Details of Disease | DrugMAP

General Information of Disease (ID: DIS606L5)

Disease Name	Menke-Hennekam syndrome 1
Synonyms	MKHK1; Menke-Hennekam syndrome 1
Disease Hierarchy	DIS1AQHM: Menke-Hennekam syndrome DIS606L5: Menke-Hennekam syndrome 1
Disease Identifiers	MONDO ID MONDO_0020763 UMLS CUI C5193034 OMIM ID 618332 MedGen ID 1675629

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
CREBBP	TTFRCTK	Strong	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
CREBBP	OTPA4QGM	Strong	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.