JBTS4
MCID: JBR018
MIFTS: 26
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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:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
phenotypically mild form of joubert syndrome genetic heterogeneity (see jbts1 ) allelic disorder to juvenile nephronophthisis-1 () HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Liver diseases Mental diseases |
UniProtKB/Swiss-Prot
:
74
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 joubert syndrome with renal anomalies, and has symptoms including ataxia An important gene associated with Joubert Syndrome 4 is NPHP1 (Nephrocystin 1). Affiliated tissues include kidney and eye, and related phenotypes are nystagmus and ataxia Disease Ontology : 12 A Joubert syndrome that has material basis in deletions of the NPHP1 gene on chromosome 2q13. |
Diseases in the Joubert Syndrome 1 family:Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Joubert Syndrome 4:32 (show all 13)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:609583UMLS symptoms related to Joubert Syndrome 4:ataxia |
Cochrane evidence based reviews: joubert syndrome 4 |
MalaCards organs/tissues related to Joubert Syndrome 4:41
Kidney,
Eye
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Articles related to Joubert Syndrome 4:
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ClinVar genetic disease variations for Joubert Syndrome 4:6
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Search
GEO
for disease gene expression data for Joubert Syndrome 4.
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