Details of Disease | DrugMAP

General Information of Disease (ID: DISH8AXJ)

Disease Name	Autosomal dominant Charcot-Marie-Tooth disease type 2M
Synonyms	CMT2M
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS98MAN: Charcot-Marie-Tooth disease dominant intermediate B DISH8AXJ: Autosomal dominant Charcot-Marie-Tooth disease type 2M
Disease Identifiers	MONDO ID MONDO_0016431 UMLS CUI C4304672 MedGen ID 930341 Orphanet ID 228179 SNOMED CT ID 719514002

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
DNM2	TTVRA5G	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
DNM2	OTUYU2U3	Supportive	Autosomal dominant	[1]
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References

1	A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord. 2008 Apr;18(4):334-8. doi: 10.1016/j.nmd.2008.01.005. Epub 2008 Apr 3.