Joubert syndrome (and related disorders) (OMIM 213300).
Joubert syndrome (JS) and related disorders are characterized by the 'molar tooth sign' (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental delay, ataxia, irregular breathing pattern and abnormal eye movements. Combinations of additional features such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations define clinical sub-types. Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified.
Parisi
Melissa A
MA
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195-6320, USA. mparisi@u.washington.edu
Doherty
Dan
D
Chance
Phillip F
PF
Glass
Ian A
IA
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D033942:Adaptor Proteins, Vesicular Transport; D000951:Antigens, Neoplasm / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins; D009363:Neoplasm Proteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D013577:Syndrome
C487178:AHI1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D009363:Neoplasm Proteins; D011506:Proteins