MCID: PLM136
MIFTS: 38

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 50 12 66
Nonepidermolytic Palmoplantar Keratoderma 11 13 68 25
Tylosis 11 46 68
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 46 66
Keratoderma, Palmoplantar, Diffuse 37 66
Diffuse Nonepidermolytic Palmomplantar Keratoderma 11
Focal Non Epidermolytic Palmoplantar Keratoderma 46
Keratoderma, Palmoplantar, Non-Epidermolytic 68
Non-Epidermolytic Unna-Thost Disease 68
 
Nonepidermolytic Unna-Thost Disease 68
Early Onset Tylosis 46
Unna-Thost Syndrome 11
Thost-Unna Syndrome 11
Late Onset Tylosis 46
Familial Tylosis 46
Hyperkeratosis 66
Neppk 68

Characteristics:

HPO:

62
palmoplantar keratoderma, nonepidermolytic:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 600962
Disease Ontology11 DOID:0050428
NCIt43 C3147
MedGen35 C1833030

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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NIH Rare Diseases:46 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 palmoplantar keratoderma, epidermolytic 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 is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include palms, soles and skin, and related mouse phenotype integument.

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

UniProtKB/Swiss-Prot:68 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:50 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 28)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic25.3AQP5, DSP, HID1, KRT1, KRT16, KRT74
2palmoplantar keratoderma, nonepidermolytic, focal or diffuse12.4
3tylosis with esophageal cancer12.4
4palmoplantar keratoderma, nonepidermolytic, focal12.3
5palmoplantar keratoderma, nonepidermolytic, focal 212.2
6ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis, included12.0
7nonepidermolytic palmoplantar hyperkeratosis11.3
8palmoplantar keratoderma, bothnian type11.2
9palmoplantar keratosis11.2
10palmoplantar keratoderma, nonepidermolytic10.5KRT1, KRT16
11white sponge nevus 110.5KRT1, KRT16
12ichthyosis histrix, curth-macklin type10.4KRT1, KRT16
13ebola hemorrhagic fever10.4KRT1, KRT9
14basal cell carcinoma 410.3AQP5, KRT1
15acute poisoning by drugs with membrane-stabilizing effect10.3DSP, KRT1
16keratosis palmoplantaris striata iii10.2KRT1, KRT16, KRT9
17lissencephaly10.2KRT16, KRT9
18familial retinoblastoma10.1KRT1, KRT16
19rectosigmoid junction neoplasm10.1KRT16, LOR
20ichthyosis vulgaris10.0KRT1, LOR
21steroid inherited metabolic disorder9.9KRT1, LOR
22breast fibroadenoma9.9KRT1, KRT9
23fanconi ichthyosis dysmorphism9.7DSP, KRT74
24ectodermal dysplasia 4, hair/nail type9.6KRT16, KRT74, KRT9
25autoimmune disease of skin and connective tissue9.6DSP, KRT74
26epidermolysis bullosa simplex, dowling-meara type9.4KRT1, KRT16, KRT74, KRT9
27ichthyosis, cyclic, with epidermolytic hyperkeratosis9.1AQP5, KRT1, KRT16, KRT9, LOR
28histiocytosis8.9DSP, KRT1, KRT16, KRT74, KRT9

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

HPO human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

id Description Frequency HPO Source Accession
1 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
1interferons2112
2
Acitretin3055079-83-96437841, 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
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, Nonepidermolytic25

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

34
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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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5DSP, KRT1, KRT16, RHBDF1, RHBDF2

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:

68
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

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
9.3DSP, KRT1, KRT16

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
1cornified envelopeGO:00015339.9DSP, LOR
2intermediate filamentGO:00058829.7DSP, KRT16, KRT9
3extracellular exosomeGO:00700627.2AQP5, DSP, HID1, KRT1, KRT16, KRT74

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of epidermal growth factor receptor signaling pathwayGO:004205810.1RHBDF1, RHBDF2
2establishment of skin barrierGO:006143610.0KRT1, KRT16
3keratinizationGO:003142410.0KRT16, LOR
4protein processingGO:001648510.0RHBDF1, RHBDF2
5skin developmentGO:00435889.8DSP, KRT9
6regulation of protein secretionGO:00507089.7RHBDF1, RHBDF2
7intermediate filament organizationGO:00451099.7DSP, KRT9
8peptide cross-linkingGO:00181499.7DSP, LOR
9negative regulation of protein secretionGO:00507099.7RHBDF1, RHBDF2
10epidermis developmentGO:00085449.5DSP, KRT16, KRT9
11keratinocyte differentiationGO:00302169.4DSP, KRT16, LOR
12intermediate filament cytoskeleton organizationGO:00451049.1DSP, KRT16, KRT74

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

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:001983810.2RHBDF1, RHBDF2
2protein binding, bridgingGO:00306749.3DSP, LOR
3structural constituent of cytoskeletonGO:00052008.6DSP, KRT16, KRT9, LOR
4structural molecule activityGO:00051988.1DSP, KRT1, KRT74, LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet