Details of Disease

General Information of Disease (ID: DIS4FUPZ)

• Disease Name: Loeys-Dietz syndrome
• Synonyms: aortic aneurysm syndrome, Loeys-Dietz type; Loeys-Dietz syndrome; aortic aneurysm syndrome due to TGF-beta receptors anomalies
• Definition: Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISME1TG: Marfan and Marfan-related disorder
  DISVS67S: Vascular disease
  DIS3HIWD: Autosomal dominant disease
  DIS4FUPZ: Loeys-Dietz syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018954
  MESH ID: D055947
  UMLS CUI: C2697932
  MedGen ID: 395827
  Orphanet ID: 60030
  SNOMED CT ID: 446263001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGFB3	TTWOMY8	Limited	Autosomal recessive	[1]
TGFBR2	TTZE3P7	Supportive	Autosomal dominant	[2]
SMAD3	TTHQZV7	moderate	Genetic Variation	[3]
TGFB2	TTI0KH6	Strong	Biomarker	[4]
TGFB3	TTWOMY8	Strong	Biomarker	[4]
TGFBR2	TTZE3P7	Strong	Genetic Variation	[5]
TGFBR1	TTP4520	Definitive	Autosomal dominant	[6]
TGFBR1	TTP4520	Definitive	Biomarker	[7]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Strong	Biomarker	[8]
SLC2A11	DTJK135	Strong	Biomarker	[8]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBN1	OTYCJT63	Limited	Genetic Variation	[4]
TGFB3	OT2LOUQ1	Limited	Autosomal recessive	[1]
TGFBR2	OT3P7GZP	Supportive	Autosomal dominant	[2]
COL3A1	OTT1EMLM	Strong	Biomarker	[9]
SMAD2	OTC6VB4K	Strong	Autosomal dominant	[10]
TGFBR1	OT40S1SJ	Definitive	Autosomal dominant	[6]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30.
• [3] Familial Spontaneous Coronary Artery Dissection and the SMAD-3 Mutation.Am J Cardiol. 2019 Jul 15;124(2):313-315. doi: 10.1016/j.amjcard.2019.04.035. Epub 2019 Apr 23.
• [4] Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.Am J Med Genet A. 2018 Mar;176(3):560-569. doi: 10.1002/ajmg.a.38590. Epub 2018 Jan 19.
• [5] Glomerulonephritis triggered by chronical aortic graft infection in a male with Loeys-Dietz syndrome: A case report.Medicine (Baltimore). 2019 May;98(18):e15496. doi: 10.1097/MD.0000000000015496.
• [6] 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.
• [7] Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764.
• [8] Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19.
• [9] 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.
• [10] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.