HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Agenesis of Cerebellar Vermis

A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300
Also Known As:
Cerebellar vermis agenesis; Cerebello-Oculo-Renal Syndrome; Cerebellooculorenal syndrome 1; Cerebelloparenchymal Disorder IV; Cerebelloparenchymal disorder 4; Familial Aplasia of the Vermis; Joubert Syndrome; Joubert syndrome 1; Joubert-Boltshauser syndrome
Networked: 160 relevant articles (3 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. COVID-19
2. Inborn Genetic Diseases (Disease, Hereditary)
3. Ciliopathies
4. Meckel syndrome type 1
5. Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)

Experts

1. Gunay-Aygun, Meral: 8 articles (01/2019 - 12/2015)
2. Glass, Ian A: 8 articles (12/2018 - 03/2004)
3. Doherty, Dan: 7 articles (01/2020 - 07/2007)
4. Roepman, Ronald: 7 articles (01/2020 - 07/2007)
5. Sayer, John A: 7 articles (01/2020 - 06/2006)
6. Valente, Enza Maria: 7 articles (01/2019 - 06/2006)
7. Gleeson, Joseph G: 7 articles (01/2016 - 06/2006)
8. Alkuraya, Fowzan S: 6 articles (01/2020 - 01/2014)
9. Gahl, William A: 6 articles (12/2018 - 12/2015)
10. Vilboux, Thierry: 6 articles (12/2018 - 12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Agenesis of Cerebellar Vermis:
1. Anesthetics (Anesthetic Agents)IBA
2. NucleotidesIBA
3. Proteins (Proteins, Gene)FDA Link
4. Retinaldehyde (Retinal)IBA
5. Messenger RNA (mRNA)IBA
6. Monomeric GTP-Binding ProteinsIBA
7. GTP Phosphohydrolases (GTPases)IBA
8. Phosphoric Monoester Hydrolases (Phosphatases)IBA
9. Hypnotics and Sedatives (Sedatives)IBA
10. EnzymesIBA

Therapies and Procedures

1. Tracheostomy
2. Colonic Pouches (S Pouch)
3. Intravenous Anesthesia
4. Therapeutics
5. General Anesthesia