Details of Disease | DrugMAP

General Information of Disease (ID: DISSXR87)

Disease Name	Charcot-Marie-Tooth disease type 4B1
Synonyms	Charcot Marie Tooth disease type 4B1; CMT 4B; CMT 4B1; Charcot-Marie-Tooth disease, type 4B; Charcot-Marie-Tooth disease, type 4B1; Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1; Charcot-Marie-Tooth neuropathy, type 4B1; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1; MTMR2 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth neuropathy type 4B1; Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2; CMT4B1; Charcot-Marie-Tooth disease type 4B1
Definition	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
Disease Hierarchy	DISM8IZN: Charcot-Marie-Tooth disease type 4 DISSXR87: Charcot-Marie-Tooth disease type 4B1
Disease Identifiers	MONDO ID MONDO_0011066 MESH ID C535420 UMLS CUI C1832399 OMIM ID 601382 MedGen ID 321947 Orphanet ID 99955 SNOMED CT ID 715803003

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
MTMR1	TTHDERA	Limited	Biomarker	[1]
MTM1	TTY2TCU	Definitive	Genetic Variation	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTMR2	OTNCYGBP	Strong	Autosomal recessive	[3]
SCN2B	OTFAHJ38	Strong	Genetic Variation	[4]
SBF2	OTBB8NO8	Definitive	Biomarker	[5]
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References

1	Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.J Neuropathol Exp Neurol. 2018 Apr 1;77(4):282-295. doi: 10.1093/jnen/nly002.
2	The structure and regulation of myotubularin phosphatases.Curr Opin Struct Biol. 2005 Dec;15(6):614-20. doi: 10.1016/j.sbi.2005.10.016. Epub 2005 Nov 9.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4	Exclusion of the SCN2B gene as candidate for CMT4B.Eur J Hum Genet. 1998 Nov-Dec;6(6):629-34. doi: 10.1038/sj.ejhg.5200220.
5	The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.Hum Mol Genet. 2013 Apr 15;22(8):1493-506. doi: 10.1093/hmg/dds562. Epub 2013 Jan 7.