MCID: KRT018
MIFTS: 18

Keratosis Palmoplantaris Striata Iii malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Iii

About this section

Aliases & Descriptions for Keratosis Palmoplantaris Striata Iii:

Name: Keratosis Palmoplantaris Striata Iii 51 69 12
Keratosis Palmoplantaris Striata 3 47 26 67
Ppks3 47 69
Keratoderma Palmoplantar Striate Form 3 47
 
Keratoderma, Palmoplantar, Striate 3 69
Striate Palmoplantar Keratoderma Iii 69
Striate Palmoplantar Keratoderma 3 47
Sppk3 69

Characteristics:

HPO:

63
keratosis palmoplantaris striata iii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 607654
MeSH38 D007645

Summaries for Keratosis Palmoplantaris Striata Iii

About this section
UniProtKB/Swiss-Prot:69 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:51 607654

Related Diseases for Keratosis Palmoplantaris Striata Iii

About this section

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 for Keratosis Palmoplantaris Striata Iii

About this section


Clinical features from OMIM:

607654

Human phenotypes related to Keratosis Palmoplantaris Striata Iii:

 63
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma63 HP:0000982

Drugs & Therapeutics for Keratosis Palmoplantaris Striata Iii

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Palmoplantaris Striata Iii

Genetic Tests for Keratosis Palmoplantaris Striata Iii

About this section

Genetic tests related to Keratosis Palmoplantaris Striata Iii:

id Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata 326

Anatomical Context for Keratosis Palmoplantaris Striata Iii

About this section

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

35
Skin

Animal Models for Keratosis Palmoplantaris Striata Iii or affiliated genes

About this section

Publications for Keratosis Palmoplantaris Striata Iii

About this section

Variations for Keratosis Palmoplantaris Striata Iii

About this section

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

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

Pathways for genes affiliated with Keratosis Palmoplantaris Striata Iii

About this section

GO Terms for genes affiliated with Keratosis Palmoplantaris Striata Iii

About this section

Sources for Keratosis Palmoplantaris Striata Iii

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet