JBTS16
MCID: JBR027
MIFTS: 22
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Joubert Syndrome 16 (JBTS16)
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 16:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Mental diseases Liver diseases |
OMIM
:
57
Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (608091) (summary by Lee et al., 2012).
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614465)
MalaCards based summary : Joubert Syndrome 16, is also known as jbts16. An important gene associated with Joubert Syndrome 16 is TMEM138 (Transmembrane Protein 138). Affiliated tissues include kidney, brain and liver, and related phenotypes are nephronophthisis and dandy-walker malformation Disease Ontology : 12 A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has material basis in homozygous mutation in the TMEM138 gene on chromosome 11q. UniProtKB/Swiss-Prot : 75 Joubert syndrome 16: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by 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 polydactyly. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614465Human phenotypes related to Joubert Syndrome 16:32 (show all 9)
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MalaCards organs/tissues related to Joubert Syndrome 16:41
Kidney,
Brain,
Liver,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 16:75
ClinVar genetic disease variations for Joubert Syndrome 16:6 (show all 17)
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Search
GEO
for disease gene expression data for Joubert Syndrome 16.
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