Joubert syndrome 10

Preferred Label : Joubert syndrome 10;

Symbol : JBTS10;

CISMeF acronym : JBTS10;

Type : Phenotype, molecular basis known;

Description : Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OFD1 protein gene (OFD1, 300170.0008);

Prefixed ID : #300804;

Details

Origin ID

300804;

UMLS CUI

C2749019;

Automatic exact mappings (from CISMeF team)
- OFD1 centriole and centriolar satellite protein [ORDO Gene]
- OFD1 centriole and centriolar satellite protein [HGNC gene]
- OFD1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Joubert syndrome 10 [DO Concept]
- joubert syndrome 10 [MeSH concept]
- joubert syndrome 10 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome 10 [DO Concept]
Genes related to phenotype
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
HPO term(s)
- Cerebellar vermis hypoplasia [HPO term]
- Deep philtrum [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cisterna magna [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hirsutism [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Molar tooth sign on MRI [HPO term]
- Postaxial polydactyly [HPO term]
- Recurrent infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Thick vermilion border [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Joubert syndrome [ORDO Disease]
- Orofaciodigital syndrome type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 10 [DO Concept]
- joubert syndrome 10 [MeSH Supplementary Concept]
- joubert syndrome 10 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients