JBTS18
MCID: JBR021
MIFTS: 23
|
Joubert Syndrome 18 (JBTS18)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
MalaCards integrated aliases for Joubert Syndrome 18:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype based on 2 siblings in 1 family (last curated september 2012) HPO:32
joubert syndrome 18:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Mental diseases Liver diseases |
UniProtKB/Swiss-Prot
:
75
Joubert syndrome 18: 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 and renal disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint laxity, horseshoe kidney, and ventricular septal defect.
MalaCards based summary : Joubert Syndrome 18, is also known as jbts18. An important gene associated with Joubert Syndrome 18 is TCTN3 (Tectonic Family Member 3). Affiliated tissues include kidney, eye and liver, and related phenotypes are abnormality of eye movement and intellectual disability Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the TCTN3 gene on chromosome 10q24.
Description from OMIM:
614815
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614815Human phenotypes related to Joubert Syndrome 18:32 (show all 10)
|
|
MalaCards organs/tissues related to Joubert Syndrome 18:41
Kidney,
Eye,
Liver
|
UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 18:75
ClinVar genetic disease variations for Joubert Syndrome 18:6 (show all 20)
|
Search
GEO
for disease gene expression data for Joubert Syndrome 18.
|
|
|