NEPPK
MCID: PLM136
MIFTS: 39

Palmoplantar Keratoderma, Nonepidermolytic (NEPPK) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

About this section

Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 52 12 68
Nonepidermolytic Palmoplantar Keratoderma 11 70 27 13
Tylosis 11 48 70
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 48 68
Keratoderma, Palmoplantar, Diffuse 39 68
Unna-Thost Syndrome 11 68
Diffuse Nonepidermolytic Palmomplantar Keratoderma 11
Focal Non Epidermolytic Palmoplantar Keratoderma 48
Keratoderma, Palmoplantar, Non-Epidermolytic 70
Non-Epidermolytic Unna-Thost Disease 70
 
Nonepidermolytic Unna-Thost Disease 70
Thost-Unna Syndrome 11
Early Onset Tylosis 48
Late Onset Tylosis 48
Familial Tylosis 48
Hyperkeratosis 68
Type a Tylosis 68
Type B Tylosis 68
Neppk 70

Characteristics:

HPO:

64
palmoplantar keratoderma, nonepidermolytic:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 600962
Disease Ontology11 DOID:0050428
NCIt45 C3147
MedGen37 C1833030

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

About this section
NIH Rare Diseases:48 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 are Staphylococcus aureus infection and Developmental Biology. Affiliated tissues include palms, soles and skin.

Disease Ontology:11 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

UniProtKB/Swiss-Prot:70 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:52 600962

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

About this section

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1tylosis with esophageal cancer12.3
2palmoplantar keratoderma, nonepidermolytic, focal or diffuse12.2
3palmoplantar keratoderma, nonepidermolytic, focal12.2
4palmoplantar keratoderma, nonepidermolytic, focal 212.1
5ankylosing vertebral hyperostosis with tylosis12.0
6ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis, included11.8
7palmoplantar keratoderma, epidermolytic11.7
8nonepidermolytic palmoplantar hyperkeratosis11.3
9palmoplantar keratoderma, bothnian type11.1
10pneumonia caused by pseudomonas aeruginosa infection10.1DSG1, KRT1
11dermatitis, atopic 210.1KRT1, LOR
12pseudomyotonia10.1GJB3, LOR
13cataract 15, multiple types10.1KRT16, KRT9
14chronic mountain sickness10.1KRT1, KRT16, KRT9
15white sponge nevus 110.1KRT1, KRT16, KRT9
16erythrokeratodermia variabilis et progressiva10.0GJB3, LOR
17bradyopsia10.0KRT1, KRT10
18craniodiaphyseal dysplasia, autosomal dominant10.0KRT10, KRT16
19episodic angioedema with eosinophilia10.0KRT1, KRT10
20brachydactyly small stature face anomalies10.0KRT10, KRT16
21subglottis verrucous carcinoma10.0KRT1, KRT10
22bronchiolitis obliterans with obstructive pulmonary disease10.0KRT10, KRT16
23mixed cell adenoma10.0KRT1, KRT10
24thymus mucoepidermoid carcinoma10.0KRT1, KRT10
25familial acute necrotizing encephalopathy10.0KRT10, KRT16
26secondary corneal edema10.0KRT10, KRT16
27colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0KRT1, KRT10
28distal arthrogryposis10.0KRT10, KRT16
29cole-carpenter syndrome 19.9KRT1, KRT10
30intraocular retinoblastoma9.9KRT1, KRT10
31skin atrophy9.9KRT1, KRT10, KRT16
32pachyonychia congenita 29.9KRT10, KRT16, KRT9
33erdheim-chester disease9.9KRT1, KRT10, KRT9
34ciliary dyskinesia, primary, 1, with or without situs inversus9.9KRT1, KRT10, KRT9
35squamous cell carcinoma9.9KRT1, KRT10, KRT9
36vascular dementia9.9KRT10, KRT16
37richter's syndrome9.9KRT1, KRT10, LOR
38malignant spindle cell melanoma9.8DSG1, KRT10, KRT16
39mast-cell leukemia9.8KRT10, KRT16
40breast leiomyoma9.8CTSC, KRT10, KRT9
41scott syndrome9.8KRT1, KRT10, KRT16, KRT9
42epidermolysis bullosa simplex-mp9.8KRT1, KRT10, KRT16, KRT9
43ichthyosis histrix, curth-macklin type9.6KRT1, KRT10, KRT16, KRT9, LOR
44solitary bone cyst9.2DSG1, GJB3, KRT1, KRT10, KRT16, KRT9
45keratosis palmoplantaris striata iii8.9CTSC, DSG1, GJB3, KRT1, KRT10, KRT16
46carotid artery thrombosis8.9CTSC, 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

About this section

Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

600962

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

 64
id Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma64 HP:0007404

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acitretinapproved3055079-83-96437841, 5284513
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-[2,3,6-trimethyl-4-(methyloxy)phenyl]nona-2,4,6,8-tetraenoic acid
(2E,4E,6E,8E)-9-(4-methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
(all-E)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
(all-e)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
13-cis-Acitretin
44707_FLUKA
44707_SIGMA
54757-46-9
55079-83-9
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
AC-4702
AC1NR4LJ
AC1Q5T6I
Acetretin
Acitretin
Acitretin (USAN/INN)
Acitretin [USAN:INN:BAN]
Acitretina
Acitretina [Spanish]
Acitretine
Acitretine [French]
Acitretinum
Acitretinum [Latin]
BIDD:GT0617
Bio-0002
CCRIS 5534
CHEBI:50173
CHEMBL1131
CID5284513
CPD000499573
 
D02754
EINECS 259-474-4
Etretin
FT-0082892
HSDB 7187
Isoacitretin
Isoetretin
LS-96920
MLS001076667
MolPort-003-925-892
NCGC00163127-01
NCGC00163127-02
Neotigason
Retinoid etretin
Ro 10-1670
Ro 10-1670/000
Ro 13-7652
Ro-10-1670
Ro-10-1670/000
Ro-13-7652
S1368_Selleck
SAM002589973
SBB064171
SMR000499573
Soriatane
Soriatane (TN)
Soriatane, Acitretin
Spectrum5_002065
TMMP
U0279
UNII-LCH760E9T7
all-trans-3,7-Dimethyl-9-(4-methoxy-2,3,6-trimethylphenyl)-2,4,6,8-nonatetraenoic acid
all-trans-Acitretin
2Interferon-gamma152
3interferons2175
4Contraceptives, Oral1327
5Contraceptive Agents1967
6Dermatologic Agents5806
7Keratolytic Agents444

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660
2Cytokines in Papillon-Lefèvre SyndromeCompletedNCT01116934

Search NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic


Cochrane evidence based reviews: keratoderma, palmoplantar, diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

About this section

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic27

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

About this section

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

36
Skin

FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

17
Palms, Soles

Publications for Palmoplantar Keratoderma, Nonepidermolytic

About this section

Variations for Palmoplantar Keratoderma, Nonepidermolytic

About this section

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

70
id Symbol AA change Variation ID SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Clinvar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT1NM_ 006121.3(KRT1): c.221A> T (p.Lys74Ile)SNVPathogenicrs57977969GRCh37Chr 12, 53073912: 53073912
2KRT1KRT1, IVS1, T-A, +2SNVPathogenic
3KRT1KRT1, 24-BP DEL, NT1376deletionPathogenic

Expression for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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

Pathways for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.1DSG1, KRT10
2
Show member pathways
7.5DSG1, KRT1, KRT10, KRT16, KRT9, LOR
3
Show member pathways
7.5DSG1, KRT1, KRT10, KRT16, KRT9, LOR

GO Terms for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.1DSG1, KRT1, KRT10, LOR
2intermediate filamentGO:00058828.5KRT1, KRT10, KRT16, KRT9
3extracellular exosomeGO:00700628.0CTSC, DSG1, KRT1, KRT10, KRT16, KRT9

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:006143610.4KRT1, KRT16
2skin developmentGO:00435889.8GJB3, KRT9
3neutrophil degranulationGO:00433129.5CTSC, DSG1, KRT1
4keratinocyte differentiationGO:00302169.5KRT10, KRT16, LOR
5peptide cross-linkingGO:00181499.3KRT1, KRT10, LOR
6skin epidermis developmentGO:00987738.9KRT1, KRT10, LOR
7cornificationGO:00702688.2DSG1, KRT1, KRT10, KRT16, KRT9, LOR
8keratinizationGO:00314248.2DSG1, KRT1, KRT10, KRT16, KRT9, LOR

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.8KRT16, KRT9, LOR
2structural constituent of epidermisGO:00302809.4KRT1, KRT10, LOR
3structural molecule activityGO:00051989.3KRT1, KRT16, LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet