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Meckel syndrome type 1

A severe hereditary disorder with autosomal recessive inheritance. There is considerable variability (GENETIC PLEIOTROPY) in the range of anomalies observed in affected individuals caused by dysfunction of primary CILIA during early EMBRYOGENESIS. These include a combination of renal CYSTS, encephalocele, HEPATIC DUCT dysplasia and cysts, and POLYDACTYLY. Mutations in the MKS1 gene have been identified. OMIM: 249000
Also Known As:
Dysencephalia Splanchnocystica; Dysencephalia splachnocystica; Gruber syndrome; Meckel Gruber syndrome; Meckel Syndrome; Meckel Syndrome, Type 1; Meckel syndrome type1; Meckel-Gruber Syndrome; Meckel-Gruber Syndrome, Type 1
Networked: 69 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ciliopathies
2. Agenesis of Cerebellar Vermis
3. Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
4. Inborn Genetic Diseases (Disease, Hereditary)
5. Orofaciodigital Syndromes (Orofaciodigital Syndrome)

Experts

1. Johnson, Colin A: 10 articles (01/2017 - 02/2006)
2. Blacque, Oliver E: 7 articles (10/2018 - 03/2009)
3. Katsanis, Nicholas: 7 articles (01/2017 - 01/2006)
4. Leroux, Michel R: 7 articles (01/2017 - 03/2009)
5. Reiter, Jeremy F: 5 articles (10/2017 - 07/2011)
6. Li, Chunmei: 5 articles (03/2016 - 03/2009)
7. Bergmann, Carsten: 4 articles (01/2022 - 01/2008)
8. Attie-Bitach, Tania: 3 articles (01/2017 - 02/2006)
9. Szymanska, Katarzyna: 3 articles (01/2017 - 01/2014)
10. Wheway, Gabrielle: 3 articles (01/2017 - 05/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Meckel syndrome type 1:
1. Proteins (Proteins, Gene)FDA Link
2. DNA (Deoxyribonucleic Acid)IBA
3. CollagenIBA
4. Membrane Proteins (Integral Membrane Proteins)IBA
5. alpha-Fetoproteins (alpha-Fetoprotein)IBA
6. Hepatocyte Nuclear Factor 1IBA
7. Apoptosis Regulatory ProteinsIBA
8. Collagen Type IV (Type IV Collagen)IBA
9. Nerve Growth Factor Receptor (Nerve Growth Factor Receptor, Low Affinity)IBA
10. GTP Phosphohydrolases (GTPases)IBA

Therapies and Procedures

1. Airway Management
2. Phototherapy (Light Therapy)
3. Gastrostomy
4. Decompression
5. General Anesthesia