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 57 75 13
Keratosis Palmoplantaris Striata 3 53 29 6 73
Ppks3 57 53 75
Striate Palmoplantar Keratoderma Iii 57 75
Sppk3 57 75
Keratoderma, Palmoplantar, Striate Form Iii; Kpps3 57
Striate Palmoplantar Keratoderma Iii; Sppk3 57
Keratoderma, Palmoplantar, Striate Form Iii 57
Keratosis Palmoplantaris Striata, Type 3 40
Keratoderma Palmoplantar Striate Form 3 53
Keratoderma, Palmoplantar, Striate 3 75
Striate Palmoplantar Keratoderma 3 53
Kpps3 57

Characteristics:

HPO:

32
keratosis palmoplantaris striata iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607654
MeSH 44 D007645
SNOMED-CT via HPO 69 263681008 706885006
UMLS 73 C2931123

Summaries for Keratosis Palmoplantaris Striata Iii

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include skin, and related phenotype is palmoplantar keratoderma.

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:

32
# 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:

# Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata 3 29 KRT1

Anatomical Context for Keratosis Palmoplantaris Striata Iii

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Iii:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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