DCHE
MCID: DFN191
MIFTS: 20
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Deafness, Congenital Heart Defects, and Posterior Embryotoxon (DCHE)
Categories:
Ear diseases, Fetal diseases, Genetic diseases
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MalaCards integrated aliases for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:
Classifications: |
UniProtKB/Swiss-Prot :
73
Deafness, congenital heart defects, and posterior embryotoxon: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis.
MalaCards based summary : Deafness, Congenital Heart Defects, and Posterior Embryotoxon, also known as dche, is related to alagille syndrome 1 and tetralogy of fallot. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart and brain.
More information from OMIM:
617992
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Diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:![]() |
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MalaCards organs/tissues related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:40
Heart,
Brain
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Articles related to Deafness, Congenital Heart Defects, and Posterior Embryotoxon:
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ClinVar genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:6
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital Heart Defects, and Posterior Embryotoxon:73
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Search
GEO
for disease gene expression data for Deafness, Congenital Heart Defects, and Posterior Embryotoxon.
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