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

JBTS24 MCID: JBR035 MIFTS: 45	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 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Jbts24 ⁵⁷ ¹² ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 616654

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ 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 meckel syndrome, type 7 and cone-rod dystrophy 16. 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 eye and brain, and related phenotypes are talipes equinovarus and spasticity

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® : ⁵⁷ 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) (Updated 05-Mar-2021)

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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
Joubert Syndrome 37

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

(show top 50) (show all 80)

#	Related Disease	Score	Top Affiliating Genes
1	meckel syndrome, type 7	10.2	TMEM231 B9D1
2	cone-rod dystrophy 16	10.1	TMEM231 CEP164 B9D1
3	nephronophthisis 13	10.1	NPHP1 CEP164
4	congenital hepatic fibrosis	10.1	RPGRIP1L AHI1
5	nephronophthisis 18	10.1	NPHP1 CEP164
6	nephronophthisis 15	10.0	NPHP1 CEP164
7	spinocerebellar ataxia 11	10.0	IFT88 CEP164
8	oculomotor apraxia	10.0	NPHP1 AHI1
9	meckel syndrome, type 8	9.9	TCTN2 RPGRIP1L B9D1 ATP6V0A2
10	joubert syndrome 15	9.9	TMEM231 RPGRIP1L NPHP1
11	encephalocele	9.9	CEP290 B9D1
12	polycystic liver disease 1 with or without kidney cysts	9.8	PTCH1 NPHP1
13	retinal aplasia	9.8	NPHP1 CEP290
14	acrocallosal syndrome	9.8	RPGRIP1L NPHP1 AHI1
15	joubert syndrome 14	9.8	TMEM231 RPGRIP1L NPHP1 B9D1
16	bardet-biedl syndrome 11	9.7	RPGRIP1L CEP290
17	simpson-golabi-behmel syndrome, type 2	9.7	IFT88 CEP290
18	renal-hepatic-pancreatic dysplasia	9.7	NPHP1 CEP290
19	johanson-blizzard syndrome	9.7	TMEM231 RPGRIP1L CEP290
20	ciliopathy	9.7	TMEM231 RPGRIP1L CEP290
21	nephronophthisis 1	9.7	RPGRIP1L NPHP1 B9D1 AHI1
22	alstrom syndrome	9.7	RPGRIP1L CEP290
23	bardet-biedl syndrome 8	9.6	IFT88 CEP290
24	enophthalmos	9.6	CEP290 AHI1
25	orofaciodigital syndrome i	9.6	IFT88 CEP290 CEP164
26	nephronophthisis 11	9.6	RPGRIP1L NPHP1 CEP290
27	holoprosencephaly	9.6	TCTN2 PTCH1 IFT88 ARL13B
28	nephronophthisis 16	9.6	RPGRIP1L NPHP1 CEP290
29	joubert syndrome 10	9.5	TCTN2 RPGRIP1L NPHP1 ARL13B AHI1
30	orofaciodigital syndrome	9.5	TMEM231 IFT88 CEP290 CEP164
31	bardet-biedl syndrome 6	9.5	RPGRIP1L IFT88 CEP290
32	apraxia	9.5	TCTN2 NPHP1 CEP290 AHI1
33	joubert syndrome 9	9.5	RPGRIP1L CEP290 ARL13B AHI1
34	meckel syndrome, type 2	9.5	TMEM231 TCTN2 RPGRIP1L CEP290 B9D1
35	nephronophthisis 14	9.5	TCTN2 RPGRIP1L NPHP1 CEP290
36	bardet-biedl syndrome 1	9.4	NPHP1 IFT88 CEP290
37	nephronophthisis 12	9.4	RPGRIP1L NPHP1 CEP290 CEP164
38	bardet-biedl syndrome 3	9.4	IFT88 CEP290
39	cogan syndrome	9.4	RPGRIP1L NPHP1 CEP290 AHI1
40	joubert syndrome 6	9.4	RPGRIP1L NPHP1 CEP290 AHI1
41	nephronophthisis 19	9.4	RPGRIP1L NPHP1 CEP290 AHI1
42	nephronophthisis 7	9.4	RPGRIP1L NPHP1 CEP290 AHI1
43	spinocerebellar ataxia 29	9.3	TCTN2 RPGRIP1L CEP290 B9D1 AHI1
44	physical disorder	9.3	PTCH1 IFT88 CEP290 ARL13B
45	nephronophthisis 9	9.2	RPGRIP1L NPHP1 CEP290 CEP164 AHI1
46	joubert syndrome 2	9.2	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
47	joubert syndrome 8	9.2	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
48	joubert syndrome 7	9.2	RPGRIP1L NPHP1 CEP290 ARL13B AHI1
49	polydactyly	9.2	TMEM231 TCTN2 RPGRIP1L PTCH1 CEP290 B9D1
50	meckel syndrome, type 5	9.2	TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1

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	spasticity ³¹		HP:0001257
3	hyperreflexia ³¹		HP:0001347
4	nystagmus ³¹		HP:0000639
5	gait disturbance ³¹		HP:0001288
6	global developmental delay ³¹		HP:0001263
7	absent speech ³¹		HP:0001344
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®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
absent speech
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Joubert Syndrome 24:

⁴⁶ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.19	ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
2	growth/size/body region	MP:0005378	10.13	ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
3	cardiovascular system	MP:0005385	10.11	ADCY3 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L
4	nervous system	MP:0003631	10.03	ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
5	mortality/aging	MP:0010768	10.02	ADCY3 AHI1 ARL13B B9D1 CEP164 CEP290
6	embryo	MP:0005380	10	ARL13B B9D1 IFT88 PTCH1 RPGRIP1L TCTN2
7	craniofacial	MP:0005382	9.95	B9D1 CEP290 IFT88 PTCH1 RPGRIP1L TCTN2
8	integument	MP:0010771	9.95	ADCY8 ATP6V0A2 B9D1 IFT88 NPHP1 PTCH1
9	limbs/digits/tail	MP:0005371	9.85	B9D1 IFT88 PTCH1 RPGRIP1L TCTN2 TMEM231
10	renal/urinary system	MP:0005367	9.81	ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
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

Eye, Brain

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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. ⁵⁷ ⁶	Huppke P...Bergmann C	25118024	2015
2	Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. ⁶ ⁵⁷	Sang L...Jackson PK	21565611	2011
3	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁵⁷	Bachmann-Gagescu R...Doherty D	26092869	2015

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Genes for Joubert Syndrome 24

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TCTN2	Tectonic Family Member 2	Protein Coding	1026.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21565611
2	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	8.08	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	5.82	DISEASES inferred ¹⁵
5	CEP164	Centrosomal Protein 164	Protein Coding	5.57	DISEASES inferred ¹⁵
6	ADCY8	Adenylate Cyclase 8	Protein Coding	5.22	DISEASES inferred ¹⁵
7	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	5.18	DISEASES inferred ¹⁵
8	ADCY3	Adenylate Cyclase 3	Protein Coding	5.16	DISEASES inferred ¹⁵
9	AHI1	Abelson Helper Integration Site 1	Protein Coding	5.11	DISEASES inferred ¹⁵
10	RPGRIP1L	RPGRIP1 Like	Protein Coding	5.09	DISEASES inferred ¹⁵
11	NPHP1	Nephrocystin 1	Protein Coding	5.08	DISEASES inferred ¹⁵
12	IFT88	Intraflagellar Transport 88	Protein Coding	5.03	DISEASES inferred ¹⁵
13	CEP290	Centrosomal Protein 290	Protein Coding	4.78	DISEASES inferred ¹⁵
14	PTCH1	Patched 1	Protein Coding	3.94	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 79)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TCTN2	NM_024809.5(TCTN2):c.76dup (p.Asp26fs)	Duplication	Pathogenic	217700	rs863225222	12:124155857-124155858	12:123671310-123671311
2	TCTN2	NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)	SNV	Pathogenic	218100	rs863225426	12:124191376-124191376	12:123706829-123706829
3	TCTN2	NM_024809.5(TCTN2):c.703del (p.Leu235fs)	Deletion	Pathogenic	212389	rs760830696	12:124171521-124171521	12:123686974-123686974
4	TCTN2	NM_024809.5(TCTN2):c.1235-1G>A	SNV	Pathogenic	218099	rs863225425	12:124179766-124179766	12:123695219-123695219
5	TCTN2	NM_024809.5(TCTN2):c.1573G>C (p.Asp525His)	SNV	Uncertain significance	881783		12:124184318-124184318	12:123699771-123699771
6	TCTN2	NM_024809.5(TCTN2):c.*493T>A	SNV	Uncertain significance	882985		12:124192753-124192753	12:123708206-123708206
7	TCTN2	NM_024809.5(TCTN2):c.*559C>T	SNV	Uncertain significance	883782		12:124192819-124192819	12:123708272-123708272
8	TCTN2	NM_024809.5(TCTN2):c.*562G>C	SNV	Uncertain significance	883783		12:124192822-124192822	12:123708275-123708275
9	TCTN2	NM_024809.5(TCTN2):c.1872A>G (p.Ala624=)	SNV	Uncertain significance	882933		12:124191375-124191375	12:123706828-123706828
10	TCTN2	NM_024809.5(TCTN2):c.*290C>G	SNV	Uncertain significance	881834		12:124192550-124192550	12:123708003-123708003
11	TCTN2	NM_024809.5(TCTN2):c.*477G>A	SNV	Uncertain significance	882984		12:124192737-124192737	12:123708190-123708190
12	TCTN2	NM_024809.5(TCTN2):c.267+3A>G	SNV	Uncertain significance	883590		12:124156682-124156682	12:123672135-123672135
13	TCTN2	NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly)	SNV	Uncertain significance	883591		12:124158183-124158183	12:123673636-123673636
14	TCTN2	NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys)	SNV	Uncertain significance	883631		12:124171489-124171489	12:123686942-123686942
15	TCTN2	NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)	SNV	Uncertain significance	882885		12:124175096-124175096	12:123690549-123690549
16	TCTN2	NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr)	SNV	Uncertain significance	697155	rs372235872	12:124179439-124179439	12:123694892-123694892
17	TCTN2	NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val)	SNV	Uncertain significance	883681		12:124179799-124179799	12:123695252-123695252
18	TCTN2	NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)	SNV	Uncertain significance	883728		12:124191585-124191585	12:123707038-123707038
19	TCTN2	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	SNV	Uncertain significance	212388	rs145374149	12:124171486-124171486	12:123686939-123686939
20	TCTN2	NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)	SNV	Uncertain significance	217696	rs187433682	12:124179406-124179406	12:123694859-123694859
21	TCTN2	NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)	SNV	Uncertain significance	881226		12:124158195-124158195	12:123673648-123673648
22	TCTN2	NM_024809.5(TCTN2):c.464-7T>A	SNV	Uncertain significance	881227		12:124163729-124163729	12:123679182-123679182
23	TCTN2	NM_024809.5(TCTN2):c.490G>T (p.Val164Leu)	SNV	Uncertain significance	881228		12:124163762-124163762	12:123679215-123679215
24	TCTN2	NM_024809.5(TCTN2):c.720C>G (p.Pro240=)	SNV	Uncertain significance	198261	rs149430216	12:124171538-124171538	12:123686991-123686991
25	TCTN2	NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys)	SNV	Uncertain significance	881278		12:124171570-124171570	12:123687023-123687023
26	TCTN2	NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)	SNV	Uncertain significance	881279		12:124172629-124172629	12:123688082-123688082
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.1393+15T>C	SNV	Uncertain significance	881341		12:124181057-124181057	12:123696510-123696510
29	TCTN2	NM_024809.5(TCTN2):c.1394-6T>C	SNV	Uncertain significance	881342		12:124181628-124181628	12:123697081-123697081
30	TCTN2	NM_024809.5(TCTN2):c.*71T>G	SNV	Uncertain significance	881390		12:124192331-124192331	12:123707784-123707784
31	TCTN2	NM_024809.5(TCTN2):c.*146C>T	SNV	Uncertain significance	881391		12:124192406-124192406	12:123707859-123707859
32	TCTN2	NM_024809.5(TCTN2):c.*608T>C	SNV	Uncertain significance	881451		12:124192868-124192868	12:123708321-123708321
33	TCTN2	NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)	SNV	Uncertain significance	881784		12:124189128-124189128	12:123704581-123704581
34	TCTN2	NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)	SNV	Uncertain significance	881785		12:124189165-124189165	12:123704618-123704618
35	TCTN2	NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)	SNV	Uncertain significance	882803		12:124155863-124155863	12:123671316-123671316
36	TCTN2	NM_024809.5(TCTN2):c.615C>A (p.Gly205=)	SNV	Uncertain significance	261790	rs147485641	12:124171433-124171433	12:123686886-123686886
37	TCTN2	NM_024809.5(TCTN2):c.615C>T (p.Gly205=)	SNV	Uncertain significance	198262	rs147485641	12:124171433-124171433	12:123686886-123686886
38	TCTN2	NM_024809.5(TCTN2):c.1848C>T (p.Ser616=)	SNV	Uncertain significance	307560	rs201834126	12:124191351-124191351	12:123706804-123706804
39	TCTN2	NM_024809.5(TCTN2):c.1818C>G (p.His606Gln)	SNV	Uncertain significance	307559	rs778418417	12:124191321-124191321	12:123706774-123706774
40	TCTN2	NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu)	SNV	Uncertain significance	307558	rs372687837	12:124189178-124189178	12:123704631-123704631
41	TCTN2	NM_024809.5(TCTN2):c.813A>C (p.Ala271=)	SNV	Uncertain significance	307554	rs886049054	12:124172646-124172646	12:123688099-123688099
42	TCTN2	NM_024809.5(TCTN2):c.892G>C (p.Val298Leu)	SNV	Uncertain significance	307557	rs886049055	12:124175080-124175080	12:123690533-123690533
43	TCTN2	NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	SNV	Uncertain significance	212388	rs145374149	12:124171486-124171486	12:123686939-123686939
44	TCTN2	NM_024809.5(TCTN2):c.588G>A (p.Thr196=)	SNV	Uncertain significance	307549	rs201545344	12:124171406-124171406	12:123686859-123686859
45	TCTN2	NM_024809.5(TCTN2):c.*258G>C	SNV	Uncertain significance	307566	rs540710300	12:124192518-124192518	12:123707971-123707971
46	TCTN2	NM_024809.5(TCTN2):c.202A>G (p.Ile68Val)	SNV	Uncertain significance	307544	rs137939978	12:124156614-124156614	12:123672067-123672067
47	TCTN2	NM_024809.5(TCTN2):c.*166T>G	SNV	Uncertain significance	307565	rs886049057	12:124192426-124192426	12:123707879-123707879
48	TCTN2	NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)	SNV	Uncertain significance	307553	rs151318349	12:124172609-124172609	12:123688062-123688062
49	TCTN2	NM_024809.5(TCTN2):c.523T>G (p.Leu175Val)	SNV	Uncertain significance	307546	rs768824874	12:124163795-124163795	12:123679248-123679248
50	TCTN2	NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg)	SNV	Uncertain significance	307561	rs886049056	12:124191389-124191389	12:123706842-123706842

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Expression for Joubert Syndrome 24

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

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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

Sources

GO Terms for Joubert Syndrome 24

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	10.01	TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 CEP164
2	centrosome	GO:0005813	9.91	RPGRIP1L IFT88 CEP290 CEP164 B9D1 AHI1
3	cell projection	GO:0042995	9.9	TMEM231 TCTN2 RPGRIP1L NPHP1 IFT88 CEP290
4	centriole	GO:0005814	9.78	IFT88 CEP290 CEP164 AHI1
5	ciliary basal body	GO:0036064	9.72	RPGRIP1L IFT88 CEP290 B9D1 AHI1
6	cell-cell junction	GO:0005911	9.7	RPGRIP1L NPHP1 AHI1
7	motile cilium	GO:0031514	9.69	NPHP1 IFT88 ARL13B
8	photoreceptor connecting cilium	GO:0032391	9.67	RPGRIP1L NPHP1 CEP290
9	ciliary membrane	GO:0060170	9.67	TMEM231 TCTN2 PTCH1 ARL13B
10	ciliary transition zone	GO:0035869	9.65	TMEM231 TCTN2 RPGRIP1L CEP290 B9D1
11	non-motile cilium	GO:0097730	9.63	IFT88 ARL13B AHI1
12	cilium	GO:0005929	9.61	TMEM231 RPGRIP1L PTCH1 NPHP1 IFT88 CEP290
13	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	cell projection organization	GO:0030030	9.76	TMEM231 TCTN2 NPHP1 IFT88 CEP290 CEP164
2	in utero embryonic development	GO:0001701	9.71	TMEM231 RPGRIP1L PTCH1 B9D1
3	smoothened signaling pathway	GO:0007224	9.65	TMEM231 TCTN2 PTCH1 B9D1 ARL13B
4	regulation of protein localization	GO:0032880	9.63	TMEM231 PTCH1 B9D1
5	camera-type eye development	GO:0043010	9.61	TMEM231 RPGRIP1L B9D1
6	renal water homeostasis	GO:0003091	9.6	ADCY8 ADCY3
7	cellular response to glucagon stimulus	GO:0071377	9.59	ADCY8 ADCY3
8	vasculature development	GO:0001944	9.58	TMEM231 B9D1
9	limb morphogenesis	GO:0035108	9.58	RPGRIP1L PTCH1
10	regulation of smoothened signaling pathway	GO:0008589	9.57	RPGRIP1L PTCH1
11	hindbrain development	GO:0030902	9.56	CEP290 AHI1
12	activation of protein kinase A activity	GO:0034199	9.55	ADCY8 ADCY3
13	cyclic nucleotide biosynthetic process	GO:0009190	9.54	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

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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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

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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 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

MalaCards organs/tissues related to Joubert Syndrome 24:

Publications 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