Details of Disease

General Information of Disease (ID: DIS9SK2V)

Disease Name Neuronopathy, distal hereditary motor, autosomal recessive 7
Synonyms HMNMYO; neuropathy, hereditary motor, with myopathic features
Disease Hierarchy
DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
DIS9SK2V: Neuronopathy, distal hereditary motor, autosomal recessive 7
Disease Identifiers
MONDO ID
MONDO_0030977
UMLS CUI
C5543119
OMIM ID
619216
MedGen ID
1786836

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
VWA1 OTKDZNZO Strong Autosomal recessive [1]
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References

1 Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418.