Marfan syndrome
Findings
No curated finding names Marfan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.
Definition from the Mondo Disease Ontology (MONDO:0007947), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
92 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.
- Aortic aneurysmHPOHP:0004942
- Very frequent (80% to 99% of cases)
- Aortic root aneurysmHPOHP:0002616
- 45 of 58 reported patients
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- 124 of 197 reported patients
- Very frequent (80% to 99% of cases)
- Chronic fatigueHPOHP:0012432
- Very frequent (80% to 99% of cases)
- Disproportionate tall statureHPOHP:0001519
- 38 of 53 reported patients
- Very frequent (80% to 99% of cases)
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
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Marfan syndrome
- Also called
- Marfan syndrome type 1Marfan syndrome, type 1Marfan's syndromeMFSMFS1