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CHARGE Syndrome

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Also Known As:
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Hall-Hittner Syndrome; CHARGE Associations; CHARGE Syndrome, Familial; CHARGE Syndromes; CHARGE Syndromes, Familial; Familial CHARGE Syndromes; Hall Hittner Syndrome; CHARGE Association; Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Familial CHARGE Syndrome
Networked: 223 relevant articles (1 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Coloboma (Colobomas)
2. Choanal Atresia
3. Inborn Genetic Diseases (Disease, Hereditary)
4. Autism Spectrum Disorder
5. Goldenhar Syndrome (Hemifacial Microsomia)

Experts

1. Martin, Donna M: 18 articles (01/2021 - 03/2010)
2. Pauli, Silke: 7 articles (11/2021 - 07/2010)
3. van Ravenswaaij-Arts, Conny M A: 7 articles (11/2021 - 09/2008)
4. Blake, Kim: 7 articles (01/2021 - 03/2005)
5. Hurd, Elizabeth A: 7 articles (01/2021 - 09/2010)
6. Kosaki, Kenjiro: 7 articles (11/2017 - 09/2005)
7. Scacheri, Peter C: 6 articles (01/2018 - 03/2010)
8. Hoefsloot, Lies H: 6 articles (01/2016 - 09/2008)
9. Raphael, Yehoash: 5 articles (01/2021 - 09/2010)
10. Pilon, Nicolas: 4 articles (01/2022 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to CHARGE Syndrome:
1. Erythromycin (Erycette)FDA LinkGeneric
2. Domperidone (Domperidon)IBA
3. DNA HelicasesIBA
4. Proteins (Proteins, Gene)FDA Link
5. Carrier Proteins (Binding Protein)IBA
6. ChromatinIBA
7. Growth Hormone (Somatotropin)IBA
8. EnzymesIBA
9. Thalidomide (Thalomid)FDA Link
10. Anesthetics (Anesthetic Agents)IBA

Therapies and Procedures

1. Cochlear Implantation
2. Cochlear Implants (Cochlear Implant)
3. Airway Management
4. Ligation
5. Therapeutics