Type IIC Hereditary Motor And Sensory Neuropathy

mutation in TRPV4

Also Known As:

Hereditary Motor And Sensory Neuropathy, Type IIC; CMT2C; Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C; Charcot-Marie-Tooth Neuropathy, Type 2C; HMSN IIC; HMSN2C

Networked: 4 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 IIC Hereditary Motor And Sensory Neuropathy: 4
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type IIC Hereditary Motor And Sensory Neuropathy: 4

Related Diseases

1.	Vocal Cord Paralysis
2.	Type 1D Charcot-Marie-Tooth disease
3.	Type 4C Charcot-Marie-Tooth disease
4.	3 X-linked recessive Charcot-Marie-Tooth disease

Experts

1.	Acsadi, Gyula: 1 article (12/2018)
2.	Bray, Paula: 1 article (12/2018)
3.	Burns, Joshua: 1 article (12/2018)
4.	Eichinger, Kate: 1 article (12/2018)
5.	Estilow, Timothy: 1 article (12/2018)
6.	Farrar, Michelle: 1 article (12/2018)
7.	Foscan, Maria: 1 article (12/2018)
8.	Herbert, Karen: 1 article (12/2018)
9.	Herrmann, David N: 1 article (12/2018)
10.	Kennedy, Rachel: 1 article (12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type IIC Hereditary Motor And Sensory Neuropathy:

1.	Transient Receptor Potential ChannelsIBA 02/01/2010 - "Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4). " 11/30/2010 - "Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. "
2.	AnkyrinsIBA 02/01/2010 - "Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C."
3.	Riboflavin (Vitamin B2)FDA LinkGeneric 12/01/2018 - "Subsequently, a series of validation projects were conducted based on 128 assessments of: 26 confirmed cases of inherited neuropathy (17 CMT1A, one CMT1B, one CMT1D, one CMT2C, one CMT2S, two CMT4C, one CMTX3, one Riboflavin Transporter Deficiency Type 2, and one unidentified mutation); seven 'at risk' cases and 95 unaffected healthy controls recruited through the NIH-funded Inherited Neuropathies Consortium. "