JBTS37
MCID: JBR049
MIFTS: 17
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Joubert Syndrome 37 (JBTS37)
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 37:
Name: Joubert Syndrome 37
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in utero variable features death in utero (in some patients) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases |
OMIM® :
57
Joubert syndrome-37 (JBTS37) is an autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Affected individuals have hypotonia, ataxia, and variably impaired intellectual development. Additional variable features, such as postaxial polydactyly, liver or kidney anomalies, retinal dystrophy, and coloboma, may also occur. In severe cases, affected fetuses with these malformations may be terminated (summary by Latour et al., 2020).
For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (619185) (Updated 05-Mar-2021)
MalaCards based summary : Joubert Syndrome 37, is also known as jbts37. An important gene associated with Joubert Syndrome 37 is TOGARAM1 (TOG Array Regulator Of Axonemal Microtubules 1). Affiliated tissues include cerebellum, eye and brain. |
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:619185 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Joubert Syndrome 37:40
Cerebellum,
Eye,
Brain,
Kidney
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Articles related to Joubert Syndrome 37:
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Search
GEO
for disease gene expression data for Joubert Syndrome 37.
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