MCID: ICH025
MIFTS: 17

Ichthyosis, Follicular

Categories: Rare diseases

Aliases & Classifications for Ichthyosis, Follicular

MalaCards integrated aliases for Ichthyosis, Follicular:

Name: Ichthyosis, Follicular 53
Follicular Ichthyosis 53 73

Classifications:



External Ids:

UMLS 73 C0406344

Summaries for Ichthyosis, Follicular

MalaCards based summary : Ichthyosis, Follicular, also known as follicular ichthyosis, is related to ichthyosis and ichthyosis, congenital, autosomal recessive 11. An important gene associated with Ichthyosis, Follicular is FLG (Filaggrin), and among its related pathways/superpathways are Developmental Biology and Keratinization.

Related Diseases for Ichthyosis, Follicular

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

# Related Disease Score Top Affiliating Genes
1 ichthyosis 28.6 FLG ST14
2 ichthyosis, congenital, autosomal recessive 11 11.4
3 ifap syndrome with or without bresheck syndrome 11.2
4 ichthyosis follicularis atrichia photophobia syndrome 11.0
5 hypotrichosis 10.1
6 ichthyosis lamellar 1 9.9
7 hypohidrosis 9.8
8 woolly hair syndrome 9.8
9 congenital ichthyosiform erythroderma 9.2 FLG ST14

Graphical network of the top 20 diseases related to Ichthyosis, Follicular:



Diseases related to Ichthyosis, Follicular

Symptoms & Phenotypes for Ichthyosis, Follicular

Drugs & Therapeutics for Ichthyosis, Follicular

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Follicular

Genetic Tests for Ichthyosis, Follicular

Anatomical Context for Ichthyosis, Follicular

Publications for Ichthyosis, Follicular

Articles related to Ichthyosis, Follicular:

# Title Authors Year
1
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. ( 26596219 )
2016
2
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. ( 18843291 )
2009
3
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. ( 12207612 )
2002
4
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? ( 9450882 )
1998

Variations for Ichthyosis, Follicular

Expression for Ichthyosis, Follicular

Search GEO for disease gene expression data for Ichthyosis, Follicular.

Pathways for Ichthyosis, Follicular

Pathways related to Ichthyosis, Follicular according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 FLG PRSS8 ST14
2
Show member pathways
11.25 FLG PRSS8 ST14

GO Terms for Ichthyosis, Follicular

Cellular components related to Ichthyosis, Follicular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extrinsic component of plasma membrane GO:0019897 8.62 PRSS8 ST14

Biological processes related to Ichthyosis, Follicular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.33 PRSS8 ST14 TMPRSS11A
2 keratinocyte differentiation GO:0030216 8.96 FLG ST14
3 cornification GO:0070268 8.8 FLG PRSS8 ST14

Molecular functions related to Ichthyosis, Follicular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 PRSS8 ST14 TMPRSS11A
2 peptidase activity GO:0008233 9.33 PRSS8 ST14 TMPRSS11A
3 endopeptidase activity GO:0004175 9.26 PRSS8 ST14
4 serine-type endopeptidase activity GO:0004252 9.13 PRSS8 ST14 TMPRSS11A
5 serine-type peptidase activity GO:0008236 8.8 PRSS8 ST14 TMPRSS11A

Sources for Ichthyosis, Follicular

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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