Joubert Syndrome 24 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JBTS24 MCID: JBR035 MIFTS: 46	Joubert Syndrome 24 (JBTS24) 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 24

MalaCards integrated aliases for Joubert Syndrome 24:

Name: Joubert Syndrome 24 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Jbts24 ⁵⁶ ¹² ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy

HPO:

³¹

joubert syndrome 24:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

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:0110993

OMIM ⁵⁶ 616654

OMIM Phenotypic Series ⁵⁶ PS213300

MeSH ⁴³ D002526 D005124 D052177

MedGen ⁴¹ C4084841 CN233319

SNOMED-CT via HPO ⁶⁸ 16026008 205131007 221360009 more

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Summaries for Joubert Syndrome 24

UniProtKB/Swiss-Prot : ⁷³ Joubert syndrome 24: 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, renal disease, liver fibrosis, and polydactyly.

MalaCards based summary : Joubert Syndrome 24, also known as jbts24, is related to joubert syndrome 14 and nephronophthisis 18. An important gene associated with Joubert Syndrome 24 is TCTN2 (Tectonic Family Member 2), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Signaling by Hedgehog. Affiliated tissues include brain, eye and liver, and related phenotypes are talipes equinovarus and global developmental delay

Disease Ontology : ¹² A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24.

OMIM : ⁵⁶ Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (616654)

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Related Diseases for Joubert Syndrome 24

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

Diseases related to Joubert Syndrome 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome 14	10.3	TMEM231 B9D1
2	nephronophthisis 18	10.2	NPHP1 CEP164
3	nephronophthisis 15	10.1	NPHP1 CEP164
4	nephronophthisis 1	10.1	NPHP1 B9D1 AHI1
5	joubert syndrome 15	10.1	RPGRIP1L NPHP1
6	congenital hepatic fibrosis	10.1	RPGRIP1L AHI1
7	arima syndrome	10.1	TMEM231 CEP290
8	retinal aplasia	10.1	NPHP1 CEP290
9	encephalocele	10.0	CEP290 B9D1
10	oculomotor apraxia	10.0	NPHP1 ARL13B AHI1
11	spinocerebellar ataxia 11	10.0	IFT88 CEP164
12	simpson-golabi-behmel syndrome, type 2	9.9	IFT88 CEP290
13	nephronophthisis 13	9.9	NPHP1 CEP290 CEP164
14	nephronophthisis 12	9.9	NPHP1 CEP290
15	cogan syndrome	9.9	NPHP1 CEP290 AHI1
16	orofaciodigital syndrome i	9.9	IFT88 CEP290 CEP164
17	nephronophthisis 11	9.8	RPGRIP1L NPHP1 CEP290
18	johanson-blizzard syndrome	9.8	TMEM231 RPGRIP1L CEP290
19	nephronophthisis 7	9.8	RPGRIP1L NPHP1 CEP290
20	nephronophthisis 16	9.8	RPGRIP1L NPHP1 CEP290
21	alstrom syndrome	9.8	RPGRIP1L NPHP1 CEP290
22	renal-hepatic-pancreatic dysplasia	9.8	NPHP1 CEP290
23	meckel syndrome, type 8	9.8	TMEM231 TCTN2 RPGRIP1L B9D1 ATP6V0A2
24	bardet-biedl syndrome 6	9.7	RPGRIP1L IFT88 CEP290
25	joubert syndrome 10	9.6	TCTN2 RPGRIP1L NPHP1 ARL13B AHI1
26	joubert syndrome 6	9.6	RPGRIP1L NPHP1 CEP290 AHI1
27	nephronophthisis 19	9.6	RPGRIP1L NPHP1 CEP290 AHI1
28	bardet-biedl syndrome 8	9.6	IFT88 CEP290
29	asphyxiating thoracic dystrophy	9.6	RPGRIP1L IFT88 CEP290 ARL13B
30	orofaciodigital syndrome	9.6	TMEM231 NPHP1 IFT88 CEP290 CEP164
31	nephronophthisis 14	9.5	TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
32	apraxia	9.4	TCTN2 RPGRIP1L NPHP1 CEP290 AHI1
33	joubert syndrome 9	9.4	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
34	joubert syndrome 7	9.4	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
35	nephronophthisis 9	9.4	RPGRIP1L NPHP1 CEP290 CEP164 AHI1
36	joubert syndrome 8	9.4	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
37	meckel syndrome, type 2	9.3	TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
38	meckel syndrome, type 5	9.3	TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
39	meckel syndrome, type 6	9.3	TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
40	retinal degeneration	9.3	RPGRIP1L NPHP1 IFT88 CEP290 CEP164
41	joubert syndrome 2	9.3	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
42	joubert syndrome 13	9.3	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
43	joubert syndrome 4	9.3	TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
44	physical disorder	9.2	PTCH1 IFT88 CEP290 ARL13B
45	meckel syndrome, type 4	9.2	TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
46	joubert syndrome 5	9.1	TCTN2 RPGRIP1L NPHP1 CEP290 B9D1 ARL13B
47	joubert syndrome 3	9.1	TCTN2 RPGRIP1L NPHP1 CEP290 B9D1 ARL13B
48	cranioectodermal dysplasia 1	9.0	TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 ARL13B
49	nephronophthisis 2	9.0	RPGRIP1L NPHP1 IFT88 CEP290 B9D1 ARL13B
50	ellis-van creveld syndrome	9.0	RPGRIP1L PTCH1 IFT88 CEP290 ARL13B

Graphical network of the top 20 diseases related to Joubert Syndrome 24:

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Symptoms & Phenotypes for Joubert Syndrome 24

Human phenotypes related to Joubert Syndrome 24:

³¹ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	talipes equinovarus ³¹	occasional (7.5%)	HP:0001762
2	global developmental delay ³¹		HP:0001263
3	gait disturbance ³¹		HP:0001288
4	spasticity ³¹		HP:0001257
5	nystagmus ³¹		HP:0000639
6	absent speech ³¹		HP:0001344
7	hyperreflexia ³¹		HP:0001347
8	dysmetria ³¹		HP:0001310
9	polymicrogyria ³¹		HP:0002126
10	cerebellar hypoplasia ³¹		HP:0001321
11	pachygyria ³¹		HP:0001302
12	postaxial hand polydactyly ³¹		HP:0001162
13	generalized hypotonia ³¹		HP:0001290
14	hypermetropia ³¹		HP:0000540

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
spasticity
ataxia
absent speech
hyperreflexia
dysmetria
more

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
polydactyly, postaxial

Head And Neck Eyes:
nystagmus
hyperopia

Skeletal Feet:
talipes equinovarus (in some patients)
polydactyly, postaxial

Clinical features from OMIM:

616654

MGI Mouse Phenotypes related to Joubert Syndrome 24:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.27	ADCY3 AHI1 ARL13B B9D1 CAT CEP290
2	growth/size/body region	MP:0005378	10.17	ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
3	cardiovascular system	MP:0005385	10.16	ADCY3 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L
4	mortality/aging	MP:0010768	10.15	ADCY3 AHI1 ARL13B B9D1 CAT CEP164
5	nervous system	MP:0003631	10.13	ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
6	craniofacial	MP:0005382	10.02	B9D1 CEP290 IFT88 PTCH1 RPGRIP1L SUCO
7	embryo	MP:0005380	10	ARL13B B9D1 IFT88 PTCH1 RPGRIP1L TCTN2
8	renal/urinary system	MP:0005367	9.96	ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
9	limbs/digits/tail	MP:0005371	9.88	B9D1 IFT88 PTCH1 RPGRIP1L TCTN2 TMEM231
10	respiratory system	MP:0005388	9.63	ARL13B CEP290 IFT88 PTCH1 RPGRIP1L SUCO
11	vision/eye	MP:0005391	9.32	AHI1 ARL13B B9D1 CEP290 IFT88 NPHP1
12	taste/olfaction	MP:0005394	9.26	ADCY3 ADCY8 CEP290 PTCH1

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Drugs & Therapeutics for Joubert Syndrome 24

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 24

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Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 24 ²⁹	TCTN2

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Anatomical Context for Joubert Syndrome 24

MalaCards organs/tissues related to Joubert Syndrome 24:

⁴⁰

Brain, Eye, Liver

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Publications for Joubert Syndrome 24

Articles related to Joubert Syndrome 24:

#	Title	Authors	PMID	Year
1	Tectonic gene mutations in patients with Joubert syndrome. ⁵⁶ ⁶	Huppke P...Bergmann C	25118024	2015
2	Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. ⁶ ⁵⁶	Sang L...Jackson PK	21565611	2011
3	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁵⁶	Bachmann-Gagescu R...Doherty D	26092869	2015
4	Exome sequencing can improve diagnosis and alter patient management. ⁶	Dixon-Salazar TJ...Gleeson JG	22700954	2012
5	Clinical utility gene card for: Joubert syndrome. ⁶	Valente EM...Dallapiccola B	21448235	2011
6	Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ⁶	Dafinger C...Bolz HJ	21633164	2011
7	Joubert Syndrome ⁶	Parisi M...Glass I	20301500	2003

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Genes for Joubert Syndrome 24

Genes related to Joubert Syndrome 24 (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TCTN2	Tectonic Family Member 2	Protein Coding	1026.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25118024 21565611 20301500 (more) 21448235
2	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	8.18	GeneCards inferred via : Variants (show sections)
3	TMEM231	Transmembrane Protein 231	Protein Coding	6.04	DISEASES inferred ¹⁵
4	B9D1	B9 Domain Containing 1	Protein Coding	5.81	DISEASES inferred ¹⁵
5	CEP164	Centrosomal Protein 164	Protein Coding	5.57	DISEASES inferred ¹⁵
6	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	5.18	DISEASES inferred ¹⁵
7	NPHP1	Nephrocystin 1	Protein Coding	5.08	DISEASES inferred ¹⁵
8	AHI1	Abelson Helper Integration Site 1	Protein Coding	5.07	DISEASES inferred ¹⁵
9	ADCY8	Adenylate Cyclase 8	Protein Coding	5.05	DISEASES inferred ¹⁵
10	IFT88	Intraflagellar Transport 88	Protein Coding	5.04	DISEASES inferred ¹⁵
11	RPGRIP1L	RPGRIP1 Like	Protein Coding	4.98	DISEASES inferred ¹⁵
12	SUCO	SUN Domain Containing Ossification Factor	Protein Coding	4.78	DISEASES inferred ¹⁵
13	CEP290	Centrosomal Protein 290	Protein Coding	4.77	DISEASES inferred ¹⁵
14	ADCY3	Adenylate Cyclase 3	Protein Coding	4.61	DISEASES inferred ¹⁵
15	PTCH1	Patched 1	Protein Coding	3.95	DISEASES inferred ¹⁵
16	CAT	Catalase	Protein Coding	3.54	DISEASES inferred ¹⁵

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Variations for Joubert Syndrome 24

ClinVar genetic disease variations for Joubert Syndrome 24:

⁶ (show top 50) (show all 77) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TCTN2	NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)	SNV	Pathogenic	218100	rs863225426	12:124191376-124191376	12:123706829-123706829
2	TCTN2	NM_024809.5(TCTN2):c.1235-1G>A	SNV	Pathogenic	218099	rs863225425	12:124179766-124179766	12:123695219-123695219
3	TCTN2	NM_024809.5(TCTN2):c.76dup (p.Asp26fs)	duplication	Pathogenic	217700	rs863225222	12:124155857-124155858	12:123671310-123671311
4	TCTN2	NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	SNV	Conflicting interpretations of pathogenicity	217696	rs187433682	12:124179406-124179406	12:123694859-123694859
5	TCTN2	NM_024809.5(TCTN2):c.564+3A>C	SNV	Conflicting interpretations of pathogenicity	307547	rs761089886	12:124163839-124163839	12:123679292-123679292
6	TCTN2	NM_024809.5(TCTN2):c.588G>A (p.Thr196=)	SNV	Conflicting interpretations of pathogenicity	307549	rs201545344	12:124171406-124171406	12:123686859-123686859
7	TCTN2	NM_024809.5(TCTN2):c.888G>A (p.Pro296=)	SNV	Conflicting interpretations of pathogenicity	307556	rs116845100	12:124172721-124172721	12:123688174-123688174
8	TCTN2	NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala)	SNV	Conflicting interpretations of pathogenicity	307548	rs146698907	12:124171389-124171389	12:123686842-123686842
9	TCTN2	NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser)	SNV	Conflicting interpretations of pathogenicity	307550	rs139927033	12:124171453-124171453	12:123686906-123686906
10	ATP6V0A2 , TCTN2	NM_024809.5(TCTN2):c.*45G>A	SNV	Conflicting interpretations of pathogenicity	307562	rs142969969	12:124192305-124192305	12:123707758-123707758
11	TCTN2	NM_024809.5(TCTN2):c.615C>A (p.Gly205=)	SNV	Conflicting interpretations of pathogenicity	261790	rs147485641	12:124171433-124171433	12:123686886-123686886
12	TCTN2	NM_024809.5(TCTN2):c.1612+12C>T	SNV	Conflicting interpretations of pathogenicity	261787	rs117614122	12:124184369-124184369	12:123699822-123699822
13	TCTN2	NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)	SNV	Conflicting interpretations of pathogenicity	126288	rs79251326	12:124171417-124171417	12:123686870-123686870
14	TCTN2	NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	SNV	Conflicting interpretations of pathogenicity	198261	rs149430216	12:124171538-124171538	12:123686991-123686991
15	TCTN2	NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	SNV	Conflicting interpretations of pathogenicity	198262	rs147485641	12:124171433-124171433	12:123686886-123686886
16	TCTN2	NM_024809.5(TCTN2):c.810C>T (p.Asp270=)	SNV	Conflicting interpretations of pathogenicity	198593	rs144567556	12:124172643-124172643	12:123688096-123688096
17	TCTN2	NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)	SNV	Conflicting interpretations of pathogenicity	697155		12:124179439-124179439	12:123694892-123694892
18	TCTN2	NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)	SNV	Uncertain significance	882803		12:124155863-124155863	12:123671316-123671316
19	TCTN2	NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)	SNV	Uncertain significance	883591		12:124158183-124158183	12:123673636-123673636
20	TCTN2	NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)	SNV	Uncertain significance	881226		12:124158195-124158195	12:123673648-123673648
21	TCTN2	NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)	SNV	Uncertain significance	881228		12:124163762-124163762	12:123679215-123679215
22	TCTN2	NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)	SNV	Uncertain significance	883631		12:124171489-124171489	12:123686942-123686942
23	TCTN2	NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)	SNV	Uncertain significance	881278		12:124171570-124171570	12:123687023-123687023
24	TCTN2	NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)	SNV	Uncertain significance	881279		12:124172629-124172629	12:123688082-123688082
25	TCTN2	NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)	SNV	Uncertain significance	882885		12:124175096-124175096	12:123690549-123690549
26	TCTN2	NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)	SNV	Uncertain significance	883681		12:124179799-124179799	12:123695252-123695252
27	TCTN2	NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)	SNV	Uncertain significance	881340		12:124180978-124180978	12:123696431-123696431
28	TCTN2	NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)	SNV	Uncertain significance	881783		12:124184318-124184318	12:123699771-123699771
29	TCTN2	NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)	SNV	Uncertain significance	881784		12:124189128-124189128	12:123704581-123704581
30	TCTN2	NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)	SNV	Uncertain significance	881785		12:124189165-124189165	12:123704618-123704618
31	TCTN2	NM_024809.5(TCTN2):c.1872A>G (p.Ala624=)	SNV	Uncertain significance	882933		12:124191375-124191375	12:123706828-123706828
32	TCTN2	NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)	SNV	Uncertain significance	883728		12:124191585-124191585	12:123707038-123707038
33	TCTN2	NM_024809.5(TCTN2):c.*71T>G	SNV	Uncertain significance	881390		12:124192331-124192331	12:123707784-123707784
34	TCTN2	NM_024809.5(TCTN2):c.*146C>T	SNV	Uncertain significance	881391		12:124192406-124192406	12:123707859-123707859
35	TCTN2	NM_024809.5(TCTN2):c.*290C>G	SNV	Uncertain significance	881834		12:124192550-124192550	12:123708003-123708003
36	TCTN2	NM_024809.5(TCTN2):c.*477G>A	SNV	Uncertain significance	882984		12:124192737-124192737	12:123708190-123708190
37	TCTN2	NM_024809.5(TCTN2):c.*493T>A	SNV	Uncertain significance	882985		12:124192753-124192753	12:123708206-123708206
38	TCTN2	NM_024809.5(TCTN2):c.*559C>T	SNV	Uncertain significance	883782		12:124192819-124192819	12:123708272-123708272
39	TCTN2	NM_024809.5(TCTN2):c.*562G>C	SNV	Uncertain significance	883783		12:124192822-124192822	12:123708275-123708275
40	TCTN2	NM_024809.5(TCTN2):c.*608T>C	SNV	Uncertain significance	881451		12:124192868-124192868	12:123708321-123708321
41	TCTN2	NM_024809.5(TCTN2):c.267+3A>G	SNV	Uncertain significance	883590		12:124156682-124156682	12:123672135-123672135
42	TCTN2	NM_024809.5(TCTN2):c.464-7T>A	SNV	Uncertain significance	881227		12:124163729-124163729	12:123679182-123679182
43	TCTN2	NM_024809.5(TCTN2):c.1393+15T>C	SNV	Uncertain significance	881341		12:124181057-124181057	12:123696510-123696510
44	TCTN2	NM_024809.5(TCTN2):c.1394-6T>C	SNV	Uncertain significance	881342		12:124181628-124181628	12:123697081-123697081
45	TCTN2	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	SNV	Uncertain significance	212388	rs145374149	12:124171486-124171486	12:123686939-123686939
46	TCTN2	NM_024809.5(TCTN2):c.677G>A (p.Arg226His)	SNV	Uncertain significance	307552	rs774785140	12:124171495-124171495	12:123686948-123686948
47	TCTN2	NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)	SNV	Uncertain significance	307553	rs151318349	12:124172609-124172609	12:123688062-123688062
48	TCTN2	NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)	SNV	Uncertain significance	307544	rs137939978	12:124156614-124156614	12:123672067-123672067
49	TCTN2	NM_024809.5(TCTN2):c.813A>C (p.Ala271=)	SNV	Uncertain significance	307554	rs886049054	12:124172646-124172646	12:123688099-123688099
50	TCTN2	NM_024809.5(TCTN2):c.892G>C (p.Val298Leu)	SNV	Uncertain significance	307557	rs886049055	12:124175080-124175080	12:123690533-123690533

Sources

Expression for Joubert Syndrome 24

Search GEO for disease gene expression data for Joubert Syndrome 24.

Sources

Pathways for Joubert Syndrome 24

Pathways related to Joubert Syndrome 24 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	12.49	TCTN2 RPGRIP1L NPHP1 CEP290 CEP164 B9D1
2	Signaling by Hedgehog ⁶⁵ Show member pathways Activation of SMO ⁶⁵ Hedgehog off' state ⁶⁵ Hedgehog on' state ⁶⁵	12.09	RPGRIP1L PTCH1 IFT88 ADCY8 ADCY3
3	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12	TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 CEP164
4	Longevity regulating pathway ³⁶ Show member pathways Longevity regulating pathway - multiple species ³⁶	11.61	CAT ADCY8 ADCY3

Sources

GO Terms for Joubert Syndrome 24

Cellular components related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	10.03	TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 CEP164
2	cell projection	GO:0042995	9.9	TMEM231 TCTN2 RPGRIP1L NPHP1 IFT88 CEP290
3	centrosome	GO:0005813	9.88	RPGRIP1L IFT88 CEP290 CEP164 B9D1 AHI1
4	centriole	GO:0005814	9.78	IFT88 CEP290 CEP164 AHI1
5	ciliary basal body	GO:0036064	9.72	RPGRIP1L IFT88 CEP290 B9D1 AHI1
6	motile cilium	GO:0031514	9.69	NPHP1 IFT88 ARL13B
7	photoreceptor connecting cilium	GO:0032391	9.67	RPGRIP1L NPHP1 CEP290
8	ciliary membrane	GO:0060170	9.67	TMEM231 TCTN2 PTCH1 ARL13B
9	non-motile cilium	GO:0097730	9.63	IFT88 ARL13B AHI1
10	cilium	GO:0005929	9.61	TMEM231 RPGRIP1L PTCH1 NPHP1 IFT88 CEP290
11	ciliary transition zone	GO:0035869	9.56	TMEM231 RPGRIP1L CEP290 B9D1
12	MKS complex	GO:0036038	9.02	TMEM231 TCTN2 CEP290 B9D1 AHI1

Biological processes related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	in utero embryonic development	GO:0001701	9.76	TMEM231 RPGRIP1L PTCH1 B9D1
2	cell projection organization	GO:0030030	9.76	TMEM231 TCTN2 NPHP1 IFT88 CEP290 CEP164
3	kidney development	GO:0001822	9.71	RPGRIP1L IFT88 CAT
4	smoothened signaling pathway	GO:0007224	9.65	TMEM231 TCTN2 PTCH1 B9D1 ARL13B
5	regulation of protein localization	GO:0032880	9.61	TMEM231 PTCH1 B9D1
6	vasculature development	GO:0001944	9.6	TMEM231 B9D1
7	cellular response to glucagon stimulus	GO:0071377	9.59	ADCY8 ADCY3
8	limb morphogenesis	GO:0035108	9.58	RPGRIP1L PTCH1
9	regulation of smoothened signaling pathway	GO:0008589	9.58	RPGRIP1L PTCH1
10	camera-type eye development	GO:0043010	9.58	TMEM231 RPGRIP1L B9D1
11	hindbrain development	GO:0030902	9.57	CEP290 AHI1
12	activation of protein kinase A activity	GO:0034199	9.56	ADCY8 ADCY3
13	cyclic nucleotide biosynthetic process	GO:0009190	9.55	ADCY8 ADCY3
14	non-motile cilium assembly	GO:1905515	9.54	RPGRIP1L IFT88 ARL13B
15	left/right axis specification	GO:0070986	9.52	ARL13B AHI1
16	cellular response to forskolin	GO:1904322	9.51	ADCY8 ADCY3
17	neural tube patterning	GO:0021532	9.5	RPGRIP1L PTCH1 ARL13B
18	ciliary basal body-plasma membrane docking	GO:0097711	9.5	TCTN2 RPGRIP1L NPHP1 CEP290 CEP164 B9D1
19	cAMP biosynthetic process	GO:0006171	9.49	ADCY8 ADCY3
20	neuroepithelial cell differentiation	GO:0060563	9.48	TMEM231 B9D1
21	cilium assembly	GO:0060271	9.28	TMEM231 TCTN2 RPGRIP1L IFT88 CEP290 CEP164

Molecular functions related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorus-oxygen lyase activity	GO:0016849	9.16	ADCY8 ADCY3
2	adenylate cyclase activity	GO:0004016	8.96	ADCY8 ADCY3
3	hedgehog receptor activity	GO:0008158	8.62	PTCH1 B9D1

Sources

Sources for Joubert Syndrome 24

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 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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 24 (JBTS24)

Aliases & Classifications for Joubert Syndrome 24

MalaCards integrated aliases for Joubert Syndrome 24:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 24

Related Diseases for Joubert Syndrome 24

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 24 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 24:

Symptoms & Phenotypes for Joubert Syndrome 24

Human phenotypes related to Joubert Syndrome 24:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Joubert Syndrome 24:

Drugs & Therapeutics for Joubert Syndrome 24

Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

Anatomical Context for Joubert Syndrome 24

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Genes for Joubert Syndrome 24

Genes related to Joubert Syndrome 24 (1 elite genes):

Variations for Joubert Syndrome 24

ClinVar genetic disease variations for Joubert Syndrome 24:

Expression for Joubert Syndrome 24

Pathways for Joubert Syndrome 24

Pathways related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 24

Cellular components related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

Molecular functions related to Joubert Syndrome 24 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 24