Joubert syndrome 2

Preferred Label : Joubert syndrome 2;

Symbol : JBTS2;

CISMeF acronym : CORS2; JBTS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellooculorenal syndrome 2; CORS2;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0001);

Prefixed ID : #608091;

Details

Origin ID

608091;

UMLS CUI

C1842577;

Automatic exact mappings (from CISMeF team)
- TMEM216 wt Allele [NCIt concept]
- symbol withdrawn CORS2 [HGNC gene]
- transmembrane protein 216 [ORDO Gene]
- transmembrane protein 216 [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert syndrome 2 [DO Concept]
- Joubert syndrome 2 [Disease (Nov.)]
- Joubert syndrome 2 [MeSH concept]
- joubert syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 2 [DO Concept]
Genes related to phenotype
- Transmembrane protein 216 [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Abnormal foot morphology [HPO term]
- Abnormal renal physiology [HPO term]
- Abnormal saccadic eye movements [HPO term]
- Abnormal, jerky eye movements [HPO term]
- Abnormality of ocular smooth pursuit [HPO term]
- Abnormality of renal physiology [HPO term]
- Agenesis of cerebellar vermis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brainstem dysplasia [HPO term]
- Central apnea [HPO term]
- Chorioretinal coloboma [HPO term]
- Deep posterior interpeduncular fossa [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Dysgenesis of the cerebellar vermis [HPO term]
- Elongated superior cerebellar peduncle [HPO term]
- Encephalocele [HPO term]
- Enlarged fossa interpeduncularis [HPO term]
- Episodic tachypnea [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplastic male external genitalia [HPO term]
- Hypotonia [HPO term]
- Impaired saccades [HPO term]
- Impaired smooth pursuit [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microphthalmia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Neonatal breathing dysregulation [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Optic disc coloboma [HPO term]
- Postaxial hand polydactyly [HPO term]
- Renal cyst [HPO term]
- Retinal dystrophy [HPO term]
- Thickened superior cerebellar peduncle [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Joubert syndrome with oculorenal defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 2 [MeSH concept]
- Joubert syndrome 2 [DO Concept]
- Joubert syndrome 2 [Disease (Nov.)]
- joubert syndrome 2 [MeSH Supplementary Concept]

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