: 17:3431335-3431335
GRCh38: 17:3528041-3528041
38 TRPV3 NM_145068.4(TRPV3):c.276T>C (p.Asp92=) SNV Uncertain significance 889632 GRCh37: 17:3447908-3447908
GRCh38: 17:3544614-3544614
39 TRPV3 NM_145068.4(TRPV3):c.2278+3A>C SNV Uncertain significance 890509 GRCh37: 17:3417884-3417884
GRCh38: 17:3514590-3514590
40 TRPV3 NM_145068.4(TRPV3):c.2245C>G (p.Leu749Val) SNV Uncertain significance 890510 GRCh37: 17:3417920-3417920
GRCh38: 17:3514626-3514626
41 TRPV3 NM_145068.4(TRPV3):c.2197C>T (p.Arg733Trp) SNV Uncertain significance 890512 GRCh37: 17:3419752-3419752
GRCh38: 17:3516458-3516458
42 TRPV3 NM_145068.4(TRPV3):c.2050G>A (p.Val684Ile) SNV Uncertain significance 890516 GRCh37: 17:3421905-3421905
GRCh38: 17:3518611-3518611
43 TRPV3 NM_145068.4(TRPV3):c.1700G>A (p.Arg567Gln) SNV Uncertain significance 892290 GRCh37: 17:3427535-3427535
GRCh38: 17:3524241-3524241
44 TRPV3 NM_145068.4(TRPV3):c.682G>C (p.Gly228Arg) SNV Uncertain significance 892345 GRCh37: 17:3438969-3438969
GRCh38: 17:3535675-3535675
45 TRPV3 NM_145068.4(TRPV3):c.671A>G (p.Glu224Gly) SNV Uncertain significance 892346 GRCh37: 17:3438980-3438980
GRCh38: 17:3535686-3535686
46 TRPV3 NM_145068.4(TRPV3):c.619G>A (p.Glu207Lys) SNV Uncertain significance 892348 GRCh37: 17:3445840-3445840
GRCh38: 17:3542546-3542546
47 TRPV3 NM_145068.4(TRPV3):c.1971G>A (p.Leu657=) SNV Uncertain significance 740462 rs749226142 GRCh37: 17:3421984-3421984
GRCh38: 17:3518690-3518690
48 TRPV3 NM_145068.4(TRPV3):c.1401+9G>T SNV Uncertain significance 322771 rs550564945 GRCh37: 17:3432122-3432122
GRCh38: 17:3528828-3528828
49 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*837A>G SNV Uncertain significance 322733 rs758698680 GRCh37: 17:3416374-3416374
GRCh38: 17:3513080-3513080
50 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2490T>C SNV Uncertain significance 322691 rs886052842 GRCh37: 17:3414721-3414721
GRCh38: 17:3511427-3511427

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

72
# Symbol AA change Variation ID SNP ID
1 TRPV3 p.Gln580Pro VAR_073832 rs786205869

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
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19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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