Meckel syndrome type 1 [Supplementary Concept]
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
Date introduced: August 25, 2010
MeSH Unique ID: C536133
Heading Mapped to:
Entry Terms:
- Meckel Gruber syndrome
- Gruber syndrome
- Meckel Syndrome
- Meckel Syndrome, Type 1
- Meckel-Gruber Syndrome
- Meckel-Gruber Syndrome, Type 1
- Dysencephalia Splanchnocystica
- Meckel syndrome type1
- Dysencephalia splachnocystica