PPKS3
MCID: KRT018
MIFTS: 15

Keratosis Palmoplantaris Striata Iii (PPKS3)

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 57 72 13
Keratosis Palmoplantaris Striata 3 20 29 6 70
Ppks3 57 20 72
Striate Palmoplantar Keratoderma Iii 57 72
Sppk3 57 72
Keratoderma, Palmoplantar, Striate Form Iii; Kpps3 57
Striate Palmoplantar Keratoderma Iii; Sppk3 57
Keratoderma, Palmoplantar, Striate Form Iii 57
Keratosis Palmoplantaris Striata, Type 3 39
Keratoderma Palmoplantar Striate Form 3 20
Keratoderma, Palmoplantar, Striate 3 72
Striate Palmoplantar Keratoderma 3 20
Kpps3 57

Characteristics:

HPO:

31
keratosis palmoplantaris striata iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 607654
MeSH 44 D007645
SNOMED-CT via HPO 68 263681008 706885006
UMLS 70 C2931123

Summaries for Keratosis Palmoplantaris Striata Iii

UniProtKB/Swiss-Prot : 72 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. An important gene associated with Keratosis Palmoplantaris Striata Iii is KRT1 (Keratin 1). Related phenotype is palmoplantar keratoderma.

More information from OMIM: 607654

Related Diseases for Keratosis Palmoplantaris Striata Iii

Diseases in the Keratosis Palmoplantaris Striata Ii family:

Keratosis Palmoplantaris Striata Iii

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Iii

Human phenotypes related to Keratosis Palmoplantaris Striata Iii:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 very rare (1%) HP:0000982

Clinical features from OMIM®:

607654 (Updated 20-May-2021)

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 29 KRT1

Anatomical Context for Keratosis Palmoplantaris Striata Iii

Publications for Keratosis Palmoplantaris Striata Iii

Articles related to Keratosis Palmoplantaris Striata Iii:

(showing 2, show less)
# Title Authors PMID Year
1
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. 57 6
11982762 2002
2
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. 6
11286616 2001

Variations for Keratosis Palmoplantaris Striata Iii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Iii:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT1 KRT1, 1-BP DEL, 1628G Deletion Pathogenic 15918 GRCh37:
GRCh38:

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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