KPI
MCID: KRT077
MIFTS: 18

Keratinopathic Ichthyosis (KPI)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Keratinopathic Ichthyosis

MalaCards integrated aliases for Keratinopathic Ichthyosis:

Name: Keratinopathic Ichthyosis 59
Kpi 59

Characteristics:

Orphanet epidemiological data:

59
keratinopathic ichthyosis
Prevalence: 1-9/1000000 (France);

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA281103

Summaries for Keratinopathic Ichthyosis

MalaCards based summary : Keratinopathic Ichthyosis, also known as kpi, is related to ichthyosis bullosa of siemens and ichthyosis. An important gene associated with Keratinopathic Ichthyosis is KRT1 (Keratin 1), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin.

Related Diseases for Keratinopathic Ichthyosis

Graphical network of the top 20 diseases related to Keratinopathic Ichthyosis:



Diseases related to Keratinopathic Ichthyosis

Symptoms & Phenotypes for Keratinopathic Ichthyosis

Drugs & Therapeutics for Keratinopathic Ichthyosis

Search Clinical Trials , NIH Clinical Center for Keratinopathic Ichthyosis

Genetic Tests for Keratinopathic Ichthyosis

Anatomical Context for Keratinopathic Ichthyosis

MalaCards organs/tissues related to Keratinopathic Ichthyosis:

41
Skin

Publications for Keratinopathic Ichthyosis

Articles related to Keratinopathic Ichthyosis:

(show all 11)
# Title Authors PMID Year
1
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. 38
30288772 2019
2
Cryptotanshinone from Salvia miltiorrhiza Roots Reduces Cytokeratin CK1/10 Expression in Keratinocytes by Activation of Peptidyl-prolyl-cis-trans-isomerase FKBP1A. 38
30036889 2019
3
Inherited ichthyoses: molecular causes of the disease in Czech patients. 38
31046801 2019
4
Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis. 38
27349861 2016
5
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. 38
26581228 2016
6
Inherited ichthyosis: Non-syndromic forms. 38
26945532 2016
7
Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. 38
22716242 2012
8
Keratin gene mutations in disorders of human skin and its appendages. 38
21176769 2011
9
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 38
20643494 2010
10
[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification]. 38
20827455 2010
11
Ichthyosis: clinical manifestations and practical treatment options. 38
19824737 2009

Variations for Keratinopathic Ichthyosis

Expression for Keratinopathic Ichthyosis

Search GEO for disease gene expression data for Keratinopathic Ichthyosis.

Pathways for Keratinopathic Ichthyosis

Pathways related to Keratinopathic Ichthyosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 KRT2 KRT10 KRT1
2
Show member pathways
11.25 KRT2 KRT10 KRT1
3
Show member pathways
10.99 KRT2 KRT1

GO Terms for Keratinopathic Ichthyosis

Cellular components related to Keratinopathic Ichthyosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.5 KRT2 KRT10 KRT1
2 extracellular space GO:0005615 9.43 KRT2 KRT10 KRT1
3 keratin filament GO:0045095 9.16 KRT2 KRT1
4 intermediate filament GO:0005882 9.13 KRT2 KRT10 KRT1
5 cornified envelope GO:0001533 8.8 KRT2 KRT10 KRT1

Biological processes related to Keratinopathic Ichthyosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT2 KRT10 KRT1
2 cornification GO:0070268 9.33 KRT2 KRT10 KRT1
3 protein heterotetramerization GO:0051290 9.32 KRT10 KRT1
4 positive regulation of epidermis development GO:0045684 8.96 KRT2 KRT10
5 peptide cross-linking GO:0018149 8.8 KRT2 KRT10 KRT1

Molecular functions related to Keratinopathic Ichthyosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT2 KRT10
2 structural constituent of epidermis GO:0030280 8.8 KRT2 KRT10 KRT1

Sources for Keratinopathic Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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