MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Optic Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE Mitochondrial fusion is modulated by different proteins, including mitofusin-1 (MFN1), mitofusin-2 (MFN2) and optic atrophy (OPA-1), while fission is controlled by mitochondrial fission 1 (FIS1), dynamin-related protein 1 (DRP1) and mitochondrial fission factor (MFF). 28131082 2017
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. 26686600 2016
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE Mitofusin-2 (MFN2) mutations are the most common cause of autosomal dominant axonal Charcot-Marie-Tooth disease (CMT, type 2A), sometimes complicated by additional features such as optic atrophy (CMT6) and upper motor neuron involvement (CMT5). 26306937 2015
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. 22189565 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE Model and analyze mitochondrial fusion defects in Drosophila melanogaster heart tubes with tincΔ4Gal4-directed expression of RNA interference (RNAi) for mitochondrial assembly regulatory factor (MARF) and optic atrophy (Opa)1. 21148429 2011
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE Mitofusin-2 gene (MFN2) mutations cause Charcot-Marie-Tooth type 2A (CMT2A), sometimes complicated by additional features such as optic atrophy, hearing loss, upper motor neuron signs and cerebral white-matter abnormalities. 20951041 2011
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE The clinical phenotype may mimic multiple sclerosis when optic atrophy and the characteristic brain lesions of MFN2 on magnetic resonance imaging are present and neuropathy is mild or unrecognized. 21987543 2011
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. 21707411 2011
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease GENOMICS_ENGLAND Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 21715711 2011
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE This study also demonstrates the value of MFN2 studies in cases of congenital axonal neuropathy, especially in cases of dominant inheritance, severe clinical symptoms or additional symptoms such as optic atrophy. 19889647 2010
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease BEFREE We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). 19268652 2009
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE Molecular analysis aimed at detecting mutations of MFN2 could be extremely useful in mild axonal neuropathies with slow evolution and indispensable in cases of dominant inheritance or optic atrophy. 18996695 2008
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI). 18946002 2008
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 GeneticVariation disease BEFREE Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557 2006
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease GENOMICS_ENGLAND