MCID: KRT018
MIFTS: 18

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 52 70 12
Keratosis Palmoplantaris Striata 3 48 27 68
Ppks3 48 70
Keratoderma Palmoplantar Striate Form 3 48
 
Keratoderma, Palmoplantar, Striate 3 70
Striate Palmoplantar Keratoderma Iii 70
Striate Palmoplantar Keratoderma 3 48
Sppk3 70

Characteristics:

HPO:

64
keratosis palmoplantaris striata iii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 607654
MeSH39 D007645

Summaries for Keratosis Palmoplantaris Striata Iii

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UniProtKB/Swiss-Prot:70 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 has symptoms including palmoplantar keratoderma An important gene associated with Keratosis Palmoplantaris Striata Iii is KRT1 (Keratin 1). Affiliated tissues include skin.

Description from OMIM:52 607654

Related Diseases for Keratosis Palmoplantaris Striata Iii

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Diseases in the Keratosis Palmoplantaris Striata family:

Keratosis Palmoplantaris Striata Ii keratosis palmoplantaris striata iii
Keratosis Palmoplantaris Striata I, Ad

Diseases related to Keratosis Palmoplantaris Striata Iii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratosis palmoplantaris striata i, ad10.9

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Iii

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Clinical features from OMIM:

607654

Human phenotypes related to Keratosis Palmoplantaris Striata Iii:

 64
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma64 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 327

Anatomical Context for Keratosis Palmoplantaris Striata Iii

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MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

36
Skin

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, 1628GdeletionPathogenicChr na, -1: -1

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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GO Terms for genes affiliated with Keratosis Palmoplantaris Striata Iii

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Sources for Keratosis Palmoplantaris Striata Iii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet