MCID: KRT018
MIFTS: 25

Keratosis Palmoplantaris Striata Iii malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Iii

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Aliases & Descriptions for Keratosis Palmoplantaris Striata Iii:

Name: Keratosis Palmoplantaris Striata Iii 50 68 12
Keratosis Palmoplantaris Striata 3 46 25 66
Ppks3 46 68
Keratoderma Palmoplantar Striate Form 3 46
 
Striate Palmoplantar Keratoderma Iii 68
Keratoderma, Palmoplantar, Striate 3 68
Striate Palmoplantar Keratoderma 3 46
Sppk3 68

Characteristics:

HPO:

62
keratosis palmoplantaris striata iii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 607654
MeSH37 D007645

Summaries for Keratosis Palmoplantaris Striata Iii

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UniProtKB/Swiss-Prot:68 Keratoderma, palmoplantar, striate 3: A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal.

MalaCards based summary: Keratosis Palmoplantaris Striata Iii, also known as keratosis palmoplantaris striata 3, is related to keratosis palmoplantaris striata i, ad and palmoplantar keratoderma, nonepidermolytic, and has symptoms including palmoplantar keratoderma An important gene associated with Keratosis Palmoplantaris Striata Iii is KRT1 (Keratin 1), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin.

Description from OMIM:50 607654

Related Diseases for Keratosis Palmoplantaris Striata Iii

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Graphical network of diseases related to Keratosis Palmoplantaris Striata Iii:



Diseases related to keratosis palmoplantaris striata iii

Symptoms for Keratosis Palmoplantaris Striata Iii

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Clinical features from OMIM:

607654

HPO human phenotypes related to Keratosis Palmoplantaris Striata Iii:

id Description Frequency HPO Source Accession
1 palmoplantar keratoderma HP:0000982

Drugs & Therapeutics for Keratosis Palmoplantaris Striata Iii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Palmoplantaris Striata Iii

Genetic Tests for Keratosis Palmoplantaris Striata Iii

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Genetic tests related to Keratosis Palmoplantaris Striata Iii:

id Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata 325

Anatomical Context for Keratosis Palmoplantaris Striata Iii

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MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

34
Skin

Animal Models for Keratosis Palmoplantaris Striata Iii or affiliated genes

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Publications for Keratosis Palmoplantaris Striata Iii

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Variations for Keratosis Palmoplantaris Striata Iii

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Clinvar genetic disease variations for Keratosis Palmoplantaris Striata Iii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT1KRT1, 1-BP DEL, 1628GdeletionPathogenic

Expression for genes affiliated with Keratosis Palmoplantaris Striata Iii

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Search GEO for disease gene expression data for Keratosis Palmoplantaris Striata Iii.

Pathways for genes affiliated with Keratosis Palmoplantaris Striata Iii

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Pathways related to Keratosis Palmoplantaris Striata Iii according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1KRT1, KRT16

GO Terms for genes affiliated with Keratosis Palmoplantaris Striata Iii

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Cellular components related to Keratosis Palmoplantaris Striata Iii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.1KRT1, KRT16

Biological processes related to Keratosis Palmoplantaris Striata Iii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.1KRT1, KRT16

Sources for Keratosis Palmoplantaris Striata Iii

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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