Loeys-Dietz syndrome 2
Findings
No curated finding names Loeys-Dietz syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012427), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
55 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.
- Arterial tortuosityHPOHP:0005116
- 15 of 15 reported patients
- Dilatation of the ductus arteriosusHPOHP:0030745
- 3 of 8 reported patients · Fetal onset
- 0 of 1 reported patient
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 3 of 3 reported patients
- OsteoporosisHPOHP:0000939
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 5 of 9 reported patients · Neonatal onset
- 0 of 2 reported patients
- 0 of 1 reported patient
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.
- TGFBR2HGNC:11773
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2024
- 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 2
- Also called
- Loeys-Dietz syndrome caused by mutation in TGFBR2Loeys-Dietz syndrome type 2Loeys-Dietz syndrome type IITGFBR2 Loeys-Dietz syndrome