MCID: EXF002
MIFTS: 22

Exfoliative Ichthyosis

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Exfoliative Ichthyosis

MalaCards integrated aliases for Exfoliative Ichthyosis:

Name: Exfoliative Ichthyosis 59
Ichthyosis Exfoliativa 59 6 73
Autosomal Recessive Exfoliative Ichthyosis 59

Characteristics:

Orphanet epidemiological data:

59
exfoliative ichthyosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA289586
UMLS via Orphanet 74 C1838440
ICD10 via Orphanet 34 Q80.8
UMLS 73 C1838440

Summaries for Exfoliative Ichthyosis

MalaCards based summary : Exfoliative Ichthyosis, also known as ichthyosis exfoliativa, is related to ichthyosis and ichthyosis bullosa of siemens. An important gene associated with Exfoliative Ichthyosis is KRT2 (Keratin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin.

Related Diseases for Exfoliative Ichthyosis

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

# Related Disease Score Top Affiliating Genes
1 ichthyosis 29.6 CSTA KRT2
2 ichthyosis bullosa of siemens 27.8 CSTA IGFBP6 ITGB7 KRT2 KRT5 RARG
3 peeling skin syndrome 4 11.9
4 peeling skin syndrome 10.0 CSTA SERPINB8
5 epidermolytic hyperkeratosis 9.3 KRT2 KRT5

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



Diseases related to Exfoliative Ichthyosis

Symptoms & Phenotypes for Exfoliative Ichthyosis

Drugs & Therapeutics for Exfoliative Ichthyosis

Search Clinical Trials , NIH Clinical Center for Exfoliative Ichthyosis

Genetic Tests for Exfoliative Ichthyosis

Anatomical Context for Exfoliative Ichthyosis

MalaCards organs/tissues related to Exfoliative Ichthyosis:

41
Skin

Publications for Exfoliative Ichthyosis

Articles related to Exfoliative Ichthyosis:

# Title Authors Year
1
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. ( 27476651 )
2016
2
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. ( 25400170 )
2014
3
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. ( 21944047 )
2011
4
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. ( 12890214 )
2003
5
A new variant of autosomal recessive exfoliative ichthyosis. ( 12383092 )
2002
6
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. ( 7521372 )
1994

Variations for Exfoliative Ichthyosis

ClinVar genetic disease variations for Exfoliative Ichthyosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT2 NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 GRCh37 Chromosome 12, 53040534: 53040534
2 KRT2 NM_000423.2(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 GRCh38 Chromosome 12, 52646750: 52646750

Expression for Exfoliative Ichthyosis

Search GEO for disease gene expression data for Exfoliative Ichthyosis.

Pathways for Exfoliative Ichthyosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 CSTA KRT2 KRT5 RARG
2
Show member pathways
11.25 CSTA KRT2 KRT5
3
Show member pathways
10.99 KRT2 KRT5

GO Terms for Exfoliative Ichthyosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 CSTA IGFBP6 KRT2 SERPINB8
2 keratin filament GO:0045095 9.16 KRT2 KRT5
3 extracellular exosome GO:0070062 9.1 CSTA IGFBP6 ITGB7 KRT2 KRT5 SERPINB8
4 cornified envelope GO:0001533 8.96 CSTA KRT2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.32 CSTA SERPINB8
2 negative regulation of peptidase activity GO:0010466 9.26 CSTA SERPINB8
3 epidermis development GO:0008544 9.16 KRT2 KRT5
4 peptide cross-linking GO:0018149 8.96 CSTA KRT2
5 cornification GO:0070268 8.8 CSTA KRT2 KRT5

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.96 CSTA SERPINB8
2 structural constituent of cytoskeleton GO:0005200 8.62 KRT2 KRT5

Sources for Exfoliative Ichthyosis

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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