Details of Disease | DrugMAP

General Information of Disease (ID: DISZ5R0M)

Disease Name	Charcot-Marie-Tooth disease type 2J
Synonyms	Charcot Marie Tooth disease type 2J; autosomal dominant Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, axonal, type 2J; Charcot-Marie-Tooth neuropathy, type 2J; CMT 2J; Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities; Charcot-Marie-Tooth disease, type 2J; Charcot-Marie-Tooth neuropathy type 2J; CMT2J
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISYWZTH: Charcot-Marie-Tooth disease dominant intermediate D DISZ5R0M: Charcot-Marie-Tooth disease type 2J
Disease Identifiers	MONDO ID MONDO_0011903 MESH ID C535417 UMLS CUI C1843153 OMIM ID 607736 MedGen ID 375107 Orphanet ID 99943 SNOMED CT ID 717014003

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
MPZ	OTAR2YXH	Supportive	Autosomal dominant	[1]
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References

1	Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.