Cowchock syndrome

Also Known As:

Charcot-Marie-Tooth disease with deafness and mental retardation; Charcot-Marie-Tooth disease, X-linked recessive, 4; NADMR; NAMSD; Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation

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
        Cowchock syndrome: 3
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Cowchock syndrome: 3
    - Hereditary Sensory and Motor Neuropathy: 249
      - Charcot-Marie-Tooth Disease: 1019
        Cowchock syndrome: 3
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Cowchock syndrome: 3
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Cowchock syndrome: 3
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Cowchock syndrome: 3

Related Diseases

1.	Peripheral Nervous System Diseases (PNS Diseases)
2.	Cerebellar Ataxia (Dysmetria)

Experts

1.	Alexander, Michael D: 1 article (12/2019)
2.	Bogdanova-Mihaylova, Petya: 1 article (12/2019)
3.	Chen, Hongying: 1 article (12/2019)
4.	Healy, Daniel G: 1 article (12/2019)
5.	Murphy, Raymond P: 1 article (12/2019)
6.	Murphy, Sinéad M: 1 article (12/2019)
7.	Walsh, Richard A: 1 article (12/2019)
8.	Biesecker, Leslie G: 1 article (12/2012)
9.	Burnett, Barrington G: 1 article (12/2012)
10.	Bönnemann, Carsten: 1 article (12/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cowchock syndrome:

Apoptosis Inducing FactorIBA

12/07/2012 - "Cowchock syndrome is associated with a mutation in apoptosis-inducing factor."
05/12/2023 - "The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as Cowchock syndrome. "
12/01/2019 - "Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described. "