Joubert syndrome 2

General Information (adopted from Orphanet):

Synonyms, Signs: CORS2
JBTS2
Cerebellooculorenal syndrome 2
Number of Symptoms 43
OrphanetNr:
OMIM Id: 608091
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23870701 [IBIS]
Age of onset: Antenatal, Neonatal
20036350 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with oculorenal defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Comment:

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein (PMID:20512146).

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 20036350 IBIS 240 / 7739
2
 (HPO:0000316) Hypertelorism 20512146 IBIS 644 / 7739
3
 (HPO:0000482) Microcornea 20512146 IBIS 102 / 7739
4
 (HPO:0000567) Chorioretinal coloboma 20512146 IBIS 26 / 7739
5
 (HPO:0000639) Nystagmus 20512146 IBIS 555 / 7739
6
 (HPO:0001583) Rotary nystagmus 20036350 IBIS 7 / 7739
7
 (HPO:0000657) Oculomotor apraxia 20512146 IBIS 54 / 7739
8
 (HPO:0000565) Esotropia 20036350 IBIS 58 / 7739
9
 (HPO:0001508) Failure to thrive 20036350 IBIS 454 / 7739
10
 (HPO:0001305) Dandy-Walker malformation 20512146 IBIS 79 / 7739
11
 (HPO:0100951) Enlarged fossa interpeduncularis 20036350 IBIS 4 / 7739
12
 (HPO:0001636) Tetralogy of Fallot 20512146 IBIS 104 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 20036350 IBIS 482 / 7739
14
 (HPO:0001319) Neonatal hypotonia 20036350 IBIS 101 / 7739
15
 (HPO:0001263) Global developmental delay 20036350 IBIS 853 / 7739
16
 (HPO:0100543) Cognitive impairment 20036350 IBIS 230 / 7739
17
 (HPO:0001511) Intrauterine growth retardation 20512146 IBIS 358 / 7739
18
 (HPO:0006487) Bowing of the long bones 20512146 IBIS 95 / 7739
19
 (HPO:0001162) Postaxial hand polydactyly 20036350 IBIS 119 / 7739
20
 (HPO:0001830) Postaxial foot polydactyly 20036350 IBIS 37 / 7739
21
 (HPO:0010442) Polydactyly 20512146 IBIS 69 / 7739
22
 (HPO:0000268) Dolichocephaly 20036350 IBIS 144 / 7739
23
 (HPO:0011330) Metopic synostosis 20036350 IBIS 3 / 7739
24
 (HPO:0002084) Encephalocele 20512146 IBIS 70 / 7739
25
 (HPO:0002007) Frontal bossing 20036350 IBIS 366 / 7739
26
 (HPO:0000256) Macrocephaly 20036350 IBIS 298 / 7739
27
 (HPO:0001408) Bile duct proliferation 20512146 IBIS 22 / 7739
28
 (HPO:0002910) Elevated hepatic transaminases 20512146 IBIS 158 / 7739
29
 (HPO:0000054) Micropenis 20512146 IBIS 257 / 7739
30
 (HPO:0000190) Abnormality of oral frenula 20512146 IBIS 3 / 7739
31
 (HPO:0000175) Cleft palate 20512146 IBIS 349 / 7739
32
 (HPO:0100648) Neoplasm of the tongue 20512146 IBIS 2 / 7739
33
 (HPO:0005565) Reduced renal corticomedullary differentiation 20512146 IBIS 5 / 7739
34
 (HPO:0000090) Nephronophthisis 20512146 IBIS 42 / 7739
35
 (HPO:0000107) Renal cyst 20512146 IBIS 126 / 7739
36
 (HPO:0000083) Renal insufficiency 20036350 IBIS 232 / 7739
37
 (HPO:0012385) Camptodactyly 20512146 IBIS 113 / 7739
38
 (HPO:0002335) Agenesis of cerebellar vermis 20036350 IBIS 25 / 7739
39
 (HPO:0001320) Cerebellar vermis hypoplasia 20036350 IBIS 57 / 7739
40
 (HPO:0011933) Elongated superior cerebellar peduncle 20036350 IBIS 6 / 7739
41
 (HPO:0000238) Hydrocephalus 20036350 IBIS 278 / 7739
42
 (HPO:0002419) Molar tooth sign on MRI 20512146; 20036350 IBIS 27 / 7739
43
 (HPO:0002126) Polymicrogyria 20512146 IBIS 64 / 7739

Associated genes:

TMEM216;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex ...
Clinical Description OMIM The phenotypic presentation of CORSs is highly heterogeneous. Neurologic features can include ataxia, hypotonia, psychomotor developmental delay, oculomotor disorders (such as oculomotor apraxia and nystagmus), and changes in the respiratory rhythm that appear mainly in the neonatal period. ...
Molecular genetics OMIM In 13 affected members of 8 Ashkenazi Jewish families with Joubert syndrome-2, Edvardson et al. (2010) identified a homozygous mutation in the TMEM216 gene (R73L; 613277.0001). The carrier rate in this ethnic group was determined to be 1 ...