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 59
Ichthyosis Exfoliativa 59 6 72
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:

ICD10 via Orphanet 34 Q80.8
UMLS via Orphanet 73 C1838440
Orphanet 59 ORPHA289586
UMLS 72 C1838440

Summaries for Exfoliative Ichthyosis

MalaCards based summary : Exfoliative Ichthyosis, also known as ichthyosis exfoliativa, is related to ichthyosis bullosa of siemens and peeling skin syndrome. 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ichthyosis bullosa of siemens 30.1 KRT2 CSTA
2 peeling skin syndrome 29.8 SERPINB8 CSTA
3 ichthyosis 29.6 KRT5 KRT2 CSTA
4 epidermolytic hyperkeratosis 29.1 KRT5 KRT2
5 peeling skin syndrome 4 12.4
6 keratosis 10.1
7 netherton syndrome 10.0
8 ichthyosis, congenital, autosomal recessive 7 10.0
9 peeling skin syndrome 5 10.0
10 autosomal dominant epidermolytic ichthyosis 10.0
11 autosomal recessive epidermolytic ichthyosis 10.0

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:

(show all 13)
# Title Authors PMID Year
1
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. 38 71
25400170 2015
2
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 38 71
23534700 2013
3
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. 38 71
21944047 2011
4
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. 38 71
12890214 2003
5
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. 71
22066523 2012
6
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. 38
27476651 2016
7
Acral peeling skin syndrome associated with a novel CSTA gene mutation. 38
26684698 2016
8
Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion. 38
25785582 2015
9
Discovery in genetic skin disease: the impact of high throughput genetic technologies. 38
25093584 2014
10
A new variant of autosomal recessive exfoliative ichthyosis. 38
12383092 2002
11
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. 38
8077693 1994
12
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. 38
7521372 1994
13
Autosomal dominant ichthyosis exfoliativa. 38
2004005 1991

Variations for Exfoliative Ichthyosis

ClinVar genetic disease variations for Exfoliative Ichthyosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KRT2 NM_000423.3(KRT2): c.1459G> A (p.Glu487Lys) single nucleotide variant Pathogenic rs137852629 12:53040534-53040534 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 RARG KRT5 KRT2 CSTA
2
Show member pathways
11.25 KRT5 KRT2 CSTA
3
Show member pathways
10.99 KRT5 KRT2

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 SERPINB8 KRT2 IGFBP6 CSTA
2 keratin filament GO:0045095 8.96 KRT5 KRT2
3 cornified envelope GO:0001533 8.62 KRT2 CSTA

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 SERPINB8 CSTA
2 negative regulation of peptidase activity GO:0010466 9.26 SERPINB8 CSTA
3 epidermis development GO:0008544 9.16 KRT5 KRT2
4 peptide cross-linking GO:0018149 8.96 KRT2 CSTA
5 cornification GO:0070268 8.8 KRT5 KRT2 CSTA

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 SERPINB8 CSTA
2 structural constituent of cytoskeleton GO:0005200 8.62 KRT5 KRT2

Sources for Exfoliative 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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