Details of Disease

General Information of Disease (ID: DISLBBZC)

Disease Name Charcot-Marie-Tooth disease, axonal, type 2EE
Synonyms CMT2EE; Charcot-Marie-Tooth Neuropathy, Type 2Ee; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
Disease Hierarchy
DISR30O9: Charcot-Marie-Tooth disease type 2
DISLBBZC: Charcot-Marie-Tooth disease, axonal, type 2EE
Disease Identifiers
MONDO ID
MONDO_0032728
UMLS CUI
C5193076
OMIM ID
618400
MedGen ID
1677426

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
MPV17 OT579DMU Strong Autosomal recessive [1]
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References

1 A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 2015 Oct 5;15:179. doi: 10.1186/s12883-015-0430-1.