AEI
MCID: ICH036
MIFTS: 28

Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis (AEI) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

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

Name: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 54 13 69
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis 66 29
Aei 56 66
Annular Ichthyosis Variant of Bcie 66
Epidermolytic Ichthyosis, Annular 52
Annular Epidermolytic Ichthyosis 56
Ichthyosis Annular Epidermolytic 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 607602
Orphanet 56 ORPHA281139
ICD10 via Orphanet 34 Q80.3
MedGen 40 C1843463
MeSH 42 D007057

Summaries for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis

UniProtKB/Swiss-Prot : 66 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 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 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.

Description 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 27)
id Related Disease Score Top Affiliating Genes
1 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like 11.1
2 ichthyosis 10.2
3 congenital ichthyosiform erythroderma 10.2
4 epidermolytic ichthyosis 10.2
5 epidermolytic hyperkeratosis 10.1
6 bradyopsia 10.0 KRT1 KRT10
7 erdheim-chester disease 10.0 KRT1 KRT10
8 palmoplantar keratoderma, nonepidermolytic 10.0 KRT1 KRT10
9 episodic angioedema with eosinophilia 10.0 KRT1 KRT10
10 ciliary dyskinesia, primary, 1, with or without situs inversus 10.0 KRT1 KRT10
11 squamous cell carcinoma 10.0 KRT1 KRT10
12 subglottis verrucous carcinoma 10.0 KRT1 KRT10
13 mixed cell adenoma 10.0 KRT1 KRT10
14 keratosis palmoplantaris striata iii 9.9 KRT1 KRT10
15 thymus mucoepidermoid carcinoma 9.9 KRT1 KRT10
16 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 9.9 KRT1 KRT10
17 scott syndrome 9.9 KRT1 KRT10
18 carotid artery thrombosis 9.9 KRT1 KRT10
19 ichthyosis histrix, curth-macklin type 9.9 KRT1 KRT10
20 epidermolysis bullosa simplex-mp 9.9 KRT1 KRT10
21 cole-carpenter syndrome 1 9.9 KRT1 KRT10
22 intraocular retinoblastoma 9.9 KRT1 KRT10
23 richter's syndrome 9.9 KRT1 KRT10
24 steroid inherited metabolic disorder 9.8 KRT1 KRT10
25 solitary bone cyst 9.8 KRT1 KRT10
26 autonomic nervous system neoplasm 9.8 KRT1 KRT10
27 skin atrophy 9.7 KRT1 KRT10

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 by clinical synopsis from OMIM:

607602

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

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:

66
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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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