MCID: EXF002
MIFTS: 23

Exfoliative Ichthyosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Exfoliative Ichthyosis

MalaCards integrated aliases for Exfoliative Ichthyosis:

Name: Exfoliative Ichthyosis 60
Ichthyosis Exfoliativa 60 6 74
Autosomal Recessive Exfoliative Ichthyosis 60

Characteristics:

Orphanet epidemiological data:

60
exfoliative ichthyosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 Q80.8
UMLS via Orphanet 75 C1838440
Orphanet 60 ORPHA289586
UMLS 74 C1838440

Summaries for Exfoliative Ichthyosis

MalaCards based summary : Exfoliative Ichthyosis, also known as ichthyosis exfoliativa, is related to ichthyosis bullosa of siemens and ichthyosis. 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 bullosa of siemens 32.5 CSTA KRT2
2 ichthyosis 29.9 CSTA KRT2 KRT5
3 peeling skin syndrome 4 12.3
4 peeling skin syndrome 5 9.9
5 peeling skin syndrome 9.9 CSTA SERPINB8
6 epidermolytic hyperkeratosis 9.7 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:

42
Skin

Publications for Exfoliative Ichthyosis

Articles related to Exfoliative Ichthyosis:

(show all 11)
# 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 )
2015
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
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. ( 10233323 )
1999
7
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. ( 7521371 )
1994
8
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. ( 7521372 )
1994
9
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. ( 7524919 )
1994
10
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. ( 8077693 )
1994
11
Autosomal dominant ichthyosis exfoliativa. ( 2004005 )
1991

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 9.46 CSTA IGFBP6 KRT2 SERPINB8
2 keratin filament GO:0045095 8.96 KRT2 KRT5
3 cornified envelope GO:0001533 8.62 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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