Type 2K Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2K; CMT 2K; Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k; Charcot-Marie-Tooth disease, axonal, Type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K; Cmt2k

Networked: 10 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 2K Charcot-Marie-Tooth disease: 10
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2K Charcot-Marie-Tooth disease: 10

Related Diseases

1.	Type 4A Charcot-Marie-Tooth disease
2.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
3.	Recessive Intermediate A Charcot-Marie-Tooth Disease
4.	Type 2A Charcot-Marie-Tooth disease

Experts

1.	Lv, He: 2 articles (01/2021 - 08/2017)
2.	Wang, Zhaoxia: 2 articles (01/2021 - 08/2017)
3.	Wu, Rui: 2 articles (01/2021 - 08/2017)
4.	Yuan, Yun: 2 articles (01/2021 - 08/2017)
5.	Bonneau, Dominique: 2 articles (01/2020 - 04/2009)
6.	Cassereau, Julien: 2 articles (01/2020 - 04/2009)
7.	Chevrollier, Arnaud: 2 articles (01/2020 - 04/2009)
8.	Gueguen, Naïg: 2 articles (01/2020 - 04/2009)
9.	Procaccio, Vincent: 2 articles (01/2020 - 04/2009)
10.	Reynier, Pascal: 2 articles (01/2020 - 04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2K Charcot-Marie-Tooth disease:

1.	GDAP proteinIBA 01/01/2022 - "A specific mutation of the ganglioside-induced-differentiation-associated protein 1 (GDAP1) gene is associated with the axonal subtype of CMT (CMT2K) which is inherited in an autosomal dominant fashion, as well as the demyelinating subtype (CMT4A) which is inherited in an autosomal recessive pattern. " 01/01/2022 - "Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause two types of CMT, demyelinating CMT4A and axonal CMT2K. " 03/01/2018 - "Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) have been associated with both subtypes of Charcot-Marie-Tooth (CMT) disease, autosomal recessive (CMT4A and AR-CMT2K) and autosomal dominant (AD-CMT2K). " 12/01/2010 - "Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). " 01/01/2021 - "Mutations in ganglioside-induced differentiation-associated-protein 1 (GDAP1) are associated with several subtypes of Charcot-Marie-Tooth (CMT) disease, including autosomal recessive and demyelinating (CMT4A); autosomal recessive and axonal (AR-CMT2K); autosomal dominant and axonal (CMT2K); and an intermediate and recessive form (CMTRIA). "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Dysfunction of these two proteins leads to different subtypes of Charcot-Marie-Tooth disease type 2A (CMT2A) and CMT2K. " 04/01/2015 - "Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane, cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating recessive (CMT4A) forms of Charcot-Marie-Tooth (CMT) neuropathy. " 04/01/2009 - "Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. "
3.	ResveratrolIBA 01/01/2020 - "Moreover, complex I activity is further restored in CMT2K mutant cell lines exposed to resveratrol. "