Loeys-Dietz syndrome 1
Findings
No curated finding names Loeys-Dietz syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012212), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Adult onset
HPO, annotations 2026-09-02
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic fatigueHPOHP:0012432
- 1 of 1 reported patient
- Dural ectasiaHPOHP:0100775
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
- 1 of 1 reported patient
- Hypoplasia of the musculatureHPOHP:0009004
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 2 of 2 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
Show the remaining 46
- MicrognathiaHPOHP:0000347
- 11 of 13 reported patients
- HypertelorismHPOHP:0000316
- 31 of 37 reported patients
- High palateHPOHP:0000218
- 3 of 4 reported patients
- ArachnodactylyHPOHP:0001166
- 25 of 36 reported patients
- Abnormal sternum morphologyHPOHP:0000766
- 24 of 35 reported patients
- Joint hypermobilityHPOHP:0001382
- 25 of 37 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TGFBR1HGNC:11772
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Loeys-Dietz syndrome 1
- Also called
- Furlong syndromeLoeys-Dietz syndrome caused by mutation in TGFBR1Loeys-Dietz syndrome type 1TGFBR1 Loeys-Dietz syndrome