IWC
MCID: ICH031
MIFTS: 17

Ichthyosis with Confetti (IWC) malady

Skin diseases, Rare diseases categories
Download this MalaCard

Summaries for Ichthyosis with Confetti

About this section


Fully expand this MalaCard
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 based summary: Ichthyosis with Confetti, is also known as ichthyosis variegata and has symptoms including 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:46 609165

Aliases & Classifications for Ichthyosis with Confetti

About this section

Ichthyosis with Confetti, Aliases & Descriptions:

Name: Ichthyosis with Confetti 21 46 48 62
Ichthyosis Variegata 21 48 62
Crie 21 48 62
 
Iwc 21 48 62
Congenital Reticular Ichthyosiform Erythroderma 21 48
Erythroderma, Ichthyosiform, Congenital Reticular 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
ichthyosis with confetti:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 609165

Related Diseases for Ichthyosis with Confetti

About this section

Symptoms for Ichthyosis with Confetti

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Ichthyosis with Confetti

Search NIH Clinical Center for Ichthyosis with Confetti

Genetic Tests for Ichthyosis with Confetti

About this section

Anatomical Context for Ichthyosis with Confetti

About this section

MalaCards organs/tissues related to Ichthyosis with Confetti:

32
Skin

Animal Models for Ichthyosis with Confetti or affiliated genes

About this section

Publications for Ichthyosis with Confetti

About this section

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

About this section

Clinvar genetic disease variations for Ichthyosis with Confetti:

6
id Gene Name 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

About this section
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

About this section

Compounds for genes affiliated with Ichthyosis with Confetti

About this section

GO Terms for genes affiliated with Ichthyosis with Confetti

About this section

Products for genes affiliated with Ichthyosis with Confetti

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Ichthyosis with Confetti

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet