Type 4B2 Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 4B2; CMT4B2; Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2; Charcot-Marie-Tooth Neuropathy, Type 4B2

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 4B2 Charcot-Marie-Tooth disease: 9
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 4B2 Charcot-Marie-Tooth disease: 9

Related Diseases

1.	Type 4B1 Charcot-Marie-Tooth disease

Experts

1.	Robinson, Fred L: 2 articles (04/2013 - 03/2008)
2.	Mazza, Tommaso: 1 article (04/2016)
3.	Mehawej, Cybel: 1 article (04/2016)
4.	Mégarbané, Andre: 1 article (04/2016)
5.	Romani, Marta: 1 article (04/2016)
6.	Valente, Enza Maria: 1 article (04/2016)
7.	Alberti, Antonia: 1 article (06/2015)
8.	Bellone, Emilia: 1 article (06/2015)
9.	Callegari, Ilaria: 1 article (06/2015)
10.	Capponi, Simona: 1 article (06/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 4B2 Charcot-Marie-Tooth disease:

1.	myotubularinIBA 02/01/2003 - "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15." 04/01/2016 - "Among these, CMT4B includes 3 forms related to genes of the myotubularin family, namely CMT4B1 (MTMR2), CMT4B2 (MTMR13/SBF2), and CMT4B3 (MTMR5/SBF1). " 06/01/2015 - "Whereas myelin outfoldings are a pathological hallmark of autosomal recessive CMT4B1 and CMT4B2, due to mutations in myotubularin-related 2 (MTMR2) and 13 (MTMR13) genes respectively, they may also occur in nerve biopsies from CMT1B patients. " 12/15/2007 - "Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes CMT4B1 or CMT4B2. " 09/20/2007 - "This disorder is genetically heterogeneous, but thus far, mutations in myotubularin-related 2 (MTMR2) and MTMR13 genes have been shown to underlie CMT4B1 and CMT4B2, respectively. "
2.	Proteins (Proteins, Gene)FDA Link 12/01/2014 - "CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. " 03/25/2008 - "CMT4B is caused by recessive mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2). " 02/01/2003 - "SBF2 is a member of the pseudo-phosphatase branch of myotubularins and was an obvious candidate for CMT4B2 by virtue of its striking homology to myotubularin-related protein 2 (MTMR2), causing another form of autosomal recessive CMT with outfoldings of the myelin sheaths. " 04/15/2013 - "CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lysosomal membrane traffic. "
3.	Phosphatidylinositols (Phosphatidylinositol)IBA 11/01/2008 - "Genes involved in phosphoinositide regulation cause CMT4; MTMR2 mutation in CMT 4B1 and MTMR13/SBF2 mutation in CMT4B2. " 04/15/2013 - "CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lysosomal membrane traffic. "
4.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 02/01/2003 - "SBF2 is a member of the pseudo-phosphatase branch of myotubularins and was an obvious candidate for CMT4B2 by virtue of its striking homology to myotubularin-related protein 2 (MTMR2), causing another form of autosomal recessive CMT with outfoldings of the myelin sheaths. "
5.	LipidsIBA 04/15/2013 - "CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lysosomal membrane traffic. "
6.	phosphatidylinositol 3,5-diphosphateIBA 04/15/2013 - "CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lysosomal membrane traffic. "
7.	phosphatidylinositol 3-phosphateIBA 04/15/2013 - "CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, lipids which regulate endo-lysosomal membrane traffic. "