Details of Disease

General Information of Disease (ID: DIS9P1QL)

• Disease Name: Loeys-Dietz syndrome 2
• Synonyms: aortic aneurysm, familial thoracic 3; Marfan syndrome, type II, formerly; Marfan syndrome, type II; LDS2; Loeys-Dietz syndrome caused by mutation in TGFBR2; TGFBR2 Loeys-Dietz syndrome; Loeys-Dietz syndrome 2; Loeys-Dietz syndrome type II; Loeys-Dietz syndrome type 2
• Definition: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
• Disease Hierarchy:
  DIS4FUPZ: Loeys-Dietz syndrome
  DIS9P1QL: Loeys-Dietz syndrome 2
• Disease Identifiers:
  MONDO ID: MONDO_0012427
  MESH ID: C537783
  UMLS CUI: C2674574
  OMIM ID: 610168
  MedGen ID: 382398

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGFBR2	TTZE3P7	moderate	CausalMutation	[1]
TGFBR2	TTZE3P7	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGFBR2	OT3P7GZP	Definitive	Autosomal dominant	[2]

References

• [1] Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.Eur J Med Genet. 2017 Jun;60(6):303-307. doi: 10.1016/j.ejmg.2017.03.010. Epub 2017 Mar 24.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.