EPPK
MCID: PLM102
MIFTS: 55

Palmoplantar Keratoderma, Epidermolytic (EPPK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Epidermolytic:

Name: Palmoplantar Keratoderma, Epidermolytic 57 54
Epidermolytic Palmoplantar Keratoderma 12 20 58 36 29 13 6 15
Eppk 57 20 58 72
Keratosis Palmaris Et Plantaris Familiaris 57 72 70
Keratoderma, Palmoplantar, Epidermolytic 72 39 70
Keratosis of Greither 57 20 72
Tylosis 57 20 72
Epidermolytic Palmoplantar Keratoderma of Voerner 20 58
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 70
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type 58
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 20
Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type 58
Hyperkeratosis Palmoplantar Localized Epidermolytic 20
Epidermolytic Palmoplantar Keratoderma Vorner Type 70
Epidermolytic Palmoplantar Keratoderma of Vörner 20
Epidermolytic Palmoplantar Keratoderma of Vorner 58
Palmoplantar Keratoderma, Nonepidermolytic 70
Keratoderma, Epidermolytic Palmoplantar 57
Hyperkeratosis, Localized Epidermolytic 57
Unilateral Palmoplantar Verrucous Nevus 72
Localized Epidermolytic Hyperkeratosis 72
Palmoplantar Keratoderma, Vorner Type 57
Palmoplantar Keratoderma Vorner Type 72
Keratoderma, Palmoplantar, Diffuse 70
Epidermolytic Unna-Thost Disease 72
Hyperkeratosis 70
Type B Tylosis 70
Type a Tylosis 70
Ehppk 72
Ppke 57
Upvn 72

Characteristics:

OMIM®:

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


HPO:

31
palmoplantar keratoderma, epidermolytic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080223
OMIM® 57 144200
KEGG 36 H00722
MeSH 44 D053546
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0343110 C1721006 C2931735
Orphanet 58 ORPHA2199
UMLS 70 C0022584 C0870082 C1721006 more

Summaries for Palmoplantar Keratoderma, Epidermolytic

OMIM® : 57 Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). (144200) (Updated 05-Apr-2021)

MalaCards based summary : Palmoplantar Keratoderma, Epidermolytic, also known as epidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, nonepidermolytic, focal or diffuse and naxos disease. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Relaxin signaling pathway. The drugs Clotrimazole and Tavaborole have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and heart, and related phenotypes are palmoplantar keratoderma and erythema

Disease Ontology : 12 A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.

KEGG : 36 Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that present within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.

UniProtKB/Swiss-Prot : 72 Keratoderma, palmoplantar, epidermolytic: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
Unilateral palmoplantar verrucous nevus: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

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

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 31.9 KRT72 KRT6B KRT6A KRT17 KRT16
2 naxos disease 31.2 PKP1 DSP DSG4 DSG1
3 cardiomyopathy, dilated, with woolly hair and keratoderma 31.1 PKP1 DSP DSG4 DSG1
4 leukoplakia 30.3 KRT4 KRT1
5 papilloma 30.2 KRT14 KRT10 KRT1
6 epidermolytic hyperkeratosis 30.2 KRT9 KRT86 KRT6B KRT6A KRT2 KRT17
7 palmoplantar keratoderma, nonepidermolytic 30.0 PKP1 KRT9 KRT6A KRT17 KRT16 KRT1
8 diffuse palmoplantar keratoderma 29.9 KRT9 KRT1 DSP DSG1
9 psoriasis 29.9 KRT17 KRT16 KRT14 KRT10 KRT1
10 hereditary palmoplantar keratoderma 29.8 KRT9 DSG1
11 palmoplantar keratoderma, nonepidermolytic, focal 1 29.5 KRT9 KRT6B KRT6A KRT2 KRT16 EVPL
12 focal palmoplantar keratoderma 29.2 KRT6B KRT6A KRT17 KRT16 DSG1
13 ichthyosis 29.2 KRT86 KRT4 KRT2 KRT17 KRT16 KRT10
14 bullous pemphigoid 29.1 KRT14 EVPL DSP DSG1
15 ectodermal dysplasia 29.0 PKP1 KRT17 KRT16 KRT14 DSP DSG1
16 epidermolysis bullosa 29.0 PKP1 KRT17 KRT16 KRT14 KRT10 KRT1
17 familial woolly hair syndrome 28.9 PKP1 KRT86 KRT6A DSP DSG4 DSG1
18 epidermolysis bullosa simplex 28.6 PKP1 KRT4 KRT17 KRT16 KRT14 KRT10
19 skin disease 27.8 KRT9 KRT6A KRT17 KRT16 KRT14 KRT10
20 palmoplantar keratosis 27.8 SERPINB7 PKP1 KRT9 KRT6B KRT6A KRT17
21 keratosis 27.5 SERPINB7 KRT9 KRT86 KRT17 KRT16 KRT14
22 pachyonychia congenita 1 27.4 KRT9 KRT86 KRT72 KRT6B KRT6A KRT4
23 tylosis with esophageal cancer 11.7
24 palmoplantar keratoderma, bothnian type 11.4
25 ankylosing vertebral hyperostosis with tylosis 11.3
26 ichthyosis hystrix, curth-macklin type 11.2
27 papillon-lefevre syndrome 11.2
28 knuckle pads 10.6
29 esophageal cancer 10.4
30 acrokeratoderma, hereditary papulotranslucent 10.3 KRT9 KRT1
31 erythroderma, ichthyosiform, congenital reticular 10.3 KRT10 KRT1
32 bowen's disease 10.3 KRT16 KRT10
33 fissured tongue 10.3 KRT6A KRT16
34 tinea corporis 10.3 KRT17 KRT16
35 epidermoid cysts 10.3 KRT6A KRT17
36 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.3 KRT10 KRT1
37 discoid lupus erythematosus 10.3 KRT16 KRT10
38 angular cheilitis 10.3 KRT6B KRT6A
39 acanthoma 10.2 KRT17 KRT10 KRT1
40 keratinopathic ichthyosis 10.2 KRT2 KRT10 KRT1
41 ichthyosis bullosa of siemens 10.2 KRT2 KRT10 KRT1
42 pachyonychia congenita 2 10.2 KRT6B KRT17 KRT16
43 inflammatory linear verrucous epidermal nevus 10.2
44 atrial standstill 1 10.2
45 palmoplantar keratoderma, punctate type ia 10.2
46 ovarian cancer 10.2
47 hypotrichosis 8 10.2
48 white sponge nevus 2 10.2
49 palmoplantar keratoderma and woolly hair 10.2
50 helix syndrome 10.2

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Epidermolytic:



Diseases related to Palmoplantar Keratoderma, Epidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Epidermolytic

Human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
3 verrucae 58 31 hallmark (90%) Very frequent (99-80%) HP:0200043
4 localized epidermolytic hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007559
5 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
6 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
7 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
8 palmoplantar hyperkeratosis 31 HP:0000972
9 increased circulating ige level 31 HP:0003212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
localized epidermolytic hyperkeratosis
thick, waxy skin of palms and soles with well-defined erythematous border
keratosis palmaris
keratosis plantaris
hyperkeratosis on dorsal surface of fingers and toes (knuckle pads, in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
cytolysis of keratinocytes in spinous and granular layers
aggregated tonofilaments at cell surface

Skin Nails Hair Skin Histology:
thickened granular layer of epidermis
large irregularly shaped keratohyalin granules
perinuclear vacuolization of keratinocytes

Clinical features from OMIM®:

144200 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.55 KRT10 KRT2 KRT72 PKP1
2 Decreased viability GR00381-A-1 9.55 KRT86
3 Decreased viability GR00386-A-1 9.55 EVPL KRT10 KRT6B KRT9 SERPINB7
4 Decreased viability GR00402-S-2 9.55 DSG4 DSP EVPL KRT16 KRT6A KRT86

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.73 DSG1 DSG4 DSP EVPL KRT1 KRT14
2 pigmentation MP:0001186 9.02 DSG4 KRT1 KRT14 KRT17 KRT4

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

Drugs for Palmoplantar Keratoderma, Epidermolytic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
2
Tavaborole Approved, Investigational Phase 3 174671-46-6
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Anti-Infective Agents Phase 3
5 Pharmaceutical Solutions Phase 3
6 Antifungal Agents Phase 3
7 Antibodies Phase 2
8 Immunoglobulins Phase 2
9
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Vehicle-Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of AN2690 Topical Solution, 5%, vs. Solution Vehicle in the Treatment of Onychomycosis of the Toenail in Adults Completed NCT01302119 Phase 3 AN2690 Topical Solution, 5%;Solution Vehicle
2 A Randomized, Double-Blind, Vehicle-Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of AN2690 Topical Solution, 5%, vs. Solution Vehicle in the Treatment of Onychomycosis of the Toenail in Adults Completed NCT01270971 Phase 3 AN2690 Topical Solution, 5%;Solution Vehicle
3 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Completed NCT03041038 Phase 2 Secukinumab;Placebo
4 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
5 Clinical Study of the CO2RE® Laser Device for Treatment of Vulvar Lichen Sclerosus Completed NCT04148651
6 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660

Search NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

# Genetic test Affiliating Genes
1 Epidermolytic Palmoplantar Keratoderma 29 KRT1 KRT9

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

40
Skin, Breast, Heart

Publications for Palmoplantar Keratoderma, Epidermolytic

Articles related to Palmoplantar Keratoderma, Epidermolytic:

(show top 50) (show all 151)
# Title Authors PMID Year
1
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. 6 57 54 61
19106041 2009
2
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. 57 54 6 61
17074468 2007
3
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. 57 6 61 54
12838553 2003
4
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. 6 57 54 61
11286630 2001
5
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. 61 57 54 6
7511021 1994
6
Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 6 57 61
12192490 2002
7
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. 61 57 6
9856842 1998
8
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). 61 57 6
7512862 1994
9
Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. 6 61 57
1385292 1992
10
Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred. 61 57 6
2960371 1987
11
Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid. 61 57 6
152116 1978
12
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. 61 54 6
9204965 1997
13
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. 6 54 61
7532199 1995
14
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. 6 61
12072061 2002
15
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 61 57
7531539 1994
16
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. 6 61
7516304 1994
17
Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. 57 61
1751358 1991
18
Autosomal recessive epidermolytic palmoplantar keratoderma. 61 57
2145438 1990
19
Hereditary epidermolytic palmoplantar keratoderma (Vörner type). Report of a familial case and review of the literature. 57 61
2958520 1987
20
Epidermolytic variant of hereditary palmoplantar keratoderma. 61 57
3155959 1985
21
Hereditary epidermolytic palmoplantar keratoderma. 61 57
6452099 1981
22
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. 57
10844556 2000
23
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 57
8651714 1996
24
Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. 6
8647270 1996
25
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. 57
7544663 1995
26
Tylosis oesophageal cancer mapped. 57
7534553 1994
27
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. 57
7528239 1994
28
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. 6
7523529 1994
29
The hereditary palmoplantar keratoses: an updated review and classification. 57
8043399 1994
30
Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later. 57
1350396 1992
31
A family with palmoplantar epidermolytic hyperkeratosis. 6
2531643 1989
32
Epidermolytic hereditary palmoplantar keratoderma. Histologic, ultrastructural, protein-chemical, and DNA analyses in two patients. 57
2451476 1988
33
Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. 57
2935332 1985
34
Familial congenital epidermolytic hyperkeratosis confined to the palms and soles. 57
4277481 1974
35
Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles. 57
5414885 1970
36
Hypovitaminosis-A in a family with tylosis and clinodactyly. 57
13683208 1961
37
Tylosis palmaris et plantaris familiaris associated with clinodactyly. 57
13756898 1961
38
[Keratosis extremitatum hereditaria progrediens with genetic dominant]. 57
14945735 1952
39
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. 61 54
19223272 2009
40
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. 61 54
18573708 2008
41
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. 54 61
18477167 2008
42
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. 54 61
16911293 2006
43
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. 61 54
16439967 2006
44
[PCR products with heterozygous mutations containing two types of heteroduplexes]. 54 61
16216052 2005
45
An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma. 61 54
15840121 2005
46
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. 61 54
15214894 2004
47
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. 54 61
15099359 2004
48
Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma. 54 61
12926810 2003
49
The molecular genetics of keratin disorders. 54 61
12688839 2003
50
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene. 54 61
10844507 2000

Variations for Palmoplantar Keratoderma, Epidermolytic

ClinVar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT9 NM_000226.4(KRT9):c.478C>T (p.Leu160Phe) SNV Pathogenic 3008 rs28940896 GRCh37: 17:39727767-39727767
GRCh38: 17:41571515-41571515
2 KRT9 NM_000226.4(KRT9):c.482A>T (p.Asn161Ile) SNV Pathogenic 3009 rs56707768 GRCh37: 17:39727763-39727763
GRCh38: 17:41571511-41571511
3 KRT9 NM_000226.4(KRT9):c.515A>C (p.Gln172Pro) SNV Pathogenic 2998 rs59878153 GRCh37: 17:39727730-39727730
GRCh38: 17:41571478-41571478
4 KRT9 NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr) SNV Pathogenic 2999 rs59296273 GRCh37: 17:39727764-39727764
GRCh38: 17:41571512-41571512
5 KRT9 NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) SNV Pathogenic 3000 rs57536312 GRCh37: 17:39727762-39727762
GRCh38: 17:41571510-41571510
6 KRT9 NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) SNV Pathogenic 3001 rs57758262 GRCh37: 17:39727757-39727757
GRCh38: 17:41571505-41571505
7 KRT9 NM_000226.4(KRT9):c.503T>C (p.Leu168Ser) SNV Pathogenic 3004 rs61157095 GRCh37: 17:39727742-39727742
GRCh38: 17:41571490-41571490
8 KRT9 NM_000226.4(KRT9):c.478C>G (p.Leu160Val) SNV Pathogenic 3005 rs28940896 GRCh37: 17:39727767-39727767
GRCh38: 17:41571515-41571515
9 KRT9 NM_000226.4(KRT9):c.470T>C (p.Met157Thr) SNV Pathogenic 3006 rs59510579 GRCh37: 17:39727775-39727775
GRCh38: 17:41571523-41571523
10 KRT9 NM_000226.4(KRT9):c.511G>A (p.Val171Met) SNV Pathogenic 3007 rs57019720 GRCh37: 17:39727734-39727734
GRCh38: 17:41571482-41571482
11 KRT1 KRT1, IVS6, G-A, +1 SNV Pathogenic 15920 GRCh37:
GRCh38:
12 KRT9 NM_000226.4(KRT9):c.469A>G (p.Met157Val) SNV Pathogenic 3002 rs58597584 GRCh37: 17:39727776-39727776
GRCh38: 17:41571524-41571524
13 KRT9 NM_000226.4(KRT9):c.482A>G (p.Asn161Ser) SNV Pathogenic 3003 rs56707768 GRCh37: 17:39727763-39727763
GRCh38: 17:41571511-41571511
14 KRT9 NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) SNV Pathogenic 2997 rs59616921 GRCh37: 17:39727758-39727758
GRCh38: 17:41571506-41571506
15 KRT9 NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) SNV Pathogenic 2997 rs59616921 GRCh37: 17:39727758-39727758
GRCh38: 17:41571506-41571506
16 KRT9 NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) SNV Conflicting interpretations of pathogenicity 66145 rs77688767 GRCh37: 17:39724592-39724592
GRCh38: 17:41568340-41568340
17 KRT16 NM_005557.4(KRT16):c.539C>T (p.Ala180Val) SNV Uncertain significance 587419 rs142750223 GRCh37: 17:39767966-39767966
GRCh38: 17:41611714-41611714
18 KRT9 NM_000226.4(KRT9):c.*40+2del Deletion Uncertain significance 631770 rs777438204 GRCh37: 17:39723483-39723483
GRCh38: 17:41567231-41567231
19 KRT9 NM_000226.4(KRT9):c.*93C>T SNV Uncertain significance 889265 GRCh37: 17:39722352-39722352
GRCh38: 17:41566100-41566100
20 KRT9 NM_000226.4(KRT9):c.*41-8C>T SNV Uncertain significance 889266 GRCh37: 17:39722412-39722412
GRCh38: 17:41566160-41566160
21 KRT9 NM_000226.4(KRT9):c.1869C>T (p.Ser623=) SNV Uncertain significance 889267 GRCh37: 17:39723528-39723528
GRCh38: 17:41567276-41567276
22 KRT9 NM_000226.4(KRT9):c.1797C>T (p.Ser599=) SNV Uncertain significance 889268 GRCh37: 17:39723600-39723600
GRCh38: 17:41567348-41567348
23 KRT9 NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile) SNV Uncertain significance 889332 GRCh37: 17:39724881-39724881
GRCh38: 17:41568629-41568629
24 KRT9 NM_000226.4(KRT9):c.1021A>G (p.Ile341Val) SNV Uncertain significance 889333 GRCh37: 17:39725701-39725701
GRCh38: 17:41569449-41569449
25 KRT9 NM_000226.4(KRT9):c.*230T>C SNV Uncertain significance 323110 rs886052910 GRCh37: 17:39722215-39722215
GRCh38: 17:41565963-41565963
26 KRT9 NM_000226.4(KRT9):c.286G>A (p.Gly96Ser) SNV Uncertain significance 323138 rs145530082 GRCh37: 17:39727959-39727959
GRCh38: 17:41571707-41571707
27 KRT9 NM_000226.4(KRT9):c.1549G>A (p.Gly517Arg) SNV Uncertain significance 889953 GRCh37: 17:39723848-39723848
GRCh38: 17:41567596-41567596
28 KRT9 NM_000226.4(KRT9):c.1457G>A (p.Gly486Glu) SNV Uncertain significance 889954 GRCh37: 17:39723940-39723940
GRCh38: 17:41567688-41567688
29 KRT9 NM_000226.4(KRT9):c.697C>T (p.Arg233Cys) SNV Uncertain significance 890014 GRCh37: 17:39726418-39726418
GRCh38: 17:41570166-41570166
30 KRT9 NM_000226.4(KRT9):c.578G>A (p.Gly193Glu) SNV Uncertain significance 890015 GRCh37: 17:39727667-39727667
GRCh38: 17:41571415-41571415
31 KRT9 NM_000226.4(KRT9):c.1363C>T (p.His455Tyr) SNV Uncertain significance 891511 GRCh37: 17:39724445-39724445
GRCh38: 17:41568193-41568193
32 KRT9 NM_000226.4(KRT9):c.1290C>T (p.Ile430=) SNV Uncertain significance 891512 GRCh37: 17:39724518-39724518
GRCh38: 17:41568266-41568266
33 KRT9 NM_000226.4(KRT9):c.1275C>T (p.Asp425=) SNV Uncertain significance 891513 GRCh37: 17:39724533-39724533
GRCh38: 17:41568281-41568281
34 KRT9 NM_000226.4(KRT9):c.380A>G (p.Tyr127Cys) SNV Uncertain significance 891571 GRCh37: 17:39727865-39727865
GRCh38: 17:41571613-41571613
35 KRT9 NM_000226.4(KRT9):c.347G>A (p.Gly116Asp) SNV Uncertain significance 891572 GRCh37: 17:39727898-39727898
GRCh38: 17:41571646-41571646
36 KRT9 NM_000226.4(KRT9):c.291T>C (p.Phe97=) SNV Uncertain significance 891573 GRCh37: 17:39727954-39727954
GRCh38: 17:41571702-41571702
37 KRT9 NM_000226.4(KRT9):c.250A>G (p.Ser84Gly) SNV Uncertain significance 891574 GRCh37: 17:39727995-39727995
GRCh38: 17:41571743-41571743
38 KRT9 NM_000226.4(KRT9):c.*318C>T SNV Uncertain significance 891687 GRCh37: 17:39722127-39722127
GRCh38: 17:41565875-41565875
39 KRT9 NM_000226.4(KRT9):c.*275A>C SNV Uncertain significance 891688 GRCh37: 17:39722170-39722170
GRCh38: 17:41565918-41565918
40 KRT9 NM_000226.4(KRT9):c.*263T>C SNV Uncertain significance 891689 GRCh37: 17:39722182-39722182
GRCh38: 17:41565930-41565930
41 KRT9 NM_000226.4(KRT9):c.*225T>C SNV Uncertain significance 891690 GRCh37: 17:39722220-39722220
GRCh38: 17:41565968-41565968
42 KRT9 NM_000226.4(KRT9):c.*123T>C SNV Uncertain significance 891691 GRCh37: 17:39722322-39722322
GRCh38: 17:41566070-41566070
43 KRT9 NM_000226.4(KRT9):c.1127G>A (p.Gly376Asp) SNV Uncertain significance 891758 GRCh37: 17:39724803-39724803
GRCh38: 17:41568551-41568551
44 KRT9 NM_000226.4(KRT9):c.1126G>A (p.Gly376Ser) SNV Uncertain significance 891759 GRCh37: 17:39724804-39724804
GRCh38: 17:41568552-41568552
45 KRT9 NM_000226.4(KRT9):c.1120C>T (p.Arg374Trp) SNV Uncertain significance 891760 GRCh37: 17:39724810-39724810
GRCh38: 17:41568558-41568558
46 KRT9 NM_000226.4(KRT9):c.1119C>T (p.Leu373=) SNV Uncertain significance 891761 GRCh37: 17:39724811-39724811
GRCh38: 17:41568559-41568559
47 KRT9 NM_000226.4(KRT9):c.1069T>C (p.Ser357Pro) SNV Uncertain significance 891762 GRCh37: 17:39724861-39724861
GRCh38: 17:41568609-41568609
48 KRT9 NM_000226.4(KRT9):c.212A>G (p.Tyr71Cys) SNV Uncertain significance 891829 GRCh37: 17:39728033-39728033
GRCh38: 17:41571781-41571781
49 KRT9 NM_000226.4(KRT9):c.121G>A (p.Gly41Ser) SNV Uncertain significance 891830 GRCh37: 17:39728124-39728124
GRCh38: 17:41571872-41571872
50 KRT9 NM_000226.4(KRT9):c.-23A>G SNV Uncertain significance 891831 GRCh37: 17:39728267-39728267
GRCh38: 17:41572015-41572015

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 KRT9 p.Asn161Lys VAR_003822 rs57536312
2 KRT9 p.Arg163Gln VAR_003823 rs57758262
3 KRT9 p.Arg163Trp VAR_003824 rs59616921
4 KRT9 p.Leu168Ser VAR_003825 rs61157095
5 KRT9 p.Met157Thr VAR_010499 rs59510579
6 KRT9 p.Met157Val VAR_010500 rs58597584
7 KRT9 p.Leu160Val VAR_010501 rs28940896
8 KRT9 p.Asn161Ser VAR_010502 rs56707768
9 KRT9 p.Asn161Tyr VAR_010503 rs59296273
10 KRT9 p.Gln172Pro VAR_010504 rs59878153
11 KRT9 p.Leu160Phe VAR_035438 rs28940896
12 KRT9 p.Val171Met VAR_035439 rs57019720
13 KRT9 p.Met157Arg VAR_036805 rs59510579
14 KRT9 p.Asn161His VAR_036806 rs59296273
15 KRT9 p.Asn161Ile VAR_036807 rs56707768
16 KRT9 p.Arg163Pro VAR_036808 rs57758262
17 KRT9 p.Leu458Phe VAR_036810 rs58120120
18 KRT9 p.Met157Lys VAR_071977 rs59510579
19 KRT9 p.Cys406Arg VAR_071978 rs77688767
20 KRT9 p.Tyr454His VAR_071979 rs267607420
21 KRT9 p.Leu458Pro VAR_071980

Expression for Palmoplantar Keratoderma, Epidermolytic

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Epidermolytic.

Pathways for Palmoplantar Keratoderma, Epidermolytic

Pathways related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 PKP1 KRT9 KRT86 KRT77 KRT72 KRT6B
2
Show member pathways
12.36 KRT9 KRT17 KRT16 KRT14 KRT10
3
Show member pathways
12.36 PKP1 KRT9 KRT86 KRT77 KRT72 KRT6B
4 12.21 KRT6B KRT6A KRT4 KRT17 KRT10
5
Show member pathways
11.89 PKP1 KRT6A KRT4 KRT2 KRT17 KRT16
6 11.72 KRT9 KRT17 KRT16 KRT14 KRT10 DSG1
7
Show member pathways
11.64 PKP1 DSP DSG1

GO Terms for Palmoplantar Keratoderma, Epidermolytic

Cellular components related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.24 KRT9 KRT86 KRT77 KRT72 KRT6B KRT6A
2 extracellular exosome GO:0070062 10.1 KRT9 KRT77 KRT72 KRT6B KRT6A KRT2
3 cornified envelope GO:0001533 9.76 PKP1 KRT2 KRT10 KRT1 EVPL DSP
4 desmosome GO:0030057 9.65 PKP1 EVPL DSP DSG4 DSG1
5 ficolin-1-rich granule membrane GO:0101003 9.61 PKP1 DSP DSG1
6 keratin filament GO:0045095 9.61 KRT86 KRT77 KRT72 KRT6B KRT6A KRT4
7 intermediate filament cytoskeleton GO:0045111 9.58 KRT4 KRT17 EVPL
8 intermediate filament GO:0005882 9.53 PKP1 KRT9 KRT86 KRT77 KRT72 KRT6B

Biological processes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.91 PKP1 KRT9 KRT86 KRT77 KRT72 KRT6B
2 cell-cell adhesion GO:0098609 9.81 PKP1 DSP DSG4 DSG1
3 cytoskeleton organization GO:0007010 9.8 KRT6B KRT6A KRT4 KRT16
4 epidermis development GO:0008544 9.77 KRT9 KRT2 KRT14 EVPL DSP
5 wound healing GO:0042060 9.72 KRT6A EVPL DSP
6 keratinocyte differentiation GO:0030216 9.65 KRT16 KRT10 EVPL DSP DSG4
7 intermediate filament organization GO:0045109 9.62 KRT9 KRT2 KRT17 DSP
8 intermediate filament cytoskeleton organization GO:0045104 9.61 KRT16 EVPL DSP
9 morphogenesis of an epithelium GO:0002009 9.58 KRT6A KRT17 KRT16
10 keratinization GO:0031424 9.58 PKP1 KRT9 KRT86 KRT77 KRT72 KRT6B
11 establishment of skin barrier GO:0061436 9.57 KRT16 KRT1
12 hair cycle GO:0042633 9.56 KRT16 KRT14
13 peptide cross-linking GO:0018149 9.55 KRT2 KRT10 KRT1 EVPL DSP
14 protein heterotetramerization GO:0051290 9.54 KRT10 KRT1
15 intermediate filament bundle assembly GO:0045110 9.52 PKP1 KRT14
16 keratinocyte migration GO:0051546 9.48 KRT2 KRT16
17 positive regulation of epidermis development GO:0045684 9.46 KRT2 KRT10

Molecular functions related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.5 KRT9 KRT17 KRT16 KRT14 KRT10 EVPL
2 structural constituent of epidermis GO:0030280 9.46 PKP1 KRT2 KRT10 KRT1
3 intermediate filament binding GO:0019215 9.26 PKP1 EVPL
4 structural constituent of cytoskeleton GO:0005200 9.17 KRT9 KRT6B KRT6A KRT2 KRT16 KRT14

Sources for Palmoplantar Keratoderma, Epidermolytic

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
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