AEI
MCID: ICH036
MIFTS: 33

Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis (AEI)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 57 29 13 6 39 70
Aei 57 58 72
Epidermolytic Ichthyosis, Annular 57 54
Annular Epidermolytic Ichthyosis 58 36
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 72
Epidermolytic Ichthyosis, Annular; Aei 57
Annular Ichthyosis Variant of Bcie 72
Ichthyosis Annular Epidermolytic 72
Ciehk 57

Characteristics:

Orphanet epidemiological data:

58
annular epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 607602
KEGG 36 H02265
MeSH 44 D007057
ICD10 via Orphanet 33 Q80.3
Orphanet 58 ORPHA281139
MedGen 41 C1843463
UMLS 70 C1843463

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

UniProtKB/Swiss-Prot : 72 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 keratosis and palmoplantar keratosis. An important gene associated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis is KRT1 (Keratin 1), and among its related pathways/superpathways is Keratinization. Related phenotypes are erythema and palmoplantar hyperkeratosis

KEGG : 36 Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.

More information from OMIM: 607602

Related Diseases for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 keratosis 30.4 KRT10 KRT1
2 palmoplantar keratosis 30.2 KRT10 KRT1
3 ichthyosis 30.2 KRT10-AS1 KRT10 KRT1
4 epidermolytic hyperkeratosis 30.0 KRT10-AS1 KRT10 KRT1
5 erythrokeratodermia variabilis et progressiva 1 30.0 KRT10 KRT1
6 autosomal dominant epidermolytic ichthyosis 29.9 KRT10-AS1 KRT10 KRT1
7 ichthyosis bullosa of siemens 29.8 KRT10 KRT1
8 peeling skin syndrome 4 11.3
9 erythrokeratodermia variabilis et progressiva 5 10.3
10 helix syndrome 10.1
11 lung cancer 10.0
12 autosomal recessive epidermolytic ichthyosis 9.8 KRT10-AS1 KRT10
13 keratinopathic ichthyosis 9.8 KRT10 KRT1
14 striate palmoplantar keratoderma 9.8 KRT10 KRT1
15 epidermolytic acanthoma 9.8 KRT10 KRT1
16 acanthoma 9.8 KRT10 KRT1
17 skin papilloma 9.7 KRT10 KRT1
18 papilloma 9.7 KRT10 KRT1
19 palmoplantar keratoderma, epidermolytic 9.7 KRT10 KRT1
20 ichthyosis vulgaris 9.7 KRT10 KRT1
21 pachyonychia congenita 1 9.7 KRT10 KRT1
22 nevus, epidermal 9.7 KRT10 KRT1
23 lichen planus 9.7 KRT10 KRT1
24 epidermolysis bullosa 9.7 KRT10 KRT1
25 epidermolysis bullosa simplex 9.7 KRT10 KRT1
26 integumentary system disease 9.6 KRT10 KRT1
27 autosomal recessive congenital ichthyosis 9.6 KRT10 KRT1
28 dyskeratosis congenita 9.6 KRT10 KRT1
29 basal cell carcinoma 9.5 KRT10 KRT1
30 erythroderma, ichthyosiform, congenital reticular 9.5 KRT10-AS1 KRT10 KRT1
31 skin disease 9.4 KRT10 KRT1

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Nails:
normal

Skin Nails Hair Skin:
hyperkeratosis of the palms and soles
neonatal blisters and erosions
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

Clinical features from OMIM®:

607602 (Updated 05-Apr-2021)

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 29 KRT1 KRT10

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Publications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Articles related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

(show all 16)
# Title Authors PMID Year
1
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 61 6 54 57
9036939 1997
2
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. 6 57
10053007 1999
3
Inherited ichthyoses: molecular causes of the disease in Czech patients. 6
31046801 2019
4
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. 6
14708600 2003
5
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. 6
8751983 1996
6
The pathogenesis of severe congenital ichthyosis of the neonate. 61 54
10511478 1999
7
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 54 61
9856845 1998
8
Annular epidermolytic ichthyosis: a case report and literature review. 61
32482553 2020
9
Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity. 61
32666929 2020
10
Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation. 61
31909138 2020
11
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. 61
30152556 2018
12
Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. 61
25751346 2015
13
The expression of the 27-kd heat shock protein in keratinization disorders: an immunohistological study. 61
16021576 2005
14
Annular epidermolytic ichthyosis. 61
14594577 2003
15
Annular epidermolytic ichthyosis. 61
10583132 1999
16
Annular epidermolytic ichthyosis: a unique phenotype. 61
1517502 1992

Variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT1 NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) SNV Pathogenic 15911 rs57837128 GRCh37: 12:53070098-53070098
GRCh38: 12:52676314-52676314
2 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.1264_1265delinsGA (p.Arg422Glu) Indel Pathogenic 14580 rs59075499 GRCh37: 17:38975877-38975878
GRCh38: 17:40819625-40819626
3 KRT10-AS1 , KRT10 NM_000421.4(KRT10):c.466C>T (p.Arg156Cys) SNV Pathogenic 14576 rs58852768 GRCh37: 17:38978372-38978372
GRCh38: 17:40822120-40822120
4 KRT1 NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) SNV Pathogenic 15912 rs61218439 GRCh37: 12:53070099-53070099
GRCh38: 12:52676315-52676315
5 KRT1 NM_006121.4(KRT1):c.532T>C (p.Ser178Pro) SNV Likely pathogenic 989261 GRCh37: 12:53073601-53073601
GRCh38: 12:52679817-52679817
6 KRT1 NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) SNV Likely pathogenic 997963 GRCh37: 12:53073569-53073569
GRCh38: 12:52679785-52679785

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

72
# Symbol AA change Variation ID SNP ID
1 KRT1 p.Ile479Phe VAR_017825 rs61218439
2 KRT1 p.Ile479Thr VAR_017826 rs57837128
3 KRT10 p.Ile446Thr VAR_010511 rs62651994
4 KRT10 p.Arg422Glu VAR_033145 rs59075499

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 KRT10 KRT1

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 KRT10 KRT1
2 cornified envelope GO:0001533 8.62 KRT10 KRT1

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 9.26 KRT10 KRT1
2 cornification GO:0070268 9.16 KRT10 KRT1
3 peptide cross-linking GO:0018149 8.96 KRT10 KRT1
4 protein heterotetramerization GO:0051290 8.62 KRT10 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 8.96 KRT10 KRT1
2 structural constituent of epidermis GO:0030280 8.62 KRT10 KRT1

Sources for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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