Joubert Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS2 MCID: JBR004 MIFTS: 48	Joubert Syndrome 2 (JBTS2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 ⁵⁷ ¹² ²⁰ ⁷³ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷¹

Cerebellooculorenal Syndrome 2 ⁵⁷ ¹² ²⁰ ⁷³

Jbts2 ⁵⁷ ¹² ²⁰ ⁷³

Cors2 ⁵⁷ ¹² ²⁰ ⁷³

Cerebellooculorenal Syndrome 2; Cors2 ⁵⁷

Cerebello-Oculo-Renal Syndrome 2 ⁷³

Joubert Syndrome, Type 2 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity

HPO:

³¹

joubert syndrome 2:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110988

OMIM® ⁵⁷ 608091

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ C536294 D002526 D005124 more

MedGen ⁴¹ C1842577

UMLS ⁷¹ C1842577

Sources

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) (Updated 05-Mar-2021)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to oculomotor apraxia and pathologic nystagmus, and has symptoms including ataxia An important gene associated with Joubert Syndrome 2 is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and intellectual disability

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 : ⁷³ 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.

Sources

Related Diseases for Joubert Syndrome 2

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35	Joubert Syndrome 36
Joubert Syndrome 37

Diseases related to Joubert Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)

#	Related Disease	Score	Top Affiliating Genes
1	oculomotor apraxia	30.1	NPHP1 AHI1
2	pathologic nystagmus	29.7	TMEM67 MKS1 CEP290
3	arima syndrome	29.6	TMEM216 TMEM138 CEP290 CC2D2A
4	apraxia	29.5	TMEM67 NPHP1 CEP290 CC2D2A AHI1
5	joubert syndrome 1	26.3	TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
6	joubert syndrome 16	11.0
7	retinal aplasia	10.2	NPHP1 CEP290
8	joubert syndrome 15	10.1	RPGRIP1L NPHP1 CC2D2A
9	nephronophthisis 18	10.0	NPHP1 C2CD3
10	leber congenital amaurosis 6	10.0	MKS1 CEP290
11	alstrom syndrome	10.0	RPGRIP1L CEP290
12	nephronophthisis 15	10.0	NPHP1 C2CD3
13	bardet-biedl syndrome 13	10.0	MKS1 CEP290
14	enophthalmos	10.0	CEP290 AHI1
15	bardet-biedl syndrome 16	10.0	MKS1 CEP290
16	meningocele	10.0	TMEM67 C2CD3
17	acrocallosal syndrome	10.0	TMEM216 RPGRIP1L NPHP1 AHI1
18	bardet-biedl syndrome 8	10.0	MKS1 CEP290
19	orofaciodigital syndrome i	9.9	OFD1 CEP290
20	ataxia and polyneuropathy, adult-onset	9.9
21	hypotonia	9.9
22	juvenile nephronophthisis	9.9	TMEM67 NPHP1 CEP290
23	congenital hepatic fibrosis	9.9	TMEM67 RPGRIP1L CC2D2A AHI1
24	oligohydramnios	9.9	TMEM67 MKS1 CC2D2A
25	bardet-biedl syndrome 11	9.9	RPGRIP1L MKS1 CEP290
26	nephronophthisis 16	9.9	TMEM67 RPGRIP1L NPHP1 CEP290
27	bardet-biedl syndrome 6	9.9	RPGRIP1L MKS1 CEP290
28	simpson-golabi-behmel syndrome, type 2	9.9	OFD1 CEP290
29	polycystic kidney disease 2 with or without polycystic liver disease	9.9	TMEM67 MKS1 ARL13B
30	joubert syndrome 14	9.8	TMEM216 RPGRIP1L NPHP1 B9D2
31	orofaciodigital syndrome v	9.8	OFD1 C2CD3
32	retinal degeneration	9.8	TMEM67 RPGRIP1L NPHP1 CEP290
33	bardet-biedl syndrome 3	9.8	MKS1 CEP290
34	kidney disease	9.8	TMEM67 NPHP1 CEP290 CC2D2A AHI1
35	renal-hepatic-pancreatic dysplasia	9.8	OFD1 NPHP1 CEP290
36	nephronophthisis 19	9.8	TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
37	retinitis pigmentosa 2	9.7	CEP290 ARL13B
38	cogan syndrome	9.7	RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
39	meckel syndrome, type 7	9.7	TMEM216 MKS1 CC2D2A B9D2
40	joubert syndrome 24	9.7	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
41	bardet-biedl syndrome 1	9.7	TMEM67 TMEM216 NPHP1 MKS1 CEP290
42	johanson-blizzard syndrome	9.7	TMEM216 TMEM138 RPGRIP1L CEP290 CC2D2A
43	orofaciodigital syndrome iv	9.6	TMEM216 OFD1 C2CD3
44	nephronophthisis 11	9.6	TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
45	nephronophthisis 12	9.6	TMEM138 RPGRIP1L NPHP1 CEP290 B9D2
46	short-rib thoracic dysplasia 6 with or without polydactyly	9.5	TMEM67 TMEM216 OFD1 C2CD3
47	encephalocele	9.5	TMEM67 MKS1 CEP290 CC2D2A B9D2
48	bardet-biedl syndrome 14	9.4	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
49	nephronophthisis 14	9.4	TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
50	nephronophthisis 1	9.4	RPGRIP1L NPHP1 MKS1 CC2D2A B9D2 AHI1

Graphical network of the top 20 diseases related to Joubert Syndrome 2:

Sources

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

³¹ (show all 44)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Head:
macrocephaly
dolichocephaly

Head And Neck Face:
frontal bossing

Neurologic Central Nervous System:
ataxia
hydrocephalus
encephalocele
hypoplasia of the brainstem
hypotonia
more

Head And Neck Ears:
low-set ears

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

Abdomen Gastrointestinal:
poor feeding in infancy
swallowing and chewing difficulties

Skeletal Hands:
polydactyly, postaxial

Growth Other:
failure to thrive

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

Head And Neck Nose:
depressed nasal bridge

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 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 2:

ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 2:

⁴⁶ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.25	AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
2	cardiovascular system	MP:0005385	10.18	B9D2 C2CD3 CC2D2A CEP290 MKS1 OFD1
3	growth/size/body region	MP:0005378	10.17	AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
4	mortality/aging	MP:0010768	10.07	AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
5	embryo	MP:0005380	10.06	ARL13B B9D2 C2CD3 CC2D2A MKS1 OFD1
6	nervous system	MP:0003631	10.06	AHI1 ARL13B B9D2 C2CD3 CC2D2A CEP290
7	craniofacial	MP:0005382	10.04	B9D2 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
8	renal/urinary system	MP:0005367	9.96	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1
9	digestive/alimentary	MP:0005381	9.95	B9D2 CC2D2A MKS1 OFD1 RPGRIP1L TMEM67
10	limbs/digits/tail	MP:0005371	9.95	B9D2 C2CD3 CC2D2A MKS1 OFD1 RPGRIP1L
11	respiratory system	MP:0005388	9.7	ARL13B B9D2 CC2D2A CEP290 MKS1 OFD1
12	skeleton	MP:0005390	9.5	B9D2 CEP290 MKS1 OFD1 RPGRIP1L TMEM138
13	vision/eye	MP:0005391	9.28	AHI1 ARL13B B9D2 CC2D2A CEP290 MKS1

Sources

Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

Sources

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 2 ²⁹	TMEM216

Sources

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

⁴⁰

Eye, Brain

Sources

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

#	Title	Authors	PMID	Year
1	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. ⁵⁷ ⁶ ⁶¹	Valente EM...Gleeson JG	20512146	2010
2	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ⁶¹ ⁵⁷ ⁶	Edvardson S...Elpeleg O	20036350	2010
3	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. ⁶¹ ⁵⁷	Valente EM...Gleeson JG	15786477	2005
4	Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. ⁵⁷	Keeler LC...Gleeson JG	12917796	2003
5	Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. ⁵⁷	Valente EM...Dallapiccola B	12908130	2003
6	Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. ⁵⁷	Satran D...Dobyns WB	10508989	1999
7	Clinical nosologic and genetic aspects of Joubert and related syndromes. ⁵⁷	Chance PF...Dobyns WB	10511339	1999
8	"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. ⁵⁷	Maria BL...Frerking B	9373798	1997
9	C2cd3 is required for cilia formation and Hedgehog signaling in mouse. ⁶¹	Hoover AN...Liu A	19004860	2008

Sources

Genes for Joubert Syndrome 2

Genes related to Joubert Syndrome 2 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMEM216	Transmembrane Protein 216	Protein Coding	1371.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20512146
2	NPHP1	Nephrocystin 1	Protein Coding	7.49	DISEASES inferred ¹⁵
3	AHI1	Abelson Helper Integration Site 1	Protein Coding	7.44	DISEASES inferred ¹⁵
4	TMEM67	Transmembrane Protein 67	Protein Coding	7.39	DISEASES inferred ¹⁵
5	RPGRIP1L	RPGRIP1 Like	Protein Coding	7.38	DISEASES inferred ¹⁵
6	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	7.37	DISEASES inferred ¹⁵
7	CEP290	Centrosomal Protein 290	Protein Coding	7.34	DISEASES inferred ¹⁵
8	TMEM138	Transmembrane Protein 138	Protein Coding	7.06	DISEASES inferred ¹⁵
9	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.9	DISEASES inferred ¹⁵
10	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	6.59	DISEASES inferred ¹⁵
11	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	6.55	DISEASES inferred ¹⁵
12	OFD1	OFD1 Centriole And Centriolar Satellite Protein	Protein Coding	6.38	DISEASES inferred ¹⁵
13	B9D2	B9 Domain Containing 2	Protein Coding	6.13	DISEASES inferred ¹⁵

Sources

Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

⁶ (show top 50) (show all 76)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TMEM216	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	SNV	Pathogenic	198	rs201108965	11:61161437-61161437	11:61393965-61393965
2	TMEM216	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	SNV	Pathogenic	197	rs201108965	11:61161437-61161437	11:61393965-61393965
3	TMEM216	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	SNV	Pathogenic	217705	rs779526456	11:61161436-61161436	11:61393964-61393964
4	TMEM216	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	SNV	Pathogenic	56384	rs11230683	11:61165269-61165269	11:61397797-61397797
5	TMEM216	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	SNV	Pathogenic	217704	rs755459875	11:61165414-61165414	11:61397942-61397942
6	TMEM216	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	SNV	Pathogenic/Likely pathogenic	56384	rs11230683	11:61165269-61165269	11:61397797-61397797
7	TMEM216	NM_001173990.3(TMEM216):c.35-2A>G	SNV	Likely pathogenic	371778	rs1057517528	11:61160701-61160701	11:61393229-61393229
8	TMEM216	NM_001173990.3(TMEM216):c.34+2T>C	SNV	Likely pathogenic	371740	rs1057517498	11:61160139-61160139	11:61392667-61392667
9	TMEM216	NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	Deletion	Likely pathogenic	371759	rs1057517512	11:61161441-61161441	11:61393969-61393969
10	TMEM216	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	SNV	Likely pathogenic	554706	rs147267631	11:61165352-61165352	11:61397880-61397880
11	TMEM216	NM_001173990.3(TMEM216):c.137-1G>A	SNV	Likely pathogenic	558218	rs1554972547	11:61161355-61161355	11:61393883-61393883
12	TMEM216	NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	Insertion	Likely pathogenic	558417	rs1554972958	11:61165332-61165333	11:61397860-61397861
13	TMEM216	NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	Duplication	Likely pathogenic	371710	rs767384710	11:61161441-61161442	11:61393969-61393970
14	TMEM216	NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	Deletion	Likely pathogenic	371763	rs767384710	11:61161442-61161442	11:61393970-61393970
15	TMEM216	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	SNV	Likely pathogenic	217706	rs541666319	11:61161435-61161435	11:61393963-61393963
16	TMEM216	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	SNV	Likely pathogenic	197	rs201108965	11:61161437-61161437	11:61393965-61393965
17	TMEM216	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	Deletion	Likely pathogenic	551831	rs1554972556	11:61161380-61161384	11:61393908-61393912
18	TMEM216	NM_001173990.3(TMEM216):c.432-10delinsAC	Indel	Uncertain significance	552510	rs1554973021	11:61165732-61165732	11:61398260-61398260
19	TMEM216	NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	Duplication	Uncertain significance	553034	rs1554972964	11:61165353-61165354	11:61397881-61397882
20	TMEM216	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	SNV	Uncertain significance	598600	rs769285695	11:61160725-61160725	11:61393253-61393253
21	TMEM216	NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)	SNV	Uncertain significance	700949	rs900061092	11:61160791-61160791	11:61393319-61393319
22	TMEM216	NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)	SNV	Uncertain significance	498870	rs900061092	11:61160791-61160791	11:61393319-61393319
23	TMEM216	NM_001173990.3(TMEM216):c.229+10G>A	SNV	Uncertain significance	704104	rs1590642512	11:61161458-61161458	11:61393986-61393986
24	TMEM216	NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)	SNV	Uncertain significance	701104	rs528921796	11:61165340-61165340	11:61397868-61397868
25	TMEM216	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	SNV	Uncertain significance	289981	rs762918371	11:61161359-61161359	11:61393887-61393887
26	TMEM216	NM_001173990.3(TMEM216):c.*190A>G	SNV	Uncertain significance	877370		11:61165938-61165938	11:61398466-61398466
27	TMEM216	NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	SNV	Uncertain significance	305078	rs201614099	11:61165305-61165305	11:61397833-61397833
28	TMEM216	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	SNV	Uncertain significance	289981	rs762918371	11:61161359-61161359	11:61393887-61393887
29	TMEM216	NM_001173990.3(TMEM216):c.-24C>T	SNV	Uncertain significance	305076	rs59493015	11:61160080-61160080	11:61392608-61392608
30	TMEM216	NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)	SNV	Uncertain significance	991119		11:61165352-61165352	11:61397880-61397880
31	TMEM216	NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)	SNV	Uncertain significance	305080	rs200289511	11:61165374-61165374	11:61397902-61397902
32	TMEM216	NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)	SNV	Uncertain significance	305081	rs749351351	11:61165436-61165436	11:61397964-61397964
33	TMEM216	NM_001173990.3(TMEM216):c.137-7T>C	SNV	Uncertain significance	991118		11:61161349-61161349	11:61393877-61393877
34	TMEM216	NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)	SNV	Uncertain significance	597583	rs568253718	11:61160781-61160781	11:61393309-61393309
35	TMEM216	NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)	SNV	Uncertain significance	991117		11:61160129-61160129	11:61392657-61392657
36	TMEM216	NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)	SNV	Uncertain significance	851043		11:61165270-61165270	11:61397798-61397798
37	TMEM216	NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)	SNV	Uncertain significance	855127		11:61160114-61160114	11:61392642-61392642
38	TMEM216	NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)	SNV	Uncertain significance	452672	rs1554972409	11:61160110-61160110	11:61392638-61392638
39	TMEM216	NM_001173990.3(TMEM216):c.230-9dup	Duplication	Uncertain significance	557532	rs1554972934	11:61165236-61165237	11:61397764-61397765
40	TMEM216	NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG	Indel	Uncertain significance	558461	rs1554973024	11:61165732-61165734	11:61398260-61398262
41	TMEM216	NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	SNV	Uncertain significance	556222	rs1554972406	11:61160105-61160105	11:61392633-61392633
42	TMEM216	NM_001173990.3(TMEM216):c.432-10delinsAA	Indel	Uncertain significance	557306	rs1554973021	11:61165732-61165732	11:61398260-61398260
43	TMEM216	NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	Deletion	Uncertain significance	557444	rs1554972400	11:61160094-61160113	11:61392622-61392641
44	TMEM216	NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)	SNV	Uncertain significance	557516	rs1554972406	11:61160105-61160105	11:61392633-61392633
45	TMEM216	NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	SNV	Uncertain significance	557517	rs1287246452	11:61160104-61160104	11:61392632-61392632
46	TMEM216	NC_000011.10:g.61392347A>G	SNV	Uncertain significance	878303		11:61159819-61159819	11:61392347-61392347
47	TMEM216	NM_001173991.2(TMEM216):c.-264C>T	SNV	Uncertain significance	878304		11:61159840-61159840	11:61392368-61392368
48	TMEM216	NM_001173990.3(TMEM216):c.*377T>C	SNV	Uncertain significance	878392		11:61166125-61166125	11:61398653-61398653
49	TMEM216	NM_001173990.3(TMEM216):c.*393C>T	SNV	Uncertain significance	878393		11:61166141-61166141	11:61398669-61398669
50	TMEM216	NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)	SNV	Uncertain significance	878935		11:61165398-61165398	11:61397926-61397926

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

⁷³

#	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

Sources

Expression for Joubert Syndrome 2

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

Sources

Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.68	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.13	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1

Sources

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.25	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2	cytosol	GO:0005829	10.18	TMEM216 RPGRIP1L OFD1 NPHP1 MKS1 CEP290
3	cytoskeleton	GO:0005856	10.11	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
4	centrosome	GO:0005813	10.01	TMEM67 RPGRIP1L OFD1 MKS1 CEP290 C2CD3
5	ciliary basal body	GO:0036064	9.87	RPGRIP1L OFD1 MKS1 CEP290 C2CD3 B9D2
6	microtubule organizing center	GO:0005815	9.83	RPGRIP1L OFD1 MKS1 CEP290
7	centriole	GO:0005814	9.83	OFD1 MKS1 CEP290 C2CD3 AHI1
8	MKS complex	GO:0036038	9.8	TMEM67 TMEM216 MKS1 CEP290 CC2D2A B9D2
9	cilium	GO:0005929	9.73	TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1
10	cell-cell junction	GO:0005911	9.72	RPGRIP1L NPHP1 AHI1
11	motile cilium	GO:0031514	9.71	OFD1 NPHP1 ARL13B
12	ciliary transition zone	GO:0035869	9.7	TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
13	centriolar satellite	GO:0034451	9.67	OFD1 CEP290 C2CD3
14	photoreceptor connecting cilium	GO:0032391	9.63	RPGRIP1L NPHP1 CEP290
15	non-motile cilium	GO:0097730	9.56	ARL13B AHI1
16	cell projection	GO:0042995	9.44	TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 NPHP1

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body-plasma membrane docking	GO:0097711	9.9	TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
2	non-motile cilium assembly	GO:1905515	9.73	TMEM216 RPGRIP1L MKS1 CC2D2A C2CD3 ARL13B
3	cell projection organization	GO:0030030	9.7	TMEM67 TMEM216 TMEM138 OFD1 NPHP1 MKS1
4	determination of left/right symmetry	GO:0007368	9.62	RPGRIP1L MKS1 CC2D2A ARL13B
5	heart looping	GO:0001947	9.58	C2CD3 ARL13B AHI1
6	regulation of smoothened signaling pathway	GO:0008589	9.54	RPGRIP1L MKS1 C2CD3
7	motile cilium assembly	GO:0044458	9.52	MKS1 CC2D2A
8	hindbrain development	GO:0030902	9.51	CEP290 AHI1
9	head development	GO:0060322	9.49	RPGRIP1L MKS1
10	embryonic brain development	GO:1990403	9.48	MKS1 CC2D2A
11	left/right axis specification	GO:0070986	9.46	ARL13B AHI1
12	neural tube patterning	GO:0021532	9.43	RPGRIP1L ARL13B
13	cilium assembly	GO:0060271	9.4	TMEM67 TMEM216 TMEM138 RPGRIP1L OFD1 MKS1

Molecular functions related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	gamma-tubulin binding	GO:0043015	8.62	OFD1 B9D2

Sources

Sources for Joubert Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Joubert Syndrome 2 (JBTS2)

Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 2

Related Diseases for Joubert Syndrome 2

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 2:

Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Joubert Syndrome 2:

MGI Mouse Phenotypes related to Joubert Syndrome 2:

Drugs & Therapeutics for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

Genetic Tests for Joubert Syndrome 2

Genetic tests related to Joubert Syndrome 2:

Anatomical Context for Joubert Syndrome 2

MalaCards organs/tissues related to Joubert Syndrome 2:

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

Genes for Joubert Syndrome 2

Genes related to Joubert Syndrome 2 (1 elite genes):

Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

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

Expression for Joubert Syndrome 2

Pathways for Joubert Syndrome 2

Pathways related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 2

Cellular components related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Molecular functions related to Joubert Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 2