katiermullen
commented
6 days ago @elliebroeren Thank you for this new term request!
In reviewing the terms in Mondo, there currently exists the term, MONDO:0008209 'Char syndrome' defined as 'Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.' From Orphanet:46627.
This term is the child of:
- 'has material basis in germline mutation in' some TFAP2B
- 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
- 'patent ductus arteriosus'
- 'syndromic disease'
Does this term suit your needs? If so, we can add the synonym 'TFAP2B-related PDA and Char syndrome spectrum disorder' if you could kindly provide your ORCID or another source for this synonym.
Thank you!
elliebroeren
Preferred gene-related syndrome label TFAP2B-related PDA and Char syndrome spectrum disorder
Synonyms
Parent term (use OLS, or your favorite ontology browser) MONDO:0005453
Definition Any congenital heart disease caused by pathogenic mutations in the TFAP2B gene, which encodes the transcription factor AP-2β. Two overlapping clinical presentations have been associated with TFAP2B mutations; Char syndrome (MIM:169100) and Patent ductus arteriosus 2 (MIM:617035). These phenotypes have been grouped together into one disease entity: TFAP2B - related PDA and Char syndrome spectrum disorder. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies (Orphanet). Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus (PMID: 31012281). 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 (GeneReviews).
Definition source PMID: 31012281
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