NEPPK
MCID: PLM136
MIFTS: 50

Palmoplantar Keratoderma, Nonepidermolytic (NEPPK)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 57 13 71
Nonepidermolytic Palmoplantar Keratoderma 57 12 73 29 6 15
Tylosis 57 12 73
Neppk 57 73 54
Keratoderma, Palmoplantar, Diffuse 44 71
Unna-Thost Syndrome 12 71
Diffuse Nonepidermolytic Palmomplantar Keratoderma 12
Krt1-Related Diffuse Nonepidermolytic Keratoderma 58
Keratoderma, Palmoplantar, Non-Epidermolytic 73
Keratoderma, Palmoplantar, Nonepidermolytic 39
Keratoderma, Nonepidermolytic Palmoplantar 57
Non-Epidermolytic Unna-Thost Disease 73
Nonepidermolytic Unna-Thost Disease 73
Krt1-Related Diffuse Neppk 58
Thost-Unna Syndrome 12
Hyperkeratosis 71
Ppkne 57

Characteristics:

OMIM®:

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


HPO:

31
palmoplantar keratoderma, nonepidermolytic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050428
OMIM® 57 600962
NCIt 50 C3147
SNOMED-CT 67 81206005
Orphanet 58 ORPHA530838
MedGen 41 C1833030
SNOMED-CT via HPO 68 263681008
UMLS 71 C0022584 C0870082 C1833030 more

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

UniProtKB/Swiss-Prot : 73 Keratoderma, palmoplantar, non-epidermolytic: A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, nonepidermolytic, focal 2 and palmoplantar keratoderma, nonepidermolytic, focal or diffuse. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drugs Tavaborole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include palms, soles and skin, and related phenotypes are nonepidermolytic palmoplantar keratoderma and Decreased viability

Disease Ontology : 12 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

More information from OMIM: 600962

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic, focal 2 32.8 TRPV3 SPATA22
2 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 32.8 KRT6C KRT17 KRT16
3 palmoplantar keratoderma, nonepidermolytic, focal 1 32.6 TRPV3 RHBDF2 KRT9 KRT6C KRT16
4 palmoplantar keratoderma, epidermolytic 31.0 PKP1 KRT9 KRT17 KRT16 KRT1 DSP
5 palmoplantar keratoderma and woolly hair 30.6 JUP DSP DSC2
6 atrial standstill 1 30.1 TMEM43 PKP2 JUP DSP DSG2 DSC2
7 hereditary palmoplantar keratoderma 30.1 KRT9 DSG1
8 epidermolysis bullosa 29.7 PKP1 KRT17 KRT16 KRT1 DSP
9 epidermolysis bullosa simplex 29.7 PKP1 KRT17 KRT16 KRT1 DSP
10 focal palmoplantar keratoderma 29.7 TRPV3 KRT6C KRT17 KRT16 DSG1
11 ichthyosis 29.4 KRT17 KRT16 KRT1 GJA1
12 naxos disease 29.4 TMEM43 PKP3 PKP2 PKP1 JUP GJA1
13 keratosis 29.3 KRT9 KRT17 KRT16 KRT1 GJA1 DSP
14 pachyonychia congenita 1 29.2 RHBDF2 KRT9 KRT6C KRT17 KRT16 KRT1
15 arrhythmogenic right ventricular cardiomyopathy 29.0 TMEM43 PKP3 PKP2 JUP GJA1 DSP
16 skin disease 28.4 KRT9 KRT17 KRT16 KRT1 GJA1 DSP
17 palmoplantar keratosis 28.1 RHBDF2 PKP2 PKP1 KRT9 KRT17 KRT16
18 familial woolly hair syndrome 27.9 TMEM43 PKP3 PKP2 PKP1 JUP GJA1
19 cardiomyopathy, dilated, with woolly hair and keratoderma 27.7 TMEM43 PKP3 PKP2 PKP1 JUP GJA1
20 tylosis with esophageal cancer 11.7
21 palmoplantar keratoderma, bothnian type 11.3
22 ankylosing vertebral hyperostosis with tylosis 11.3
23 unna-thost palmoplantar keratoderma 10.9
24 esophageal cancer 10.4
25 acanthoma 10.3 KRT17 KRT1
26 median rhomboid glossitis 10.3 KRT17 KRT16
27 glossitis 10.3 KRT17 KRT16
28 pachyonychia congenita 2 10.3 KRT17 KRT16
29 epidermolytic acanthoma 10.3 KRT9 KRT1
30 grover's disease 10.3 JUP DSP
31 acrokeratoderma, hereditary papulotranslucent 10.3 KRT9 KRT1
32 tinea corporis 10.3 KRT17 KRT16
33 epidermolysis bullosa, lethal acantholytic 10.3 JUP DSP
34 eccrine papillary adenoma 10.3 KRT9 KRT17 KRT16
35 palmoplantar keratoderma i, striate, focal, or diffuse 10.2
36 keratoderma with woolly hair 10.2
37 pseudomembranous conjunctivitis 10.2 DSP DSG1
38 left ventricular noncompaction 1 10.2 PKP2 JUP
39 arrhythmogenic right ventricular dysplasia, familial, 13 10.2 PKP2 DSP
40 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSP DSG1
41 pemphigus vegetans 10.2 DSG1 DSC3
42 borst-jadassohn intraepidermal carcinoma 10.2 KRT17 KRT16
43 epidermolytic hyperkeratosis 10.2 KRT9 KRT17 KRT16 KRT1
44 cardiomyopathy, dilated, 1h 10.1 TMEM43 DSP DSC2
45 cardiomyopathy, dilated, 1a 10.1 TMEM43 DSP DSC2
46 striate palmoplantar keratoderma 10.1 KRT1 DSP DSG1
47 iga pemphigus 10.1 DSG1 DSC3
48 keratoacanthoma 10.1 KRT17 KRT16 DSG1
49 cardiac arrhythmia 10.1 PKP2 JUP DSP
50 leukoplakia 10.1

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



Diseases related to Palmoplantar Keratoderma, Nonepidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

31
# Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma 31 HP:0007404

Symptoms via clinical synopsis from OMIM®:

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

Skin Nails Hair Skin Electron Microscopy:
no aggregated tonofilaments
no large keratohyalin granules

Skin Nails Hair Skin:
smooth, waxy, thick skin over palms and soles, desquamating in large flakes
well-defined erythematous border
deep fissures of skin creases
skin over joint surfaces of hands and feet is thick, red, and edematous
hyperkeratosis of skin at nipples and umbilicus

Clinical features from OMIM®:

600962 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.47 GJA1
2 Decreased viability GR00249-S 9.47 DSC3 PKP1 TRPV3
3 Decreased viability GR00381-A-1 9.47 PKP3 TMEM43
4 Decreased viability GR00386-A-1 9.47 DSC3 KRT9
5 Decreased viability GR00402-S-2 9.47 DSG4 DSP KRT16 KRT6C PKP1 RHBDF2

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 DSC2 DSG2 DSP GJA1 JUP KRT1
2 cellular MP:0005384 9.93 DSC3 DSG2 DSP GJA1 JUP KRT16
3 integument MP:0010771 9.8 DSC3 DSG1 DSG2 DSG4 DSP GJA1
4 mortality/aging MP:0010768 9.44 DSC3 DSG2 DSG4 DSP GJA1 JUP

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tavaborole Approved, Investigational Phase 3 174671-46-6
2
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4 Antifungal Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Pharmaceutical Solutions Phase 3
7 Immunoglobulins Phase 2
8 Antibodies 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 NCT01270971 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 NCT01302119 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, Nonepidermolytic

Cochrane evidence based reviews: keratoderma, palmoplantar, diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

# Genetic test Affiliating Genes
1 Nonepidermolytic Palmoplantar Keratoderma 29 KRT1

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

The Foundational Model of Anatomy Ontology organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

19
Palms, Soles

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

40
Skin

Publications for Palmoplantar Keratoderma, Nonepidermolytic

Articles related to Palmoplantar Keratoderma, Nonepidermolytic:

(show all 26)
# Title Authors PMID Year
1
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. 57 6
12406346 2002
2
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. 6 57
7528239 1994
3
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 57 54
7544664 1995
4
Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 57
12192490 2002
5
Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins. 57
10536965 1999
6
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 57
7531539 1994
7
Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. 57
7504553 1993
8
Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later. 57
1350396 1992
9
Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree. 61
30452289 2018
10
A novel heterozygous missense mutation of the desmoglein 1 gene in a Chinese family with diffuse nonepidermolytic palmoplantar keratoderma. 61
29770786 2018
11
Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. 61
26032342 2016
12
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 61
23830519 2013
13
What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome). 61
20486455 2010
14
A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. 61
15987292 2005
15
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. 61
15897387 2005
16
Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association? 61
15606835 2004
17
Novel keratin 17 mutations in pachyonychia congenita type 2. 61
11348474 2001
18
Molecular cloning, tissue expression, and chromosomal assignment of a novel gene encoding a subunit of the human signal-recognition particle. 61
11281415 2001
19
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
20
Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism. 61
10620133 2000
21
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
22
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. 54
9833037 1998
23
Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer. 61
9609757 1998
24
Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. 61
9610536 1998
25
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. 61
9216520 1997
26
Human keratin diseases: hereditary fragility of specific epithelial tissues. 54
9028791 1996

Variations for Palmoplantar Keratoderma, Nonepidermolytic

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT1 KRT1, 24-BP DEL, NT1376 Deletion Pathogenic 15917
2 KRT1 KRT1, IVS1, T-A, +2 SNV Pathogenic 15916
3 KRT1 NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) SNV Pathogenic 15910 rs57977969 12:53073912-53073912 12:52680128-52680128
4 KRT1 NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) SNV Uncertain significance 881053 12:53069246-53069246 12:52675462-52675462
5 KRT1 NM_006121.4(KRT1):c.1002T>C (p.Asn334=) SNV Uncertain significance 881095 12:53071226-53071226 12:52677442-52677442
6 KRT1 NM_006121.4(KRT1):c.729C>T (p.Asp243=) SNV Uncertain significance 881567 12:53072403-53072403 12:52678619-52678619
7 KRT1 NM_006121.4(KRT1):c.*72G>T SNV Uncertain significance 883407 12:53068905-53068905 12:52675121-52675121
8 KRT1 NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) SNV Uncertain significance 883452 12:53070176-53070176 12:52676392-52676392
9 KRT1 NM_006121.4(KRT1):c.257G>A (p.Arg86His) SNV Uncertain significance 309655 rs886049637 12:53073876-53073876 12:52680092-52680092
10 KRT1 NM_006121.4(KRT1):c.302G>T (p.Gly101Val) SNV Uncertain significance 309654 rs147840212 12:53073831-53073831 12:52680047-52680047
11 KRT1 NM_006121.4(KRT1):c.477G>C (p.Gln159His) SNV Uncertain significance 309652 rs886049635 12:53073656-53073656 12:52679872-52679872
12 KRT1 NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) SNV Uncertain significance 309653 rs886049636 12:53073759-53073759 12:52679975-52679975
13 KRT1 NM_006121.4(KRT1):c.*372G>A SNV Uncertain significance 309631 rs886049633 12:53068605-53068605 12:52674821-52674821
14 KRT1 NM_006121.4(KRT1):c.*275G>A SNV Uncertain significance 309633 rs886049634 12:53068702-53068702 12:52674918-52674918
15 KRT1 NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) SNV Uncertain significance 881054 12:53069348-53069348 12:52675564-52675564
16 KRT1 NM_006121.4(KRT1):c.45G>A (p.Gly15=) SNV Likely benign 883502 12:53074088-53074088 12:52680304-52680304
17 KRT1 NM_006121.4(KRT1):c.1475+14G>A SNV Likely benign 309643 rs369324638 12:53070045-53070045 12:52676261-52676261
18 KRT1 NM_006121.4(KRT1):c.1107C>T (p.Ala369=) SNV Likely benign 309644 rs183980482 12:53071121-53071121 12:52677337-52677337
19 KRT1 NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) SNV Likely benign 309636 rs140098565 12:53069000-53069000 12:52675216-52675216
20 KRT1 NM_006121.4(KRT1):c.1527C>T (p.His509=) SNV Likely benign 309640 rs371428130 12:53069385-53069385 12:52675601-52675601
21 KRT1 NM_006121.4(KRT1):c.1482T>C (p.Ser494=) SNV Likely benign 309642 rs181516749 12:53069522-53069522 12:52675738-52675738
22 KRT1 NM_006121.4(KRT1):c.1511-11T>C SNV Likely benign 881514 12:53069412-53069412 12:52675628-52675628
23 KRT1 NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) SNV Benign 883453 12:53070240-53070240 12:52676456-52676456
24 KRT1 NM_006121.4(KRT1):c.-21C>T SNV Benign 309657 rs189087382 12:53074153-53074153 12:52680369-52680369
25 KRT1 NM_006121.4(KRT1):c.741T>C (p.Ser247=) SNV Benign 309650 rs56895471 12:53072391-53072391 12:52678607-52678607
26 KRT1 NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) SNV Benign 309639 rs77846840 12:53069243-53069243 12:52675459-52675459
27 KRT1 NM_006121.4(KRT1):c.592-8G>A SNV Benign 309651 rs147622831 12:53072548-53072548 12:52678764-52678764
28 KRT1 NM_006121.4(KRT1):c.*91T>C SNV Benign 309635 rs560913567 12:53068886-53068886 12:52675102-52675102
29 KRT1 NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) SNV Benign 66621 rs17678945 12:53070174-53070174 12:52676390-52676390
30 KRT1 NM_006121.4(KRT1):c.*344C>T SNV Benign 309632 rs11170231 12:53068633-53068633 12:52674849-52674849
31 KRT1 NM_006121.4(KRT1):c.762G>A (p.Ser254=) SNV Benign 309649 rs2741155 12:53072370-53072370 12:52678586-52678586
32 KRT1 NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) SNV Benign 309638 rs11170232 12:53069235-53069235 12:52675451-52675451
33 KRT1 NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) SNV Benign 309647 rs769218372 12:53071197-53071197 12:52677413-52677413
34 KRT1 NM_006121.4(KRT1):c.*95G>A SNV Benign 309634 rs144520865 12:53068882-53068882 12:52675098-52675098
35 KRT1 NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) SNV Benign 309637 rs14024 12:53069014-53069014 12:52675230-52675230
36 KRT1 NM_006121.4(KRT1):c.1389C>T (p.Arg463=) SNV Benign 66623 rs936958 12:53070145-53070145 12:52676361-52676361
37 KRT1 NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) SNV Benign 309645 rs150503977 12:53071154-53071154 12:52677370-52677370
38 KRT1 NM_006121.4(KRT1):c.1035C>T (p.Leu345=) SNV Benign 309646 rs192365492 12:53071193-53071193 12:52677409-52677409
39 KRT1 NM_006121.4(KRT1):c.1506T>C (p.Ser502=) SNV Benign 309641 rs34154891 12:53069498-53069498 12:52675714-52675714
40 KRT1 NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) SNV Benign 309648 rs139428176 12:53071246-53071246 12:52677462-52677462
41 KRT1 NM_006121.4(KRT1):c.75C>T (p.Ile25=) SNV Benign 66664 rs828367 12:53074058-53074058 12:52680274-52680274
42 KRT1 NM_006121.4(KRT1):c.113G>A (p.Arg38His) SNV Benign 309656 rs34787940 12:53074020-53074020 12:52680236-52680236

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

73
# Symbol AA change Variation ID SNP ID
1 KRT1 p.Lys74Ile VAR_017819 rs57977969

Expression for Palmoplantar Keratoderma, Nonepidermolytic

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

Pathways for Palmoplantar Keratoderma, Nonepidermolytic

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.32 TRPV3 RHBDF2 PKP3 PKP2 PKP1 KRT1
2 extracellular exosome GO:0070062 10.13 KRT9 KRT6C KRT16 KRT1 JUP DSP
3 cell junction GO:0030054 10.11 PKP3 PKP2 PKP1 JUP GJA1 DSP
4 intermediate filament GO:0005882 9.91 PKP2 PKP1 KRT9 KRT6C KRT17 KRT16
5 adherens junction GO:0005912 9.85 PKP3 PKP2 PKP1 JUP DSC2
6 cell-cell junction GO:0005911 9.81 PKP3 PKP2 JUP DSP DSG4 DSG2
7 intercalated disc GO:0014704 9.8 PKP2 JUP GJA1 DSP DSG2 DSC2
8 lateral plasma membrane GO:0016328 9.69 JUP DSG2 DSG1
9 ficolin-1-rich granule membrane GO:0101003 9.67 PKP1 DSP DSG1
10 desmosome GO:0030057 9.65 PKP3 PKP2 PKP1 JUP DSP DSG4
11 messenger ribonucleoprotein complex GO:1990124 9.61 PKP3 PKP2 PKP1
12 fascia adherens GO:0005916 9.58 JUP GJA1 DSP
13 cornified envelope GO:0001533 9.36 PKP3 PKP2 PKP1 KRT1 JUP DSP

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.06 PKP3 PKP2 PKP1 JUP DSG4 DSG2
2 neutrophil degranulation GO:0043312 9.97 PKP1 KRT1 JUP DSP DSG1
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.89 DSG4 DSG2 DSG1 DSC3 DSC2
4 cell-cell adhesion GO:0098609 9.85 PKP3 PKP2 PKP1 JUP DSP DSG4
5 cornification GO:0070268 9.83 PKP3 PKP2 PKP1 KRT9 KRT6C KRT17
6 cell-cell junction assembly GO:0007043 9.78 PKP3 PKP2 PKP1 DSG1
7 regulation of heart rate by cardiac conduction GO:0086091 9.77 PKP2 JUP DSP DSG2 DSC2
8 keratinocyte differentiation GO:0030216 9.74 KRT16 DSP DSG4
9 skin development GO:0043588 9.72 KRT9 JUP DSP
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 PKP2 JUP DSP DSG2 DSC2
11 intermediate filament cytoskeleton organization GO:0045104 9.7 KRT6C KRT16 DSP
12 intermediate filament organization GO:0045109 9.69 KRT9 KRT17 DSP
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.65 PKP2 JUP DSP DSG2 DSC2
14 desmosome organization GO:0002934 9.63 PKP2 DSP DSG2
15 establishment of skin barrier GO:0061436 9.61 KRT16 KRT1
16 desmosome assembly GO:0002159 9.61 PKP3 PKP2 JUP
17 maternal process involved in female pregnancy GO:0060135 9.6 DSG2 DSG1
18 morphogenesis of an epithelium GO:0002009 9.59 KRT17 KRT16
19 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 PKP2 GJA1
20 intermediate filament bundle assembly GO:0045110 9.56 PKP2 PKP1
21 negative regulation of mRNA catabolic process GO:1902373 9.54 PKP3 PKP1
22 keratinization GO:0031424 9.5 PKP3 PKP2 PKP1 KRT9 KRT6C KRT17

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.76 PKP3 PKP2 PKP1 JUP
2 structural constituent of cytoskeleton GO:0005200 9.61 KRT9 KRT16 DSP
3 cell adhesion molecule binding GO:0050839 9.56 PKP3 JUP DSP DSG2
4 structural molecule activity GO:0005198 9.55 KRT9 KRT17 KRT16 JUP DSP
5 structural constituent of epidermis GO:0030280 9.4 PKP1 KRT1
6 gamma-catenin binding GO:0045295 9.37 DSG1 DSC3
7 intermediate filament binding GO:0019215 9.32 PKP2 PKP1
8 alpha-catenin binding GO:0045294 9.13 PKP3 PKP2 JUP
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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