Details of Disease

General Information of Disease (ID: DIS89MRX)

Disease Name Neuronopathy, distal hereditary motor, type 2A
Synonyms
neuropathy, distal hereditary motor, type 2A; HMN 2A; Charcot-Marie-Tooth disease, spinal, 2A; HMN2A; spinal muscular atrophy, distal, adult, autosomal dominant, 2A; neuronopathy, distal hereditary motor, type IIA; neuronopathy, distal hereditary motor caused by mutation in HSPB8; HSPB8 neuronopathy, distal hereditary motor
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DIS162V1: Distal hereditary motor neuropathy type 2
DIS89MRX: Neuronopathy, distal hereditary motor, type 2A
Disease Identifiers
MONDO ID
MONDO_0008025
MESH ID
C563561
UMLS CUI
C1834692
OMIM ID
158590
MedGen ID
322471

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
HSPB8 TTY0OJN moderate Genetic Variation [1]
HSPB8 TTY0OJN Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSPB8 OT0I83YS Strong Autosomal dominant [2]
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References

1 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25.
2 Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2.