IWC
MCID: ICH031
MIFTS: 15

Ichthyosis with Confetti (IWC) malady

Skin diseases, Rare diseases categories

Summaries for Ichthyosis with Confetti

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

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.

Description from OMIM:48 609165

Aliases & Classifications for Ichthyosis with Confetti

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Sources:
22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

ichthyosis with confetti 22 48 50
congenital reticular ichthyosiform erythroderma 22 50
ichthyosis variegata 22 50
crie 22 50
iwc 22 50
erythroderma, ichthyosiform, congenital reticular 63


External Ids:

OMIM48 609165

Related Diseases for Ichthyosis with Confetti

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Symptoms for Ichthyosis with Confetti

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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ichthyosis with Confetti

Drug clinical trials:

Search ClinicalTrials for Ichthyosis with Confetti

Search NIH Clinical Center for Ichthyosis with Confetti

Search CenterWatch for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

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Anatomical Context for Ichthyosis with Confetti

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34MalaCards
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MalaCards organs/tissues related to Ichthyosis with Confetti:

34
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet