Details of Disease

General Information of Disease (ID: DISEMTVB)

Disease Name Neuronopathy, distal hereditary motor, type 2C
Synonyms
neuropathy, distal hereditary motor, type 2C; neuronopathy, distal hereditary motor, type IIC; HMN2C; HMN 2C; neuronopathy, distal hereditary motor caused by mutation in HSPB3; HSPB3 neuronopathy, distal hereditary motor
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DIS162V1: Distal hereditary motor neuropathy type 2
DISEMTVB: Neuronopathy, distal hereditary motor, type 2C
Disease Identifiers
MONDO ID
MONDO_0013243
UMLS CUI
C3150619
OMIM ID
613376
MedGen ID
461969

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HSPB3 TTMG98T Limited Autosomal dominant [1]
HSPB3 TTLH8WG Limited Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSPB3 OTE67YM5 Limited Autosomal dominant [1]
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References

1 Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a.