JBTS24
MCID: JBR035
MIFTS: 43

Joubert Syndrome 24 (JBTS24)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



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 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, liver and eye, 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 : 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)

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 65)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 7 10.3 TMEM231 B9D1
2 nephronophthisis 18 10.2 NPHP1 CEP164
3 nephronophthisis 15 10.2 NPHP1 CEP164
4 congenital hepatic fibrosis 10.1 RPGRIP1L AHI1
5 nephronophthisis 1 10.1 NPHP1 B9D1 AHI1
6 arima syndrome 10.1 TMEM231 CEP290
7 joubert syndrome 21 10.1 NPHP1 CEP164 ARL13B
8 joubert syndrome 14 10.1 TMEM231 RPGRIP1L B9D1
9 retinal aplasia 10.1 NPHP1 CEP290
10 encephalocele 10.1 CEP290 B9D1
11 oculomotor apraxia 10.1 NPHP1 AHI1
12 simpson-golabi-behmel syndrome, type 2 10.0 IFT88 CEP290
13 nephronophthisis 12 9.9 NPHP1 CEP290
14 meckel syndrome, type 8 9.9 TMEM231 TCTN2 RPGRIP1L B9D1
15 nephronophthisis 13 9.9 NPHP1 CEP290 CEP164
16 asphyxiating thoracic dystrophy 9.9 RPGRIP1L IFT88 ARL13B
17 nephronophthisis 16 9.9 NPHP1 CEP290 CEP164
18 cogan syndrome 9.9 NPHP1 CEP290 AHI1
19 orofaciodigital syndrome i 9.9 IFT88 CEP290 CEP164
20 renal-hepatic-pancreatic dysplasia 9.9 NPHP1 CEP290
21 joubert syndrome 9 9.8 RPGRIP1L CEP290 ARL13B
22 nephronophthisis 11 9.8 RPGRIP1L NPHP1 CEP290
23 bardet-biedl syndrome 8 9.8 IFT88 CEP290
24 hydrolethalus syndrome 1 9.7 RPGRIP1L CEP290 B9D1 ARL13B
25 joubert syndrome 10 9.6 TCTN2 RPGRIP1L NPHP1 ARL13B AHI1
26 nephronophthisis 7 9.6 RPGRIP1L NPHP1 CEP290 CEP164
27 nephronophthisis 19 9.6 RPGRIP1L NPHP1 CEP290 AHI1
28 bardet-biedl syndrome 6 9.6 IFT88 CEP290
29 short-rib thoracic dysplasia 1 with or without polydactyly 9.5 RPGRIP1L NPHP1 IFT88 ARL13B AHI1
30 nephronophthisis 14 9.5 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
31 joubert syndrome 2 9.4 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
32 apraxia 9.4 TCTN2 RPGRIP1L NPHP1 CEP290 AHI1
33 joubert syndrome 6 9.4 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
34 nephronophthisis 9 9.4 RPGRIP1L NPHP1 CEP290 CEP164 AHI1
35 joubert syndrome 8 9.4 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
36 meckel syndrome, type 2 9.3 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
37 meckel syndrome, type 6 9.3 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
38 meckel syndrome, type 5 9.3 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
39 ellis-van creveld syndrome 9.3 RPGRIP1L PTCH1 IFT88 ARL13B
40 retinal degeneration 9.3 RPGRIP1L NPHP1 IFT88 CEP290 CEP164
41 joubert syndrome 5 9.3 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1 AHI1
42 joubert syndrome 4 9.3 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
43 joubert syndrome 3 9.3 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
44 joubert syndrome 7 9.2 RPGRIP1L NPHP1 CEP290 B9D1 ARL13B AHI1
45 physical disorder 9.2 PTCH1 IFT88 CEP290 ARL13B
46 nephronophthisis 2 9.2 RPGRIP1L NPHP1 IFT88 CEP290 B9D1 AHI1
47 orofaciodigital syndrome 9.2 TMEM231 TCTN2 NPHP1 IFT88 CEP290 CEP164
48 meckel syndrome, type 4 9.1 TMEM231 TCTN2 RPGRIP1L NPHP1 CEP290 B9D1
49 cranioectodermal dysplasia 1 9.0 TCTN2 RPGRIP1L NPHP1 IFT88 CEP290 ARL13B
50 leber congenital amaurosis 8.9 RPGRIP1L NPHP1 IFT88 CEP290 CEP164 ARL13B

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



Diseases related to Joubert Syndrome 24

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 generalized hypotonia 31 HP:0001290
8 absent speech 31 HP:0001344
9 dysmetria 31 HP:0001310
10 cerebellar hypoplasia 31 HP:0001321
11 polymicrogyria 31 HP:0002126
12 pachygyria 31 HP:0001302
13 postaxial hand polydactyly 31 HP:0001162
14 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Joubert Syndrome 24:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ADCY3 AHI1 ARL13B B9D1 CAT CEP290
2 growth/size/body region MP:0005378 10.2 ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
3 cardiovascular system MP:0005385 10.18 ADCY3 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L
4 mortality/aging MP:0010768 10.15 ADCY3 AHI1 ARL13B B9D1 CAT CEP164
5 homeostasis/metabolism MP:0005376 10.13 ADCY3 ADCY8 AHI1 ARL13B CAT CEP290
6 nervous system MP:0003631 10.13 ADCY3 ADCY8 AHI1 ARL13B B9D1 CEP290
7 craniofacial MP:0005382 10.04 B9D1 CEP290 IFT88 PTCH1 RPGRIP1L SUCO
8 embryo MP:0005380 10.02 ARL13B B9D1 IFT88 PTCH1 RPGRIP1L TCTN2
9 renal/urinary system MP:0005367 9.96 ADCY3 AHI1 ARL13B B9D1 CEP290 IFT88
10 limbs/digits/tail MP:0005371 9.88 B9D1 IFT88 PTCH1 RPGRIP1L TCTN2 TMEM231
11 respiratory system MP:0005388 9.63 ARL13B CEP290 IFT88 PTCH1 RPGRIP1L SUCO
12 vision/eye MP:0005391 9.28 AHI1 B9D1 CEP290 IFT88 NPHP1 PTCH1
13 taste/olfaction MP:0005394 9.26 ADCY3 ADCY8 CEP290 PTCH1

Drugs & Therapeutics for Joubert Syndrome 24

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 24

Genetic Tests for Joubert Syndrome 24

Genetic tests related to Joubert Syndrome 24:

# Genetic test Affiliating Genes
1 Joubert Syndrome 24 29 TCTN2

Anatomical Context for Joubert Syndrome 24

MalaCards organs/tissues related to Joubert Syndrome 24:

40
Brain, Liver, Eye, Kidney

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
25118024 2015
2
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 56 6
21565611 2011
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 56
26092869 2015
4
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
7
Joubert Syndrome 6
20301500 2003

Variations for Joubert Syndrome 24

ClinVar genetic disease variations for Joubert Syndrome 24:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1235-1G>ASNV Pathogenic 218099 rs863225425 12:124179766-124179766 12:123695219-123695219
3 TCTN2 NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter)SNV Pathogenic 218100 rs863225426 12:124191376-124191376 12:123706829-123706829
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.668C>T (p.Thr223Met)SNV Uncertain significance 212388 rs145374149 12:124171486-124171486 12:123686939-123686939

Expression for Joubert Syndrome 24

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

Pathways for Joubert Syndrome 24

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 10.01 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 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 ciliary transition zone GO:0035869 9.65 TMEM231 RPGRIP1L NPHP1 CEP290 B9D1
10 non-motile cilium GO:0097730 9.63 IFT88 ARL13B AHI1
11 cilium GO:0005929 9.61 TMEM231 RPGRIP1L PTCH1 NPHP1 IFT88 CEP290
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 cell projection organization GO:0030030 9.76 TMEM231 TCTN2 NPHP1 IFT88 CEP290 CEP164
2 in utero embryonic development GO:0001701 9.73 TMEM231 RPGRIP1L PTCH1 B9D1
3 kidney development GO:0001822 9.71 RPGRIP1L IFT88 CAT
4 smoothened signaling pathway GO:0007224 9.65 TMEM231 TCTN2 PTCH1 B9D1 ARL13B
5 camera-type eye development GO:0043010 9.63 TMEM231 RPGRIP1L B9D1
6 cellular response to glucagon stimulus GO:0071377 9.6 ADCY8 ADCY3
7 vasculature development GO:0001944 9.59 TMEM231 B9D1
8 limb morphogenesis GO:0035108 9.58 RPGRIP1L PTCH1
9 regulation of smoothened signaling pathway GO:0008589 9.58 RPGRIP1L PTCH1
10 regulation of protein localization GO:0032880 9.58 TMEM231 PTCH1 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 for Joubert Syndrome 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....