MCID: ICH036
MIFTS: 29

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:
50OMIM, 12diseasecard, 66UMLS, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 50 12 66
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 68 25
Aei 52 68
Annular Ichthyosis Variant of Bcie 68
 
Epidermolytic Ichthyosis, Annular 48
Annular Epidermolytic Ichthyosis 52
Ichthyosis Annular Epidermolytic 68

Characteristics:

Orphanet epidemiological data:

52
aei:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 607602
Orphanet52 ORPHA281139
ICD10 via Orphanet29 Q80.3
MedGen35 C1843463
MeSH37 D007057

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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UniProtKB/Swiss-Prot:68 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 congenital ichthyosiform erythroderma and epidermolytic ichthyosis, 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), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin.

Description from OMIM:50 607602

Related Diseases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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Diseases related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma10.3
2epidermolytic ichthyosis10.3
3exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like10.3
4epidermolytic hyperkeratosis10.2
5palmoplantar keratoderma, nonepidermolytic10.1KRT1, KRT16
6white sponge nevus 110.1KRT1, KRT16
7keratosis palmoplantaris striata iii10.0KRT1, KRT16
8palmoplantar keratoderma, epidermolytic10.0KRT1, KRT16
9histiocytosis9.9KRT1, KRT16
10craniodiaphyseal dysplasia, autosomal dominant9.8KRT10, KRT16
11complex lethal osteochondrodysplasia9.8KRT10, KRT16
12hypertrophic or verrucous lupus erythematosus9.8KRT10, KRT16
13ebola hemorrhagic fever9.8KRT1, KRT10
14bradyopsia9.8KRT1, KRT10
15brachydactyly type a39.8KRT1, KRT10
16malignant cystic nephroma9.8KRT1, KRT10
17hemoglobin d disease9.8KRT1, KRT10
18telangiectasia, hereditary hemorrhagic, type 29.7KRT1, KRT10
19lipomatosis9.7KRT10, KRT16
20bullous keratopathy9.7KRT10, KRT16
21distal arthrogryposis9.7KRT10, KRT16
22freemartinism9.7KRT1, KRT10
23colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas9.7KRT1, KRT10
24subacute monocytic leukemia9.7KRT10, KRT16
25cole-carpenter syndrome 19.6KRT10, KRT16
26lissencephaly9.6KRT10, KRT16
27breast fibroadenoma9.4KRT1, KRT10
28small non-cleaved cell lymphoma9.4KRT1, KRT10
29steroid inherited metabolic disorder9.3KRT1, KRT10
30ichthyosis histrix, curth-macklin type9.3KRT1, KRT10, KRT16
31epidermolysis bullosa simplex, dowling-meara type9.3KRT1, KRT10, KRT16
32ichthyosis, cyclic, with epidermolytic hyperkeratosis9.3KRT1, KRT10, KRT16
33familial retinoblastoma9.3KRT1, KRT10, KRT16
34kidney hemangiopericytoma9.1KRT1, KRT10

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

id Genetic test Affiliating Genes
1 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis25

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

34
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:

68
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
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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Pathways related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3KRT1, KRT16

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:00058829.4KRT10, KRT16
2cytoskeletonGO:00058569.3KRT1, KRT16

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

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.3KRT1, KRT16
2keratinocyte differentiationGO:00302168.8KRT10, KRT16

Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet