multiple symmetric lipomatosis with partial lipodystrophy
MONDO:1060153Mondo
Findings
No curated finding names multiple symmetric lipomatosis with partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene.
Definition from the Mondo Disease Ontology (MONDO:1060153), 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.
- MFN2HGNC:16877
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of