Details of Disease

General Information of Disease (ID: DISOCTA4)

Disease Name Treacher Collins syndrome 3
Synonyms
TCS3; mandibulofacial dysostosis, Treacher Collins type, autosomal recessive; TREACHER COLLINS syndrome 3; Treacher Collins syndrome 3; Treacher Collins syndrome type 3; Treacher-Collins syndrome caused by mutation in POLR1C; POLR1C Treacher-Collins syndrome
Definition Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.
Disease Hierarchy
DIS2GXZ1: Treacher-Collins syndrome
DISOCTA4: Treacher Collins syndrome 3
Disease Identifiers
MONDO ID
MONDO_0009558
MESH ID
C535707
UMLS CUI
C1855433
OMIM ID
248390
MedGen ID
340868

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POLR1C OT7DVQB0 Strong Autosomal recessive [1]
OSGEP OT38HX9V Definitive Genetic Variation [2]
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References

1 [Anthroposophic medicine]. Tidsskr Nor Laegeforen. 1986 Feb 20;106(5):426-31.
2 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Eur J Hum Genet. 2017 May;25(5):545-551. doi: 10.1038/ejhg.2017.30. Epub 2017 Mar 8.