SPPK3
MCID: KRT018
MIFTS: 18

Keratosis Palmoplantaris Striata Iii (SPPK3) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Iii

Aliases & Descriptions for Keratosis Palmoplantaris Striata Iii:

Name: Keratosis Palmoplantaris Striata Iii 54 66 13
Keratosis Palmoplantaris Striata 3 50 29 69
Ppks3 50 66
Keratoderma Palmoplantar Striate Form 3 50
Keratoderma, Palmoplantar, Striate 3 66
Striate Palmoplantar Keratoderma Iii 66
Striate Palmoplantar Keratoderma 3 50
Sppk3 66

Characteristics:

HPO:

32
keratosis palmoplantaris striata iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 607654
MeSH 42 D007645

Summaries for Keratosis Palmoplantaris Striata Iii

UniProtKB/Swiss-Prot : 66 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: 607654

Related Diseases for Keratosis Palmoplantaris Striata Iii

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:

id Related Disease Score Top Affiliating Genes
1 keratosis palmoplantaris striata i, ad 10.9

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Iii

Clinical features from OMIM:

607654

Human phenotypes related to Keratosis Palmoplantaris Striata Iii:

32
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982

Drugs & Therapeutics for Keratosis Palmoplantaris Striata Iii

Search Clinical Trials , NIH Clinical Center for Keratosis Palmoplantaris Striata Iii

Genetic Tests for Keratosis Palmoplantaris Striata Iii

Genetic tests related to Keratosis Palmoplantaris Striata Iii:

id Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata 3 29

Anatomical Context for Keratosis Palmoplantaris Striata Iii

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

39
Skin

Publications for Keratosis Palmoplantaris Striata Iii

Variations for Keratosis Palmoplantaris Striata Iii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Iii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 KRT1, 1-BP DEL, 1628G deletion Pathogenic

Expression for Keratosis Palmoplantaris Striata Iii

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

Pathways for Keratosis Palmoplantaris Striata Iii

GO Terms for Keratosis Palmoplantaris Striata Iii

Sources for Keratosis Palmoplantaris Striata Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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