TFAP2B-related congenital heart disease spectrum disorder

MONDO:1010098

Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency.

Also known as: TFAP2B-related PDA and Char syndrome spectrum disorder

75 clinical trials for this condition and its sub-types, 0 tagged with TFAP2B-related congenital heart disease spectrum disorder itself.

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