Details of Disease

General Information of Disease (ID: DISFQQ5I)

Disease Name Neuronopathy, distal hereditary motor, type 5B
Synonyms
spinal muscular atrophy, distal, type 5B; HMN5B; dHMN 5B; neuropathy, distal hereditary motor, type 5B; HMN 5B; neuronopathy, distal hereditary motor, type VB; neuronopathy, distal hereditary motor caused by mutation in REEP1; REEP1 neuronopathy, distal hereditary motor
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.
Disease Hierarchy
DISTSHF6: Neuronopathy, distal hereditary motor, type 5
DISFQQ5I: Neuronopathy, distal hereditary motor, type 5B
Disease Identifiers
MONDO ID
MONDO_0013884
UMLS CUI
C3553656
OMIM ID
614751
MedGen ID
766570

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
REEP1 OTEMVFX7 Strong Autosomal dominant [1]
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References

1 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5.