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

JBTS2 MCID: JBR004 MIFTS: 40	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

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Aliases & Classifications for Joubert Syndrome 2

MalaCards integrated aliases for Joubert Syndrome 2:

Name: Joubert Syndrome 2 ⁵⁷ ¹² ⁵³ ⁷⁴ ²⁹ ¹³ ⁶ ⁴⁴ ¹⁵ ⁷²

Cerebellooculorenal Syndrome 2 ⁵⁷ ¹² ⁵³ ⁷⁴

Jbts2 ⁵⁷ ¹² ⁵³ ⁷⁴

Cors2 ⁵⁷ ¹² ⁵³ ⁷⁴

Cerebellooculorenal Syndrome 2; Cors2 ⁵⁷

Cerebello-Oculo-Renal Syndrome 2 ⁷⁴

Joubert Syndrome, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity

HPO:

³²

joubert syndrome 2:
Inheritance autosomal recessive inheritance heterogeneous

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110988

OMIM ⁵⁷ 608091 PS213300

MeSH ⁴⁴ C536294 D002526 D005124 more

MedGen ⁴² C1842577

UMLS ⁷² 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)

MalaCards based summary : Joubert Syndrome 2, also known as cerebellooculorenal syndrome 2, is related to joubert syndrome 1 and joubert syndrome 16, 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 Organelle biogenesis and maintenance and Pathways in cancer. 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 : ⁷⁴ 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.

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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

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

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome 1	28.2	TMEM67 TMEM216 NPHP1 C1QTNF3 APPL1
2	joubert syndrome 16	11.3
3	meckel syndrome, type 2	10.2	TMEM67 TMEM216
4	joubert syndrome 6	10.2	TMEM67 NPHP1
5	nephronophthisis 19	10.2	TMEM67 NPHP1
6	joubert syndrome 3	10.1	NPHP1 APPL1
7	meckel syndrome, type 3	10.1	TMEM67 NPHP1
8	nephronophthisis 11	10.1	TMEM67 NPHP1
9	senior-loken syndrome 1	9.9	TMEM67 TMEM216 NPHP1
10	cogan syndrome	9.9	NPHP1 APPL1
11	meckel syndrome, type 1	9.9	TMEM67 TMEM216 NPHP1
12	meckel syndrome, type 6	9.9	TMEM67 NPHP1
13	cerebellar hypoplasia	9.9
14	ataxia and polyneuropathy, adult-onset	9.9
15	apraxia	9.9
16	pathologic nystagmus	9.9
17	joubert syndrome with oculorenal anomalies	9.9
18	hypotonia	9.9
19	oculomotor apraxia	9.9
20	nephronophthisis	9.8	TMEM67 TMEM216 NPHP1
21	cystic kidney disease	9.7	TMEM67 NPHP1

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

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Symptoms & Phenotypes for Joubert Syndrome 2

Human phenotypes related to Joubert Syndrome 2:

³² (show all 44)

#	Description	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	generalized hypotonia ³²	HP:0001290
18	abnormality of the foot ³²	HP:0001760
19	chorioretinal coloboma ³²	HP:0000567
20	microphthalmia ³²	HP:0000568
21	optic nerve coloboma ³²	HP:0000588
22	nephronophthisis ³²	HP:0000090
23	postaxial hand polydactyly ³²	HP:0001162
24	encephalocele ³²	HP:0002084
25	oculomotor apraxia ³²	HP:0000657
26	dysgenesis of the cerebellar vermis ³²	HP:0002195
27	renal cyst ³²	HP:0000107
28	retinal dystrophy ³²	HP:0000556
29	molar tooth sign on mri ³²	HP:0002419
30	episodic tachypnea ³²	HP:0002876
31	esotropia ³²	HP:0000565
32	central apnea ³²	HP:0002871
33	hypoplastic male external genitalia ³²	HP:0000050
34	abnormality of ocular smooth pursuit ³²	HP:0000617
35	impaired smooth pursuit ³²	HP:0007772
36	abnormal corpus callosum morphology ³²	HP:0001273
37	agenesis of cerebellar vermis ³²	HP:0002335
38	hypoplasia of the brainstem ³²	HP:0002365
39	elongated superior cerebellar peduncle ³²	HP:0011933
40	brainstem dysplasia ³²	HP:0002508
41	abnormal saccadic eye movements ³²	HP:0000570
42	neonatal breathing dysregulation ³²	HP:0002790
43	enlarged fossa interpeduncularis ³²	HP:0100951
44	thickened superior cerebellar peduncle ³²	HP:0002404

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

UMLS symptoms related to Joubert Syndrome 2:

ataxia

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Drugs & Therapeutics for Joubert Syndrome 2

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 2

Cochrane evidence based reviews: joubert syndrome 2

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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:

⁴¹

Brain, Eye

Sources

Publications for Joubert Syndrome 2

Articles related to Joubert Syndrome 2:

(show all 13)

#	Title	Authors	PMID	Year
1	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. ³⁸ ⁸ ⁷¹	Valente EM...Gleeson JG	20512146	2010
2	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. ³⁸ ⁸ ⁷¹	Edvardson S...Elpeleg O	20036350	2010
3	Distinguishing the four genetic causes of Jouberts syndrome-related disorders. ³⁸ ⁸	Valente EM...Gleeson JG	15786477	2005
4	Exome sequencing can improve diagnosis and alter patient management. ⁷¹	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁷¹	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁷¹	Dafinger C...Bolz HJ	21633164	2011
7	Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. ⁸	Keeler LC...Gleeson JG	12917796	2003
8	Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. ⁸	Valente EM...Dallapiccola B	12908130	2003
9	Joubert Syndrome ⁷¹	Parisi M...Glass I	20301500	2003
10	Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. ⁸	Satran D...Dobyns WB	10508989	1999
11	Clinical nosologic and genetic aspects of Joubert and related syndromes. ⁸	Chance PF...Dobyns WB	10511339	1999
12	"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. ⁸	Maria BL...Frerking B	9373798	1997
13	C2cd3 is required for cilia formation and Hedgehog signaling in mouse. ³⁸	Hoover AN...Liu A	19004860	2008

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Genes for Joubert Syndrome 2

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM216	Transmembrane Protein 216	Protein Coding	1356.07	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21448235 20036350 20301500 (more) 20512146
2	TMEM67	Transmembrane Protein 67	Protein Coding	16.21	DISEASES inferred ¹⁵
3	NPHP1	Nephrocystin 1	Protein Coding	15.61	DISEASES inferred ¹⁵
4	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	14.84	DISEASES inferred ¹⁵
5	GLI3	GLI Family Zinc Finger 3	Protein Coding	14.74	DISEASES inferred ¹⁵
6	C1QTNF3	C1q And TNF Related 3	Protein Coding	6.73	DISEASES inferred ¹⁵
7	TSPAN4	Tetraspanin 4	Protein Coding	6.06	DISEASES inferred ¹⁵
8	RHOA	Ras Homolog Family Member A	Protein Coding	4.03	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 2

ClinVar genetic disease variations for Joubert Syndrome 2:

⁶ (show all 26)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	TMEM216	NM_016499.5(TMEM216): c.35G> A (p.Arg12His)	single nucleotide variant	Pathogenic	rs201108965	11:61161437-61161437	11:61393965-61393965
2	TMEM216	NM_016499.5(TMEM216): c.70C> T (p.Arg24Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs11230683	11:61165269-61165269	11:61397797-61397797
3	TMEM216	NM_016499.5(TMEM216): c.215T> G (p.Leu72Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs755459875	11:61165414-61165414	11:61397942-61397942
4	TMEM216	NM_016499.5(TMEM216): c.35G> T (p.Arg12Leu)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201108965	11:61161437-61161437	11:61393965-61393965
5	TMEM216	NM_001173990.3(TMEM216): c.164_168del (p.Asn55fs)	deletion	Likely pathogenic	rs1554972556	11:61161379-61161384	11:61393911-61393915
6	TMEM216	NM_016499.5(TMEM216): c.33T> C (p.Ile11=)	single nucleotide variant	Likely pathogenic	rs541666319	11:61161435-61161435	11:61393963-61393963
7	TMEM216	NM_016499.5(TMEM216): c.-47-1G> A	single nucleotide variant	Likely pathogenic	rs1554972547	11:61161355-61161355	11:61393883-61393883
8	TMEM216	NM_016499.5(TMEM216): c.-162T> C	single nucleotide variant	Likely pathogenic	rs1057517498	11:61160139-61160139	11:61392667-61392667
9	TMEM216	NM_016499.5(TMEM216): c.-149-2A> G	single nucleotide variant	Likely pathogenic	rs1057517528	11:61160701-61160701	11:61393229-61393229
10	TMEM216	NM_016499.5(TMEM216): c.39del (p.Phe15fs)	deletion	Likely pathogenic	rs1057517512	11:61161441-61161441	11:61393969-61393969
11	TMEM216	NM_016499.5(TMEM216): c.45del (p.Phe15fs)	deletion	Likely pathogenic	rs767384710	11:61161447-61161447	11:61393975-61393975
12	TMEM216	NM_016499.5(TMEM216): c.45dup (p.Gly16fs)	duplication	Likely pathogenic	rs767384710	11:61161447-61161447	11:61393975-61393975
13	TMEM216	NM_016499.5(TMEM216): c.133_134insTA (p.Tyr45fs)	insertion	Likely pathogenic	rs1554972958	11:61165332-61165332	11:61397860-61397861
14	TMEM216	NM_016499.5(TMEM216): c.153C> A (p.Tyr51Ter)	single nucleotide variant	Likely pathogenic	rs147267631	11:61165352-61165352	11:61397880-61397880
15	TMEM216	NM_016499.5(TMEM216): c.34C> T (p.Arg12Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779526456	11:61161436-61161436	11:61393964-61393964
16	TMEM216	NM_016499.5(TMEM216): c.47-9dup	duplication	Uncertain significance	rs1554972934	11:61165236-61165236	11:61397765-61397765
17	TMEM216	NM_016499.5(TMEM216): c.249-1_250delinsAGTG	indel	Uncertain significance	rs1554973024	11:61165731-61165734	11:61398260-61398262
18	TMEM216	NM_016499.5(TMEM216): c.249-1delinsAA	indel	Uncertain significance	rs1554973021	11:61165731-61165732	11:61398260-61398260
19	TMEM216	NM_001173990.3(TMEM216): c.-9_11del (p.Met1fs)	deletion	Uncertain significance	rs1554972400	11:61160093-61160113	11:61392623-61392642
20	TMEM216	NM_001173990.3(TMEM216): c.2T> C (p.Met1Thr)	single nucleotide variant	Uncertain significance	rs1554972406	11:61160105-61160105	11:61392633-61392633
21	TMEM216	NM_001173990.3(TMEM216): c.2T> A (p.Met1Lys)	single nucleotide variant	Uncertain significance	rs1554972406	11:61160105-61160105	11:61392633-61392633
22	TMEM216	NM_001173990.3(TMEM216): c.1A> G (p.Met1Val)	single nucleotide variant	Uncertain significance	rs1287246452	11:61160104-61160104	11:61392632-61392632
23	TMEM216	NM_016499.5(TMEM216): c.249-1delinsAC	indel	Uncertain significance	rs1554973021	11:61165731-61165732	11:61398260-61398260
24	TMEM216	NM_016499.5(TMEM216): c.155dup (p.Leu53fs)	duplication	Uncertain significance	rs1554972964	11:61165353-61165353	11:61397882-61397882
25	TMEM216	NM_001173990.3(TMEM216): c.140T> C (p.Val47Ala)	single nucleotide variant	Uncertain significance	rs762918371	11:61161359-61161359	11:61393887-61393887
26	TMEM216	NM_001173990.2(TMEM216): c.34+18_34+21delTGTG	deletion	Likely benign	rs940443692	11:61160151-61160155	11:61392683-61392686

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

⁷⁴

#	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

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Expression for Joubert Syndrome 2

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

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Pathways for Joubert Syndrome 2

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

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.06	TMEM67 TMEM216 NPHP1
2	Pathways in cancer ³⁷	11.86	RHOA GLI3 APPL1
3	TGF-beta Signaling Pathways ⁶⁵	10.61	RHOA GLI3

Sources

GO Terms for Joubert Syndrome 2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.62	TMEM67 TMEM216 RHOA NPHP1
2	cell projection	GO:0042995	9.35	TMEM67 TMEM216 RHOA NPHP1 GLI3
3	ciliary transition zone	GO:0035869	9.26	TMEM67 TMEM216
4	MKS complex	GO:0036038	9.16	TMEM67 TMEM216
5	cilium	GO:0005929	8.92	TMEM67 TMEM216 NPHP1 GLI3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.43	TMEM67 TMEM216 NPHP1
2	negative regulation of neuron differentiation	GO:0045665	9.32	RHOA GLI3
3	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.16	RHOA GLI3
4	ciliary basal body-plasma membrane docking	GO:0097711	9.13	TMEM67 TMEM216 NPHP1
5	forebrain radial glial cell differentiation	GO:0021861	8.62	RHOA GLI3

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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

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:

Sources for Joubert Syndrome 2