MCID: ICH036
MIFTS: 31

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 53 28 13 69
Aei 53 55 71
Epidermolytic Ichthyosis, Annular 53 51
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 71
Epidermolytic Ichthyosis, Annular; Aei 53
Annular Ichthyosis Variant of Bcie 71
Annular Epidermolytic Ichthyosis 55
Ichthyosis Annular Epidermolytic 71
Ciehk 53

Characteristics:

Orphanet epidemiological data:

55
annular epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 607602
Orphanet 55 ORPHA281139
ICD10 via Orphanet 33 Q80.3
MedGen 39 C1843463
MeSH 41 D007057
UMLS 69 C1843463

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 congenital ichthyosiform erythroderma and epidermolytic hyperkeratosis, 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:

53
Skin Nails Hair Skin:
neonatal blisters and erosions
hyperkeratosis of the palms and soles
erythema, blisters, pustules (cyclical, explosive episodes)
ichthyosis of scalp and flexural areas
migratory plaques of thickened, sharply demarcated erythema and hyperkeratosis

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

Skin Nails Hair Hair:
normal

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

Skin Nails Hair Nails:
normal


Clinical features from OMIM:

607602

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

31
# Description HPO Frequency HPO Source Accession
1 erythema 31 HP:0010783
2 palmoplantar hyperkeratosis 31 HP:0000972
3 congenital bullous ichthyosiform erythroderma 31 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:

# Genetic test Affiliating Genes
1 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 28 KRT1 KRT10

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

38
Skin, Neutrophil

Publications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Articles related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

# Title Authors Year
1
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. ( 10053007 )
1999

Variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

71
# 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
# 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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.16 KRT1 KRT10
2 cornification GO:0070268 8.96 KRT1 KRT10
3 peptide cross-linking GO:0018149 8.62 KRT1 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT1 KRT10
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....