Details of Disease | DrugMAP

General Information of Disease (ID: DIS9ODHZ)

Disease Name	Charcot-Marie-Tooth disease recessive intermediate B
Synonyms	Charcot-Marie-Tooth disease, recessive intermediate B; Charcot-Marie-Tooth neuropathy, recessive Intermediate B; Charcot-Marie-Tooth disease, recessive intermediate, B; CMTRIB; Charcot-Marie-Tooth neuropathy recessive intermediate B; Charcot-Marie-Tooth disease caused by mutation in KARS; autosomal recessive intermediate Charcot-Marie-Tooth disease type B; RI-CMT type B; Charcot-Marie-Tooth disease recessive intermediate type B; Charcot-Marie-Tooth disease, recessive Intermediate type B; KARS Charcot-Marie-Tooth disease; RI-CMTB
Definition	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DIS468CE: Autosomal recessive intermediate Charcot-Marie-Tooth disease DIS9ODHZ: Charcot-Marie-Tooth disease recessive intermediate B
Disease Identifiers	MONDO ID MONDO_0013338 UMLS CUI C3150897 OMIM ID 613641 MedGen ID 462247 Orphanet ID 254334

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
KARS1	OT0EU4SV	Supportive	Autosomal recessive	[1]
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References

1	Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008.