CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
0.810 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
15064763 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
0.810 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
15064763 |
2004 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
0.810 |
Biomarker
|
disease |
MGD |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
0.810 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
Biomarker
|
disease |
BEFREE |
Our report expands the spectrum of MFN2-related manifestation because it indicates that visual symptoms of HMSN VI may enter in the differential with acquired or hereditary acute optic neuropathies, and that severe optic neuropathy is not invariably an early manifestation of the disease but may occur as disease progressed.
|
25957633 |
2015 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
|
24604904 |
2014 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
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 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
|
20350294 |
2010 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
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 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
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 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.
|
16437557 |
2006 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clarified.
|
16835246 |
2006 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.
|
16437557 |
2006 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.
|
16437557 |
2006 |
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
|
26955893 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
|
21715711 |
2011 |