MCID: PLM136
MIFTS: 45

Palmoplantar Keratoderma, Nonepidermolytic malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 47Novoseek, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 49 11 65
Nonepidermolytic Palmoplantar Keratoderma 10 12 24 67
Tylosis 10 45 67
Neppk 51 47 67
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 45 65
Keratoderma, Palmoplantar, Diffuse 65 36
Hyperkeratosis 65 47
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 51
Diffuse Nonepidermolytic Palmomplantar Keratoderma 10
Focal Non Epidermolytic Palmoplantar Keratoderma 45
 
Keratoderma, Palmoplantar, Non-Epidermolytic 67
Non-Epidermolytic Palmoplantar Keratoderma 51
Non-Epidermolytic Unna-Thost Disease 67
Nonepidermolytic Unna-Thost Disease 67
Unna-Thost Syndrome 10
Thost-Unna Syndrome 10
Early Onset Tylosis 45
Late Onset Tylosis 45
Familial Tylosis 45


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
neppk:
Inheritance: Autosomal dominant


External Ids:

OMIM49 600962
Disease Ontology10 DOID:0050428
Orphanet51 2337
ICD10 via Orphanet28 Q82.8
MedGen34 C1833030

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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UniProtKB/Swiss-Prot:67 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, epidermolytic and ichthyosis bullosa of siemens, and has symptoms including palmoplantar hyperkeratosis/keratoderma, autosomal dominant inheritance and autosomal recessive inheritance. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1, Type II), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include palms, soles and skin, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:10 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

Description from OMIM:49 600962

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

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

(show top 50)    (show all 431)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic30.7KRT1, KRT16, KRT17, KRT9
2ichthyosis bullosa of siemens30.6KRT1, KRT10
3ichthyosis, cyclic, with epidermolytic hyperkeratosis30.6KRT1, KRT10, KRT16, KRT9
4erythrokeratodermia variabilis et progressiva30.6GJB2, GJB3, LOR
5ichthyosis histrix, curth-macklin type30.5KRT1, KRT16, KRT9
6epidermolytic hyperkeratosis30.4AQP5, FLG, KRT1, KRT10, KRT16, KRT17
7epidermolysis bullosa simplex, dowling-meara type30.4KRT10, KRT14
8ichthyosis, autosomal recessive 4b30.1FLG, TGM1
9monilethrix30.0KRT16, KRT17, KRT9, TGM1
10oculodentodigital dysplasia29.9GJB2, GJB3, LOR
11bart-pumphrey syndrome29.7GJB2, LOR, TGM1
12ichthyosis vulgaris29.6FLG, KRT1, KRT14, LOR, TGM1
13pili torti29.4KRT1, KRT10, KRT14, KRT16, KRT17
14autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering10.7
15palmoplantar keratoderma, nonepidermolytic, focal10.7
16hyperkeratosis lenticularis perstans10.7
17palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.6
18palmoplantar keratoderma, nonepidermolytic, focal 210.6
19tylosis with esophageal cancer10.6
20cardiomyopathy10.6
21focal palmoplantar keratoderma10.5
22focal acral hyperkeratosis10.5
23ichthyosis10.4
24naxos disease10.4
25palmoplantar keratoderma and woolly hair10.4
26arrhythmogenic right ventricular cardiomyopathy10.4
27unna-thost palmoplantar keratoderma10.4
28periodontosis10.4
29papillon-lefevre syndrome10.3
30esophagitis10.3
31keratoderma, palmoplantar, with deafness10.3
32frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3KRT1, KRT10
33palmoplantar keratosis10.3
34vulvar clear cell hidradenocarcinoma10.3KRT1, KRT10
35palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.3
36palmoplantar keratoderma, nagashima type10.3
37hyperkeratosis-hyperpigmentation syndrome10.3
38keratosis palmoplantaris striata iii10.2KRT1, KRT16, KRT9
39lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.2GJB2, GJB3
40pityriasis rubra pilaris10.2
41congenital ichthyosiform erythroderma10.2
42epidermolysis bullosa10.2
43keratosis10.2
44nonsyndromic hearing loss and deafness, mitochondrial10.2GJB2, GJB3
45deafness, autosomal recessive 1a10.2GJB2, GJB3
46hemangioma, hereditary10.2GJB2, GJB3
47kienbock's disease10.2GJB2, GJB3
48esophageal cancer10.2
49diffuse idiopathic skeletal hyperostosis10.2
50leukoplakia10.2

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



Diseases related to palmoplantar keratoderma, nonepidermolytic

Symptoms for Palmoplantar Keratoderma, Nonepidermolytic

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Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

600962

Symptoms:

 51 (show all 8)
  • palmoplantar hyperkeratosis/keratoderma
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • pruritus/itching

HPO human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nonepidermolytic palmoplantar keratoderma HP:0007404

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acitretinapproved2955079-83-96437841, 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

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

Search NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic


Cochrane evidence based reviews: Keratoderma, Palmoplantar, Diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

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Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic24

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

33
Skin

FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

16
Palms, Soles

Animal Models for Palmoplantar Keratoderma, Nonepidermolytic or affiliated genes

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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4KRT1, KRT14, KRT17, KRT9
2MP:00053778.9AQP5, FLG, GJB2, KRT10, KRT14
3MP:00053828.4FLG, GJB2, KRT10, KRT14, KRT16, KRT17
4MP:00053877.1CTSC, FLG, GJB2, KRT1, KRT10, KRT14
5MP:00053786.6AQP5, CTSC, FLG, GJB2, KRT1, KRT10
6MP:00107686.0AQP5, FLG, GJB2, GJB3, KRT1, KRT10
7MP:00107715.9CTSC, FLG, GJB2, GJB3, KRT1, KRT10
8MP:00053765.7AQP5, CTSC, FLG, GJB2, GJB3, KRT1

Publications for Palmoplantar Keratoderma, Nonepidermolytic

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Variations for Palmoplantar Keratoderma, Nonepidermolytic

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

67
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)single nucleotide variantPathogenicrs57977969GRCh37Chr 12, 53073912: 53073912
2KRT1KRT1, IVS1, T-A, +2single nucleotide variantPathogenic
3KRT1KRT1, 24-BP DEL, NT1376deletionPathogenic
4NM_001651.3(AQP5): c.113C> A (p.Ala38Glu)single nucleotide variantPathogenicrs398123054GRCh37Chr 12, 50355913: 50355913
5AQP5NM_001651.3(AQP5): c.562C> T (p.Arg188Cys)single nucleotide variantPathogenicrs368292687GRCh37Chr 12, 50357908: 50357908
6NM_001651.3(AQP5): c.134T> G (p.Ile45Ser)single nucleotide variantPathogenicrs398123055GRCh37Chr 12, 50355934: 50355934
7AQP5NM_001651.3(AQP5): c.529A> T (p.Ile177Phe)single nucleotide variantPathogenicrs398123056GRCh37Chr 12, 50357875: 50357875
8AQP5NM_001651.3(AQP5): c.367A> G (p.Asn123Asp)single nucleotide variantPathogenicrs398123057GRCh37Chr 12, 50357278: 50357278

Expression for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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

Pathways for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9KRT1, KRT14, KRT16, KRT17

GO Terms for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:000592210.4GJB2, GJB3
2keratin filamentGO:004509510.0KRT1, KRT10, KRT14
3gap junctionGO:00059219.9GJB2, GJB3
4intermediate filamentGO:00058828.6FLG, KRT1, KRT10, KRT14, KRT16, KRT17
5extracellular exosomeGO:00700626.7AQP5, CTSC, DSG1, KRT1, KRT10, KRT14

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.2KRT14, KRT16
2establishment of skin barrierGO:006143610.2FLG, KRT1, KRT16
3intermediate filament organizationGO:004510910.1KRT17, KRT9
4response to progesteroneGO:003257010.0DSG1, GJB2
5morphogenesis of an epitheliumGO:00020099.9KRT16, KRT17
6agingGO:00075689.2CTSC, KRT14, KRT16
7epidermis developmentGO:00085449.0KRT14, KRT16, KRT17, KRT9
8keratinizationGO:00314249.0KRT16, KRT17, LOR, TGM1
9keratinocyte differentiationGO:00302168.6FLG, KRT10, KRT16, LOR, TGM1

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.2GJB2, GJB3
2structural constituent of cytoskeletonGO:00052008.7KRT14, KRT16, KRT17, KRT9, LOR
3structural molecule activityGO:00051987.5FLG, KRT1, KRT10, KRT14, KRT16, KRT17

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet