MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Lipomatosis, Multiple Symmetrical ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		0.330 GeneticVariation disease BEFREE Downregulation of CAPSL and upregulation of UCP1 were common features in MSL fat while the known MSL genes MFN2 and LIPE did not show consistent alterations. 31186450 2019
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		0.330 GeneticVariation disease BEFREE Six patients from 5 families carried a homozygous p.Arg707Trp pathogenic variant, representing the largest reported series of MFN2-associated MSL. 30158064 2019
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		0.330 GeneticVariation disease BEFREE These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis. 26085578 2015
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		0.330 GermlineCausalMutation disease ORPHANET These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis. 26085578 2015