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Kabuki syndrome

A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).
Also Known As:
Kabuki Make-Up Syndrome; Kabuki Makeup Syndrome; Kabuki make up syndrome; Niikawa-Kuroki syndrome
Networked: 105 relevant articles (2 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypoglycemia (Reactive Hypoglycemia)
2. Intellectual Disability (Idiocy)
3. Sotos Syndrome
4. Rare Diseases (Rare Disease)
5. Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune)

Experts

1. Bjornsson, Hans T: 7 articles (10/2022 - 10/2014)
2. Zhang, Li: 7 articles (10/2022 - 10/2014)
3. Schott, Dina A: 5 articles (01/2021 - 01/2016)
4. Hansen, Kasper D: 4 articles (10/2019 - 10/2014)
5. Stumpel, Constance T R M: 4 articles (01/2019 - 01/2016)
6. Sadikovic, Bekim: 3 articles (01/2022 - 01/2017)
7. Bodamer, Olaf: 3 articles (11/2021 - 01/2020)
8. Daly, Tara: 3 articles (11/2021 - 01/2020)
9. Benjamin, Joel S: 3 articles (01/2020 - 10/2014)
10. Ge, Kai: 3 articles (01/2020 - 03/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Kabuki syndrome:
1. ChromatinIBA
2. Diazoxide (Hyperstat)FDA Link
3. Histone Deacetylase InhibitorsIBA
4. Lysine (L-Lysine)FDA Link
5. Histones (Histone)IBA
6. MethyltransferasesIBA
7. Histone MethyltransferasesIBA
8. Proteins (Proteins, Gene)FDA Link
9. Histone DemethylasesIBA
10. Hormones (Hormone)IBA

Therapies and Procedures

1. Therapeutics
2. Anesthesia
3. Kidney Transplantation
4. Ketogenic Diet
5. Hormone Replacement Therapy (Therapy, Hormone Replacement)