Details of Disease | DrugMAP

General Information of Disease (ID: DIS24U7V)

Disease Name	Beckwith-Wiedemann syndrome due to CDKN1C mutation
Disease Hierarchy	DISH15GR: Beckwith-Wiedemann syndrome DIS24U7V: Beckwith-Wiedemann syndrome due to CDKN1C mutation
Disease Identifiers	MONDO ID MONDO_0016476 UMLS CUI C5680918 MedGen ID 1826157 Orphanet ID 231120

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1C	TTBSUAR	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKN1C	OTASTJ3Q	Supportive	Autosomal dominant	[1]
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References

1	Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.