Disease & disorder
Charcot-Marie-Tooth disease X-linked dominant 1
MONDO:0010549
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
Loading mapped interventions…
MONDO disease family
Loading verified ontology relationships…
Recruiting studies by city
Loading research-site locations…
Trial status
Loading…
Trial phase
Loading…
Study start year
Loading…
Investigated drug interventions
Loading…
Background context
Charcot-Marie-Tooth disease X-linked dominant 1
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.