Details of Disease | DrugMAP

General Information of Disease (ID: DISJ9NDI)

Disease Name	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISF24LW: Myofibrillar myopathy DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant DISJ9NDI: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Disease Identifiers	MONDO ID MONDO_0018773 UMLS CUI C5568137 MedGen ID 1799560 Orphanet ID 476093 SNOMED CT ID 1179294000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPB8	TTY0OJN	Supportive	Autosomal dominant	[1]
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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	Supportive	Autosomal dominant	[1]
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References

1	Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30.