Loeys-Dietz syndrome 4
MONDO:0013897Mondo
Findings
No curated finding names Loeys-Dietz syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013897), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
45 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.
- Ascending tubular aorta aneurysmHPOHP:0004970
- 3 of 3 reported patients
- Bifid uvulaHPOHP:0000193
- 3 of 3 reported patients
- Chronic painHPOHP:0012532
- 2 of 2 reported patients
- Aortic root aneurysmHPOHP:0002616
- 23 of 25 reported patients
- High, narrow palateHPOHP:0002705
- 10 of 15 reported patients
- Inguinal herniaHPOHP:0000023
- 26 of 42 reported patients
- Arterial tortuosityHPOHP:0005116
Show the remaining 33
- Tall statureHPOHP:0000098
- 33 of 59 reported patients
- ArachnodactylyHPOHP:0001166
- 35 of 66 reported patients
- Abnormal sternum morphologyHPOHP:0000766
- 16 of 31 reported patients
- RetrognathiaHPOHP:0000278
- 13 of 28 reported patients
- Bruising susceptibilityHPOHP:0000978
- 12 of 26 reported patients
- Dural ectasiaHPOHP:0100775
- 9 of 24 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.
- TGFB2HGNC:11768
- 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 · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Loeys-Dietz syndrome 4
- Also called
- Loeys-Dietz syndrome caused by mutation in TGFB2Loeys-Dietz syndrome type 4TGFB2 Loeys-Dietz syndrome