EPPK
MCID: PLM102
MIFTS: 47

Palmoplantar Keratoderma, Epidermolytic (EPPK) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

Aliases & Descriptions for Palmoplantar Keratoderma, Epidermolytic:

Name: Palmoplantar Keratoderma, Epidermolytic 54 50 52
Keratosis Palmaris Et Plantaris Familiaris 50 66 69
Keratoderma, Palmoplantar, Epidermolytic 66 29 69
Epidermolytic Palmoplantar Keratoderma 50 24 13
Epidermolytic Palmoplantar Keratoderma Vorner Type 50 69
Localized Epidermolytic Hyperkeratosis 24 66
Keratosis of Greither 50 66
Eppk 50 66
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 50
Hyperkeratosis Palmoplantar Localized Epidermolytic 50
Epidermolytic Palmoplantar Keratoderma of Voerner 50
Epidermolytic Palmoplantar Keratoderma of Vörner 50
Palmoplantar Keratoderma, Nonepidermolytic 69
Hyperkeratosis, Localized Epidermolytic 50
Keratoderma, Epidermolytic Palmoplantar 50
Unilateral Palmoplantar Verrucous Nevus 66
Palmoplantar Keratoderma Vorner Type 66
Keratoderma, Palmoplantar, Diffuse 69
Epidermolytic Unna-Thost Disease 66
Vorner Disease 24
Hyperkeratosis 69
Tylosis 66
Ehppk 66
Upvn 66

Characteristics:

HPO:

32
palmoplantar keratoderma, epidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Palmoplantar Keratoderma, Epidermolytic

OMIM : 54 Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the... (144200) more...

MalaCards based summary : Palmoplantar Keratoderma, Epidermolytic, also known as keratosis palmaris et plantaris familiaris, is related to tylosis with esophageal cancer and ankylosing vertebral hyperostosis with tylosis, and has symptoms including hyperhidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Aminolevulinic acid and Imiquimod have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and integument

UniProtKB/Swiss-Prot : 66 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 all 38)
id Related Disease Score Top Affiliating Genes
1 tylosis with esophageal cancer 12.3
2 ankylosing vertebral hyperostosis with tylosis 12.0
3 naxos disease 11.2
4 cardiomyopathy, dilated, with woolly hair and keratoderma 11.1
5 palmoplantar keratoderma, bothnian type 11.1
6 palmoplantar keratoderma, nonepidermolytic 11.1
7 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.1
8 palmoplantar keratoderma, nonepidermolytic, focal 2 11.1
9 palmoplantar keratoderma, nonepidermolytic, focal 11.1
10 ovarian cancer 10.2
11 erdheim-chester disease 10.1 KRT1 KRT9
12 ciliary dyskinesia, primary, 1, with or without situs inversus 10.1 KRT1 KRT9
13 squamous cell carcinoma 10.1 KRT1 KRT9
14 epidermolytic hyperkeratosis 10.0
15 mixed cell adenoma 9.9 KRT1 KRT17
16 sclerosteosis 1 9.9 KRT16 KRT17
17 dicrocoeliasis 9.9 KRT16 KRT17
18 craniodiaphyseal dysplasia, autosomal dominant 9.9 KRT16 KRT17
19 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 9.9 KRT1 KRT17
20 brachydactyly small stature face anomalies 9.9 KRT16 KRT17
21 keratosis palmoplantaris striata iii 9.9 KRT1 KRT16 KRT9
22 bacteriuria 9.9 KRT16 KRT17
23 scott syndrome 9.9 KRT1 KRT16 KRT9
24 carotid artery thrombosis 9.9 KRT1 KRT16 KRT9
25 epidermolysis bullosa simplex-mp 9.9 KRT1 KRT16 KRT9
26 papilledema 9.9 KRT16 KRT17
27 solitary bone cyst 9.9 KRT1 KRT16 KRT9
28 distal arthrogryposis 9.8 KRT16 KRT17
29 intraocular retinoblastoma 9.8 KRT1 KRT17
30 malignant spindle cell melanoma 9.8 KRT16 KRT17
31 breast leiomyoma 9.8 KRT17 KRT9
32 skin atrophy 9.8 KRT1 KRT16
33 atrophic gastritis 9.8 KRT16 KRT17
34 pachyonychia congenita 2 9.8 KRT16 KRT17 KRT9
35 cataract 15, multiple types 9.7 KRT16 KRT17 KRT9
36 chronic mountain sickness 9.6 KRT1 KRT16 KRT17 KRT9
37 ichthyosis histrix, curth-macklin type 9.6 KRT1 KRT16 KRT17 KRT9
38 white sponge nevus 1 9.4 EVPL KRT1 KRT16 KRT17 KRT9

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



Diseases related to Palmoplantar Keratoderma, Epidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Epidermolytic

Symptoms by clinical synopsis from OMIM:

144200

Clinical features from OMIM:

144200

Human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 palmoplantar keratoderma 32 HP:0000982
3 abnormality of the fingernails 32 HP:0001231
4 erythema 32 HP:0010783
5 eczema 32 HP:0000964
6 verrucae 32 HP:0200043
7 increased ige level 32 HP:0003212
8 palmoplantar hyperkeratosis 32 HP:0000972
9 localized epidermolytic hyperkeratosis 32 HP:0007559

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 KRT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.6 KRT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.6 KRT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 KRT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.6 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.6 KRT1 KRT17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.6 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 KRT17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 KRT17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.6 KRT1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 EVPL KRT1 KRT16 KRT17

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

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

(show top 50) (show all 204)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 106-60-5 137
2
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99011-02-6 57469
3
Fluorouracil Approved Phase 4,Phase 3,Early Phase 1 51-21-8 3385
4
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 1 15307-86-5 3033
5
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
6
Ethanol Approved Phase 4,Phase 2 64-17-5 702
7
Triamcinolone Approved, Vet_approved Phase 4,Phase 2 124-94-7 31307
8
Bezafibrate Approved Phase 4 41859-67-0 39042
9
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
10
Salicylic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2 69-72-7 338
11
Tacrolimus Approved, Investigational Phase 4,Phase 1,Phase 2 104987-11-3 445643 439492
12
Menthol Approved Phase 4 2216-51-5 16666
13
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
14
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
15
Azathioprine Approved Phase 4 446-86-6 2265
16
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
17
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
18
Mycophenolic acid Approved Phase 4 24280-93-1 446541
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 11103-57-4, 68-26-8 445354
20
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
21
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 1 50-14-6 5280793
22 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
23 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Interferon Inducers Phase 4,Phase 3,Phase 2,Phase 1
25 interferons Phase 4,Phase 3,Phase 2,Phase 1
26 Methyl 5-aminolevulinate Phase 4,Phase 3,Phase 2,Phase 1
27 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
28 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Protective Agents Phase 4,Phase 3,Phase 2
30 Radiation-Protective Agents Phase 4,Phase 2
31 Sunscreening Agents Phase 4,Phase 3,Phase 2
32 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Antimetabolites Phase 4,Phase 3,Phase 2,Early Phase 1
34 Antimetabolites, Antineoplastic Phase 4,Phase 3,Early Phase 1
35 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Hormone Antagonists Phase 4,Phase 2,Phase 3
37 Hormones Phase 4,Phase 2,Phase 3
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
39 Anticholesteremic Agents Phase 4,Phase 2
40 Hypolipidemic Agents Phase 4,Phase 2
41 Lipid Regulating Agents Phase 4,Phase 2
42 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
43 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
44 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
46 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
48 Retinol palmitate Phase 4,Phase 3,Phase 2
49
Alginic acid Phase 4 9005-32-7
50 Mineral Oil Phase 4

Interventional clinical trials:

(show top 50) (show all 329)
id Name Status NCT ID Phase
1 Imiquimod Versus Photodynamic Therapy of Actinic Keratoses in Organ Transplant Recipients Unknown status NCT01538901 Phase 4
2 Imiquimod 3.75% Cream in Combination With Cryotherapy in the Treatment of Hypertrophic Actinic Keratoses Unknown status NCT01229319 Phase 4
3 Long Term Efficacy and Safety of Eryfotona AK-NMSC® in Patients With Actinic Keratosis Unknown status NCT01656226 Phase 4
4 Potential Effect of Topical Imiquimod on Atrial Ectopy in Patients With Actinic Keratosis Unknown status NCT01413763 Phase 4
5 Open-Label Safety Study to Evaluate Imiquimod Cream, 5% for Large Areas of Actinic Keratosis Completed NCT00116649 Phase 4
6 Evaluate the Efficacy and Safety of Large-Scale Field-Directed Topical Therapy of Actinic Keratosis of the Chest w/Ingenol Mebutate 0.015% Completed NCT02446223 Phase 4
7 Topical Imiquimod Cream in Combination With Cryotherapy for the Treatment of Actinic Keratoses Completed NCT00774787 Phase 4
8 Clinical Trial of Ingenol Mebutate Gel 0.015% & 0.05% in Actinic Keratosis Completed NCT02716714 Phase 4
9 Study of Imiquimod 5% Cream in Addition to Cryotherapy in the Management of Actinic Keratoses Completed NCT00110682 Phase 4
10 Study to Assess the Safety and Efficacy of Imiquimod 5% Cream for the Treatment of Actinic Keratosis on the Arms and Hands Completed NCT00115154 Phase 4
11 Gene Expression in Renal Transplant Patients With Field Actinic Keratosis Undergoing Metvix® Photodynamic Therapy (PDT) Completed NCT01000636 Phase 4
12 Comparison of the Efficacy and Tolerability of Solaraze for 3 Versus 6 Months in Patients With Mild to Moderate Actinic Keratosis Located on the Face and Head Completed NCT00204542 Phase 4
13 Long-term Effects of Imiquimod and Diclofenac in Actinic Keratoses Completed NCT00777127 Phase 4
14 An Open-Label 18-Month Safety Study of Fluorouracil Cream 0.5% for the Treatment of Actinic Keratoses Completed NCT00377273 Phase 4
15 Long-term Effects of Imiquimod and Diclofenac in Actinic Keratoses (LEIDA 2) Completed NCT01453179 Phase 4
16 Clinical Trial to Evaluate Biafine Cream Versus Standard Care in Subjects With Actinic Keratosis Post Cryotherapy Completed NCT00695578 Phase 4
17 Effects of Topical Diclofenac on Tumor Metabolism Completed NCT01935531 Phase 4
18 Safety and Efficacy of Ingenol Mebutate 0.05% Gel When Used After Cryotherapy in the Hypertrophic Actinic Keratoses Completed NCT02251652 Phase 4
19 Efficacy and Safety of Ingenol Mebutate Gel 0.015% Compared to Diclofenac Sodium Gel 3% in Subjects With Actinic Keratoses on the Face or Scalp Completed NCT02406014 Phase 4
20 Measuring Adherence To Topical 5-Fluorouracil in a Clinic Population Completed NCT00696488 Phase 4
21 Daylight-PDT for AKs: Comparing Two Photosensitizers (BF-200 ALA and MAL) Completed NCT01893203 Phase 4
22 Zurich Multiple Endpoint Vitamin D Trial in Knee OA Patients Completed NCT00599807 Phase 4
23 Comparison of Efficacy of Intralesional Triamcinolone Injection and Clobetasol Propionate Ointment for Psoriatic Nails Completed NCT01703325 Phase 4
24 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
25 Efficacy and Safety of Treatment of Actinic Keratoses With Photodynamic Therapy Between MAL Cream and ALA Gel Recruiting NCT02647151 Phase 4
26 IM Versus 5-FU Versus IMI Versus MAL-PDT in Treatment of Actinic Keratosis Recruiting NCT02281682 Phase 4
27 Safety and Efficacy of Ingenol Mebutate Gel 0.015% for Treatment of AK on the Face in Solid Organ Transplant Recipients Recruiting NCT02866695 Phase 4
28 Daylight PDT for Actinic Keratoses: a Multicentre Study Comparing Two Photosensitizers (BF-200 ALA Versus MAL) Active, not recruiting NCT02464709 Phase 4
29 Bilateral Comparison of Treatment of Facial Actinic Keratoses Using Microneedling and Photodynamic Therapy With Aminolevulinic Acid and Blue Light Versus Photodynamic Therapy With Aminolevulinic Acid and Blue Light Using Two Incubation Times Active, not recruiting NCT02622594 Phase 4
30 Daylight-PDT With MAL for AK and Photodamaged Skin Active, not recruiting NCT02736760 Phase 4
31 Risk of Squamous Cell Carcinoma on Skin Areas Treated With Ingenol Mebutate Gel, 0.015% and Imiquimod Cream, 5% Active, not recruiting NCT01926496 Phase 4
32 Efficacy of Ingenol Mebutate on Actinic Keratoses and Field Cancerization vs Cryotherapy Not yet recruiting NCT02990221 Phase 4
33 Menthol for PDT Pain Not yet recruiting NCT02984072 Phase 4
34 Treatment of Actinic Keratoses of the Face With Imiquimod 3.75% Cream Followed by Photodynamic Therapy Terminated NCT01203878 Phase 4
35 Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study Terminated NCT00944216 Phase 4
36 Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol Terminated NCT00866684 Phase 4
37 Prevention of Skin Cancer in High Risk Patients After Conversion to a Sirolimus-based Immunosuppressive Protocol Terminated NCT01797315 Phase 4
38 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3
39 5fluorouracil for Advanced Photoaging Unknown status NCT01405144 Phase 3
40 A Study of the Clinicopathologic Behaviour of the Different Types of Unsafe Chronic Otitis Media Unknown status NCT00270660 Phase 3
41 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
42 A Multicenter Study to Evaluate the Efficacy and Safety of PEP005 (Ingenol Mebutate) Gel When Used to Treat Actinic Keratoses (AKs) on the Non Head Locations Completed NCT00742391 Phase 3
43 A Multicenter Study to Evaluate the Efficacy and Safety of PEP005 (Ingenol Mebutate) Gel When Used to Treat Actinic Keratoses (AKs) on the Non Head Locations Completed NCT00942604 Phase 3
44 Comparison Between 5-aminolevulinic Acid Photodynamic Therapy Versus Cryotherapy for Actinic Keratosis Treatment Completed NCT01459393 Phase 3
45 A Multi-Center Study to Evaluate the Efficacy and Safety of PEP005 (Ingenol Mebutate) Gel, When Used to Treat Actinic Keratoses on the Head (Face or Scalp) Completed NCT00915551 Phase 3
46 A Multi-center Study to Evaluate the Efficacy and Safety of PEP005 (Ingenol Mebutate) Gel, When Used to Treat Actinic Keratoses on the Head (Face or Scalp) Completed NCT00916006 Phase 3
47 Metvix PDT Versus Vehicle PDT With Aktilite CL128 Lamp in Patients With Actinic Keratosis on the Face and Scalp Completed NCT00304239 Phase 3
48 Metvix PDT Versus Vehicle PDT With Aktilite CL128 Lamp in Patients With Actinic Keratosis on the Face and Scalp Completed NCT00306800 Phase 3
49 Study To Evaluate The Efficacy And Safety Of Actikerall® Solution In Patients With Grade I-II Actinic Keratoses Completed NCT02289768 Phase 3
50 Safety and Efficacy Study of Photodynamic Therapy With Levulan Kerastick + Blue Light for Actinic Keratoses on the Upper Extremities Completed NCT02137785 Phase 3

Search NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

id Genetic test Affiliating Genes
1 Epidermolytic Palmoplantar Keratoderma 29 24 KRT9 KRT1

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

39
Skin

Publications for Palmoplantar Keratoderma, Epidermolytic

Variations for Palmoplantar Keratoderma, Epidermolytic

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

66 (show all 21)
id 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

ClinVar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs59616921 GRCh37 Chromosome 17, 39727758: 39727758
2 KRT9 NM_000226.3(KRT9): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs59878153 GRCh37 Chromosome 17, 39727730: 39727730
3 KRT9 NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr) single nucleotide variant Pathogenic rs59296273 GRCh37 Chromosome 17, 39727764: 39727764
4 KRT9 NM_000226.3(KRT9): c.483T> A (p.Asn161Lys) single nucleotide variant Pathogenic rs57536312 GRCh37 Chromosome 17, 39727762: 39727762
5 KRT9 NM_000226.3(KRT9): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs57758262 GRCh37 Chromosome 17, 39727757: 39727757
6 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh37 Chromosome 17, 39727776: 39727776
7 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh37 Chromosome 17, 39727763: 39727763
8 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh37 Chromosome 17, 39727742: 39727742
9 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh37 Chromosome 17, 39727767: 39727767
10 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh37 Chromosome 17, 39727775: 39727775
11 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh37 Chromosome 17, 39727734: 39727734
12 KRT1 KRT1, IVS6, G-A, +1 single nucleotide variant Pathogenic

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 EVPL KRT1 KRT16 KRT17 KRT9
2
Show member pathways
11.48 EVPL KRT1 KRT16 KRT17 KRT9
3
Show member pathways
11.29 EVPL KRT1 KRT16 KRT17

GO Terms for Palmoplantar Keratoderma, Epidermolytic

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.72 EVPL KRT1 KRT16 KRT17 KRT9
2 extracellular exosome GO:0070062 9.35 EVPL KRT1 KRT16 KRT17 KRT9
3 cornified envelope GO:0001533 9.26 EVPL KRT1
4 intermediate filament cytoskeleton GO:0045111 9.16 EVPL KRT17
5 intermediate filament GO:0005882 8.92 KRT1 KRT16 KRT17 KRT9

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

id Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.46 EVPL KRT16 KRT17 KRT9
2 keratinocyte differentiation GO:0030216 9.4 EVPL KRT16
3 peptide cross-linking GO:0018149 9.37 EVPL KRT1
4 keratinization GO:0031424 9.35 EVPL KRT1 KRT16 KRT17 KRT9
5 establishment of skin barrier GO:0061436 9.32 KRT1 KRT16
6 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
7 cornification GO:0070268 9.02 EVPL KRT1 KRT16 KRT17 KRT9

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT17 KRT9
2 structural molecule activity GO:0005198 8.92 EVPL KRT1 KRT16 KRT17

Sources for Palmoplantar Keratoderma, Epidermolytic

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