AREI
MCID: ATS416
MIFTS: 11

Autosomal Recessive Epidermolytic Ichthyosis (AREI)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Epidermolytic Ichthyosis

MalaCards integrated aliases for Autosomal Recessive Epidermolytic Ichthyosis:

Name: Autosomal Recessive Epidermolytic Ichthyosis 58
Arei 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA512103

Summaries for Autosomal Recessive Epidermolytic Ichthyosis

MalaCards based summary : Autosomal Recessive Epidermolytic Ichthyosis, also known as arei, is related to ichthyosis and epidermolytic hyperkeratosis. An important gene associated with Autosomal Recessive Epidermolytic Ichthyosis is KRT10 (Keratin 10). Affiliated tissues include prostate.

Related Diseases for Autosomal Recessive Epidermolytic Ichthyosis

Diseases in the Autosomal Dominant Epidermolytic Ichthyosis family:

Autosomal Recessive Epidermolytic Ichthyosis

Diseases related to Autosomal Recessive Epidermolytic Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis 29.8 KRT10-AS1 KRT10
2 epidermolytic hyperkeratosis 29.6 KRT10-AS1 KRT10
3 autosomal dominant epidermolytic ichthyosis 29.4 KRT10-AS1 KRT10
4 peeling skin syndrome 4 11.2
5 keratosis 10.2
6 prostatic hyperplasia, benign 9.9
7 prostatic hypertrophy 9.9
8 prostatic adenoma 9.9
9 erythroderma, ichthyosiform, congenital reticular 9.7 KRT10-AS1 KRT10
10 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.6 KRT10-AS1 KRT10

Graphical network of the top 20 diseases related to Autosomal Recessive Epidermolytic Ichthyosis:



Diseases related to Autosomal Recessive Epidermolytic Ichthyosis

Symptoms & Phenotypes for Autosomal Recessive Epidermolytic Ichthyosis

Drugs & Therapeutics for Autosomal Recessive Epidermolytic Ichthyosis

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Epidermolytic Ichthyosis

Genetic Tests for Autosomal Recessive Epidermolytic Ichthyosis

Anatomical Context for Autosomal Recessive Epidermolytic Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Epidermolytic Ichthyosis:

40
Prostate

Publications for Autosomal Recessive Epidermolytic Ichthyosis

Articles related to Autosomal Recessive Epidermolytic Ichthyosis:

# Title Authors PMID Year
1
Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis. 61
31278741 2020
2
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. 61
25400170 2015
3
Association of G/A polymorphism, rs266882, in AREI region of the prostate-specific antigen gene with prostate cancer risk and clinicopathological features. 61
23235975 2012
4
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. 61
20302579 2010
5
ARE-I polymorphism on PSA gene in prostate cancer patients of a Turkish population. 61
19414393 2009
6
PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. 61
17151093 2007
7
Polymorphisms in the androgen receptor and the prostate-specific antigen genes and prostate cancer risk. 61
15810021 2005
8
Chimeric PSA enhancers exhibit augmented activity in prostate cancer gene therapy vectors. 61
11571582 2001

Variations for Autosomal Recessive Epidermolytic Ichthyosis

Expression for Autosomal Recessive Epidermolytic Ichthyosis

Search GEO for disease gene expression data for Autosomal Recessive Epidermolytic Ichthyosis.

Pathways for Autosomal Recessive Epidermolytic Ichthyosis

GO Terms for Autosomal Recessive Epidermolytic Ichthyosis

Sources for Autosomal Recessive Epidermolytic 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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