Details of Disease

General Information of Disease (ID: DISD43VO)

• Disease Name: Loeys-Dietz syndrome 1
• Synonyms: LDS1; Loeys-Dietz aortic aneurysm syndrome; aortic aneurysm, familial thoracic 5; Loeys-Dietz syndrome caused by mutation in TGFBR1; Furlong syndrome; Loeys-Dietz syndrome 1; Loeys-Dietz syndrome type 1; TGFBR1 Loeys-Dietz syndrome
• Definition: A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.
• Disease Hierarchy:
  DIS4FUPZ: Loeys-Dietz syndrome
  DISD43VO: Loeys-Dietz syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0012212
  MESH ID: D055947
  UMLS CUI: C4551955
  OMIM ID: 609192
  MedGen ID: 1646567
  Orphanet ID: 97295

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGFBR1	TTP4520	Limited	Biomarker	[1]
SMAD3	TTHQZV7	Disputed	Biomarker	[2]
TGFB2	TTI0KH6	Disputed	Biomarker	[2]
TGFBR2	TTZE3P7	Strong	Biomarker	[2]
TGFBR1	TTP4520	Definitive	Autosomal dominant	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGFBR1	OT40S1SJ	Definitive	Autosomal dominant	[3]

References

• [1] Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.J Cardiovasc Transl Res. 2016 Feb;9(1):3-11. doi: 10.1007/s12265-016-9673-5. Epub 2016 Feb 17.
• [2] Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349.
• [3] Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. Clin Genet. 2008 Mar;73(3):290-3. doi: 10.1111/j.1399-0004.2007.00942.x. Epub 2007 Dec 6.