Details of Disease

General Information of Disease (ID: DISCCXBU)

Disease Name Char syndrome
Synonyms CHAR syndrome; Char; CHAR; patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits; patent ductus arteriosus with facial dysmorphism and abnormal fifth digits; Char syndrome
Definition Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DIS6SVEE: Syndromic disease
DIS9P8YS: Patent ductus arteriosus
DISCCXBU: Char syndrome
Disease Identifiers
MONDO ID
MONDO_0008209
UMLS CUI
C1868570
OMIM ID
169100
MedGen ID
358356
Orphanet ID
46627
SNOMED CT ID
703534001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TFAP2B OTR1T8E9 Definitive Autosomal dominant [1]
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References

1 Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000 May;25(1):42-6. doi: 10.1038/75578.