IWC
MCID: ICH031
MIFTS: 15

Ichthyosis with Confetti (IWC) malady

Skin diseases, Rare diseases categories
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Summaries for Ichthyosis with Confetti

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Ichthyosis with Confetti, is also known as congenital reticular ichthyosiform erythroderma An important gene associated with Ichthyosis with Confetti is KRT10 (keratin 10). Affiliated tissues include skin.

Wikipedia:65 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

Description from OMIM:47 609165

Aliases & Classifications for Ichthyosis with Confetti

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Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ichthyosis with confetti 21 47 49
congenital reticular ichthyosiform erythroderma 21 49
ichthyosis variegata 21 49
crie 21 49
iwc 21 49
erythroderma, ichthyosiform, congenital reticular 62


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OMIM47 609165

Related Diseases for Ichthyosis with Confetti

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Symptoms for Ichthyosis with Confetti

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47OMIM
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Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

Drugs & Therapeutics for Ichthyosis with Confetti

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ichthyosis with Confetti

Search NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

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Anatomical Context for Ichthyosis with Confetti

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33MalaCards
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MalaCards organs/tissues related to Ichthyosis with Confetti:

33
Skin

Animal Models for Ichthyosis with Confetti or affiliated genes

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Publications for Ichthyosis with Confetti

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Variations for Ichthyosis with Confetti

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ichthyosis with Confetti:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_000421.3(KRT10): c.1374-2A> Gsingle nucleotide variantPathogenic/card/ichthyosis_with_confettiGRCh37Chr 17, 38975415: 38975415
2NM_000421.3(KRT10): c.1373+1G> Asingle nucleotide variantPathogenic/card/ichthyosis_with_confettiGRCh37Chr 17, 38975768: 38975768
3KRT10NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs)duplicationPathogenic/card/ichthyosis_with_confettiGRCh37Chr 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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis with Confetti

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

Pathways for genes affiliated with Ichthyosis with Confetti

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Compounds for genes affiliated with Ichthyosis with Confetti

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GO Terms for genes affiliated with Ichthyosis with Confetti

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Products for genes affiliated with Ichthyosis with Confetti

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ichthyosis with Confetti

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet