MCID: ICH031
MIFTS: 26

Ichthyosis with Confetti malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Ichthyosis with Confetti

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Aliases & Descriptions for Ichthyosis with Confetti:

Name: Ichthyosis with Confetti 51 25 53 69 12
Congenital Reticular Ichthyosiform Erythroderma 25 53 26 67
Ichthyosis Variegata 25 53 69
Crie 25 53 69
Iwc 25 53 69
 
Erythroderma, Ichthyosiform, Congenital Reticular 51 69
Erythrokeratoderma, Reticular 67
Reticular Erythrokeratoderma 69
Aarau Disease 69

Characteristics:

Orphanet epidemiological data:

53
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
ichthyosis with confetti:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 609165
Orphanet53 ORPHA281190
MeSH38 D016113

Summaries for Ichthyosis with Confetti

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OMIM:51 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 ebola hemorrhagic fever and ichthyosis histrix, curth-macklin type, and has symptoms including hypertrichosis, clubbing and palmoplantar hyperkeratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10). Affiliated tissues include skin.

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.

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

Related Diseases for Ichthyosis with Confetti

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Graphical network of diseases related to Ichthyosis with Confetti:



Diseases related to ichthyosis with confetti

Symptoms for Ichthyosis with Confetti

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Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

Human phenotypes related to Ichthyosis with Confetti:

 63
id Description HPO Frequency HPO Source Accession
1 hypertrichosis63 rare (5%) HP:0000998
2 clubbing63 rare (5%) HP:0001217
3 palmoplantar hyperkeratosis63 HP:0000972
4 erythroderma63 HP:0001019

Drugs & Therapeutics for Ichthyosis with Confetti

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

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Genetic tests related to Ichthyosis with Confetti:

id Genetic test Affiliating Genes
1 Erythroderma, Ichthyosiform, Congenital Reticular26

Anatomical Context for Ichthyosis with Confetti

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MalaCards organs/tissues related to Ichthyosis with Confetti:

35
Skin

Animal Models for Ichthyosis with Confetti or affiliated genes

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Publications for Ichthyosis with Confetti

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Articles related to Ichthyosis with Confetti:

idTitleAuthorsYear
1
Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. (27208707)
2016
2
Expanding the Mutation SpectrumA ofA Ichthyosis with Confetti. (27664712)
2016
3
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation inA KRT1. (27283508)
2016
4
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. (25774499)
2015
5
Ichthyosis with confetti: clinics, molecular genetics and management. (26381864)
2015
6
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. (24626314)
2014
7
Ichthyosis with confetti: a rare diagnosis and treatment plan. (25012887)
2014
8
Phenotypic Expansion in Ichthyosis With Confetti. (25210951)
2014
9
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
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

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Clinvar genetic disease variations for Ichthyosis with Confetti:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT10NM_000421.3(KRT10): c.1374-2A> GSNVPathogenicrs587776815GRCh37Chr 17, 38975415: 38975415
2KRT10NM_000421.3(KRT10): c.1373+1G> ASNVPathogenicrs587776816GRCh37Chr 17, 38975768: 38975768
3KRT10NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs)duplicationPathogenicrs587776817GRCh37Chr 17, 38975338: 38975338
4KRT10NM_000421.3(KRT10): c.1560_1561delCG (p.Gly521Profs)deletionPathogenicrs267607384GRCh37Chr 17, 38975226: 38975227

Expression for genes affiliated with Ichthyosis with Confetti

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

Pathways for genes affiliated with Ichthyosis with Confetti

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GO Terms for genes affiliated with Ichthyosis with Confetti

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Sources for Ichthyosis with Confetti

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet