Type 4H Charcot-Marie-Tooth Disease

Also Known As:

Charcot-Marie-Tooth Disease, Type 4H; Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H; Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H; Charcot-Marie-Tooth Neuropathy, Type 4H

Networked: 3 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 4H Charcot-Marie-Tooth Disease: 3
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Type 4H Charcot-Marie-Tooth Disease: 3

Related Diseases

1.	Peripheral Nervous System Diseases (PNS Diseases)

Experts

1.	Dittmer, Keren E: 1 article (01/2022)
2.	Garrick, Dorian J: 1 article (01/2022)
3.	Littlejohn, Mathew D: 1 article (01/2022)
4.	Neeley, Catherine: 1 article (01/2022)
5.	Perrott, Matthew R: 1 article (01/2022)
6.	Reynolds, Edwardo: 1 article (01/2022)
7.	Aoki, Sho: 1 article (12/2021)
8.	Fujita, Yukio: 1 article (12/2021)
9.	Hashiguchi, Akihiro: 1 article (12/2021)
10.	Ikeda, Yoshio: 1 article (12/2021)

Drugs and Biologics

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

1.	Rho Guanine Nucleotide Exchange FactorsIBA 01/01/2022 - "The subtype Charcot-Marie-Tooth disease type 4H (CMT4H) is caused by homozygous mutations in the FGD4 (FYVE, RhoGEF, and PH domain-containing 4) gene. " 12/15/2021 - "Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. "
2.	Proteins (Proteins, Gene)FDA Link 12/15/2021 - "Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive inherited demyelinating neuropathy caused by an FYVE, RhoGEF, and a PH domain-containing protein 4 (FGD4) gene mutation. "
3.	NucleotidesIBA 12/01/2012 - "Here, we have generated a mouse model for the peripheral neuropathy Charcot-Marie-Tooth disease type 4H by constitutively disrupting the mouse orthologue of the suspected culprit gene FGD4 that encodes the small RhoGTPase Cdc42-guanine nucleotide exchange factor Frabin. "