Details of Disease

General Information of Disease (ID: DISG69P9)

Disease Name Neuronopathy, distal hereditary motor, type 2B
Synonyms
HMN2B; neuronopathy, distal hereditary motor, type IIB; HMN 2B; neuropathy, distal hereditary motor, type 2B; neuronopathy, distal hereditary motor caused by mutation in HSPB1; HSPB1 neuronopathy, distal hereditary motor
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DIS162V1: Distal hereditary motor neuropathy type 2
DISG69P9: Neuronopathy, distal hereditary motor, type 2B
Disease Identifiers
MONDO ID
MONDO_0012080
MESH ID
C567084
UMLS CUI
C2608087
OMIM ID
608634
MedGen ID
382017

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
HSPB1 TT9AZWY Moderate Autosomal dominant [1]
HSPB1 TT9AZWY Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSPB1 OTHFZ8ED Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Int J Mol Sci. 2017 Apr 5;18(4):770. doi: 10.3390/ijms18040770.