MCID: EXF002
MIFTS: 25

Exfoliative Ichthyosis

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Exfoliative Ichthyosis

MalaCards integrated aliases for Exfoliative Ichthyosis:

Name: Exfoliative Ichthyosis 58
Ichthyosis Exfoliativa 58 6 71
Autosomal Recessive Exfoliative Ichthyosis 58

Characteristics:

Orphanet epidemiological data:

58
exfoliative ichthyosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q80.8
UMLS via Orphanet 72 C1838440
Orphanet 58 ORPHA289586
UMLS 71 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 CSTA (Cystatin A), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include eye.

Related Diseases for Exfoliative Ichthyosis

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:

40
Eye

Publications for Exfoliative Ichthyosis

Articles related to Exfoliative Ichthyosis:

(show all 17)
# Title Authors PMID Year
1
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. 61 6
25400170 2015
2
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 61 6
23534700 2013
3
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. 61 6
21944047 2011
4
An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. 6 61
12890214 2003
5
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. 61 6
8077693 1994
6
Autosomal dominant ichthyosis exfoliativa. 6 61
2004005 1991
7
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. 6
22066523 2012
8
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. 6
10233323 1999
9
Ichthyosis bullosa of Siemens--a disease involving keratin 2e. 6
7521371 1994
10
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. 6
7524919 1994
11
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. 61
31642606 2020
12
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. 61
27476651 2016
13
Acral peeling skin syndrome associated with a novel CSTA gene mutation. 61
26684698 2016
14
Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion. 61
25785582 2015
15
Discovery in genetic skin disease: the impact of high throughput genetic technologies. 61
25093584 2014
16
A new variant of autosomal recessive exfoliative ichthyosis. 61
12383092 2002
17
Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. 61
7521372 1994

Variations for Exfoliative Ichthyosis

ClinVar genetic disease variations for Exfoliative Ichthyosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT2 NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) SNV Pathogenic 9310 rs137852629 12:53040534-53040534 12:52646750-52646750
2 CSTA NM_005213.4(CSTA):c.67-2A>T SNV Pathogenic 29892 rs398122804 3:122056392-122056392 3:122337545-122337545
3 CSTA NM_005213.4(CSTA):c.256C>T (p.Gln86Ter) SNV Pathogenic 29893 rs387906689 3:122060373-122060373 3:122341526-122341526
4 CSTA NM_005213.4(CSTA):c.64A>T (p.Lys22Ter) SNV Pathogenic 208472 rs747711488 3:122044203-122044203 3:122325356-122325356
5 CSTA NM_005213.4(CSTA):c.172C>T (p.Arg58Ter) SNV Pathogenic 208473 rs149474339 3:122060289-122060289 3:122341442-122341442

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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