CRIE
MCID: ICH031
MIFTS: 31

Ichthyosis with Confetti (CRIE) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis with Confetti

Aliases & Descriptions for Ichthyosis with Confetti:

Name: Ichthyosis with Confetti 54 25 56 66 13
Congenital Reticular Ichthyosiform Erythroderma 25 56 29 69
Ichthyosis Variegata 25 56 66
Crie 25 56 66
Iwc 25 56 66
Erythroderma, Ichthyosiform, Congenital Reticular 54 66
Erythrokeratoderma, Reticular 69
Reticular Erythrokeratoderma 66
Aarau Disease 66

Characteristics:

Orphanet epidemiological data:

56
congenital reticular ichthyosiform erythroderma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
ichthyosis with confetti:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 609165
Orphanet 56 ORPHA281190
MeSH 42 D016113

Summaries for Ichthyosis with Confetti

OMIM : 54 Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin... (609165) more...

MalaCards based summary : Ichthyosis with Confetti, also known as congenital reticular ichthyosiform erythroderma, is related to ichthyosis and bradyopsia, and has symptoms including clubbing, erythroderma and palmoplantar hyperkeratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Erythroderma, ichthyosiform, congenital reticular: A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis.

Genetics Home Reference : 25 Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.

Wikipedia : 71 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

Related Diseases for Ichthyosis with Confetti

Graphical network of the top 20 diseases related to Ichthyosis with Confetti:



Diseases related to Ichthyosis with Confetti

Symptoms & Phenotypes for Ichthyosis with Confetti

Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

Human phenotypes related to Ichthyosis with Confetti:

32
id Description HPO Frequency HPO Source Accession
1 clubbing 32 HP:0001217
2 erythroderma 32 HP:0001019
3 palmoplantar hyperkeratosis 32 HP:0000972
4 hypertrichosis 32 HP:0000998

Drugs & Therapeutics for Ichthyosis with Confetti

Search Clinical Trials , NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

Genetic tests related to Ichthyosis with Confetti:

id Genetic test Affiliating Genes
1 Erythroderma, Ichthyosiform, Congenital Reticular 29

Anatomical Context for Ichthyosis with Confetti

MalaCards organs/tissues related to Ichthyosis with Confetti:

39
Skin

Publications for Ichthyosis with Confetti

Articles related to Ichthyosis with Confetti:

id Title Authors Year
1
Expanding the Mutation SpectrumA ofA Ichthyosis with Confetti. ( 27664712 )
2016
2
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation inA KRT1. ( 27283508 )
2016
3
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. ( 27208707 )
2016
4
Ichthyosis with confetti: clinics, molecular genetics and management. ( 26381864 )
2015
5
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. ( 25774499 )
2015
6
The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3' End of KRT10: From Disease to a Syndrome. ( 25210931 )
2014
7
Phenotypic Expansion in Ichthyosis With Confetti. ( 25210951 )
2014
8
Ichthyosis with confetti: a rare diagnosis and treatment plan. ( 25012887 )
2014
9
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. ( 24626314 )
2014
10
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. ( 21929535 )
2012

Variations for Ichthyosis with Confetti

ClinVar genetic disease variations for Ichthyosis with Confetti:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT10 NM_000421.3(KRT10): c.1374-2A> G single nucleotide variant Pathogenic rs587776815 GRCh37 Chromosome 17, 38975415: 38975415
2 KRT10 NM_000421.3(KRT10): c.1373+1G> A single nucleotide variant Pathogenic rs587776816 GRCh37 Chromosome 17, 38975768: 38975768
3 KRT10 NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs) duplication Pathogenic rs587776817 GRCh37 Chromosome 17, 38975338: 38975338
4 KRT10 NM_000421.3(KRT10): c.1560_1561delCG (p.Gly521Profs) deletion Pathogenic rs267607384 GRCh37 Chromosome 17, 38975226: 38975227

Expression for Ichthyosis with Confetti

Search GEO for disease gene expression data for Ichthyosis with Confetti.

Pathways for Ichthyosis with Confetti

Pathways related to Ichthyosis with Confetti 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 with Confetti

Cellular components related to Ichthyosis with Confetti 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 with Confetti 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 with Confetti 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 with Confetti

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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