ectopia lentis 1, isolated, autosomal dominant
Findings
No curated finding names ectopia lentis 1, isolated, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007514), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- MicrospherophakiaHPOHP:0030961
- 6 of 6 reported patients
- Shallow anterior chamberHPOHP:0000594
- 6 of 6 reported patients
- Ectopia lentisHPOHP:0001083
- 51 of 57 reported patients
- MyopiaHPOHP:0000545
- 30 of 38 reported patients
- Striae distensaeHPOHP:0001065
- 6 of 29 reported patients
- Joint hypermobilityHPOHP:0001382
- 7 of 37 reported patients
- Reduced upper to lower segment ratioHPOHP:0012773
Show the remaining 6
- Pectus excavatumHPOHP:0000767
- 3 of 37 reported patients
- Tall statureHPOHP:0000098
- 1 of 23 reported patients
- Mitral valve prolapseHPOHP:0001634
- 1 of 31 reported patients
- ScoliosisHPOHP:0002650
- 1 of 31 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 37 reported patients
- Aortic root aneurysmHPOHP:0002616
- 0 of 44 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.
- FBN1HGNC:3603
- Limited · G2P · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: ectopia lentis 1, isolated, autosomal dominant
- Also called
- ECTOL1ectopia lentis, familialFBN1 isolated ectopia lentisisolated ectopia lentis caused by mutation in FBN1