Details of Disease | DrugMAP

General Information of Disease (ID: DISV0S9Y)

Disease Name	Van Maldergem syndrome 2
Synonyms	VMLDS2; VAN Maldergem syndrome 2; van Maldergem syndrome caused by mutation in FAT4; van Maldergem syndrome 2; FAT4 van Maldergem syndrome; Van Maldergem syndrome type 2
Definition	Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Disease Hierarchy	DISV9YP7: Van Maldergem syndrome DISV0S9Y: Van Maldergem syndrome 2
Disease Identifiers	MONDO ID MONDO_0014242 UMLS CUI C3809875 OMIM ID 615546 MedGen ID 816205

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
FAT4	OT7QONNV	Definitive	Autosomal recessive	[1]
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References

1	Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.