Loeys-Dietz syndrome 6
MONDO:0030500Mondo
Findings
No curated finding names Loeys-Dietz syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Adult onset · Late onset · Middle age onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
49 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
- 1 of 1 reported patient
- Bicuspid aortic valveHPOHP:0001647
- 1 of 1 reported patient
- Long faceHPOHP:0000276
- 1 of 1 reported patient
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- OsteoarthritisHPOHP:0002758
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Intervertebral disk degenerationHPOHP:0008419
- 3 of 4 reported patients
- Thoracic aortic aneurysmHPOHP:0012727
- 10 of 15 reported patients
- ArthralgiaHPOHP:0002829
- 7 of 11 reported patients
- Bruising susceptibilityHPOHP:0000978
- 5 of 9 reported patients
- Chronic fatigueHPOHP:0012432
- 2 of 4 reported patients
- Hip osteoarthritisHPOHP:0008843
- 1 of 2 reported patients
Show the remaining 37
- Knee osteoarthritisHPOHP:0005086
- 1 of 2 reported patients
- MigraineHPOHP:0002076
- 5 of 10 reported patients
- Tall statureHPOHP:0000098
- 5 of 10 reported patients
- Umbilical herniaHPOHP:0001537
- 2 of 4 reported patients
- Inguinal herniaHPOHP:0000023
- 5 of 11 reported patients
- ArachnodactylyHPOHP:0001166
- 6 of 14 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.
- SMAD2HGNC:6768
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Loeys-Dietz syndrome 6
- Also called
- LDS6