MCID: KRT018
MIFTS: 26

Keratosis Palmoplantaris Striata Iii malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Keratosis Palmoplantaris Striata Iii

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Aliases & Descriptions for Keratosis Palmoplantaris Striata Iii:

Name: Keratosis Palmoplantaris Striata Iii 49 11 67
Keratosis Palmoplantaris Striata 3 45 65
Ppks3 45 67
Keratoderma Palmoplantar Striate Form 3 45
 
Keratoderma, Palmoplantar, Striate 3 67
Striate Palmoplantar Keratoderma Iii 67
Striate Palmoplantar Keratoderma 3 45
Sppk3 67


Classifications:



External Ids:

OMIM49 607654
MeSH36 D007645

Summaries for Keratosis Palmoplantaris Striata Iii

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UniProtKB/Swiss-Prot:67 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 pili torti, and has symptoms including autosomal dominant inheritanceand palmoplantar keratoderma. An important gene associated with Keratosis Palmoplantaris Striata Iii is KRT1 (Keratin 1, Type II), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:49 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 autosomal dominant inheritance HP:0000006
2 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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Anatomical Context for Keratosis Palmoplantaris Striata Iii

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MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

33
Skin

Animal Models for Keratosis Palmoplantaris Striata Iii or affiliated genes

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MGI Mouse Phenotypes related to Keratosis Palmoplantaris Striata Iii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT1, KRT9
2MP:00107718.5KRT1, KRT16, KRT9

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KRT1, 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:00058569.3KRT1, KRT16
2intermediate filamentGO:00058828.8KRT1, KRT16, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.7KRT1, KRT16
2epidermis developmentGO:00085449.1KRT16, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.1KRT16, KRT9
2structural molecule activityGO:00051988.2KRT1, KRT16, KRT9

Sources for Keratosis Palmoplantaris Striata Iii

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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