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 15 and retinal aplasia, 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, and related phenotypes are occipital encephalocele and intellectual disability

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:

(showing 84, show less)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 15 10.2 RPGRIP1L NPHP1
2 retinal aplasia 10.2 NPHP1 CEP290
3 cerebellar malformation 10.2 TMEM67 KATNIP
4 hereditary retinal dystrophy 10.1 DCAF8 CEP290
5 oculomotor apraxia 10.1 NPHP1 ARL13B AHI1
6 encephalocele 10.1 TMEM67 CEP290 CC2D2A
7 orofaciodigital syndrome v 10.0 TCTN1 OFD1
8 cerebellar hypoplasia 10.0 TMEM67 RPGRIP1L CC2D2A
9 ciliopathy 10.0 TMEM67 RPGRIP1L
10 asphyxiating thoracic dystrophy 10.0 RPGRIP1L CEP290 ARL13B
11 orofaciodigital syndrome i 10.0 OFD1 CEP290
12 bardet-biedl syndrome 6 10.0 RPGRIP1L CEP290
13 cogan syndrome 10.0 NPHP1 CEP290 AHI1
14 pathologic nystagmus 10.0 TMEM67 CEP290 AHI1
15 orofaciodigital syndrome iv 10.0 TMEM216 OFD1
16 simpson-golabi-behmel syndrome, type 2 10.0 OFD1 CEP290
17 arima syndrome 10.0 TMEM216 CEP290 CC2D2A
18 juvenile nephronophthisis 9.9 NPHP3 NPHP1
19 retinitis pigmentosa 28 9.9 OFD1 CEP290
20 congenital hepatic fibrosis 9.9 TMEM67 RPGRIP1L CC2D2A AHI1
21 nephronophthisis 1 9.9 NPHP3 NPHP1 AHI1
22 nephronophthisis 18 9.9 NPHP3 NPHP1
23 renal dysplasia, cystic 9.9 NPHP3 CEP290
24 nephronophthisis 15 9.9 NPHP3 NPHP1
25 kidney disease 9.9 TMEM67 NPHP1 CEP290 AHI1
26 polycystic kidney disease 2 with or without polycystic liver disease 9.9 TMEM67 ARL13B
27 meckel syndrome, type 7 9.8 TMEM216 NPHP3 CC2D2A
28 polycystic kidney disease 9.8 TMEM67 OFD1 NPHP3
29 nephronophthisis 13 9.7 NPHP3 NPHP1 CEP290
30 nephronophthisis 12 9.7 NPHP3 NPHP1 CEP290
31 physical disorder 9.7 TMEM67 OFD1 CEP290 ARL13B
32 retinitis pigmentosa 2 9.7 CEP290 ARL13B ARL13A
33 joubert syndrome 24 9.6 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
34 alstrom syndrome 9.5 RPGRIP1L NPHP3 NPHP1 CEP290
35 bardet-biedl syndrome 3 9.5 CEP290 ARL13A
36 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216 TCTN1 OFD1
37 johanson-blizzard syndrome 9.4 TMEM216 RPGRIP1L KATNIP CEP290 CC2D2A
38 renal-hepatic-pancreatic dysplasia 9.4 OFD1 NPHP3 NPHP1 CEP290
39 ellis-van creveld syndrome 9.4 TMEM216 RPGRIP1L OFD1 CEP290 ARL13B
40 meckel syndrome, type 8 9.4 TMEM67 TMEM216 RPGRIP1L NPHP3 CC2D2A
41 nephronophthisis 16 9.3 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
42 acrocallosal syndrome 9.3 TMEM216 RPGRIP1L OFD1 KATNIP AHI1
43 retinal degeneration 9.3 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
44 nephronophthisis 14 9.2 TMEM67 TCTN1 RPGRIP1L NPHP1 CEP290 CC2D2A
45 meckel syndrome, type 2 9.2 TMEM67 TMEM216 RPGRIP1L NPHP1 DCAF8 CEP290
46 nephronophthisis 7 9.1 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290 CC2D2A
47 joubert syndrome 6 9.1 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
48 nephronophthisis 19 9.1 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290 AHI1
49 bardet-biedl syndrome 14 9.1 TMEM67 TMEM216 RPGRIP1L NPHP3 CEP290 CC2D2A
50 orofaciodigital syndrome 9.0 TMEM67 TMEM216 TCTN1 OFD1 NPHP1 CEP290
51 nephronophthisis 11 8.9 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 CEP290
52 apraxia 8.9 TMEM67 TMEM216 TCTN1 RPGRIP1L NPHP1 CEP290
53 cranioectodermal dysplasia 1 8.9 TMEM67 RPGRIP1L OFD1 NPHP1 CEP290 CC2D2A
54 joubert syndrome 10 8.8 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CC2D2A
55 meckel syndrome, type 5 8.8 TMEM67 TMEM216 TCTN1 RPGRIP1L NPHP1 DCAF8
56 meckel syndrome, type 4 8.7 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 CEP290
57 nephronophthisis 9 8.7 TMEM67 TMEM216 RPGRIP1L NPHP3 NPHP1 DCAF8
58 joubert syndrome 9 8.5 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
59 joubert syndrome 7 8.5 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
60 joubert syndrome 5 8.5 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
61 joubert syndrome 2 8.5 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
62 meckel syndrome, type 6 8.3 TMEM67 TMEM216 TCTN1 RPGRIP1L NPHP3 NPHP1
63 joubert syndrome 13 8.1 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
64 joubert syndrome 4 8.1 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
65 cystic kidney disease 8.1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1
66 polycystic kidney disease 4 with or without polycystic liver disease 8.1 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1
67 short-rib thoracic dysplasia 1 with or without polydactyly 7.8 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
68 leber plus disease 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
69 visceral heterotaxy 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
70 kartagener syndrome 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
71 joubert syndrome 3 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
72 meckel syndrome, type 3 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
73 senior-loken syndrome 1 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
74 coach syndrome 7.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
75 orofaciodigital syndrome vi 7.5 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
76 primary ciliary dyskinesia 7.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1
77 nephronophthisis 2 7.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1
78 coloboma of macula 7.3 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
79 retinitis pigmentosa 7.2 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1
80 nephronophthisis 7.1 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
81 bardet-biedl syndrome 7.0 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
82 meckel syndrome, type 1 7.0 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
83 joubert syndrome 1 6.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
84 fundus dystrophy 6.7 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3

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

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 (showing 7, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 AHI1 ARL13B CC2D2A CEP290 NPHP1 NPHP3
2 nervous system MP:0003631 9.9 AHI1 ARL13B CC2D2A CEP290 KATNIP NPHP1
3 embryo MP:0005380 9.87 ARL13B CC2D2A NPHP3 OFD1 RPGRIP1L TCTN1
4 craniofacial MP:0005382 9.85 CC2D2A CEP290 NPHP3 OFD1 RPGRIP1L TMEM67
5 limbs/digits/tail MP:0005371 9.65 CC2D2A OFD1 RPGRIP1L TCTN1 TMEM67
6 renal/urinary system MP:0005367 9.61 AHI1 ARL13B CC2D2A CEP290 NPHP1 NPHP3
7 vision/eye MP:0005391 9.17 AHI1 ARL13B CC2D2A CEP290 KATNIP NPHP1

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

Publications for Joubert Syndrome 8

Articles related to Joubert Syndrome 8:

(showing 9, show less)
# Title Authors PMID Year
1
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 56 61 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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARL13B NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)deletion Pathogenic 578346 rs1560002959 3:93754185-93754188 3:94035341-94035344
2 ARL13B NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)SNV Pathogenic 1991 rs121912606 3:93722608-93722608 3:94003764-94003764
3 ARL13B NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)SNV Pathogenic 1992 rs121912607 3:93722618-93722618 3:94003774-94003774
4 ARL13B NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)SNV Pathogenic 1993 rs121912608 3:93755507-93755507 3:94036663-94036663
5 ARL13B NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)SNV Pathogenic 217551 rs863225149 3:93714723-93714723 3:93995879-93995879
6 ARL13B NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)SNV Pathogenic 217552 rs758972393 3:93754255-93754255 3:94035411-94035411
7 ARL13B NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)SNV Pathogenic 218107 rs863225430 3:93722629-93722629 3:94003785-94003785
8 ARL13B NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)SNV Conflicting interpretations of pathogenicity 287670 rs139997243 3:93761891-93761891 3:94043047-94043047
9 ARL13B NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)SNV Conflicting interpretations of pathogenicity 634458 rs529580146 3:93754216-93754216 3:94035372-94035372
10 ARL13B NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)SNV Conflicting interpretations of pathogenicity 346913 rs146264035 3:93769677-93769677 3:94050833-94050833
11 ARL13B NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu)SNV Conflicting interpretations of pathogenicity 346912 rs139063474 3:93768270-93768270 3:94049426-94049426
12 ARL13B NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)SNV Uncertain significance 546147 rs142510905 3:93772073-93772073 3:94053229-94053229
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.1261A>G (p.Ser421Gly)SNV Uncertain significance 405194 rs112062713 3:93772081-93772081 3:94053237-94053237
18 ARL13B NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr)SNV Uncertain significance 419776 rs139780924 3:93714764-93714764 3:93995920-93995920
19 ARL13B NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser)SNV Uncertain significance 469567 rs538624288 3:93758809-93758809 3:94039965-94039965
20 ARL13B NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys)SNV Uncertain significance 469566 rs778540135 3:93758749-93758749 3:94039905-94039905
21 ARL13B NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)SNV Uncertain significance 346908 rs375770842 3:93699297-93699297 3:93980453-93980453
22 ARL13B NC_000003.12:g.(?_93874245)_(94015269_?)dupduplication Uncertain significance 831583 3:93593089-93734113
23 ARL13B NC_000003.12:g.(?_93973674)_(94126490_?)dupduplication Uncertain significance 833008 3:93692518-93845334
24 ARL13B NC_000003.12:g.(?_94035331)_(94061511_?)dupduplication Uncertain significance 832017 3:93754175-93780355
25 ARL13B NM_001174150.2(ARL13B):c.22T>G (p.Cys8Gly)SNV Uncertain significance 856485 3:93699289-93699289 3:93980445-93980445
26 ARL13B NM_001174150.2(ARL13B):c.233T>C (p.Ile78Thr)SNV Uncertain significance 853231 3:93722605-93722605 3:94003761-94003761
27 ARL13B NM_001174150.2(ARL13B):c.506C>T (p.Ser169Leu)SNV Uncertain significance 862035 3:93755415-93755415 3:94036571-94036571
28 ARL13B NM_001174150.2(ARL13B):c.614C>A (p.Thr205Lys)SNV Uncertain significance 837113 3:93755523-93755523 3:94036679-94036679
29 ARL13B NM_001174150.2(ARL13B):c.938A>C (p.Glu313Ala)SNV Uncertain significance 858066 3:93761998-93761998 3:94043154-94043154
30 ARL13B NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val)SNV Uncertain significance 839064 3:93769719-93769719 3:94050875-94050875
31 ARL13B NM_001174150.2(ARL13B):c.1209T>C (p.Asn403=)SNV Uncertain significance 845256 3:93769735-93769735 3:94050891-94050891
32 ARL13B NM_001174150.2(ARL13B):c.1025-3T>ASNV Uncertain significance 860194 3:93768247-93768247 3:94049403-94049403
33 ARL13B NM_001174150.2(ARL13B):c.1211-10C>ASNV Uncertain significance 845881 3:93772021-93772021 3:94053177-94053177
34 ARL13B NM_001174150.2(ARL13B):c.501A>C (p.Ala167=)SNV Likely benign 537285 rs774807971 3:93755410-93755410 3:94036566-94036566
35 ARL13B NM_001174150.2(ARL13B):c.720C>T (p.Leu240=)SNV Likely benign 413236 rs752196300 3:93758754-93758754 3:94039910-94039910
36 ARL13B NM_001174150.2(ARL13B):c.59+8G>ASNV Likely benign 696084 3:93699334-93699334 3:93980490-93980490
37 ARL13B NM_001174150.2(ARL13B):c.120A>G (p.Gly40=)SNV Likely benign 698389 3:93714778-93714778 3:93995934-93995934
38 ARL13B NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=)SNV Likely benign 757298 3:93768359-93768359 3:94049515-94049515
39 ARL13B NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=)SNV Likely benign 757299 3:93768362-93768362 3:94049518-94049518
40 ARL13B NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg)SNV Likely benign 798227 3:93762003-93762003 3:94043159-94043159
41 ARL13B NM_001174150.2(ARL13B):c.130+7T>CSNV Likely benign 391313 rs200527262 3:93714795-93714795 3:93995951-93995951
42 ARL13B NM_001174150.2(ARL13B):c.690-5G>ASNV Likely benign 379741 rs373173586 3:93758719-93758719 3:94039875-94039875
43 ARL13B NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)SNV Benign/Likely benign 128452 rs33944211 3:93768268-93768268 3:94049424-94049424
44 ARL13B NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)SNV Benign/Likely benign 128453 rs146396078 3:93714763-93714763 3:93995919-93995919
45 ARL13B NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)SNV Benign/Likely benign 199197 rs11554412 3:93769712-93769712 3:94050868-94050868

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

73 (showing 3, show less)
# 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:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
2 cytosol GO:0005829 10.21 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3 NPHP1
3 cytoskeleton GO:0005856 10.02 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
4 cell projection GO:0042995 9.93 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3
5 centrosome GO:0005813 9.89 TMEM67 RPGRIP1L OFD1 CEP290 AHI1
6 motile cilium GO:0031514 9.73 OFD1 NPHP1 ARL13B ARL13A
7 ciliary transition zone GO:0035869 9.73 TMEM67 TMEM216 TCTN1 RPGRIP1L CEP290 CC2D2A
8 cell-cell junction GO:0005911 9.72 RPGRIP1L NPHP1 AHI1
9 ciliary basal body GO:0036064 9.71 RPGRIP1L OFD1 CEP290 AHI1
10 centriole GO:0005814 9.7 OFD1 CEP290 AHI1
11 ciliary membrane GO:0060170 9.65 TMEM67 ARL13B ARL13A
12 photoreceptor connecting cilium GO:0032391 9.63 RPGRIP1L NPHP1 CEP290
13 non-motile cilium GO:0097730 9.54 ARL13B ARL13A AHI1
14 MKS complex GO:0036038 9.43 TMEM67 TMEM216 TCTN1 CEP290 CC2D2A AHI1
15 cilium GO:0005929 9.36 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3 NPHP1

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

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 TMEM67 TMEM216 TCTN1 OFD1 NPHP1 CEP290
2 non-motile cilium assembly GO:1905515 9.65 TMEM216 RPGRIP1L CC2D2A ARL13B ARL13A
3 determination of left/right symmetry GO:0007368 9.62 RPGRIP1L NPHP3 CC2D2A ARL13B
4 ciliary basal body-plasma membrane docking GO:0097711 9.61 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
5 heart looping GO:0001947 9.58 NPHP3 ARL13B AHI1
6 telencephalon development GO:0021537 9.55 TCTN1 RPGRIP1L
7 regulation of smoothened signaling pathway GO:0008589 9.54 TCTN1 RPGRIP1L
8 axoneme assembly GO:0035082 9.52 OFD1 CC2D2A
9 hindbrain development GO:0030902 9.51 CEP290 AHI1
10 left/right axis specification GO:0070986 9.49 ARL13B AHI1
11 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.48 OFD1 NPHP3
12 neural tube patterning GO:0021532 9.46 RPGRIP1L ARL13B
13 protein localization to ciliary transition zone GO:1904491 9.43 TCTN1 CC2D2A
14 receptor localization to non-motile cilium GO:0097500 9.37 ARL13B ARL13A
15 cilium assembly GO:0060271 9.32 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3

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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