JBTS3
MCID: JBR041
MIFTS: 53

Joubert Syndrome 3 (JBTS3)

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

Aliases & Classifications for Joubert Syndrome 3

MalaCards integrated aliases for Joubert Syndrome 3:

Name: Joubert Syndrome 3 57 12 20 73 29 6 44 15 71
Jbts3 57 12 20 73
Joubert Syndrome with Ocular Defect 58 6
Joubert Syndrome with Ocular Anomalies 20
Joubert Syndrome with Retinopathy 58
Joubert Syndrome, Type 3 39
Joubert Syndrome-3 13
Js-O 58

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome with ocular defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
joubert syndrome 3:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Joubert Syndrome 3

UniProtKB/Swiss-Prot : 73 Joubert syndrome 3: 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. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.

MalaCards based summary : Joubert Syndrome 3, also known as jbts3, is related to familial clubfoot with or without associated lower limb anomalies and simpson-golabi-behmel syndrome, type 2, and has symptoms including ataxia An important gene associated with Joubert Syndrome 3 is AHI1 (Abelson Helper Integration Site 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye, brain and retina, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the AHI1 gene on chromosome 6q23.3.

More information from OMIM: 608629 PS213300

Related Diseases for Joubert Syndrome 3

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 familial clubfoot with or without associated lower limb anomalies 10.4 INPP5E CC2D2A
2 simpson-golabi-behmel syndrome, type 2 10.4 OFD1 CEP290
3 orofaciodigital syndrome i 10.4 OFD1 CEP290
4 renal dysplasia, cystic 10.4 INPP5E CEP290
5 orofaciodigital syndrome iv 10.4 TMEM216 OFD1
6 joubert syndrome 26 10.4 KIF7 CEP41
7 retinitis pigmentosa 34 10.4 OFD1 IQCB1
8 leber congenital amaurosis 6 10.3 MKS1 CEP290
9 meckel syndrome, type 7 10.3 TMEM216 MKS1 CC2D2A
10 bardet-biedl syndrome 11 10.3 RPGRIP1L MKS1 CEP290
11 bardet-biedl syndrome 6 10.3 RPGRIP1L MKS1 CEP290
12 cone-rod dystrophy 13 10.3 RPGRIP1L IQCB1
13 retinal ciliopathy 10.3 IQCB1 INPP5E CEP290
14 joubert syndrome 21 10.3 KIF7 CEP41
15 joubert syndrome 14 10.3 TMEM216 RPGRIP1L NPHP1
16 oligohydramnios 10.3 TMEM67 MKS1 CC2D2A
17 nephronophthisis 18 10.3 NPHP1 IQCB1
18 polycystic kidney disease 2 with or without polycystic liver disease 10.3 TMEM67 MKS1 ARL13B
19 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3 INPP5E CC2D2A
20 arima syndrome 10.3 TMEM216 CEP290 CC2D2A
21 bardet-biedl syndrome 13 10.3 MKS1 CEP290
22 alstrom syndrome 10.3 RPGRIP1L IQCB1 CEP290
23 congenital hepatic fibrosis 10.3 TMEM67 RPGRIP1L CC2D2A AHI1
24 encephalocele 10.3 TMEM67 MKS1 CEP290 CC2D2A
25 nephronophthisis 13 10.3 TTC21B NPHP1 IQCB1
26 nephronophthisis 15 10.3 NPHP1 IQCB1
27 retinitis pigmentosa 54 10.3 CCDC120 CC2D2A
28 nephronophthisis 1 10.3 RPGRIP1L NPHP1 MKS1 CC2D2A AHI1
29 kidney disease 10.3 TMEM67 NPHP1 CEP290 CC2D2A AHI1
30 pathologic nystagmus 10.2 TMEM67 MKS1 KIF7 CEP290
31 johanson-blizzard syndrome 10.2 TMEM216 RPGRIP1L CEP290 CC2D2A
32 leber congenital amaurosis 8 10.2 IQCB1 CEP290
33 short-rib thoracic dysplasia 3 with or without polydactyly 10.2 TTC21B CEP120 ARL13B
34 retinal aplasia 10.2 TTC21B NPHP1 IQCB1 CEP290
35 cogan syndrome 10.2 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
36 leber congenital amaurosis 10 10.2 IQCB1 CEP290
37 joubert syndrome 15 10.2 RPGRIP1L NPHP1 KIF7 CEP41 CC2D2A
38 leber congenital amaurosis 3 10.2 IQCB1 CEP290
39 acrocallosal syndrome 10.2 TMEM216 RPGRIP1L NPHP1 KIF7 AHI1
40 nephronophthisis 16 10.2 TMEM67 RPGRIP1L NPHP1 IQCB1 CEP290
41 physical disorder 10.2 TMEM67 OFD1 MKS1 CEP290 ARL13B
42 orofaciodigital syndrome 10.2 TMEM67 TMEM216 TCTN1 OFD1 CEP290
43 polycystic kidney disease 10.2 TMEM67 OFD1 MKS1 INPP5E CEP290 CC2D2A
44 renal-hepatic-pancreatic dysplasia 10.1 OFD1 NPHP1 KIF7 IQCB1 CEP290
45 leber congenital amaurosis 4 10.1 IQCB1 CEP290
46 juvenile nephronophthisis 10.1 TTC21B TMEM67 NPHP1 IQCB1 CEP290
47 nephronophthisis 19 10.1 TMEM67 RPGRIP1L NPHP1 IQCB1 CEP290 AHI1
48 bardet-biedl syndrome 1 10.1 TMEM67 TMEM216 NPHP1 MKS1 KIF7 CEP290
49 retinal degeneration 10.1 TTC21B TMEM67 RPGRIP1L NPHP1 CEP290
50 apraxia 10.1 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A AHI1

Graphical network of the top 20 diseases related to Joubert Syndrome 3:



Diseases related to Joubert Syndrome 3

Symptoms & Phenotypes for Joubert Syndrome 3

Human phenotypes related to Joubert Syndrome 3:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
5 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
6 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
7 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
8 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
9 hypotonia 31 hallmark (90%) HP:0001252
10 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
12 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
13 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
14 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
15 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
18 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
19 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
20 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
21 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
25 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
26 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
27 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
28 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
29 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
30 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
31 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
32 dextrocardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001651
33 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
34 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
35 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
36 retinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000480
37 seizure 31 occasional (7.5%) HP:0001250
38 seizures 58 Occasional (29-5%)
39 muscular hypotonia 58 Very frequent (99-80%)
40 wide nasal bridge 31 HP:0000431
41 visual impairment 31 HP:0000505
42 malformation of the heart and great vessels 58 Occasional (29-5%)
43 abnormal electroretinogram 31 HP:0000512
44 low-set ears 31 HP:0000369
45 epicanthus 31 HP:0000286
46 open mouth 31 HP:0000194
47 nephronophthisis 31 HP:0000090
48 oral cleft 58 Occasional (29-5%)
49 abnormal pattern of respiration 58 Very frequent (99-80%)
50 pigmentary retinopathy 31 HP:0000580

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
nystagmus
retinal dystrophy
oculomotor apraxia
pigmentary retinopathy
more
Head And Neck Ears:
low-set ears

Head And Neck Nose:
broad nasal bridge
anteverted nostrils

Head And Neck Face:
high-rounded eyebrows

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypotonia
delayed motor development
mental retardation
more
Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Genitourinary Kidneys:
end-stage renal disease
nephronophthisis (less common)

Head And Neck Mouth:
triangular-shaped, open mouth

Clinical features from OMIM®:

608629 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 3:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 3:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 AHI1 ARL13B CC2D2A CEP120 CEP290 INPP5E
2 cardiovascular system MP:0005385 10.3 CC2D2A CEP120 CEP290 CEP41 INPP5E KIF7
3 embryo MP:0005380 10.3 ARL13B CC2D2A CEP120 CEP41 INPP5E KIF7
4 growth/size/body region MP:0005378 10.28 AHI1 ARL13B CC2D2A CEP120 CEP290 INPP5E
5 mortality/aging MP:0010768 10.27 AHI1 ARL13B CC2D2A CEP120 CEP290 CEP41
6 nervous system MP:0003631 10.25 AHI1 ARL13B CC2D2A CEP120 CEP290 CEP41
7 craniofacial MP:0005382 10.24 CC2D2A CEP290 INPP5E KIF7 MKS1 OFD1
8 digestive/alimentary MP:0005381 10.13 CC2D2A INPP5E KIF7 MKS1 OFD1 RPGRIP1L
9 limbs/digits/tail MP:0005371 10.1 CC2D2A INPP5E KIF7 MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 10 AHI1 ARL13B CC2D2A CEP290 INPP5E MKS1
11 respiratory system MP:0005388 9.7 ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12 skeleton MP:0005390 9.65 CEP120 CEP290 INPP5E KIF7 MKS1 OFD1
13 vision/eye MP:0005391 9.4 AHI1 ARL13B CC2D2A CEP290 INPP5E KIF7

Drugs & Therapeutics for Joubert Syndrome 3

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 3

Cochrane evidence based reviews: joubert syndrome 3

Genetic Tests for Joubert Syndrome 3

Genetic tests related to Joubert Syndrome 3:

# Genetic test Affiliating Genes
1 Joubert Syndrome 3 29 AHI1

Anatomical Context for Joubert Syndrome 3

MalaCards organs/tissues related to Joubert Syndrome 3:

40
Eye, Brain, Retina, Hypothalamus, Pituitary, Heart, Kidney

Publications for Joubert Syndrome 3

Articles related to Joubert Syndrome 3:

(show all 12)
# Title Authors PMID Year
1
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 61 57 6
15322546 2004
2
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. 57 6
25616960 2015
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 57
21937992 2011
4
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 57 6
16453322 2006
5
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 6 57
16240161 2006
6
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 61 57
15786477 2005
7
Homozygosity mapping of a third Joubert syndrome locus to 6q23. 57 61
15060101 2004
8
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 6
23532844 2013
9
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 57
16155189 2006
10
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 57
15467982 2004
11
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 57
576733 1977
12
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. 61
32335874 2020

Variations for Joubert Syndrome 3

ClinVar genetic disease variations for Joubert Syndrome 3:

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AHI1 NM_001134831.2(AHI1):c.1152-2A>G SNV Pathogenic 217527 rs753085250 6:135777066-135777066 6:135455928-135455928
2 AHI1 NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) SNV Pathogenic 217530 rs863225134 6:135754275-135754275 6:135433137-135433137
3 AHI1 NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) SNV Pathogenic 217532 rs863225135 6:135748382-135748382 6:135427244-135427244
4 AHI1 NM_001134831.2(AHI1):c.1626+1G>A SNV Pathogenic 217535 rs863225137 6:135769427-135769427 6:135448289-135448289
5 AHI1 NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) Deletion Pathogenic 217540 rs863225140 6:135754235-135754244 6:135433097-135433106
6 AHI1 NM_001134831.2(AHI1):c.1614del (p.Val539fs) Deletion Pathogenic 217541 rs863225141 6:135769440-135769440 6:135448302-135448302
7 AHI1 NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) SNV Pathogenic 217531 rs764412921 6:135759632-135759632 6:135438494-135438494
8 AHI1 NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) SNV Pathogenic 217534 rs371637724 6:135769538-135769538 6:135448400-135448400
9 AHI1 NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) SNV Pathogenic 2010 rs121434348 6:135778732-135778732 6:135457594-135457594
10 AHI1 NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) SNV Pathogenic 60535 rs397514726 6:135778731-135778731 6:135457593-135457593
11 AHI1 NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) Deletion Pathogenic 156383 rs587783014 6:135749786-135749792 6:135428648-135428654
12 AHI1 NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) SNV Pathogenic 210113 rs797045223 6:135763771-135763771 6:135442633-135442633
13 AHI1 NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) SNV Pathogenic 217539 rs863225139 6:135752422-135752422 6:135431284-135431284
14 AHI1 NM_001134831.2(AHI1):c.2172del (p.Trp725fs) Deletion Pathogenic 217537 rs755407014 6:135754259-135754259 6:135433121-135433121
15 AHI1 NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) SNV Pathogenic 217542 rs863225142 6:135786965-135786965 6:135465827-135465827
16 AHI1 NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) SNV Pathogenic 217549 rs368788993 6:135748364-135748364 6:135427226-135427226
17 AHI1 NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) SNV Pathogenic 217529 rs863225133 6:135778668-135778668 6:135457530-135457530
18 AHI1 NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) Duplication Pathogenic 217526 rs863225132 6:135763733-135763734 6:135442595-135442596
19 AHI1 NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) SNV Pathogenic 217546 rs863225145 6:135759526-135759526 6:135438388-135438388
20 AHI1 NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) SNV Pathogenic 217523 rs777668842 6:135776949-135776949 6:135455811-135455811
21 AHI1 NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) SNV Pathogenic 217544 rs541041911 6:135759573-135759573 6:135438435-135438435
22 AHI1 NM_001134831.2(AHI1):c.910dup (p.Thr304fs) Duplication Pathogenic 217536 rs753874898 6:135784283-135784284 6:135463145-135463146
23 AHI1 NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) SNV Pathogenic 217538 rs863225138 6:135787039-135787039 6:135465901-135465901
24 AHI1 NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) Duplication Pathogenic 217533 rs863225136 6:135754331-135754332 6:135433193-135433194
25 AHI1 NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) SNV Pathogenic 217528 rs772989270 6:135759537-135759537 6:135438399-135438399
26 AHI1 NM_001134831.2(AHI1):c.2036+1G>T SNV Pathogenic 217522 rs776093293 6:135759512-135759512 6:135438374-135438374
27 AHI1 NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) SNV Pathogenic 217543 rs863225143 6:135776956-135776956 6:135455818-135455818
28 AHI1 NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) SNV Pathogenic 217525 rs372659908 6:135754219-135754219 6:135433081-135433081
29 AHI1 NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC Insertion Pathogenic 217550 rs863225148 6:135769423-135769424 6:135448285-135448286
30 AHI1 NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) SNV Pathogenic 217524 rs863225131 6:135749895-135749895 6:135428757-135428757
31 AHI1 NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) SNV Pathogenic 217547 rs863225146 6:135752358-135752358 6:135431220-135431220
32 AHI1 NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) SNV Pathogenic 217545 rs863225144 6:135754258-135754258 6:135433120-135433120
33 AHI1 NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) SNV Pathogenic 30761 rs387907003 6:135769570-135769570 6:135448432-135448432
34 AHI1 NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) SNV Pathogenic 30760 rs201391050 6:135778798-135778798 6:135457660-135457660
35 AHI1 NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) SNV Pathogenic 2014 rs267606641 6:135768160-135768160 6:135447022-135447022
36 AHI1 NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) SNV Pathogenic 2012 rs121434350 6:135776888-135776888 6:135455750-135455750
37 AHI1 NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 2011 rs121434349 6:135776913-135776913 6:135455775-135455775
38 AHI1 NM_001134831.2(AHI1):c.2623+1G>T SNV Pathogenic 638504 rs751823180 6:135749766-135749766 6:135428628-135428628
39 AHI1 NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) SNV Pathogenic 30760 rs201391050 6:135778798-135778798 6:135457660-135457660
40 AHI1 NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) Deletion Pathogenic 916617 6:135768164-135768164 6:135447026-135447026
41 AHI1 NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs) Insertion Pathogenic 916618 6:135776885-135776886 6:135455747-135455748
42 AHI1 NM_001134831.2(AHI1):c.1326del (p.Val443fs) Deletion Pathogenic 917913 6:135776890-135776890 6:135455752-135455752
43 AHI1 NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) SNV Pathogenic 858292 rs1355690902 6:135748398-135748398 6:135427260-135427260
44 AHI1 NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) SNV Pathogenic 984718 6:135763804-135763804 6:135442666-135442666
45 AHI1 NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) SNV Pathogenic 217548 rs863225147 6:135759552-135759552 6:135438414-135438414
46 AHI1 NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) Insertion Pathogenic 2016 rs387906270 6:135752350-135752351 6:135431212-135431213
47 AHI1 NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) SNV Pathogenic 2015 rs121434351 6:135754263-135754263 6:135433125-135433125
48 AHI1 NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) SNV Pathogenic/Likely pathogenic 2015 rs121434351 6:135754263-135754263 6:135433125-135433125
49 AHI1 NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) SNV Pathogenic/Likely pathogenic 156382 rs587783013 6:135754257-135754257 6:135433119-135433119
50 AHI1 NM_001134831.2(AHI1):c.1205del (p.Pro402fs) Deletion Likely pathogenic 202167 rs794729195 6:135777011-135777011 6:135455873-135455873

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 AHI1 p.Val443Asp VAR_023391 rs121434350
2 AHI1 p.Arg723Gln VAR_037894 rs121434351
3 AHI1 p.Arg351Leu VAR_071194 rs397514726
4 AHI1 p.Thr671Ile VAR_076820 rs772989270
5 AHI1 p.Asp719Gly VAR_076821 rs863225134
6 AHI1 p.His896Arg VAR_076822 rs863225135

Expression for Joubert Syndrome 3

Search GEO for disease gene expression data for Joubert Syndrome 3.

Pathways for Joubert Syndrome 3

GO Terms for Joubert Syndrome 3

Cellular components related to Joubert Syndrome 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 SOS1
2 cytosol GO:0005829 10.34 TMEM216 TCTN1 SOS1 RPGRIP1L OFD1 NPHP1
3 centrosome GO:0005813 10.09 TMEM67 RPGRIP1L OFD1 MKS1 IQCB1 CEP41
4 cilium GO:0005929 10.03 TTC21B TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1
5 microtubule organizing center GO:0005815 10.02 RPGRIP1L OFD1 MKS1 IQCB1 CEP41 CEP290
6 centriole GO:0005814 9.97 OFD1 MKS1 IQCB1 CEP41 CEP290 CEP120
7 ciliary basal body GO:0036064 9.95 RPGRIP1L OFD1 MKS1 KIF7 CEP41 CEP290
8 MKS complex GO:0036038 9.92 TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
9 cell projection GO:0042995 9.89 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
10 ciliary transition zone GO:0035869 9.86 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L MKS1
11 photoreceptor connecting cilium GO:0032391 9.8 RPGRIP1L NPHP1 IQCB1 CEP290
12 motile cilium GO:0031514 9.72 OFD1 NPHP1 ARL13B
13 axoneme GO:0005930 9.71 RPGRIP1L INPP5E ARL13B
14 ciliary membrane GO:0060170 9.69 TMEM67 TCTN2 ARL13B
15 cytoskeleton GO:0005856 9.58 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L

Biological processes related to Joubert Syndrome 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.93 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 NPHP1
2 ciliary basal body-plasma membrane docking GO:0097711 9.77 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
3 determination of left/right symmetry GO:0007368 9.73 RPGRIP1L MKS1 CC2D2A ARL13B
4 G2/M transition of mitotic cell cycle GO:0000086 9.72 OFD1 CEP41 CEP290
5 smoothened signaling pathway GO:0007224 9.71 TTC21B TCTN2 CC2D2A ARL13B
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.65 OFD1 CEP41 CEP290
7 non-motile cilium assembly GO:1905515 9.65 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
8 regulation of smoothened signaling pathway GO:0008589 9.62 TTC21B TCTN1 RPGRIP1L MKS1
9 motile cilium assembly GO:0044458 9.56 MKS1 CC2D2A
10 hindbrain development GO:0030902 9.54 CEP290 AHI1
11 protein localization to ciliary transition zone GO:1904491 9.54 TCTN2 TCTN1 CC2D2A
12 head development GO:0060322 9.52 RPGRIP1L MKS1
13 embryonic brain development GO:1990403 9.51 MKS1 CC2D2A
14 left/right axis specification GO:0070986 9.49 ARL13B AHI1
15 neural tube patterning GO:0021532 9.46 RPGRIP1L ARL13B
16 cilium assembly GO:0060271 9.44 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1

Sources for Joubert Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....