MCID: PLM136
MIFTS: 37

Palmoplantar Keratoderma, Nonepidermolytic malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

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Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 51 12 67
Nonepidermolytic Palmoplantar Keratoderma 11 69 26 13
Tylosis 11 47 69
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 47 67
Keratoderma, Palmoplantar, Diffuse 38 67
Unna-Thost Syndrome 11 67
Diffuse Nonepidermolytic Palmomplantar Keratoderma 11
Focal Non Epidermolytic Palmoplantar Keratoderma 47
Keratoderma, Palmoplantar, Non-Epidermolytic 69
Non-Epidermolytic Unna-Thost Disease 69
 
Nonepidermolytic Unna-Thost Disease 69
Thost-Unna Syndrome 11
Early Onset Tylosis 47
Late Onset Tylosis 47
Familial Tylosis 47
Hyperkeratosis 67
Type B Tylosis 67
Type a Tylosis 67
Neppk 69

Characteristics:

HPO:

63
palmoplantar keratoderma, nonepidermolytic:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 600962
Disease Ontology11 DOID:0050428
NCIt44 C3147
MedGen36 C1833030

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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UniProtKB/Swiss-Prot:69 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 tylosis with esophageal cancer, 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 Cytoskeleton remodeling Neurofilaments and Staphylococcus aureus infection. 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.

Description from OMIM:51 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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic32.2KRT1, KRT16, KRT9, LOR
2tylosis with esophageal cancer12.3
3palmoplantar keratoderma, nonepidermolytic, focal or diffuse12.2
4palmoplantar keratoderma, nonepidermolytic, focal12.2
5palmoplantar keratoderma, nonepidermolytic, focal 212.1
6ankylosing vertebral hyperostosis with tylosis12.0
7ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis, included11.8
8nonepidermolytic palmoplantar hyperkeratosis11.3
9palmoplantar keratoderma, bothnian type11.1
10palmoplantar keratosis11.0
11white sponge nevus 110.4KRT1, KRT16
12acute poisoning by drugs with membrane-stabilizing effect10.3DSG1, KRT1
13ichthyosis vulgaris10.2KRT1, LOR
14rectosigmoid junction neoplasm10.2KRT16, LOR
15bradyopsia10.2KRT1, KRT10
16brachydactyly type a310.2KRT1, KRT10
17malignant cystic nephroma10.2KRT1, KRT10
18pseudohermaphrodism anorectal anomalies10.2GJB3, LOR
19hemoglobin d disease10.1KRT1, KRT10
20telangiectasia, hereditary hemorrhagic, type 210.1KRT1, KRT10
21freemartinism10.1KRT1, KRT10
22craniodiaphyseal dysplasia, autosomal dominant10.1KRT10, KRT16
23colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.1KRT1, KRT10
24keratosis palmoplantaris striata iii10.1KRT1, KRT16, KRT9
25complex lethal osteochondrodysplasia10.1KRT10, KRT16
26hypertrophic or verrucous lupus erythematosus10.1KRT10, KRT16
27syndactyly, type iii10.0GJB3, LOR
28erythrokeratodermia variabilis et progressiva10.0GJB3, LOR
29ectodermal dysplasia 4, hair/nail type9.9KRT16, KRT9
30bullous keratopathy9.9KRT10, KRT16
31ebola hemorrhagic fever9.9KRT1, KRT10, KRT9
32subacute monocytic leukemia9.9KRT10, KRT16
33ichthyosis histrix, curth-macklin type9.9KRT1, KRT10, KRT16
34familial retinoblastoma9.8KRT1, KRT10, KRT16
35cole-carpenter syndrome 19.8KRT10, KRT16
36lissencephaly9.8KRT10, KRT16, KRT9
37steroid inherited metabolic disorder9.8KRT1, KRT10, LOR
38lipomatosis9.7DSG1, KRT10, KRT16
39kidney hemangiopericytoma9.6KRT1, KRT10
40epidermolysis bullosa simplex, dowling-meara type9.5KRT1, KRT10, KRT16, KRT9
41histiocytosis9.4CTSC, KRT1, KRT16, KRT9
42breast fibroadenoma9.2CTSC, KRT1, KRT10, KRT9
43ichthyosis, cyclic, with epidermolytic hyperkeratosis9.2KRT1, KRT10, KRT16, KRT9, LOR
44small non-cleaved cell lymphoma8.9DSG1, GJB3, KRT1, KRT10, LOR

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

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

 63
id Description HPO Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma63 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):

(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-gamma145
3interferons2137
4Contraceptives, Oral1292
5Contraceptive Agents1901
6Dermatologic Agents5674
7Keratolytic Agents420

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

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Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic26

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

35
Skin

FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

17
Palms, Soles

Animal Models for Palmoplantar Keratoderma, Nonepidermolytic or affiliated genes

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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:

69
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, +2SNVPathogenicChr na, -1: -1
3KRT1KRT1, 24-BP DEL, NT1376deletionPathogenicChr na, -1: -1

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7KRT1, KRT16
29.3DSG1, KRT10

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
1intermediate filamentGO:00058829.5KRT10, KRT16, KRT9
2extracellular exosomeGO:00700627.4CTSC, DSG1, KRT1, KRT10, KRT16, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1keratinizationGO:00314249.9KRT16, LOR
2establishment of skin barrierGO:00614369.8KRT1, KRT16
3skin developmentGO:00435889.6GJB3, KRT9
4epidermis developmentGO:00085449.4KRT16, KRT9
5keratinocyte differentiationGO:00302169.1KRT10, KRT16, LOR

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:00302809.9KRT10, LOR
2structural constituent of cytoskeletonGO:00052009.2KRT16, KRT9, LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet