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Gonadal dysgenesis XX type deafness

A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic symptoms, such as mild intellectual disability and cerebellar and peripheral nervous system involvement. It is caused by mutations in the PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2 (HSD17B4) gene. OMIM: 233400
Also Known As:
17-beta-hydroxysteroid dehydrogenase 4, deficiency of; Ovarian dysgenesis with sensorineural deafness; Peroxisomal bifunctional enzyme complex deficiency; Peroxisomal bifunctional enzyme deficiency; Perrault syndrome
Networked: 21 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Sensorineural Hearing Loss
2. Hearing Loss (Hearing Impairment)
3. Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
4. Peroxisomal Disorders (Peroxisomal Disorder)
5. Primary Ovarian Insufficiency

Experts

1. King, Mary-Claire: 4 articles (11/2014 - 04/2011)
2. Lee, Ming K: 4 articles (11/2014 - 04/2011)
3. Walsh, Tom: 4 articles (11/2014 - 04/2011)
4. Newman, William G: 3 articles (11/2021 - 04/2013)
5. Klevit, Rachel E: 3 articles (11/2014 - 04/2011)
6. Pierce, Sarah B: 3 articles (11/2014 - 04/2011)
7. Sieber, Stephan A: 2 articles (11/2021 - 02/2016)
8. Kawakami, Hideshi: 2 articles (01/2020 - 11/2014)
9. Matsuda, Yukiko: 2 articles (01/2020 - 11/2014)
10. Morino, Hiroyuki: 2 articles (01/2020 - 11/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gonadal dysgenesis XX type deafness:
1. Histidine-tRNA LigaseIBA
2. Mitochondrial DNA (mtDNA)IBA
3. Mitochondrial Proteins (Mitochondrial Protein)IBA
4. Peptide Hydrolases (Proteases)FDA Link
5. Retinaldehyde (Retinal)IBA
6. Fatty Acids (Saturated Fatty Acids)IBA
7. Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
8. Mutant Proteins (Protein, Mutant)IBA
9. DNA Primase (Primase)IBA
10. Growth Hormone (Somatotropin)IBA

Therapies and Procedures

1. Cochlear Implantation