Joubert syndrome 1

Preferred Label : Joubert syndrome 1;

Symbol : JBTS1;

CISMeF acronym : JBTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CORS1; Joubert syndrome; Joubert-boltshauser syndrome; JBTS; Cerebelloparenchymal disorder iv; Cerebellooculorenal syndrome 1; CPD4;

Description : Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). - Genetic Heterogeneity of Joubert Syndrome See also JBTS2 (608091), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; JBTS3 (608629), caused by mutation in the AHI1 gene (608894) on chromosome 6q23; JBTS4 (609583), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (INPP5E, 613037.0002);

Prefixed ID : #213300;

Details

Origin ID

213300;

UMLS CUI

C4551568;

Automatic exact mappings (from CISMeF team)
- inositol polyphosphate-5-phosphatase E [ORDO Gene]
Currated CISMeF NLP mapping
- Agenesis of Cerebellar Vermis [MeSH Supplementary Concept]
- Familial aplasia of the vermis (disorder) [SNOMED CT concept]
- Joubert syndrome [PASCAL descriptor]
- Joubert syndrome [ICD-11 Sub-sub category]
- Joubert syndrome [MedDRA Preferred Term]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [DO Concept]
- Joubert syndrome 1 [Disease (Nov.)]
- Joubert syndrome 1 [MeSH concept]
DO Cross reference
- Joubert syndrome 1 [DO Concept]
Genes related to phenotype
- Inositol polyphosphate-5-phosphatase, 72-kd [OMIM gene]
HPO term(s)
- Abnormal saccadic eye movements [HPO term]
- Abnormal, jerky eye movements [HPO term]
- Abnormality of ocular smooth pursuit [HPO term]
- Agenesis of cerebellar vermis [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brainstem dysplasia [HPO term]
- Central apnea [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chorioretinal coloboma [HPO term]
- Clinodactyly [HPO term]
- Deep posterior interpeduncular fossa [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysgenesis of the cerebellar vermis [HPO term]
- Elongated superior cerebellar peduncle [HPO term]
- Enlarged fossa interpeduncularis [HPO term]
- Epicanthus [HPO term]
- Episodic tachypnea [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemifacial spasm [HPO term]
- Hepatic fibrosis [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of the brainstem [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]
- Macroglossia [HPO term]
- Microcephaly [HPO term]
- Molar tooth sign on MRI [HPO term]
- Neonatal breathing dysregulation [HPO term]
- Nephropathy [HPO term]
- Occipital myelomeningocele [HPO term]
- Oculomotor apraxia [HPO term]
- Optic disc coloboma [HPO term]
- Optic disc pallor [HPO term]
- Plagiocephaly [HPO term]
- Poor head control [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent forehead [HPO term]
- Protruding tongue [HPO term]
- Ptosis [HPO term]
- Renal cyst [HPO term]
- Retinal dysplasia [HPO term]
- Retinal dystrophy [HPO term]
- Self-mutilation [HPO term]
- Strabismus [HPO term]
- Triangular-shaped open mouth [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of Cerebellar Vermis [MeSH Supplementary Concept]
- Agenesis of cerebellar vermis [HPO term]
- Familial aplasia of the vermis (disorder) [SNOMED CT concept]
- Joubert Syndrome [NCIt concept]
- Joubert syndrome [ORDO Disease]
- Joubert syndrome [DO Concept]
- Joubert syndrome [PASCAL descriptor]
- Joubert syndrome (disorder) [SNOMED CT concept]
- Joubert syndrome 1 [MeSH concept]
- familial aplasia of vermis [Radlex concept]
Validated automatic mappings to NTBT
- Joubert Syndrome [NCIt concept]
- Joubert syndrome [DO Concept]

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