Type 2B1 Charcot-Marie-Tooth disease

Also Known As:

Charcot-Marie-Tooth disease, Type 2B1; CMT2B1; Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1; Charcot-Marie-Tooth Neuropathy, Type 2b1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

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 2B1 Charcot-Marie-Tooth disease: 4
- Inborn Genetic Diseases: 11939
  - Laminopathies: 484
    - Type 2B1 Charcot-Marie-Tooth disease: 4
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 2B1 Charcot-Marie-Tooth disease: 4
Nervous System Diseases: 14178

Related Diseases

1.	Familial Partial Lipodystrophy (Dunnigan Syndrome)
2.	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy)
3.	Laminopathies
4.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
5.	Premature Aging

Experts

1.	Araújo-Vilar, David: 1 article (06/2018)
2.	Casanueva, Felipe F: 1 article (06/2018)
3.	Castro-Pais, Ana: 1 article (06/2018)
4.	Guillín-Amarelle, Cristina: 1 article (06/2018)
5.	Mera, Antonio: 1 article (06/2018)
6.	Pardo, Julio: 1 article (06/2018)
7.	Pintos, Elena: 1 article (06/2018)
8.	Rodríguez-Cañete, Leticia: 1 article (06/2018)
9.	Sánchez-Iglesias, Sofía: 1 article (06/2018)
10.	Dubbioso, Raffaele: 1 article (04/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2B1 Charcot-Marie-Tooth disease:

1.	Lamin Type A (Lamin A)IBA 01/01/2009 - "Additionally, Lamin A/C, which is mutated in CMT2B1, was overexpressed in the patient, suggesting that CMT-causing genes may interact in a regulatory network." 04/01/2015 - "Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. "
2.	LaminsIBA 06/01/2018 - "The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. " 06/10/2007 - "Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases sometimes called "laminopathies." Diseases caused by mutations in LMNA encoding A-type lamins include autosomal dominant Emery-Dreifuss muscular dystrophy and related myopathies, Dunnigan-type familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and developmental and accelerated aging disorders. "
3.	Proteins (Proteins, Gene)FDA Link 06/10/2007 - "Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases sometimes called "laminopathies." Diseases caused by mutations in LMNA encoding A-type lamins include autosomal dominant Emery-Dreifuss muscular dystrophy and related myopathies, Dunnigan-type familial partial lipodystrophy, Charcot-Marie-Tooth disease type 2B1 and developmental and accelerated aging disorders. " 04/01/2015 - "Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria. "