AEI
MCID: ICH036
MIFTS: 28

Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis (AEI) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 52 12 68
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 70 27
Aei 54 70
Annular Ichthyosis Variant of Bcie 70
 
Epidermolytic Ichthyosis, Annular 50
Annular Epidermolytic Ichthyosis 54
Ichthyosis Annular Epidermolytic 70

Characteristics:

Orphanet epidemiological data:

54
aei:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 607602
Orphanet54 ORPHA281139
ICD10 via Orphanet31 Q80.3
MedGen37 C1843463
MeSH39 D007057

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot:70 Ichthyosis annular epidermolytic: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months.

MalaCards based summary: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis, also known as cyclic ichthyosis with epidermolytic hyperkeratosis, is related to exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like and ichthyosis, and has symptoms including palmoplantar hyperkeratosis, congenital bullous ichthyosiform erythroderma and erythema. An important gene associated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways is Keratinization. Affiliated tissues include skin.

Description from OMIM:52 607602

Related Diseases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Graphical network of the top 20 diseases related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:



Diseases related to ichthyosis, cyclic, with epidermolytic hyperkeratosis

Symptoms & Phenotypes for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Symptoms by clinical synopsis from OMIM:

607602

Clinical features from OMIM:

607602

Human phenotypes related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

 64
id Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis64 HP:0000972
2 congenital bullous ichthyosiform erythroderma64 HP:0007475
3 erythema64 HP:0010783

Drugs & Therapeutics for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Genetic Tests for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Genetic tests related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

id Genetic test Affiliating Genes
1 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis27

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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MalaCards organs/tissues related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

36
Skin

Publications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

70
id Symbol AA change Variation ID SNP ID
1KRT10p.Ile446ThrVAR_010511rs62651994
2KRT10p.Arg422GluVAR_033145rs59075499
3KRT1p.Ile479PheVAR_017825rs61218439
4KRT1p.Ile479ThrVAR_017826rs57837128

Clinvar genetic disease variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10NM_ 000421.3(KRT10): c.1264_ 1265delCGinsGA (p.Arg422Glu)indelPathogenicrs59075499GRCh37Chr 17, 38975877: 38975878
2KRT1NM_ 006121.3(KRT1): c.1436T> C (p.Ile479Thr)SNVPathogenicrs57837128GRCh37Chr 12, 53070098: 53070098
3KRT1NM_ 006121.3(KRT1): c.1435A> T (p.Ile479Phe)SNVPathogenicrs61218439GRCh37Chr 12, 53070099: 53070099

Expression for genes affiliated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Search GEO for disease gene expression data for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis.

Pathways for genes affiliated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Pathways related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1KRT1, KRT10

GO Terms for genes affiliated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Cellular components related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00015339.7KRT1, KRT10
2intermediate filamentGO:00058829.1KRT1, KRT10

Biological processes related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cornificationGO:00702689.7KRT1, KRT10
2keratinizationGO:00314249.6KRT1, KRT10
3peptide cross-linkingGO:00181499.4KRT1, KRT10
4skin epidermis developmentGO:00987739.1KRT1, KRT10

Molecular functions related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of epidermisGO:00302809.1KRT1, KRT10

Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet