cutis laxa, autosomal dominant 2
MONDO:0013751Mondo
Findings
No curated finding names cutis laxa, autosomal dominant 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013751), read 2026-09-29. CC BY 4.0.
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.
- FBLN5HGNC:3602
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: cutis laxa, autosomal dominant 2
- Also called
- autosomal dominant cutis laxa caused by mutation in FBLN5cutis laxa, autosomal dominant type 2FBLN5 autosomal dominant cutis laxa