Details of Disease | DrugMAP

General Information of Disease (ID: DISOJA8B)

Disease Name	Charcot-Marie-Tooth disease type 2I
Synonyms	Charcot-Marie-Tooth disease, axonal, type 2I; autosomal dominant Charcot-Marie-Tooth disease type 2I; Charcot Marie Tooth disease type 2I; Charcot-Marie-Tooth neuropathy, type 2I; CMT 2I; Charcot-Marie-Tooth disease, type 2I; Charcot-Marie-Tooth neuropathy type 2I; CMT2I
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISYWZTH: Charcot-Marie-Tooth disease dominant intermediate D DISOJA8B: Charcot-Marie-Tooth disease type 2I
Disease Identifiers	MONDO ID MONDO_0011889 MESH ID C535416 UMLS CUI C3888087 OMIM ID 607677 MedGen ID 854756 Orphanet ID 99942 SNOMED CT ID 717013009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPZ	OTAR2YXH	Supportive	Autosomal dominant	[1]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[2]
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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1	Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14].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.
2	A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum Genet. 2004 May;114(6):527-33. doi: 10.1007/s00439-004-1102-1. Epub 2004 Mar 12.