Joubert Syndrome 2 (JBTS2)

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Disease Ontology 12 DOID:0110988 OMIM 56 608091 OMIM Phenotypic Series 56 PS213300 MeSH 43 C536294 D002526 D005124 D052177 more

MedGen 41 C1842577 SNOMED-CT via HPO 68 16596007 17541006 193662007 194021007 204108000 204958008 205131007 22006008 224958001 228156007 229844004 230745008 246635007 247578003 253101008 253175003 258211005 27272007 314407005 36440009 39302008 39539005 397540003 398151007 398152000 432788009 44295002 48777005 55999004 563001 61142002 716997004 72239002 7973008 85102008 90145001 91138005 95515009 more UMLS 71 C1842577

OMIM : ⁵⁶ Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999). (608091)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to joubert syndrome 16 and oculomotor apraxia, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, eye and kidney, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : ¹² A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 2: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Clinical features from OMIM:

608091

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Search GEO for disease gene expression data for Joubert Syndrome 2.