AEI
MCID: ICH036
MIFTS: 36

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 40 73
Aei 57 59 75
Epidermolytic Ichthyosis, Annular 57 55
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 75
Epidermolytic Ichthyosis, Annular; Aei 57
Annular Ichthyosis Variant of Bcie 75
Annular Epidermolytic Ichthyosis 59
Ichthyosis Annular Epidermolytic 75
Ciehk 57

Characteristics:

Orphanet epidemiological data:

59
annular epidermolytic ichthyosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 607602
Orphanet 59 ORPHA281139
ICD10 via Orphanet 34 Q80.3
MedGen 42 C1843463
MeSH 44 D007057
UMLS 73 C1843463

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

UniProtKB/Swiss-Prot : 75 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 ichthyosis and epidermolytic hyperkeratosis. 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, neutrophil and brain, and related phenotypes are erythema and palmoplantar hyperkeratosis

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:

57
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

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

32
# 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:

# Genetic test Affiliating Genes
1 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 29 KRT1 KRT10

Anatomical Context for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

41
Skin, Neutrophil, Brain, Testes

Publications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

Articles related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:

(show all 15)
# Title Authors Year
1
Scalable Wet Deposition of Zeolite AEI with a High Degree of Preferred Crystal Orientation. ( 30076745 )
2018
2
Shot-noise-limited laser power stabilization for the AEI 10  m Prototype interferometer. ( 28198864 )
2017
3
Shot-noise-limited laser power stabilization for the AEI 10  m Prototype interferometer: publisher's note. ( 28295093 )
2017
4
Justification of anthropometric empirical indicator (AEI) by digital chest and pelvic X-rays: a comparative scenario with DXA on obesity grounds. ( 24676879 )
2014
5
Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain. ( 22013986 )
2011
6
Proposed methods and endpoints for defining and assessing adverse environmental impact (AEI) on fish communities/populations in Tennessee River reservoirs. ( 12805895 )
2002
7
Indicators of AEI applied to the Delaware Estuary. ( 12805941 )
2002
8
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. ( 10053007 )
1999
9
Use of N-acetylethyleneimine [AEI] for the inactivation of Semliki Forest virus in vitro. ( 3746260 )
1986
10
Brookings and AEI: testing grounds for "shadow cabinets" and policy ideas. ( 10240032 )
1979
11
Mass spectrometric isotope ratio measurements and peak area integration using the peak-switching feature of the AEI MS-902. ( 22309519 )
1972
12
The AEI analytical electron microscope, EMMA-4, and its applications. ( 4101931 )
1970
13
A roll film camera for the AEI-EM6 electron microscope. ( 5409169 )
1969
14
An improved operating method for the AEI-EM6B electron microscope. ( 5673759 )
1968
15
A further modification to increase filament life on the AEI-EM6B electron microscope. ( 5726941 )
1968

Variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

75
# 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

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 KRT10 NM_000421.3(KRT10): c.1264_1265delCGinsGA (p.Arg422Glu) indel Pathogenic rs59075499 GRCh38 Chromosome 17, 40819625: 40819626
3 KRT1 NM_006121.3(KRT1): c.1436T> C (p.Ile479Thr) single nucleotide variant Pathogenic rs57837128 GRCh37 Chromosome 12, 53070098: 53070098
4 KRT1 NM_006121.3(KRT1): c.1436T> C (p.Ile479Thr) single nucleotide variant Pathogenic rs57837128 GRCh38 Chromosome 12, 52676314: 52676314
5 KRT1 NM_006121.3(KRT1): c.1435A> T (p.Ile479Phe) single nucleotide variant Pathogenic rs61218439 GRCh37 Chromosome 12, 53070099: 53070099
6 KRT1 NM_006121.3(KRT1): c.1435A> T (p.Ile479Phe) single nucleotide variant Pathogenic rs61218439 GRCh38 Chromosome 12, 52676315: 52676315

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 9.26 KRT1 KRT10
2 cornification GO:0070268 9.16 KRT1 KRT10
3 peptide cross-linking GO:0018149 8.96 KRT1 KRT10
4 protein heterotetramerization GO:0051290 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 protein heterodimerization activity GO:0046982 9.16 KRT1 KRT10
2 structural molecule activity GO:0005198 8.96 KRT1 KRT10
3 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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