MCID: ICH036
MIFTS: 30

Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

MalaCards integrated aliases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 54 29 13 69
Aei 56 71
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 71
Annular Ichthyosis Variant of Bcie 71
Epidermolytic Ichthyosis, Annular 52
Annular Epidermolytic Ichthyosis 56
Ichthyosis Annular Epidermolytic 71

Characteristics:

Orphanet epidemiological data:

56
annular epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

UniProtKB/Swiss-Prot : 71 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 aei, is related to peeling skin syndrome 4 and ichthyosis, and has symptoms including erythema, palmoplantar hyperkeratosis and congenital bullous ichthyosiform erythroderma. An important gene associated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin and neutrophil.

Description from OMIM: 607602

Related Diseases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
normal

Skin Nails & Hair- Skin Electron Microscopy:
dense whorls of keratin filaments in the lower and middle spinous layers
circumscribed clumps of keratin filaments (some associated with desmosomes)
cytolysis

Skin Nails & Hair- Skin:
migratory plaques of thickened, sharply demarcated erythema and hyperkeratosis
ichthyosis of scalp and flexural areas
erythema, blisters, pustules (cyclical, explosive episodes)
neonatal blisters and erosions
hyperkeratosis of the palms and soles

Skin Nails & Hair- Nails:
normal

Skin Nails & Hair- Skin Histology:
superficial and deep perivascular infiltrates in the dermis
eosinophils and neutrophils in the epidermis
epidermal spongiosis
intraepidermal vesicles


Clinical features from OMIM:

607602

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

32
id Description HPO Frequency HPO Source Accession
1 erythema 32 HP:0010783
2 palmoplantar hyperkeratosis 32 HP:0000972
3 congenital bullous ichthyosiform erythroderma 32 HP:0007475

Drugs & Therapeutics for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

Genetic Tests for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

id Genetic test Affiliating Genes
1 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 29

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

39
Skin, Neutrophil

Publications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

71
id Symbol AA change Variation ID SNP ID
1 KRT10 p.Ile446Thr VAR_010511 rs62651994
2 KRT10 p.Arg422Glu VAR_033145 rs59075499
3 KRT1 p.Ile479Phe VAR_017825 rs61218439
4 KRT1 p.Ile479Thr VAR_017826 rs57837128

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 NM_000421.3(KRT10): c.1264_1265delCGinsGA (p.Arg422Glu) indel Pathogenic rs59075499 GRCh37 Chromosome 17, 38975877: 38975878
2 KRT1 NM_006121.3(KRT1): c.1436T> C (p.Ile479Thr) single nucleotide variant Pathogenic rs57837128 GRCh37 Chromosome 12, 53070098: 53070098
3 KRT1 NM_006121.3(KRT1): c.1435A> T (p.Ile479Phe) single nucleotide variant Pathogenic rs61218439 GRCh37 Chromosome 12, 53070099: 53070099

Expression for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

Pathways for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 KRT1 KRT10

GO Terms for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT1 KRT10
2 cornified envelope GO:0001533 8.62 KRT1 KRT10

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

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT1 KRT10
2 cornification GO:0070268 9.16 KRT1 KRT10
3 peptide cross-linking GO:0018149 8.96 KRT1 KRT10
4 skin epidermis development GO:0098773 8.62 KRT1 KRT10

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.65 KRT1
2 structural constituent of epidermis GO:0030280 8.62 KRT1 KRT10

Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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