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

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OMIM 57 617992 MedGen 42 C1866053

MeSH 44 D000013

UniProtKB/Swiss-Prot : ⁷⁵ 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 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.