HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

KBG syndrome

A hereditary autosomal dominant devleopmental disorder characterized by macrodontia of the upper central INCISORS, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, SEIZURES; and INTELLECTUAL DISABILITY. Mutations in the ANKRD11 gene have been identified. OMIM: 148050
Also Known As:
Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Networked: 22 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Inborn Genetic Diseases (Disease, Hereditary)
2. Neurodevelopmental Disorders
3. Hearing Loss (Hearing Impairment)
4. Craniofacial Abnormalities
5. Abdominal Pain (Pain, Abdominal)

Experts

1. Agolini, Emanuele: 2 articles (01/2021 - 01/2020)
2. Leoni, Chiara: 2 articles (01/2021 - 11/2019)
3. Digilio, Maria Cristina: 2 articles (01/2020 - 11/2019)
4. Gnazzo, Maria: 2 articles (01/2020 - 11/2019)
5. Sinibaldi, Lorenzo: 2 articles (01/2020 - 11/2019)
6. Angle, Brad: 1 article (10/2022)
7. Ashraf, Tazeen: 1 article (10/2022)
8. Baker, Rachel: 1 article (10/2022)
9. Barat-Houari, Mouna: 1 article (10/2022)
10. Chatron, Nicolas: 1 article (10/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to KBG syndrome:
1. Proteins (Proteins, Gene)FDA Link
2. ChromatinIBA
3. Biomarkers (Surrogate Marker)IBA
4. Growth Hormone (Somatotropin)IBA
5. keishibukuryoganIBA
6. Therapeutic UsesIBA
7. Nonsense Codon (Nonsense Mutation)IBA
8. NucleotidesIBA
9. MethyltransferasesIBA
10. Lysine (L-Lysine)FDA Link

Therapies and Procedures

1. Therapeutics
2. Telescopes
3. Sutures (Suture)
4. Appendectomy