MCID: ICH025
MIFTS: 18

Ichthyosis, Follicular

Categories: Rare diseases

Aliases & Classifications for Ichthyosis, Follicular

MalaCards integrated aliases for Ichthyosis, Follicular:

Name: Ichthyosis, Follicular 20
Follicular Ichthyosis 20 70

Classifications:



External Ids:

UMLS 70 C0406344

Summaries for Ichthyosis, Follicular

MalaCards based summary : Ichthyosis, Follicular, also known as follicular ichthyosis, is related to ichthyosis, congenital, autosomal recessive 11 and hypotrichosis. An important gene associated with Ichthyosis, Follicular is ST14 (ST14 Transmembrane Serine Protease Matriptase), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin.

Related Diseases for Ichthyosis, Follicular

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

MalaCards organs/tissues related to Ichthyosis, Follicular:

40
Skin

Publications for Ichthyosis, Follicular

Articles related to Ichthyosis, Follicular:

(showing 20, show less)
# Title Authors PMID Year
1
Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature. 61
28654459 2018
2
Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report. 61
28329493 2017
3
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. 61
26596219 2016
4
A Case of IFAP Syndrome with Severe Atopic Dermatitis. 61
25685152 2015
5
Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes. 61
23900022 2014
6
Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia. 61
24090718 2013
7
Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment. 61
21670910 2011
8
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome. 61
19804494 2010
9
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 61
18843291 2009
10
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. 61
12207612 2002
11
Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies. 61
10861681 2000
12
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? 61
10694306 2000
13
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? 61
9450882 1998
14
Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. 61
1456297 1992
15
[Congenital atrichia. Follicular ichthyosis. Palmoplantar keratoderma. Total proximal leukonychia. Facial dysmorphism. A new entity?]. 61
1789627 1991
16
Alpha hydroxy acids: procedures for use in clinical practice. 61
2523288 1989
17
Follicular ichthyosis. 61
6743535 1984
18
Intractable skin disorders treated with the aromatic retinoid etretinate (Tigason). Two and a half years' experience in the Transvaal. 61
6867876 1983
19
Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. 61
7363504 1980
20
[Cutaneous manifestations of malabsorption diseases (author's transl)]. 61
380445 1978

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:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 ST14 PRSS8 FLG
2
Show member pathways
11.25 ST14 PRSS8 FLG

GO Terms for Ichthyosis, Follicular

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

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

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.43 TMPRSS11A ST14 PRSS8
2 peptidase activity GO:0008233 9.33 TMPRSS11A ST14 PRSS8
3 serine-type endopeptidase activity GO:0004252 9.13 TMPRSS11A ST14 PRSS8
4 serine-type peptidase activity GO:0008236 8.8 TMPRSS11A ST14 PRSS8

Sources for Ichthyosis, Follicular

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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