MCID: ICH036
MIFTS: 24

Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 51 12 67
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 69 26
Aei 53 69
Annular Ichthyosis Variant of Bcie 69
 
Epidermolytic Ichthyosis, Annular 49
Annular Epidermolytic Ichthyosis 53
Ichthyosis Annular Epidermolytic 69

Characteristics:

Orphanet epidemiological data:

53
aei:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 607602
Orphanet53 ORPHA281139
ICD10 via Orphanet30 Q80.3
MedGen36 C1843463
MeSH38 D007057

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot:69 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 congenital ichthyosiform erythroderma, 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). Affiliated tissues include skin.

Description from OMIM:51 607602

Related Diseases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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



Diseases related to ichthyosis, cyclic, with epidermolytic hyperkeratosis

Symptoms 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:

 63
id Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis63 HP:0000972
2 congenital bullous ichthyosiform erythroderma63 HP:0007475
3 erythema63 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 Hyperkeratosis26

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

35
Skin

Animal Models for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis or affiliated genes

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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:

69
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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GO Terms for genes affiliated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet