Details of Disease | DrugMAP

General Information of Disease (ID: DISM3VHO)

Disease Name	Charcot-Marie-Tooth disease axonal type 2O
Synonyms	Charcot-Marie-Tooth disease, axonal, type 2O; Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth neuropathy, axonal, type 2O; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O; CMT2O; autosomal dominant axonal Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth disease caused by mutation in DYNC1H1; DYNC1H1 Charcot-Marie-Tooth disease; autosomal dominant Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth neuropathy axonal type 2O; Charcot-Marie-Tooth disease, axonal, type 20
Definition	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS3BT2L: Charcot marie tooth disease DISM3VHO: Charcot-Marie-Tooth disease axonal type 2O
Disease Identifiers	MONDO ID MONDO_0013644 UMLS CUI C3280220 OMIM ID 614228 MedGen ID 481850 Orphanet ID 284232 SNOMED CT ID 782829002

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
DYNC1H1	OTD1KRKO	Strong	Autosomal dominant	[1]
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References

1	Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c.