KPI
MCID: KRT077
MIFTS: 19

Keratinopathic Ichthyosis (KPI)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Keratinopathic Ichthyosis

MalaCards integrated aliases for Keratinopathic Ichthyosis:

Name: Keratinopathic Ichthyosis 58
Kpi 58

Characteristics:

Orphanet epidemiological data:

58
keratinopathic ichthyosis
Prevalence: 1-9/1000000 (France);

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 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 and testes.

Related Diseases for Keratinopathic Ichthyosis

Diseases related to Keratinopathic Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ichthyosis bullosa of siemens 31.1 KRT2 KRT10 KRT1
2 ichthyosis 29.6 KRT2 KRT10 KRT1
3 ichthyosis hystrix, curth-macklin type 11.6
4 spasticity 10.3
5 alzheimer disease 10.2
6 ovarian cancer 10.2
7 cervical cancer 10.2
8 inflammatory bowel disease 10.2
9 ulcerative colitis 10.2
10 crohn's disease 10.2
11 allergic encephalomyelitis 10.2
12 skin disease 9.7 KRT10 KRT1
13 keratosis 9.6 KRT10 KRT1
14 erythroderma, ichthyosiform, congenital reticular 9.6 KRT10 KRT1
15 striate palmoplantar keratoderma 9.6 KRT10 KRT1
16 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.6 KRT10 KRT1
17 autosomal dominant epidermolytic ichthyosis 9.6 KRT10 KRT1
18 skin papilloma 9.6 KRT10 KRT1
19 papilloma 9.6 KRT10 KRT1
20 ichthyosis vulgaris 9.5 KRT10 KRT1
21 nevus, epidermal 9.5 KRT10 KRT1
22 epidermolysis bullosa 9.5 KRT10 KRT1
23 epidermolysis bullosa simplex 9.5 KRT10 KRT1
24 skin squamous cell carcinoma 9.4 KRT10 KRT1
25 lichen planus 9.4 KRT10 KRT1
26 dyskeratosis congenita 9.3 KRT10 KRT1
27 epidermolytic acanthoma 9.3 KRT2 KRT10 KRT1
28 white sponge nevus 1 9.3 KRT2 KRT10 KRT1
29 vesiculobullous skin disease 9.3 KRT2 KRT10 KRT1
30 pachyonychia congenita 1 9.3 KRT2 KRT10 KRT1
31 palmoplantar keratoderma, epidermolytic 9.3 KRT2 KRT10 KRT1
32 palmoplantar keratosis 9.2 KRT2 KRT10 KRT1
33 epidermolytic hyperkeratosis 9.2 KRT2 KRT10 KRT1
34 autosomal recessive congenital ichthyosis 9.2 KRT2 KRT10 KRT1
35 basal cell carcinoma 9.2 KRT10 KRT1

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:

40
Skin, Testes

Publications for Keratinopathic Ichthyosis

Articles related to Keratinopathic Ichthyosis:

(show all 13)
# Title Authors PMID Year
1
Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. 61
31953843 2020
2
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. 61
31642606 2020
3
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. 61
30288772 2019
4
Cryptotanshinone from Salvia miltiorrhiza Roots Reduces Cytokeratin CK1/10 Expression in Keratinocytes by Activation of Peptidyl-prolyl-cis-trans-isomerase FKBP1A. 61
30036889 2019
5
Inherited ichthyoses: molecular causes of the disease in Czech patients. 61
31046801 2019
6
Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis. 61
27349861 2016
7
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. 61
26581228 2016
8
Inherited ichthyosis: Non-syndromic forms. 61
26945532 2016
9
Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. 61
22716242 2012
10
Keratin gene mutations in disorders of human skin and its appendages. 61
21176769 2011
11
[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification]. 61
20827455 2010
12
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 61
20643494 2010
13
Ichthyosis: clinical manifestations and practical treatment options. 61
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 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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