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Barakat syndrome

An autosomal dominant disorder characterized by sensorineural hearing loss, female genital abnormalities, renal abnormalities, and hypoparathyroidism. Inherited and de novo mutations resulting in HAPLOINSUFFICIENCY have been identified in the GATA3 gene. OMIM: 146255
Also Known As:
HDR syndrome; Hypoparathyroidism, Sensorineural Deafness, And Renal Disease; Nephrosis, nerve deafness, and hypoparathyroidism
Networked: 31 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Breast Neoplasms (Breast Cancer)
2. Carcinogenesis
3. Hypoparathyroidism
4. Deafness (Deaf Mutism)
5. Inborn Genetic Diseases (Disease, Hereditary)

Experts

1. Usui, Takeshi: 4 articles (10/2019 - 01/2013)
2. Thakker, Rajesh V: 4 articles (10/2009 - 05/2004)
3. Nesbit, M Andrew: 3 articles (10/2009 - 05/2004)
4. van Looij, Marjolein A J: 2 articles (01/2006 - 06/2004)
5. van Zanten, Bert G A: 2 articles (01/2006 - 06/2004)
6. Karis, Alar: 2 articles (04/2005 - 06/2004)
7. Ali, Asif: 2 articles (04/2005 - 05/2004)
8. Dawy, Zaher: 1 article (11/2021)
9. El-Assaad, Atlal: 1 article (11/2021)
10. Khalil, Athar: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Barakat syndrome:
1. Estrogen ReceptorsIBA
2. GATA3 Transcription FactorIBA
3. Transcription Factors (Transcription Factor)IBA
4. DNA (Deoxyribonucleic Acid)IBA
5. Proteins (Proteins, Gene)FDA Link
6. Carrier Proteins (Binding Protein)IBA
7. Nonsense Codon (Nonsense Mutation)IBA
8. GATA Transcription FactorsIBA
9. RNA Splice SitesIBA
10. Complementary DNA (cDNA)IBA

Therapies and Procedures

1. Therapeutics