MCID: KRT018
MIFTS: 22

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 49 11 67
Keratosis Palmoplantaris Striata 3 45 24 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

Characteristics:

HPO:

61
keratosis palmoplantaris striata iii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 607654
MeSH36 D007645
UMLS65 C2931123

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 palmoplantar keratoderma, nonepidermolytic, and has symptoms including palmoplantar keratoderma An important gene associated with Keratosis Palmoplantaris Striata Iii is KRT1 (Keratin 1). Affiliated tissues include skin, breast and small intestine.

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 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, Breast, Small intestine

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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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
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