JBTS8
MCID: JBR013
MIFTS: 42

Joubert Syndrome 8 (JBTS8)

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

Aliases & Classifications for Joubert Syndrome 8

MalaCards integrated aliases for Joubert Syndrome 8:

Name: Joubert Syndrome 8 56 12 73 29 13 6 43 15 71
Jbts8 56 12 73
Joubert Syndrome, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
joubert syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111003
OMIM 56 612291
OMIM Phenotypic Series 56 PS213300
MedGen 41 C2676771
UMLS 71 C2676771

Summaries for Joubert Syndrome 8

UniProtKB/Swiss-Prot : 73 Joubert syndrome 8: 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.

MalaCards based summary : Joubert Syndrome 8, also known as jbts8, is related to joubert syndrome 21 and nephronophthisis 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 8 is ARL13B (ADP Ribosylation Factor Like GTPase 13B), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, kidney and liver, and related phenotypes are occipital encephalocele and obesity

Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the ARL13B gene on chromosome 3q11.1-q11.2.

More information from OMIM: 612291 PS213300

Related Diseases for Joubert Syndrome 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 21 10.2 NPHP1 ARL13B
2 nephronophthisis 1 10.2 NPHP1 AHI1
3 coach syndrome 10.0 TMEM67 RPGRIP1L CC2D2A
4 retinal aplasia 9.9 NPHP1 CEP290
5 ciliopathy 9.9 TMEM67 RPGRIP1L
6 nephronophthisis 13 9.9 NPHP1 CEP290
7 orofaciodigital syndrome i 9.8 OFD1 CEP290
8 oculomotor apraxia 9.8 NPHP1 AHI1
9 nephronophthisis 16 9.8 NPHP1 CEP290
10 joubert syndrome 14 9.8 TMEM216 RPGRIP1L
11 simpson-golabi-behmel syndrome, type 2 9.8 OFD1 CEP290
12 nephronophthisis 12 9.8 NPHP1 CEP290
13 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 ARL13B
14 encephalocele 9.7 TMEM67 CEP290 CC2D2A
15 orofaciodigital syndrome iv 9.7 TMEM216 OFD1
16 bardet-biedl syndrome 10 9.7 TMEM216 NPHP1
17 bardet-biedl syndrome 4 9.7 OFD1 CEP290
18 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A AHI1
19 physical disorder 9.6 OFD1 CEP290 ARL13B
20 pathologic nystagmus 9.6 TMEM67 CEP290 AHI1
21 joubert syndrome 13 9.6 TMEM67 TMEM216 CC2D2A
22 renal-hepatic-pancreatic dysplasia 9.6 OFD1 NPHP1 CEP290
23 acrocallosal syndrome 9.5 TMEM216 RPGRIP1L AHI1
24 arima syndrome 9.4 TMEM216 CEP290 CC2D2A
25 cogan syndrome 9.4 NPHP1 CEP290 CC2D2A AHI1
26 meckel syndrome, type 8 9.4 TMEM67 TMEM216 RPGRIP1L CC2D2A
27 retinal degeneration 9.3 TMEM67 RPGRIP1L NPHP1 CEP290
28 ellis-van creveld syndrome 9.3 TMEM216 RPGRIP1L OFD1 ARL13B
29 nephronophthisis 7 9.2 TMEM67 RPGRIP1L NPHP1 CEP290 CC2D2A
30 joubert syndrome 24 9.2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
31 nephronophthisis 14 9.2 TMEM67 RPGRIP1L NPHP1 CEP290 CC2D2A
32 nephronophthisis 19 9.1 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
33 short-rib thoracic dysplasia 6 with or without polydactyly 9.1 TMEM67 TMEM216 OFD1 IFT22
34 bardet-biedl syndrome 14 8.9 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A
35 joubert syndrome 9 8.8 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
36 short-rib thoracic dysplasia 1 with or without polydactyly 8.8 TMEM67 RPGRIP1L OFD1 NPHP1 CC2D2A ARL13B
37 hydrolethalus syndrome 1 8.7 TMEM67 TMEM216 RPGRIP1L CEP290 CC2D2A ARL13B
38 nephronophthisis 11 8.6 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
39 meckel syndrome, type 4 8.5 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
40 meckel syndrome, type 6 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290
41 meckel syndrome, type 5 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290
42 meckel syndrome, type 2 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290
43 nephronophthisis 9 8.4 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290
44 orofaciodigital syndrome 8.3 TMEM67 TMEM216 OFD1 NPHP1 CEP290 CC2D2A
45 apraxia 8.3 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
46 joubert syndrome 10 8.2 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CC2D2A
47 joubert syndrome 7 8.1 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48 joubert syndrome 6 8.1 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49 cranioectodermal dysplasia 1 7.9 TMEM67 RPGRIP1L OFD1 NPHP1 IFT22 CEP290
50 joubert syndrome 5 7.9 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290

Graphical network of the top 20 diseases related to Joubert Syndrome 8:



Diseases related to Joubert Syndrome 8

Symptoms & Phenotypes for Joubert Syndrome 8

Human phenotypes related to Joubert Syndrome 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 occipital encephalocele 31 occasional (7.5%) HP:0002085
2 obesity 31 HP:0001513
3 intellectual disability 31 HP:0001249
4 ataxia 31 HP:0001251
5 muscular hypotonia 31 HP:0001252
6 global developmental delay 31 HP:0001263
7 generalized hypotonia 31 HP:0001290
8 optic disc pallor 31 HP:0000543
9 oculomotor apraxia 31 HP:0000657
10 molar tooth sign on mri 31 HP:0002419
11 pigmentary retinopathy 31 HP:0000580

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
oculomotor apraxia
hypotonia
mental retardation
psychomotor delay
more
Growth Weight:
obesity (in 1 patient)

Head And Neck Eyes:
optic disc pallor
pigmentary retinopathy
abnormal eye movements
extinguished erg

Respiratory:
breathing anomalies

Clinical features from OMIM:

612291

UMLS symptoms related to Joubert Syndrome 8:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 AHI1 ARL13B CC2D2A CEP290 NPHP1 OFD1
2 nervous system MP:0003631 9.56 AHI1 ARL13B CC2D2A CEP290 NPHP1 OFD1
3 craniofacial MP:0005382 9.55 CC2D2A CEP290 OFD1 RPGRIP1L TMEM67
4 renal/urinary system MP:0005367 9.23 AHI1 ARL13B CC2D2A CEP290 NPHP1 OFD1

Drugs & Therapeutics for Joubert Syndrome 8

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 8

Cochrane evidence based reviews: joubert syndrome 8

Genetic Tests for Joubert Syndrome 8

Genetic tests related to Joubert Syndrome 8:

# Genetic test Affiliating Genes
1 Joubert Syndrome 8 29 ARL13B

Anatomical Context for Joubert Syndrome 8

MalaCards organs/tissues related to Joubert Syndrome 8:

40
Eye, Kidney, Liver

Publications for Joubert Syndrome 8

Articles related to Joubert Syndrome 8:

# Title Authors PMID Year
1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 61 56 6
25138100 2015
2
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 56 6
18674751 2008
3
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
4
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
5
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
6
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 56
16541367 2006
7
Joubert Syndrome 6
20301500 2003
8
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 61
26714646 2015
9
Clinical nosologic and genetic aspects of Joubert and related syndromes. 61
10511339 1999

Variations for Joubert Syndrome 8

ClinVar genetic disease variations for Joubert Syndrome 8:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARL13B NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)SNV Pathogenic 217551 rs863225149 3:93714723-93714723 3:93995879-93995879
2 ARL13B NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)SNV Pathogenic 217552 rs758972393 3:93754255-93754255 3:94035411-94035411
3 ARL13B NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)SNV Pathogenic 218107 rs863225430 3:93722629-93722629 3:94003785-94003785
4 ARL13B NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)SNV Pathogenic 1991 rs121912606 3:93722608-93722608 3:94003764-94003764
5 ARL13B NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)SNV Pathogenic 1992 rs121912607 3:93722618-93722618 3:94003774-94003774
6 ARL13B NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)SNV Pathogenic 1993 rs121912608 3:93755507-93755507 3:94036663-94036663
7 ARL13B NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)deletion Pathogenic 578346 rs1560002959 3:93754185-93754188 3:94035341-94035344
8 ARL13B NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)SNV Conflicting interpretations of pathogenicity 634458 rs529580146 3:93754216-93754216 3:94035372-94035372
9 ARL13B NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)SNV Conflicting interpretations of pathogenicity 346913 rs146264035 3:93769677-93769677 3:94050833-94050833
10 ARL13B NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly)SNV Uncertain significance 405194 rs112062713 3:93772081-93772081 3:94053237-94053237
11 ARL13B NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser)SNV Uncertain significance 469567 rs538624288 3:93758809-93758809 3:94039965-94039965
12 ARL13B NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys)SNV Uncertain significance 469566 rs778540135 3:93758749-93758749 3:94039905-94039905
13 ARL13B NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln)SNV Uncertain significance 634456 rs369942016 3:93768298-93768298 3:94049454-94049454
14 ARL13B NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu)SNV Uncertain significance 634457 rs1385061611 3:93768358-93768358 3:94049514-94049514
15 ARL13B NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys)SNV Uncertain significance 581649 rs752848590 3:93755591-93755591 3:94036747-94036747
16 ARL13B NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)duplication Uncertain significance 631931 rs752472169 3:93761882-93761883 3:94043038-94043039
17 ARL13B NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)SNV Uncertain significance 546147 rs142510905 3:93772073-93772073 3:94053229-94053229
18 ARL13B NM_001174150.2(ARL13B):c.501A>C (p.Ala167=)SNV Likely benign 537285 rs774807971 3:93755410-93755410 3:94036566-94036566
19 ARL13B NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)SNV Benign/Likely benign 128452 rs33944211 3:93768268-93768268 3:94049424-94049424
20 ARL13B NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)SNV Benign/Likely benign 128453 rs146396078 3:93714763-93714763 3:93995919-93995919

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 8:

73
# Symbol AA change Variation ID SNP ID
1 ARL13B p.Arg79Gln VAR_054371 rs121912606
2 ARL13B p.Arg200Cys VAR_054372 rs121912608
3 ARL13B p.Tyr86Cys VAR_077496 rs863225430

Expression for Joubert Syndrome 8

Search GEO for disease gene expression data for Joubert Syndrome 8.

Pathways for Joubert Syndrome 8

GO Terms for Joubert Syndrome 8

Cellular components related to Joubert Syndrome 8 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 KATNBL1
2 cytoskeleton GO:0005856 9.97 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 KATNBL1
3 cell projection GO:0042995 9.96 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 IFT22
4 centrosome GO:0005813 9.85 TMEM67 RPGRIP1L OFD1 IFT22 CEP290 AHI1
5 ciliary basal body GO:0036064 9.71 RPGRIP1L OFD1 CEP290 AHI1
6 cell-cell junction GO:0005911 9.67 RPGRIP1L NPHP1 AHI1
7 centriole GO:0005814 9.63 OFD1 CEP290 AHI1
8 photoreceptor connecting cilium GO:0032391 9.61 RPGRIP1L NPHP1 CEP290
9 MKS complex GO:0036038 9.55 TMEM67 TMEM216 CEP290 CC2D2A AHI1
10 non-motile cilium GO:0097730 9.51 ARL13B AHI1
11 ciliary transition zone GO:0035869 9.43 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
12 cilium GO:0005929 9.32 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 IFT22

Biological processes related to Joubert Syndrome 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.7 TMEM67 TMEM216 OFD1 NPHP1 CEP290 CC2D2A
2 non-motile cilium assembly GO:1905515 9.56 TMEM216 RPGRIP1L CC2D2A ARL13B
3 cilium assembly GO:0060271 9.56 TMEM67 TMEM216 RPGRIP1L OFD1 CEP290 CC2D2A
4 determination of left/right symmetry GO:0007368 9.54 RPGRIP1L CC2D2A ARL13B
5 hindbrain development GO:0030902 9.43 CEP290 AHI1
6 left/right axis specification GO:0070986 9.4 ARL13B AHI1
7 neural tube patterning GO:0021532 9.32 RPGRIP1L ARL13B
8 ciliary basal body-plasma membrane docking GO:0097711 9.23 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290

Sources for Joubert Syndrome 8

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
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