MCID: KRT018
MIFTS: 16

Keratosis Palmoplantaris Striata Iii

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Iii

MalaCards integrated aliases for Keratosis Palmoplantaris Striata Iii:

Name: Keratosis Palmoplantaris Striata Iii 53 71 13
Keratosis Palmoplantaris Striata 3 49 28 69
Ppks3 53 49 71
Striate Palmoplantar Keratoderma Iii 53 71
Sppk3 53 71
Keratoderma, Palmoplantar, Striate Form Iii; Kpps3 53
Striate Palmoplantar Keratoderma Iii; Sppk3 53
Keratoderma, Palmoplantar, Striate Form Iii 53
Keratoderma Palmoplantar Striate Form 3 49
Keratoderma, Palmoplantar, Striate 3 71
Striate Palmoplantar Keratoderma 3 49
Kpps3 53

Characteristics:

HPO:

31
keratosis palmoplantaris striata iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 607654
MeSH 41 D007645
SNOMED-CT via HPO 65 263681008 706885006
UMLS 69 C2931123

Summaries for Keratosis Palmoplantaris Striata Iii

UniProtKB/Swiss-Prot : 71 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, is also known as keratosis palmoplantaris striata 3, 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

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Iii

Clinical features from OMIM:

607654

Human phenotypes related to Keratosis Palmoplantaris Striata Iii:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 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:

# Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata 3 28 KRT1

Anatomical Context for Keratosis Palmoplantaris Striata Iii

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

38
Skin

Publications for Keratosis Palmoplantaris Striata Iii

Variations for Keratosis Palmoplantaris Striata Iii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Iii:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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