Joubert syndrome 16

Preferred Label : Joubert syndrome 16;

Symbol : JBTS16;

CISMeF acronym : JBTS16;

Type : Phenotype, molecular basis known;

Description : Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (608091) (summary by Lee et al., 2012). 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 138 gene (TMEM138, 614459.0001);

Prefixed ID : #614465;

Details

Origin ID

614465;

UMLS CUI

C3280906;

Automatic exact mappings (from CISMeF team)
- TMEM138 wt Allele [NCIt concept]
- transmembrane protein 138 [ORDO Gene]
- transmembrane protein 138 [HGNC gene]
Currated CISMeF NLP mapping
- Joubert syndrome 16 [DO Concept]
DO Cross reference
- Joubert syndrome 16 [DO Concept]
Genes related to phenotype
- Transmembrane protein 138 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coloboma [HPO term]
- Dandy-Walker malformation [HPO term]
- Encephalocele [HPO term]
- Hypertelorism [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nephronophthisis [HPO term]
- Oculomotor apraxia [HPO term]
- Polydactyly [HPO term]
- Renal cyst [HPO term]
- Retinal dystrophy [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 16 [DO Concept]

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