Details of Disease | DrugMAP

General Information of Disease (ID: DIS162V1)

Disease Name	Distal hereditary motor neuropathy type 2
Synonyms	dHMN2; distal spinal muscular atrophy type 2; dSMA2
Disease Hierarchy	DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant DIS162V1: Distal hereditary motor neuropathy type 2
Disease Identifiers	MONDO ID MONDO_0015352 MESH ID C580044 UMLS CUI C3711384 MedGen ID 777992 Orphanet ID 139525

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPB1	TT9AZWY	Supportive	Autosomal dominant	[1]
HSPB3	TTMG98T	Supportive	Autosomal dominant	[2]
HSPB8	TTY0OJN	Supportive	Autosomal dominant	[3]
HSPB1	TT9AZWY	Strong	Genetic Variation	[4]
HSPB3	TTLH8WG	Strong	GermlineCausalMutation	[2]
HSPB8	TTY0OJN	Strong	Biomarker	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXO38	OTSZ3768	Supportive	Autosomal dominant	[6]
HSPB1	OTHFZ8ED	Supportive	Autosomal dominant	[1]
HSPB3	OTE67YM5	Supportive	Autosomal dominant	[2]
HSPB8	OT0I83YS	Supportive	Autosomal dominant	[3]
------------------------------------------------------------------------------------

References

1	Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2.
2	Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a.
3	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.
4	HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.Exp Neurol. 2017 Nov;297:101-109. doi: 10.1016/j.expneurol.2017.08.002. Epub 2017 Aug 7.
5	HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes.J Neurochem. 2011 Dec;119(6):1155-61. doi: 10.1111/j.1471-4159.2011.07521.x. Epub 2011 Nov 3.
6	A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.