Details of Disease | DrugMAP

General Information of Disease (ID: DISH9F11)

Disease Name	Van Maldergem syndrome 1
Synonyms	VMLDS1; VAN Maldergem syndrome 1; Cerebrofacioarticular syndrome; van Maldergem syndrome 1; van Maldergem syndrome caused by mutation in DCHS1; DCHS1 van Maldergem syndrome; Van Maldergem syndrome type 1
Definition	Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.
Disease Hierarchy	DISV9YP7: Van Maldergem syndrome DISH9F11: Van Maldergem syndrome 1
Disease Identifiers	MONDO ID MONDO_0011070 UMLS CUI C4551950 OMIM ID 601390 MedGen ID 1644627

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
DCHS1	OTW3GX62	Strong	Autosomal recessive	[1]
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References

1	Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients. Eur J Paediatr Neurol. 2016 Sep;20(5):732-7. doi: 10.1016/j.ejpn.2016.05.009. Epub 2016 May 25.