JBTS20
MCID: JBR022
MIFTS: 22
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Joubert Syndrome 20 (JBTS20)
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 20:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth two families of french-canadian origin have been reported (last curated december 2012) HPO:32
joubert syndrome 20:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Mental diseases Liver diseases |
UniProtKB/Swiss-Prot
:
75
Joubert syndrome 20: 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 20, is also known as jbts20. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Affiliated tissues include liver and eye, and related phenotypes are respiratory insufficiency and global developmental delay Disease Ontology : 12 A Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
Description from OMIM:
614970
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614970Human phenotypes related to Joubert Syndrome 20:32 (show all 12)
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MalaCards organs/tissues related to Joubert Syndrome 20:41
Liver,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 20:75
ClinVar genetic disease variations for Joubert Syndrome 20:6 (show all 43)
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Search
GEO
for disease gene expression data for Joubert Syndrome 20.
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