MCID: JBR004
MIFTS: 27

Joubert Syndrome 2

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 57 12 53 75 29 13 6 73
Cerebellooculorenal Syndrome 2 57 12 53 75
Jbts2 57 12 53 75
Cors2 57 12 53 75
Cerebellooculorenal Syndrome 2; Cors2 57
Cerebello-Oculo-Renal Syndrome 2 75
Joubert Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity


HPO:

32
joubert syndrome 2:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 2

OMIM : 57 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 brainstem malformation consists of 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 (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999). (608091)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to joubert syndrome 16 and joubert syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216). Affiliated tissues include brain and eye, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.

UniProtKB/Swiss-Prot : 75 Joubert syndrome 2: 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.

Related Diseases for Joubert Syndrome 2

Symptoms & Phenotypes for Joubert Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
hydrocephalus
ataxia
encephalocele
hypoplasia of the brainstem
hypotonia
more
Head And Neck Nose:
depressed nasal bridge

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

Head And Neck Eyes:
hypertelorism
nystagmus
visual impairment
chorioretinal coloboma
microphthalmia
more
Head And Neck Face:
frontal bossing

Growth Other:
failure to thrive

Genitourinary Kidneys:
nephronophthisis
renal cysts
impaired renal function (variable)

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic genitalia

Skeletal Feet:
polydactyly, postaxial


Clinical features from OMIM:

608091

Human phenotypes related to Joubert Syndrome 2:

32 (show all 44)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 hydrocephalus 32 HP:0000238
7 nystagmus 32 HP:0000639
8 intellectual disability 32 HP:0001249
9 ataxia 32 HP:0001251
10 muscular hypotonia 32 HP:0001252
11 failure to thrive 32 HP:0001508
12 global developmental delay 32 HP:0001263
13 depressed nasal bridge 32 HP:0005280
14 visual impairment 32 HP:0000505
15 abnormal renal physiology 32 HP:0012211
16 dolichocephaly 32 HP:0000268
17 abnormality of the foot 32 HP:0001760
18 chorioretinal coloboma 32 HP:0000567
19 microphthalmia 32 HP:0000568
20 optic nerve coloboma 32 HP:0000588
21 nephronophthisis 32 HP:0000090
22 postaxial hand polydactyly 32 HP:0001162
23 encephalocele 32 HP:0002084
24 oculomotor apraxia 32 HP:0000657
25 dysgenesis of the cerebellar vermis 32 HP:0002195
26 renal cyst 32 HP:0000107
27 retinal dystrophy 32 HP:0000556
28 molar tooth sign on mri 32 HP:0002419
29 generalized hypotonia 32 HP:0001290
30 esotropia 32 HP:0000565
31 central apnea 32 HP:0002871
32 episodic tachypnea 32 HP:0002876
33 abnormality of saccadic eye movements 32 HP:0000570
34 abnormality of ocular smooth pursuit 32 HP:0000617
35 impaired smooth pursuit 32 HP:0007772
36 abnormality of the corpus callosum 32 HP:0001273
37 agenesis of cerebellar vermis 32 HP:0002335
38 elongated superior cerebellar peduncle 32 HP:0011933
39 brainstem dysplasia 32 HP:0002508
40 hypoplasia of the brainstem 32 HP:0002365
41 hypoplastic male external genitalia 32 HP:0000050
42 neonatal breathing dysregulation 32 HP:0002790
43 enlarged fossa interpeduncularis 32 HP:0100951
44 thickened superior cerebellar peduncle 32 HP:0002404

UMLS symptoms related to Joubert Syndrome 2:


ataxia

Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

# Genetic test Affiliating Genes
1 Joubert Syndrome 2 29 TMEM216

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

41
Brain, Eye

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

# Title Authors Year
1
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ( 20036350 )
2010

Variations for Joubert Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 TMEM216 p.Arg73Leu VAR_063388 rs201108965
2 TMEM216 p.Arg73Cys VAR_064028 rs779526456
3 TMEM216 p.Arg73His VAR_064029 rs201108965
4 TMEM216 p.Leu89Phe VAR_068170 rs780098806

ClinVar genetic disease variations for Joubert Syndrome 2:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
2 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh38 Chromosome 11, 61393965: 61393965
3 TMEM216 NM_001173990.2(TMEM216): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
4 TMEM216 NM_001173990.2(TMEM216): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs201108965 GRCh38 Chromosome 11, 61393965: 61393965
5 TMEM216 NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs11230683 GRCh37 Chromosome 11, 61165269: 61165269
6 TMEM216 NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs11230683 GRCh38 Chromosome 11, 61397797: 61397797
7 TMEM216 NM_001173990.2(TMEM216): c.216T> C (p.Ile72=) single nucleotide variant Likely pathogenic rs541666319 GRCh38 Chromosome 11, 61393963: 61393963
8 TMEM216 NM_001173990.2(TMEM216): c.216T> C (p.Ile72=) single nucleotide variant Likely pathogenic rs541666319 GRCh37 Chromosome 11, 61161435: 61161435
9 TMEM216 NM_001173990.2(TMEM216): c.217C> T (p.Arg73Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779526456 GRCh38 Chromosome 11, 61393964: 61393964
10 TMEM216 NM_001173990.2(TMEM216): c.217C> T (p.Arg73Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779526456 GRCh37 Chromosome 11, 61161436: 61161436
11 TMEM216 NM_001173990.2(TMEM216): c.398T> G (p.Leu133Ter) single nucleotide variant Pathogenic/Likely pathogenic rs755459875 GRCh38 Chromosome 11, 61397942: 61397942
12 TMEM216 NM_001173990.2(TMEM216): c.398T> G (p.Leu133Ter) single nucleotide variant Pathogenic/Likely pathogenic rs755459875 GRCh37 Chromosome 11, 61165414: 61165414
13 TMEM216 NM_001173990.2(TMEM216): c.34+2T> C single nucleotide variant Likely pathogenic rs1057517498 GRCh37 Chromosome 11, 61160139: 61160139
14 TMEM216 NM_001173990.2(TMEM216): c.34+2T> C single nucleotide variant Likely pathogenic rs1057517498 GRCh38 Chromosome 11, 61392667: 61392667
15 TMEM216 NM_001173990.2(TMEM216): c.35-2A> G single nucleotide variant Likely pathogenic rs1057517528 GRCh38 Chromosome 11, 61393229: 61393229
16 TMEM216 NM_001173990.2(TMEM216): c.35-2A> G single nucleotide variant Likely pathogenic rs1057517528 GRCh37 Chromosome 11, 61160701: 61160701
17 TMEM216 NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs) deletion Likely pathogenic rs1057517512 GRCh37 Chromosome 11, 61161441: 61161441
18 TMEM216 NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs) deletion Likely pathogenic rs1057517512 GRCh38 Chromosome 11, 61393969: 61393969
19 TMEM216 NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs) deletion Likely pathogenic rs1057517516 GRCh37 Chromosome 11, 61161447: 61161447
20 TMEM216 NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs) deletion Likely pathogenic rs1057517516 GRCh38 Chromosome 11, 61393975: 61393975
21 TMEM216 NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs) duplication Likely pathogenic rs1057517475 GRCh38 Chromosome 11, 61393975: 61393975
22 TMEM216 NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs) duplication Likely pathogenic rs1057517475 GRCh37 Chromosome 11, 61161447: 61161447

Expression for Joubert Syndrome 2

Search GEO for disease gene expression data for Joubert Syndrome 2.

Pathways for Joubert Syndrome 2

GO Terms for Joubert Syndrome 2

Sources for Joubert Syndrome 2

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74 UMLS via Orphanet
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