Details of Disease

General Information of Disease (ID: DISGXQJM)

Disease Name Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Synonyms Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B; CMT2A2B; Charcot-Marie-Tooth disease type 2A2B; Charcot-Marie-Tooth disease, axonal, type 2A2B
Definition
An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DISGXQJM: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Disease Identifiers
MONDO ID
MONDO_0014906
UMLS CUI
C4310725
OMIM ID
617087
MedGen ID
934692

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MFN2 OTPYN8A3 Strong Autosomal recessive [1]
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References

1 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19.