MCID: ICH031
MIFTS: 17

Ichthyosis with Confetti malady

Genetic diseases, Skin diseases, Rare diseases categories

Aliases & Classifications for Ichthyosis with Confetti

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Ichthyosis with Confetti, Aliases & Descriptions:

Name: Ichthyosis with Confetti 45 10 21 47
Erythroderma, Ichthyosiform, Congenital Reticular 45 60
Congenital Reticular Ichthyosiform Erythroderma 21 47
 
Ichthyosis Variegata 21 47
Crie 21 47
Iwc 21 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 609165
Orphanet47 281190

Summaries for Ichthyosis with Confetti

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OMIM:45 Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin... (609165) more...

MalaCards based summary: Ichthyosis with Confetti, is also known as erythroderma, ichthyosiform, congenital reticular, and has symptoms including hypertrichosis, clubbing and autosomal dominant inheritance. An important gene associated with Ichthyosis with Confetti is KRT10 (keratin 10). Affiliated tissues include skin.

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.

Wikipedia:63 Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform... more...

Related Diseases for Ichthyosis with Confetti

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Symptoms for Ichthyosis with Confetti

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Symptoms by clinical synopsis from OMIM:

609165

Clinical features from OMIM:

609165

HPO human phenotypes related to Ichthyosis with Confetti:

id Description Frequency HPO Source Accession
1 hypertrichosis rare (5%) HP:0000998
2 clubbing rare (5%) HP:0001217
3 autosomal dominant inheritance HP:0000006
4 palmoplantar hyperkeratosis HP:0000972

Drugs & Therapeutics for Ichthyosis with Confetti

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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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MalaCards organs/tissues related to Ichthyosis with Confetti:

31
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
Phenotypic Expansion in Ichthyosis With Confetti. (25210951)
2014
2
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

Variations for Ichthyosis with Confetti

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Clinvar genetic disease variations for Ichthyosis with Confetti:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000421.3(KRT10): c.1374-2A> Gsingle nucleotide variantPathogenicGRCh37Chr 17, 38975415: 38975415
2NM_000421.3(KRT10): c.1373+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 38975768: 38975768
3KRT10NM_000421.3(KRT10): c.1449dupC (p.Gly484Argfs)duplicationPathogenicGRCh37Chr 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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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
  • Proteins
  • Kits and Assays

Sources for Ichthyosis with Confetti

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet