MCID: ICH036
MIFTS: 26

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:
49OMIM, 11diseasecard, 65UMLS, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 49 11 65
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 67 24
Aei 51 67
Annular Ichthyosis Variant of Bcie 67
 
Epidermolytic Ichthyosis, Annular 47
Annular Epidermolytic Ichthyosis 51
Ichthyosis Annular Epidermolytic 67

Characteristics:

Orphanet epidemiological data:

51
aei:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 607602
Orphanet51 281139
ICD10 via Orphanet28 Q80.3
MedGen34 C1843463
MeSH36 D007057
UMLS65 C1843463

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot:67 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 homocystinuria, and has symptoms including palmoplantar hyperkeratosis, congenital bullous ichthyosiform erythroderma and erythema. An important gene associated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis is KRT1 (Keratin 1). Affiliated tissues include skin.

Description from OMIM:49 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 for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Symptoms by clinical synopsis from OMIM:

607602

Clinical features from OMIM:

607602

HPO human phenotypes related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

id Description Frequency HPO Source Accession
1 palmoplantar hyperkeratosis HP:0000972
2 congenital bullous ichthyosiform erythroderma HP:0007475
3 erythema 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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Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1KRT10p.Ile446ThrVAR_010511
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
1NM_000421.3(KRT10): c.1264_1265delCGinsGA (p.Arg422Glu)indelPathogenicrs59075499GRCh37Chr 17, 38975877: 38975878
2KRT1NM_006121.3(KRT1): c.1436T> C (p.Ile479Thr)single nucleotide variantPathogenicrs57837128GRCh37Chr 12, 53070098: 53070098
3KRT1NM_006121.3(KRT1): c.1435A> T (p.Ile479Phe)single nucleotide variantPathogenicrs61218439GRCh37Chr 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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Cellular components related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.1KRT10, KRT9

Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet