3MC syndrome 2
Rare disease
Yes
- Definition
- Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- 3MC syndrome 2
- 3MC syndrome 2
- 3MC syndrome 2
- 3MC syndrome caused by mutation in COLEC11
- 3MC syndrome type 2
- 3Mc syndrome type 2
- COLEC11 3MC syndrome
- 3MC2
- Carnevale syndrome
- Severity
- Severe
- Developmental
- Genetic
- Hereditary
- Syndromic
- MONDO ID
- MONDO:0009927
- Parent condition
- MONDO:0017398
Related records
Broader conditions (11)
- 3MC syndrome
- Developmental defect during embryogenesis
- Disease
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- Hereditary disease
- Human disease
- Multiple congenital anomalies/dysmorphic syndrome
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Trials (122)
- "Hyaluronan" Formulation for Dry Mouth in Sleep Apnea Patients
- A Cross Over Case Control Study of a Vibration Positional Device for Treatment of OSA
- A Master Protocol for Orforglipron in Participants With Obstructive Sleep Apnea and Obesity or Overweight
- A Phase III Study Evaluating the Efficacy and Safety of HRS9531 Injection in Subjects With Obstructive Sleep Apnea (OSA) and Obesity
- A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Clinical Study to Evaluate the Efficacy and Safety of HDM1005 Injection in Subjects With Obstructive Sleep Apnea (OSA) and Obesity Not Receiving Positive Airway Pressure (PAP) Therapy
- A Post-Market Clinical Trial for Access and Visualization of the Oropharynx, Hypopharynx and Larynx During Transoral Procedures
- A Simplified Questionnaire to Detect OSA in COPD Patients
- A Study Assessing Adult Patients Referred to an NHS Sleep Service With Suspected Obstructive Sleep Apnoea. This Study Aims to Compare the Sunrise Wearable Diagnostic Device Performance and Potential Inclusion in a NHS Diagnostic Pathway With Oximetry and WatchPAT Which Are Currently Used.
- Acetazolamide as a Means to Mitigate Falling Ventilatory Drive and Drive-dependent OSA
- AD816 Crossover Study
- Adherence to CPAP in Patients With OSA. Ten Year Follow up
- Age and Sleep Apnea Syndrome
- Ambulatory Versus Conventional Approach Diagnosing OSA
- Assessment of Knowledge and Attitude Toward Obstructive Sleep Apnea in Medical Teams
- Assessment of the Performance of a New Reduced Noise Mask Vent
- Attitudes Toward Obstructive Sleep Apnea-Related Cause of Road Traffic Accidents in Thailand Through Well Prepared Educational Video
- Automated Manual Lymphatic Drainage Therapy to Improve Glymphatic Function in OSA Patients
- Biomarkers of Dementia in Chronic Sleep and Breathing Disorders
- Brain During Effort : Effects of Hypoxia With Respiratory Patients
- Breath Analysis in Obstructive Sleep Apnoea