FNEPPK1
MCID: PLM174
MIFTS: 40

Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 (FNEPPK1)

Categories: Genetic diseases, Rare 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
Focal Nonepidermolytic Palmoplantar Keratoderma 57 12 72 36 15
Palmoplantar Keratoderma, Nonepidermolytic, Focal 57 29 13 6
Fneppk1 57 12 72
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 44 70
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma 12 58
Keratoderma, Focal Nonepidermolytic Palmoplantar 57 72
Ppkfne 57 72
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1 39
Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1 72
Focal Nonepidermolytic Palmoplantar Keratoderma 1 12
Fneppk 12

Characteristics:

Orphanet epidemiological data:

58
isolated focal non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

OMIM®:

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


HPO:

31
palmoplantar keratoderma, nonepidermolytic, focal 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111708 DOID:0111709
OMIM® 57 613000
KEGG 36 H02263
Orphanet 58 ORPHA448264
SNOMED-CT via HPO 68 263681008 706885006
UMLS 70 C2931923

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

KEGG : 36 Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful. It has been reported that mutations in keratin 16 (KRT16) and TRPV3 gene cause FNEPPK. Both of them are inherited in an autosomal dominant manner.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, Focal 1, also known as focal nonepidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, nonepidermolytic, focal or diffuse and palmoplantar keratoderma, epidermolytic. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 is KRT16 (Keratin 16), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Related phenotypes are palmoplantar keratoderma and keratosis pilaris

Disease Ontology : 12 A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.

UniProtKB/Swiss-Prot : 72 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.

More information 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:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 32.4 KRT6C KRT6B KRT6A KRT16
2 palmoplantar keratoderma, epidermolytic 28.9 KRT9 KRT6B KRT6A KRT2 KRT16 EVPL
3 palmoplantar keratosis 28.5 SLURP1 RHBDF2 KRT9 KRT6B KRT6A KRT16
4 palmoplantar keratoderma, nonepidermolytic, focal 2 11.7
5 palmoplantar keratoderma, bothnian type 10.9
6 pachyonychia congenita 2 10.1 KRT6B KRT16
7 fissured tongue 10.1 KRT6A KRT16
8 angular cheilitis 10.1 KRT6B KRT6A
9 eccrine papillary adenoma 10.0 KRT9 KRT16
10 median rhomboid glossitis 10.0 KRT6B KRT6A KRT16
11 glossitis 10.0 KRT6B KRT6A KRT16
12 epidermolytic acanthoma 10.0 KRT9 KRT2
13 white sponge nevus 1 9.9 KRT6B KRT6A KRT2
14 osteogenesis imperfecta, type iv 9.9 LCE1B KRT2
15 keratosis 9.8 SLURP1 KRT9 KRT16
16 nevus, epidermal 9.8 KRT2 KRT16
17 steatocystoma multiplex 9.8 KRT6B KRT6A KRT2 KRT16
18 monilethrix 9.8 KRT6B KRT6A KRT2 KRT16
19 focal palmoplantar keratoderma 9.8 TRPV3 KRT6C KRT6B KRT6A KRT16
20 diffuse palmoplantar keratoderma 9.7 RHBDF2 KRT9 KRT6C
21 autosomal recessive congenital ichthyosis 9.6 KRT6C KRT6B KRT6A KRT2 KRT16
22 epidermolytic hyperkeratosis 9.6 KRT9 KRT6B KRT6A KRT2 KRT16
23 mutilating palmoplantar keratoderma with periorificial keratotic plaques 9.6 TRPV3 SLURP1 RHBDF2
24 skin disease 9.5 SLURP1 KRT9 KRT6A KRT16
25 palmoplantar keratoderma, nonepidermolytic 9.3 TRPV3 RHBDF2 KRT9 KRT6C KRT6A KRT16
26 pachyonychia congenita 1 9.0 RHBDF2 KRT9 KRT6C KRT6B KRT6A KRT2

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1:



Diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

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

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 keratosis pilaris 31 HP:0032152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis of stratum corneum
no cytolysis or abnormal keratohyalin granules

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 Nails:
splinter hemorrhages
wide onychocorenal band

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 (arms and legs)

Clinical features from OMIM®:

613000 (Updated 05-Apr-2021)

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.66 KRT6A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 TRPV3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 KRT6A KRT6C TRPV3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 KRT6A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.66 TRPV3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 TRPV3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 TRPV3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.66 KRT6A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 TRPV3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.66 KRT6A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 KRT6C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.66 TRPV3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.66 TRPV3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.66 TRPV3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.66 KRT6A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.66 KRT6C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.66 KRT6A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.66 KRT6A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 TRPV3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.66 KRT6A

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

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

Cochrane evidence based reviews: hyperkeratosis of the palms and soles and esophageal papillomas

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:

(show all 12)
# Title Authors PMID Year
1
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 57 6
10839714 2000
2
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. 57 6
8595410 1995
3
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. 6
25285920 2015
4
Keratin K6c mutations cause focal palmoplantar keratoderma. 6
19609311 2010
5
The genetic basis of pachyonychia congenita. 6
16250206 2005
6
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 57
7544664 1995
7
Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association? 61
15606835 2004
8
Novel keratin 17 mutations in pachyonychia congenita type 2. 61
11348474 2001
9
Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle. 61
11281415 2001
10
Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers. 61
11281419 2001
11
Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25. 61
10409435 1999
12
Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer. 61
9609757 1998

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

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

6 (show top 50) (show all 201)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT16 NM_005557.4(KRT16):c.1244_1270delinsGGC (p.Ala415_Glu424delinsGlyGln) Indel Pathogenic 14610 rs1555573633 GRCh37: 17:39766593-39766619
GRCh38: 17:41610341-41610367
2 KRT6C NM_173086.5(KRT6C):c.510_512CAA[2] (p.Asn172del) Microsatellite Pathogenic 126525 rs267607474 GRCh37: 12:52867004-52867006
GRCh38: 12:52473220-52473222
3 KRT6C NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) Deletion Pathogenic 66966 rs267607475 GRCh37: 12:52863468-52863494
GRCh38: 12:52469684-52469710
4 KRT16 NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) SNV Pathogenic 14601 rs59856285 GRCh37: 17:39768562-39768562
GRCh38: 17:41612310-41612310
5 KRT16 NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) SNV Pathogenic 14602 rs60723330 GRCh37: 17:39768567-39768567
GRCh38: 17:41612315-41612315
6 TRPV3 NM_145068.4(TRPV3):c.1739A>C (p.Gln580Pro) SNV Pathogenic 192257 rs786205869 GRCh37: 17:3427496-3427496
GRCh38: 17:3524202-3524202
7 KRT16 NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) SNV Pathogenic 14602 rs60723330 GRCh37: 17:39768567-39768567
GRCh38: 17:41612315-41612315
8 TRPV3 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) SNV Likely pathogenic 192256 rs786205868 GRCh37: 17:3421938-3421938
GRCh38: 17:3518644-3518644
9 TRPV3 NM_145068.3(TRPV3):c.-279T>C SNV Uncertain significance 322812 rs552876200 GRCh37: 17:3461246-3461246
GRCh38: 17:3557952-3557952
10 TRPV3 NM_145068.3(TRPV3):c.-220G>A SNV Uncertain significance 322807 rs773689429 GRCh37: 17:3461187-3461187
GRCh38: 17:3557893-3557893
11 TRPV3 NC_000017.11:g.3557984T>A SNV Uncertain significance 889007 GRCh37: 17:3461278-3461278
GRCh38: 17:3557984-3557984
12 TRPV3 , SPATA22 NM_001321336.2(SPATA22):c.-74+2923A>T SNV Uncertain significance 892078 GRCh37: 17:3413783-3413783
GRCh38: 17:3510489-3510489
13 TRPV3 NC_000017.11:g.3558000A>C SNV Uncertain significance 889008 GRCh37: 17:3461294-3461294
GRCh38: 17:3558000-3558000
14 TRPV3 NM_145068.3(TRPV3):c.-245G>A SNV Uncertain significance 322810 rs886052859 GRCh37: 17:3461212-3461212
GRCh38: 17:3557918-3557918
15 TRPV3 NM_145068.3(TRPV3):c.-313C>T SNV Uncertain significance 322813 rs540741805 GRCh37: 17:3461280-3461280
GRCh38: 17:3557986-3557986
16 TRPV3 NM_145068.3(TRPV3):c.-177C>T SNV Uncertain significance 322805 rs886052858 GRCh37: 17:3461144-3461144
GRCh38: 17:3557850-3557850
17 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*74G>C SNV Uncertain significance 322744 rs886052854 GRCh37: 17:3417137-3417137
GRCh38: 17:3513843-3513843
18 TRPV3 NM_145068.3(TRPV3):c.-318A>G SNV Uncertain significance 322814 rs112731342 GRCh37: 17:3461285-3461285
GRCh38: 17:3557991-3557991
19 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2757C>T SNV Uncertain significance 890323 GRCh37: 17:3414454-3414454
GRCh38: 17:3511160-3511160
20 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2702A>G SNV Uncertain significance 890324 GRCh37: 17:3414509-3414509
GRCh38: 17:3511215-3511215
21 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2054A>C SNV Uncertain significance 890380 GRCh37: 17:3415157-3415157
GRCh38: 17:3511863-3511863
22 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1968A>G SNV Uncertain significance 890381 GRCh37: 17:3415243-3415243
GRCh38: 17:3511949-3511949
23 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1105T>C SNV Uncertain significance 890434 GRCh37: 17:3416106-3416106
GRCh38: 17:3512812-3512812
24 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1043T>C SNV Uncertain significance 890435 GRCh37: 17:3416168-3416168
GRCh38: 17:3512874-3512874
25 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1843C>T SNV Uncertain significance 890937 GRCh37: 17:3415368-3415368
GRCh38: 17:3512074-3512074
26 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1767T>C SNV Uncertain significance 890938 GRCh37: 17:3415444-3415444
GRCh38: 17:3512150-3512150
27 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*552C>A SNV Uncertain significance 891005 GRCh37: 17:3416659-3416659
GRCh38: 17:3513365-3513365
28 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2432C>T SNV Uncertain significance 892122 GRCh37: 17:3414779-3414779
GRCh38: 17:3511485-3511485
29 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*2391C>T SNV Uncertain significance 892123 GRCh37: 17:3414820-3414820
GRCh38: 17:3511526-3511526
30 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1500C>T SNV Uncertain significance 892171 GRCh37: 17:3415711-3415711
GRCh38: 17:3512417-3512417
31 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1380T>C SNV Uncertain significance 892172 GRCh37: 17:3415831-3415831
GRCh38: 17:3512537-3512537
32 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*276C>T SNV Uncertain significance 892229 GRCh37: 17:3416935-3416935
GRCh38: 17:3513641-3513641
33 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*207T>C SNV Uncertain significance 892230 GRCh37: 17:3417004-3417004
GRCh38: 17:3513710-3513710
34 KRT16 NM_005557.4(KRT16):c.1373T>C (p.Ile458Thr) SNV Uncertain significance 1029979 GRCh37: 17:39766236-39766236
GRCh38: 17:41609984-41609984
35 TRPV3 NM_145068.4(TRPV3):c.1810+1G>A SNV Uncertain significance 322761 rs773523427 GRCh37: 17:3424266-3424266
GRCh38: 17:3520972-3520972
36 TRPV3 NM_145068.4(TRPV3):c.1243-4C>T SNV Uncertain significance 322773 rs886052856 GRCh37: 17:3432293-3432293
GRCh38: 17:3528999-3528999
37 TRPV3 NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) SNV Uncertain significance 322802 rs886052857 GRCh37: 17:3458139-3458139
GRCh38: 17:3554845-3554845
38 TRPV3 NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) SNV Uncertain significance 322791 rs760726969 GRCh37: 17:3446792-3446792
GRCh38: 17:3543498-3543498
39 TRPV3 NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) SNV Uncertain significance 322757 rs886052855 GRCh37: 17:3421944-3421944
GRCh38: 17:3518650-3518650
40 TRPV3 NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) SNV Uncertain significance 322763 rs746336365 GRCh37: 17:3427576-3427576
GRCh38: 17:3524282-3524282
41 TRPV3 NM_145068.4(TRPV3):c.1066-5C>G SNV Uncertain significance 322778 rs778105648 GRCh37: 17:3433502-3433502
GRCh38: 17:3530208-3530208
42 TRPV3 NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) SNV Uncertain significance 322801 rs779977306 GRCh37: 17:3458125-3458125
GRCh38: 17:3554831-3554831
43 TRPV3 NM_145068.4(TRPV3):c.*49C>T SNV Uncertain significance 888810 GRCh37: 17:3417162-3417162
GRCh38: 17:3513868-3513868
44 TRPV3 NM_145068.4(TRPV3):c.1487G>A (p.Cys496Tyr) SNV Uncertain significance 888889 GRCh37: 17:3431335-3431335
GRCh38: 17:3528041-3528041
45 TRPV3 NM_145068.4(TRPV3):c.276T>C (p.Asp92=) SNV Uncertain significance 889632 GRCh37: 17:3447908-3447908
GRCh38: 17:3544614-3544614
46 TRPV3 NM_145068.4(TRPV3):c.2278+3A>C SNV Uncertain significance 890509 GRCh37: 17:3417884-3417884
GRCh38: 17:3514590-3514590
47 TRPV3 NM_145068.4(TRPV3):c.2245C>G (p.Leu749Val) SNV Uncertain significance 890510 GRCh37: 17:3417920-3417920
GRCh38: 17:3514626-3514626
48 TRPV3 NM_145068.4(TRPV3):c.2197C>T (p.Arg733Trp) SNV Uncertain significance 890512 GRCh37: 17:3419752-3419752
GRCh38: 17:3516458-3516458
49 TRPV3 NM_145068.4(TRPV3):c.2050G>A (p.Val684Ile) SNV Uncertain significance 890516 GRCh37: 17:3421905-3421905
GRCh38: 17:3518611-3518611
50 TRPV3 NM_145068.4(TRPV3):c.1700G>A (p.Arg567Gln) SNV Uncertain significance 892290 GRCh37: 17:3427535-3427535
GRCh38: 17:3524241-3524241

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

72
# Symbol AA change Variation ID SNP ID
1 KRT16 p.Asn125Ser VAR_009183 rs60723330
2 KRT16 p.Arg127Cys VAR_009184 rs59856285

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
13.02 SPRR2G LCE1B KRT9 KRT6C KRT6B KRT6A
2 11.92 KRT6C KRT6B KRT6A
3
Show member pathways
11.73 SPRR2G LCE1B KRT9 KRT6C KRT6B KRT6A
4
Show member pathways
11.39 KRT6C KRT6A KRT2 KRT16 EVPL

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 cytosol GO:0005829 9.97 SPRR2G KRT9 KRT6C KRT6B KRT6A KRT2
2 extracellular exosome GO:0070062 9.61 SLURP1 KRT9 KRT6C KRT6B KRT6A KRT2
3 keratin filament GO:0045095 9.46 KRT6C KRT6B KRT6A KRT2
4 cornified envelope GO:0001533 9.43 SPRR2G KRT2 EVPL
5 intermediate filament GO:0005882 9.17 KRT9 KRT6C KRT6B KRT6A KRT2 KRT16

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.63 KRT6B KRT6A KRT16
2 cornification GO:0070268 9.56 SPRR2G KRT9 KRT6C KRT6B KRT6A KRT2
3 epidermis development GO:0008544 9.55 SPRR2G LCE1B KRT9 KRT2 EVPL
4 keratinocyte differentiation GO:0030216 9.54 SPRR2G KRT16 EVPL
5 peptide cross-linking GO:0018149 9.48 KRT2 EVPL
6 morphogenesis of an epithelium GO:0002009 9.43 KRT6A KRT16
7 intermediate filament cytoskeleton organization GO:0045104 9.43 KRT6C KRT16 EVPL
8 intermediate filament organization GO:0045109 9.4 KRT9 KRT2
9 keratinocyte migration GO:0051546 9.32 KRT2 KRT16
10 keratinization GO:0031424 9.28 SPRR2G LCE1B KRT9 KRT6C KRT6B KRT6A

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 9.13 KRT9 KRT16 EVPL
2 structural constituent of cytoskeleton GO:0005200 9.02 KRT9 KRT6B KRT6A KRT2 KRT16

Sources for Palmoplantar Keratoderma, Nonepidermolytic, Focal 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....