Details of Disease | DrugMAP

General Information of Disease (ID: DISRZRGX)

Disease Name	Charcot-Marie-Tooth disease type 2B1
Synonyms	Charcot Marie Tooth disease type 2B1; Charcot-Marie-Tooth disease, axonal, type 2B1; Charcot-Marie-Tooth neuropathy, type 2B1; Charcot-Marie-Tooth disease, neuronal, type 2B1; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1; Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1; CMT 2B1; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA; Charcot-Marie-Tooth disease neuronal type 2B1; CMT2B1; autosomal recessive axonal CMT4C1; Charcot-Marie-Tooth neuropathy type 2B1; Charcot-Marie-Tooth disease, type 2B1; autosomal recessive Charcot-Marie-Tooth disease type 2B1; AR-CMT2B1; LMNA Charcot-Marie-Tooth disease type 2
Definition	Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISFPEQA: Laminopathy DISRZRGX: Charcot-Marie-Tooth disease type 2B1
Disease Identifiers	MONDO ID MONDO_0011569 MESH ID C537990 UMLS CUI C1854154 OMIM ID 605588 MedGen ID 343064 Orphanet ID 98856 SNOMED CT ID 725048002

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
LMNA	OT3SG7ZR	Strong	Autosomal recessive	[1]
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References

1	Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17.