JBTS7
MCID: JBR011
MIFTS: 46
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Joubert Syndrome 7 (JBTS7)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Joubert Syndrome 7:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype genetic heterogeneity renal phenotype worsens with age see also meckel syndrome type 5 , an allelic disorder with a more severe phenotype HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Nephrological diseases Eye diseases Respiratory diseases Liver diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Joubert syndrome 7: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by 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 (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
MalaCards based summary : Joubert Syndrome 7, also known as jbts7, is related to ciliopathy and cone-rod dystrophy 13, and has symptoms including ataxia An important gene associated with Joubert Syndrome 7 is RPGRIP1L (RPGRIP1 Like), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2. |
Human phenotypes related to Joubert Syndrome 7:31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611560UMLS symptoms related to Joubert Syndrome 7:ataxia MGI Mouse Phenotypes related to Joubert Syndrome 7:45 (show all 11)
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Cochrane evidence based reviews: joubert syndrome 7 |
MalaCards organs/tissues related to Joubert Syndrome 7:40
Eye,
Brain
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Articles related to Joubert Syndrome 7:
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ClinVar genetic disease variations for Joubert Syndrome 7:6 (show top 50) (show all 150)
UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 7:73
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Search
GEO
for disease gene expression data for Joubert Syndrome 7.
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Cellular components related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:(show all 16)
Biological processes related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Joubert Syndrome 7 according to GeneCards Suite gene sharing:
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