JBTS4
MCID: JBR018
MIFTS: 51
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Joubert Syndrome 4 (JBTS4)
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 4:
Characteristics:Orphanet epidemiological data:58
joubert syndrome with renal defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
phenotypically mild form of joubert syndrome genetic heterogeneity (see jbts1 ) allelic disorder to juvenile nephronophthisis-1 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Joubert syndrome 4: 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. Joubert syndrome type 4 is a phenotypically mild form.
MalaCards based summary : Joubert Syndrome 4, also known as jbts4, is related to orofaciodigital syndrome v and orofaciodigital syndrome i, and has symptoms including ataxia An important gene associated with Joubert Syndrome 4 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, eye and brain, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A Joubert syndrome that has material basis in deletions of the NPHP1 gene on chromosome 2q13. |
Human phenotypes related to Joubert Syndrome 4:58 31 (show all 45)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:609583UMLS symptoms related to Joubert Syndrome 4:ataxia MGI Mouse Phenotypes related to Joubert Syndrome 4:45 (show all 12)
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Cochrane evidence based reviews: joubert syndrome 4 |
MalaCards organs/tissues related to Joubert Syndrome 4:40
Kidney,
Eye,
Brain,
Heart,
Hypothalamus,
Pituitary
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Articles related to Joubert Syndrome 4:(show all 18)
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ClinVar genetic disease variations for Joubert Syndrome 4:6 (show all 50)
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Search
GEO
for disease gene expression data for Joubert Syndrome 4.
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Pathways related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:
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Cellular components related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:(show all 18)
Biological processes related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:(show all 19)
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