Deafness, Congenital Heart Defects, and Posterior Embryotoxon (DCHE)

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OMIM 58 617992 MeSH 45 D000013

MedGen 43 C1866053

UniProtKB/Swiss-Prot : ⁷⁶ 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 heart disease and familial deafness. An important gene associated with Deafness, Congenital Heart Defects, and Posterior Embryotoxon is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart.

Description from OMIM: 617992

Clinical features from OMIM:

617992

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital Heart Defects, and Posterior Embryotoxon

Search GEO for disease gene expression data for Deafness, Congenital Heart Defects, and Posterior Embryotoxon.