NEPPK
MCID: PLM136
MIFTS: 39

Palmoplantar Keratoderma, Nonepidermolytic (NEPPK) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 54 13 69
Nonepidermolytic Palmoplantar Keratoderma 12 66 29 14
Tylosis 12 50 66
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 50 69
Keratoderma, Palmoplantar, Diffuse 42 69
Unna-Thost Syndrome 12 69
Diffuse Nonepidermolytic Palmomplantar Keratoderma 12
Focal Non Epidermolytic Palmoplantar Keratoderma 50
Keratoderma, Palmoplantar, Non-Epidermolytic 66
Non-Epidermolytic Unna-Thost Disease 66
Nonepidermolytic Unna-Thost Disease 66
Thost-Unna Syndrome 12
Early Onset Tylosis 50
Late Onset Tylosis 50
Familial Tylosis 50
Hyperkeratosis 69
Type B Tylosis 69
Type a Tylosis 69
Neppk 66

Characteristics:

HPO:

32
palmoplantar keratoderma, nonepidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 600962
Disease Ontology 12 DOID:0050428
NCIt 47 C3147
MedGen 40 C1833030

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

NIH Rare Diseases : 50 tylosis is a rare genetic disorder characterized by hyperkeratosis of the palms of the hands and soles of the feet. hyperkeratosis is an overgrowth of the outer skin layer (epidermis). the hyperkeratosis may be limited to pressure-bearing areas or cover the entire surface of the palms and soles. the degree and pattern of involvement can vary between the hands and feet of the same individual, within families, and among families. tylosis is inherited in an autosomal dominant pattern. two types of tylosis have been described, a late onset form and an early onset form. late onset tylosis (type a) occurs between the ages of 5 and 15 and is reported to be associated with a high incidence of esophageal cancer. early onset tylosis (type b) occurs in the first year of life and appears to be a benign disorder. distinguishing between the two is important for management and prognosis. last updated: 4/26/2016

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to tylosis with esophageal cancer and palmoplantar keratoderma, nonepidermolytic, focal or diffuse, and has symptoms including nonepidermolytic palmoplantar keratoderma An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Acitretin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, palms and soles.

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

UniProtKB/Swiss-Prot : 66 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.

Description 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 all 46)
id Related Disease Score Top Affiliating Genes
1 tylosis with esophageal cancer 12.3
2 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.2
3 palmoplantar keratoderma, nonepidermolytic, focal 12.2
4 palmoplantar keratoderma, nonepidermolytic, focal 2 12.1
5 ankylosing vertebral hyperostosis with tylosis 12.0
6 ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis, included 11.8
7 palmoplantar keratoderma, epidermolytic 11.7
8 nonepidermolytic palmoplantar hyperkeratosis 11.3
9 palmoplantar keratoderma, bothnian type 11.1
10 pneumonia caused by pseudomonas aeruginosa infection 10.1 DSG1 KRT1
11 dermatitis, atopic 2 10.1 KRT1 LOR
12 pseudomyotonia 10.1 GJB3 LOR
13 cataract 15, multiple types 10.1 KRT16 KRT9
14 chronic mountain sickness 10.1 KRT1 KRT16 KRT9
15 white sponge nevus 1 10.1 KRT1 KRT16 KRT9
16 erythrokeratodermia variabilis et progressiva 10.0 GJB3 LOR
17 bradyopsia 10.0 KRT1 KRT10
18 craniodiaphyseal dysplasia, autosomal dominant 10.0 KRT10 KRT16
19 episodic angioedema with eosinophilia 10.0 KRT1 KRT10
20 brachydactyly small stature face anomalies 10.0 KRT10 KRT16
21 subglottis verrucous carcinoma 10.0 KRT1 KRT10
22 bronchiolitis obliterans with obstructive pulmonary disease 10.0 KRT10 KRT16
23 mixed cell adenoma 10.0 KRT1 KRT10
24 thymus mucoepidermoid carcinoma 10.0 KRT1 KRT10
25 familial acute necrotizing encephalopathy 10.0 KRT10 KRT16
26 secondary corneal edema 10.0 KRT10 KRT16
27 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.0 KRT1 KRT10
28 distal arthrogryposis 10.0 KRT10 KRT16
29 cole-carpenter syndrome 1 9.9 KRT1 KRT10
30 intraocular retinoblastoma 9.9 KRT1 KRT10
31 skin atrophy 9.9 KRT1 KRT10 KRT16
32 pachyonychia congenita 2 9.9 KRT10 KRT16 KRT9
33 erdheim-chester disease 9.9 KRT1 KRT10 KRT9
34 ciliary dyskinesia, primary, 1, with or without situs inversus 9.9 KRT1 KRT10 KRT9
35 squamous cell carcinoma 9.9 KRT1 KRT10 KRT9
36 vascular dementia 9.9 KRT10 KRT16
37 richter's syndrome 9.9 KRT1 KRT10 LOR
38 malignant spindle cell melanoma 9.8 DSG1 KRT10 KRT16
39 mast-cell leukemia 9.8 KRT10 KRT16
40 breast leiomyoma 9.8 CTSC KRT10 KRT9
41 scott syndrome 9.8 KRT1 KRT10 KRT16 KRT9
42 epidermolysis bullosa simplex-mp 9.8 KRT1 KRT10 KRT16 KRT9
43 ichthyosis histrix, curth-macklin type 9.6 KRT1 KRT10 KRT16 KRT9 LOR
44 solitary bone cyst 9.2 DSG1 GJB3 KRT1 KRT10 KRT16 KRT9
45 keratosis palmoplantaris striata iii 8.9 CTSC DSG1 GJB3 KRT1 KRT10 KRT16
46 carotid artery thrombosis 8.9 CTSC DSG1 GJB3 KRT1 KRT10 KRT16

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



Diseases related to Palmoplantar Keratoderma, Nonepidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic

Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

600962

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

32
id Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma 32 HP:0007404

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved 55079-83-9 6437841 5284513
2 Dermatologic Agents
3 Keratolytic Agents
4 Contraceptive Agents
5 Contraceptives, Oral
6 Interferon-gamma
7 interferons

Interventional clinical trials:


id Name Status NCT ID Phase
1 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
2 Cytokines in Papillon-Lefèvre Syndrome Completed NCT01116934

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:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic 29

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

39
Skin

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

18
Palms, Soles

Publications for Palmoplantar Keratoderma, Nonepidermolytic

Variations for Palmoplantar Keratoderma, Nonepidermolytic

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

66
id Symbol AA change Variation ID SNP ID
1 KRT1 p.Lys74Ile VAR_017819 rs57977969

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 NM_006121.3(KRT1): c.221A> T (p.Lys74Ile) single nucleotide variant Pathogenic rs57977969 GRCh37 Chromosome 12, 53073912: 53073912
2 KRT1 KRT1, IVS1, T-A, +2 single nucleotide variant Pathogenic
3 KRT1 KRT1, 24-BP DEL, NT1376 deletion Pathogenic

Expression for Palmoplantar Keratoderma, Nonepidermolytic

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

Pathways for Palmoplantar Keratoderma, Nonepidermolytic

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 DSG1 KRT1 KRT10 KRT16 KRT9 LOR
2
Show member pathways
11.56 DSG1 KRT1 KRT10 KRT16 KRT9 LOR
3 10.9 DSG1 KRT10

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 CTSC DSG1 KRT1 KRT10 KRT16 KRT9
2 intermediate filament GO:0005882 9.26 KRT1 KRT10 KRT16 KRT9
3 cornified envelope GO:0001533 8.92 DSG1 KRT1 KRT10 LOR

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.61 CTSC DSG1 KRT1
2 keratinocyte differentiation GO:0030216 9.5 KRT10 KRT16 LOR
3 peptide cross-linking GO:0018149 9.43 KRT1 KRT10 LOR
4 keratinization GO:0031424 9.43 DSG1 KRT1 KRT10 KRT16 KRT9 LOR
5 skin development GO:0043588 9.4 GJB3 KRT9
6 establishment of skin barrier GO:0061436 9.37 KRT1 KRT16
7 skin epidermis development GO:0098773 9.33 KRT1 KRT10 LOR
8 cornification GO:0070268 9.1 DSG1 KRT1 KRT10 KRT16 KRT9 LOR

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 KRT1 KRT16 LOR
2 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT9 LOR
3 structural constituent of epidermis GO:0030280 8.8 KRT1 KRT10 LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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