Details of Disease | DrugMAP

General Information of Disease (ID: DISQAYDD)

Disease Name	Charcot-Marie-Tooth disease type 4B3
Synonyms	Charcot-Marie-Tooth disease, type 4B3; SBF1 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1; CMT4B3; Charcot-Marie-Tooth disease with focally folded myelin
Definition	Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).
Disease Hierarchy	DISM8IZN: Charcot-Marie-Tooth disease type 4 DISQAYDD: Charcot-Marie-Tooth disease type 4B3
Disease Identifiers	MONDO ID MONDO_0014117 UMLS CUI C3695063 OMIM ID 615284 MedGen ID 811329 Orphanet ID 363981 SNOMED CT ID 763345008

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
SBF1	OTW6I9RV	Strong	Autosomal recessive	[1]
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References

1	Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1. J Clin Invest. 2002 May;109(9):1165-72. doi: 10.1172/JCI12589.