Details of Disease

General Information of Disease (ID: DISG09TJ)

Disease Name Loeys-Dietz syndrome 4
Synonyms
aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations; LDS4; Loeys-Dietz syndrome 4; Loeys-Dietz syndrome caused by mutation in TGFB2; TGFB2 Loeys-Dietz syndrome; Loeys-Dietz syndrome type 4
Definition Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.
Disease Hierarchy
DIS4FUPZ: Loeys-Dietz syndrome
DISG09TJ: Loeys-Dietz syndrome 4
Disease Identifiers
MONDO ID
MONDO_0013897
UMLS CUI
C3553762
OMIM ID
614816
MedGen ID
766676

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TGFB2 TTI0KH6 Strong Biomarker [1]
TGFB3 TTWOMY8 Strong Genetic Variation [2]
TGFB2 TTY9TWO Definitive Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT43 OTKWYQ5C Strong Genetic Variation [2]
TGFB2 OTC0TXEP Definitive Autosomal dominant [3]
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References

1 A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.
2 Mutations in a TGF- ligand, TGFB3, cause syndromic aortic aneurysms and dissections.J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.