Mainzer-Saldino Disease

Also Known As:

Conorenal Syndrome; Mainzer-Saldino Syndrome; Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; Saldino-Mainzer disease

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ciliopathies
2.	Infections
3.	Ciliary Motility Disorders (Primary Ciliary Dyskinesia)
4.	Jeune syndrome

Experts

1.	Bole-Feysot, Christine: 2 articles (01/2018 - 11/2013)
2.	Filhol, Emilie: 2 articles (01/2018 - 11/2013)
3.	Nitschké, Patrick: 2 articles (01/2018 - 11/2013)
4.	Saunier, Sophie: 2 articles (01/2018 - 11/2013)
5.	Davis, Erica E: 2 articles (01/2017 - 11/2013)
6.	Katsanis, Nicholas: 2 articles (01/2017 - 11/2013)
7.	Armstrong, Judith: 1 article (12/2020)
8.	Carreras, Elisa: 1 article (12/2020)
9.	Català-Mora, Jaume: 1 article (12/2020)
10.	Díaz-Carcajosa, Jesús: 1 article (12/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mainzer-Saldino Disease:

1.	Retinaldehyde (Retinal)IBA 12/01/2020 - "Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. " 01/01/2018 - "A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "Intraflagellar transport 172 (IFT172) is a newly identified member of IFT proteins closely involved in some rare ciliopathies such as Mainzer-Saldino syndrome (MZSDS) and BBS, though the underpinning causal mechanisms remain largely elusive. " 11/07/2013 - "All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). "
3.	Carrier Proteins (Binding Protein)IBA 01/01/2017 - "Intersection of the proband's phenotypes with known disease genes within the homozygous region yielded a single candidate, IFT140, encoding a retrograde intraflagellar transport protein implicated previously in several ciliopathies, including the phenotypically overlapping Mainzer-Saldino syndrome (MZSDS). "