Details of Disease

General Information of Disease (ID: DIS2HBWW)

Disease Name Loeys-Dietz syndrome 6
Synonyms LDS6
Disease Hierarchy
DIS4FUPZ: Loeys-Dietz syndrome
DIS2HBWW: Loeys-Dietz syndrome 6
Disease Identifiers
MONDO ID
MONDO_0030500
UMLS CUI
C5562041
OMIM ID
619656
MedGen ID
1794251

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
SMAD2 OTC6VB4K Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10.