JBTS32
MCID: JBR043
MIFTS: 46
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Joubert Syndrome 32 (JBTS32)
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 32:Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
four patients from 2 unrelated consanguineous families have been reported (last curated november 2017) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases |
UniProtKB/Swiss-Prot: 73 A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. MalaCards based summary: Joubert Syndrome 32, also known as jbts32, is related to 46,xy sex reversal 7 and primary ovarian insufficiency 6. An important gene associated with Joubert Syndrome 32 is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Signal Transduction. Affiliated tissues include liver, brain and cerebellum, and related phenotypes are nystagmus and polymicrogyria OMIM®: 57 JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (617757) (Updated 08-Dec-2022) Disease Ontology: 11 A Joubert syndrome that has material basis in homozygous mutation in the SUFU gene on chromosome 10q24. |
Human phenotypes related to Joubert Syndrome 32:30 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617757 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Joubert Syndrome 32:45 (show all 19)
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Organs/tissues related to Joubert Syndrome 32:
MalaCards :
Liver,
Brain,
Cerebellum
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Articles related to Joubert Syndrome 32:
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ClinVar genetic disease variations for Joubert Syndrome 32:5 (show all 15)
UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 32:73
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Search
GEO
for disease gene expression data for Joubert Syndrome 32.
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Pathways related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:(show all 27)
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Cellular components related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:
Biological processes related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:(show top 50) (show all 80)
Molecular functions related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:
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