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Meckel syndrome

Pathology: - renal cysts - developmental anomalies of the central nervous system (generally encephalocele) - hepatic duct dysplasia Genetics: - autosomal recessive - associated with defects in MKS1 gene (type 1) - associated with defects in RPGRIP1L gene (type 2?) - associated with defects in TMEM67 gene (type 3) - associated with defects in CEP290 (type 4) Clinical manifestations: - variable - developmental anomalies of the CNS (typically encephalocele) - cysts, renal cysts - hepatic duct dysplasia - polydactyly

General

genetic syndrome (multisystem disorder) developmental disorder

Database Correlations

OMIM correlations

References

  1. UniProt :accession Q5HYA8
  2. OMIM :accession 607361