Details of Disease | DrugMAP

General Information of Disease (ID: DIS7QIGL)

Disease Name	MME-related autosomal dominant Charcot Marie Tooth disease type 2
Synonyms	MME-related autosomal dominant hereditary motor and sensory neuropathy type 2; MME-related autosomal dominant CMT2
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS7QIGL: MME-related autosomal dominant Charcot Marie Tooth disease type 2
Disease Identifiers	MONDO ID MONDO_0044657 UMLS CUI C5567450 MedGen ID 1798873 Orphanet ID 497757 SNOMED CT ID 1172585006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MME	DEVN830	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
MME	OT5Q39P8	Supportive	Autosomal dominant	[1]
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References

1	Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.