Joubert Syndrome 2

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OMIM 57 608091 Disease Ontology 12 DOID:0110988 MedGen 42 C1842577

MeSH 44 D002526 D005124 D052177 SNOMED-CT via HPO 69 258211005 204958008 27272007 230745008 72239002 194021007 22006008 95515009 246635007 397540003 7973008 314407005 16596007 39302008 204108000 61142002 17541006 44295002 563001 193662007 205131007 228156007 247578003 91138005 85102008 398151007 398152000 224958001 36440009 432788009 229844004 90145001 253101008 48777005 55999004 253175003 716997004 39539005 more UMLS 73 C1842577

OMIM : ⁵⁷ 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 joubert syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216). Affiliated tissues include brain and eye, 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 : ⁷⁵ 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

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