Details of Disease | DrugMAP

General Information of Disease (ID: DISO472Y)

Disease Name	Charcot-Marie-Tooth disease axonal type 2L
Synonyms	Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L; Charcot-Marie-Tooth disease type 2L; Charcot-Marie-Tooth disease, axonal, type 2L; Charcot-Marie-Tooth neuropathy, axonal, type 2L; autosomal dominant Charcot-Marie-Tooth disease type 2L; autosomal dominant axonal Charcot-Marie-Tooth disease type 2L; Charcot-Marie-Tooth neuropathy axonal type 2L; Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8; CMT2L; HSPB8 Charcot-Marie-Tooth disease type 2
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISO472Y: Charcot-Marie-Tooth disease axonal type 2L
Disease Identifiers	MONDO ID MONDO_0012096 UMLS CUI C1837552 OMIM ID 608673 MedGen ID 324826 Orphanet ID 99945

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPB8	TTY0OJN	Strong	Autosomal dominant	[1]
HSPB8	TTY0OJN	Strong	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPB8	OT0I83YS	Strong	Autosomal dominant	[1]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[1]
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References

1	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.
2	Phenotype of cardiomyopathy in cardiac-specific heat shock protein B8 K141N transgenic mouse.J Biol Chem. 2013 Mar 29;288(13):8910-21. doi: 10.1074/jbc.M112.368324. Epub 2013 Feb 6.