Joubert syndrome 6

Preferred Label : Joubert syndrome 6;

Symbol : JBTS6;

CISMeF acronym : JBTS6;

Type : Phenotype, molecular basis known;

Description : Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0006);

Prefixed ID : #610688;

Details

Origin ID

610688;

UMLS CUI

C1853153;

Automatic exact mappings (from CISMeF team)
- transmembrane protein 67 [ORDO Gene]
- transmembrane protein 67 [HGNC gene]
Broader ORDO disease(s)
- Joubert syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Joubert syndrome 6 [DO Concept]
- Joubert syndrome 6 [MeSH concept]
- joubert syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 6 [DO Concept]
Genes related to phenotype
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Blindness [HPO term]
- Breathing dysregulation [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chorioretinal coloboma [HPO term]
- Deep posterior interpeduncular fossa [HPO term]
- Elongated superior cerebellar peduncle [HPO term]
- Enlarged fossa interpeduncularis [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Heterogeneous [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nephronophthisis [HPO term]
- Oculomotor apraxia [HPO term]
- Retinal degeneration [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened superior cerebellar peduncle [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 6 [MeSH concept]
- Joubert syndrome 6 [DO Concept]
- joubert syndrome 6 [MeSH Supplementary Concept]

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