JBTS36
MCID: JBR048
MIFTS: 22
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Joubert Syndrome 36 (JBTS36)
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 36:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
six patients from 4 unrelated consanguineous middle eastern families have been reported (last curated january, 2020) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Joubert syndrome 36: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS36 inheritance is autosomal recessive.
MalaCards based summary : Joubert Syndrome 36, is also known as jbts36. An important gene associated with Joubert Syndrome 36 is FAM149B1 (Family With Sequence Similarity 149 Member B1). Affiliated tissues include brain and liver, and related phenotypes are intellectual disability and global developmental delay OMIM : 56 Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; 277170) (summary by Shaheen et al., 2019). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (618763) |
Human phenotypes related to Joubert Syndrome 36:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618763 |
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MalaCards organs/tissues related to Joubert Syndrome 36:40
Brain,
Liver
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Articles related to Joubert Syndrome 36:
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ClinVar genetic disease variations for Joubert Syndrome 36:6
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Search
GEO
for disease gene expression data for Joubert Syndrome 36.
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