Details of Disease

General Information of Disease (ID: DIS64061)

Disease Name Treacher Collins syndrome 2
Synonyms TCS2; TREACHER COLLINS syndrome 2; Treacher-Collins syndrome caused by mutation in POLR1D; Treacher Collins syndrome 2; Treacher Collins syndrome type 2; POLR1D Treacher-Collins syndrome
Definition Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.
Disease Hierarchy
DIS2GXZ1: Treacher-Collins syndrome
DIS64061: Treacher Collins syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013385
UMLS CUI
C3150983
OMIM ID
613717
MedGen ID
462333

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
POLR1D OTOCZQNA Definitive Autosomal dominant [1]
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References

1 Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.