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 56 12 52 73 29 6 43 15 71
Jbts3 56 12 52 73
Joubert Syndrome with Ocular Defect 58 6
Joubert Syndrome with Ocular Anomalies 52
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:

56
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 orofaciodigital syndrome v and retinal aplasia, 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 global developmental delay

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

Diseases related to Joubert Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome v 10.6 TCTN1 OFD1
2 retinal aplasia 10.5 NPHP1 CEP290
3 retinal ciliopathy 10.5 INPP5E CEP290
4 joubert syndrome 21 10.5 KIF7 CEP41
5 orofaciodigital syndrome i 10.5 OFD1 CEP290
6 bardet-biedl syndrome 1 10.5 TMEM216 NPHP1 KIF7
7 joubert syndrome 26 10.5 KIF7 CEP41
8 orofaciodigital syndrome iv 10.5 TMEM216 OFD1
9 joubert syndrome 15 10.4 RPGRIP1L NPHP1 CEP41
10 bardet-biedl syndrome 6 10.4 RPGRIP1L MKS1 CEP290
11 arima syndrome 10.4 TMEM216 CEP290 CC2D2A
12 oculomotor apraxia 10.4 NPHP1 ARL13B AHI1
13 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.4 INPP5E CC2D2A
14 oligohydramnios 10.4 TMEM67 MKS1 CC2D2A
15 polycystic kidney disease 2 with or without polycystic liver disease 10.4 TMEM67 MKS1 ARL13B
16 simpson-golabi-behmel syndrome, type 2 10.4 OFD1 CEP290
17 nephronophthisis-like nephropathy 1 10.4 TTC21B NPHP1
18 leber congenital amaurosis 6 10.4 MKS1 CEP290
19 juvenile nephronophthisis 10.4 NPHP3 NPHP1
20 renal dysplasia, cystic 10.4 NPHP3 INPP5E CEP290
21 encephalocele 10.4 TMEM67 MKS1 CEP290 CC2D2A
22 congenital hepatic fibrosis 10.4 TMEM67 RPGRIP1L CC2D2A AHI1
23 meckel syndrome, type 7 10.4 TMEM216 NPHP3 CC2D2A
24 nephronophthisis 1 10.3 NPHP3 NPHP1 APPL1 AHI1
25 cogan syndrome 10.3 NPHP1 CEP290 APPL1 AHI1
26 cerebellar hypoplasia 10.3 TMEM67 RPGRIP1L CC2D2A
27 nephronophthisis 18 10.3 TTC21B NPHP3 NPHP1
28 johanson-blizzard syndrome 10.3 TMEM216 RPGRIP1L CEP290 CC2D2A
29 retinitis pigmentosa 54 10.3 DZANK1 CC2D2A
30 bardet-biedl syndrome 13 10.3 MKS1 CEP290
31 alstrom syndrome 10.3 RPGRIP1L NPHP3 NPHP1 CEP290
32 infantile nephronophthisis 10.3 TTC21B NPHP3
33 ciliopathy 10.3 TTC21B TMEM67 RPGRIP1L KIF7
34 nephronophthisis 15 10.2 NPHP3 NPHP1
35 nephronophthisis 13 10.2 TTC21B NPHP3 NPHP1 CEP290
36 pathologic nystagmus 10.2 TMEM67 MKS1 KIF7 CEP290 AHI1
37 physical disorder 10.2 TMEM67 OFD1 MKS1 CEP290 ARL13B
38 acrocallosal syndrome 10.2 TMEM216 RPGRIP1L OFD1 KIF7 AHI1
39 bardet-biedl syndrome 11 10.2 MKS1 CEP290
40 short-rib thoracic dysplasia 3 with or without polydactyly 10.2 TTC21B NPHP3 CEP120 ARL13B
41 asphyxiating thoracic dystrophy 10.2 TTC21B RPGRIP1L CEP290 CEP120 ARL13B
42 nephronophthisis 12 10.2 TTC21B NPHP3 NPHP1 CEP41 CEP290
43 renal-hepatic-pancreatic dysplasia 10.2 OFD1 NPHP3 NPHP1 KIF7 CEP290
44 joubert syndrome 24 10.1 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
45 nephronophthisis 19 10.1 TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290 AHI1
46 nephronophthisis 16 10.1 TMEM67 RPGRIP1L NPHP3 NPHP1 MKS1 CEP290
47 polydactyly 10.1 TTC21B MKS1 KIF7 INPP5E CEP290 CEP120
48 meckel syndrome, type 8 10.0 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP3 CC2D2A
49 orofaciodigital syndrome 10.0 TMEM67 TMEM216 TCTN1 OFD1 NPHP1 MKS1
50 retinitis pigmentosa 28 10.0 OFD1 CEP290

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 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
6 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
7 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
8 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
9 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
14 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
19 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
20 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
24 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
25 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
26 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
29 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
30 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
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 wide nasal bridge 31 HP:0000431
39 seizures 58 Occasional (29-5%)
40 visual impairment 31 HP:0000505
41 malformation of the heart and great vessels 58 Occasional (29-5%)
42 abnormal electroretinogram 31 HP:0000512
43 abnormal pattern of respiration 58 Very frequent (99-80%)
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 pigmentary retinopathy 31 HP:0000580
50 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypotonia
delayed motor development
mental retardation
more
Head And Neck Ears:
low-set ears

Head And Neck Nose:
broad nasal bridge
anteverted nostrils

Head And Neck Face:
high-rounded eyebrows

Head And Neck Eyes:
nystagmus
ptosis
retinal dystrophy
oculomotor apraxia
pigmentary retinopathy
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

UMLS symptoms related to Joubert Syndrome 3:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 3:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 AHI1 APPL1 ARL13B CC2D2A CEP120 CEP290
2 growth/size/body region MP:0005378 10.31 AHI1 APPL1 ARL13B CC2D2A CEP120 CEP290
3 cardiovascular system MP:0005385 10.3 APPL1 CC2D2A CEP120 CEP290 CEP41 KIF7
4 embryo MP:0005380 10.3 ARL13B CC2D2A CEP120 CEP41 INPP5E KIF7
5 mortality/aging MP:0010768 10.3 AHI1 APPL1 ARL13B CC2D2A CEP120 CEP290
6 nervous system MP:0003631 10.25 AHI1 ARL13B CC2D2A CEP120 CEP290 CEP41
7 craniofacial MP:0005382 10.24 CC2D2A CEP290 INPP5E KIF7 MKS1 NPHP3
8 limbs/digits/tail MP:0005371 10.1 CC2D2A INPP5E KIF7 MKS1 OFD1 RPGRIP1L
9 digestive/alimentary MP:0005381 10.08 CC2D2A INPP5E KIF7 MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 10.03 AHI1 ARL13B CC2D2A CEP290 INPP5E MKS1
11 respiratory system MP:0005388 9.7 ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12 skeleton MP:0005390 9.61 CEP290 INPP5E KIF7 MKS1 NPHP3 OFD1
13 vision/eye MP:0005391 9.36 AHI1 ARL13B CC2D2A CEP290 DZANK1 INPP5E

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, Heart, Kidney, Hypothalamus, Pituitary

Publications for Joubert Syndrome 3

Articles related to Joubert Syndrome 3:

(show all 16)
# Title Authors PMID Year
1
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 56 6 61
15322546 2004
2
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. 6 56
25616960 2015
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
4
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 6 56
16453322 2006
5
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 56 6
16240161 2006
6
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 56 61
15786477 2005
7
Homozygosity mapping of a third Joubert syndrome locus to 6q23. 61 56
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
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
10
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
11
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
12
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 56
16155189 2006
13
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 56
15467982 2004
14
Joubert Syndrome 6
20301500 2003
15
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 56
576733 1977
16
[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 166) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AHI1 NM_001134831.2(AHI1):c.2623+1G>TSNV Pathogenic 638504 6:135749766-135749766 6:135428628-135428628
2 AHI1 NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer)deletion Pathogenic 916617 6:135768164-135768164 6:135447026-135447026
3 AHI1 NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)insertion Pathogenic 916618 6:135776885-135776886 6:135455747-135455748
4 AHI1 NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)insertion Pathogenic 2016 rs387906270 6:135752350-135752351 6:135431212-135431213
5 AHI1 NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)SNV Pathogenic 2010 rs121434348 6:135778732-135778732 6:135457594-135457594
6 AHI1 NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 2011 rs121434349 6:135776913-135776913 6:135455775-135455775
7 AHI1 NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)SNV Pathogenic 30760 rs201391050 6:135778798-135778798 6:135457660-135457660
8 AHI1 NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)SNV Pathogenic 30761 rs387907003 6:135769570-135769570 6:135448432-135448432
9 AHI1 NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)SNV Pathogenic 60535 rs397514726 6:135778731-135778731 6:135457593-135457593
10 AHI1 NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)SNV Pathogenic 2014 rs267606641 6:135768160-135768160 6:135447022-135447022
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.2705T>A (p.Val902Asp)SNV Pathogenic 217549 rs368788993 6:135748364-135748364 6:135427226-135427226
13 AHI1 NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)SNV Pathogenic 217532 rs863225135 6:135748382-135748382 6:135427244-135427244
14 AHI1 NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)SNV Pathogenic 217524 rs863225131 6:135749895-135749895 6:135428757-135428757
15 AHI1 NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)SNV Pathogenic 217547 rs863225146 6:135752358-135752358 6:135431220-135431220
16 AHI1 NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)SNV Pathogenic 217539 rs863225139 6:135752422-135752422 6:135431284-135431284
17 AHI1 NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)SNV Pathogenic 217525 rs372659908 6:135754219-135754219 6:135433081-135433081
18 AHI1 NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)deletion Pathogenic 217540 rs863225140 6:135754235-135754244 6:135433097-135433106
19 AHI1 NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)SNV Pathogenic 217544 rs541041911 6:135759573-135759573 6:135438435-135438435
20 AHI1 NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)SNV Pathogenic 217531 rs764412921 6:135759632-135759632 6:135438494-135438494
21 AHI1 NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)duplication Pathogenic 217526 rs863225132 6:135763733-135763734 6:135442595-135442596
22 AHI1 NM_001134831.2(AHI1):c.1626+4_1626+5insTTACinsertion Pathogenic 217550 rs863225148 6:135769423-135769424 6:135448285-135448286
23 AHI1 NM_001134831.2(AHI1):c.1626+1G>ASNV Pathogenic 217535 rs863225137 6:135769427-135769427 6:135448289-135448289
24 AHI1 NM_001134831.2(AHI1):c.1614del (p.Val539fs)deletion Pathogenic 217541 rs863225141 6:135769440-135769440 6:135448302-135448302
25 AHI1 NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)SNV Pathogenic 217534 rs371637724 6:135769538-135769538 6:135448400-135448400
26 AHI1 NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)SNV Pathogenic 217523 rs777668842 6:135776949-135776949 6:135455811-135455811
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.1152-2A>GSNV Pathogenic 217527 rs753085250 6:135777066-135777066 6:135455928-135455928
29 AHI1 NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)SNV Pathogenic 217529 rs863225133 6:135778668-135778668 6:135457530-135457530
30 AHI1 NM_001134831.2(AHI1):c.910dup (p.Thr304fs)duplication Pathogenic 217536 rs753874898 6:135784283-135784284 6:135463145-135463146
31 AHI1 NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)SNV Pathogenic 217542 rs863225142 6:135786965-135786965 6:135465827-135465827
32 AHI1 NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)SNV Pathogenic 217538 rs863225138 6:135787039-135787039 6:135465901-135465901
33 AHI1 NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)SNV Pathogenic 210113 rs797045223 6:135763771-135763771 6:135442633-135442633
34 AHI1 NM_001134831.2(AHI1):c.2172del (p.Trp725fs)deletion Pathogenic 217537 rs755407014 6:135754259-135754259 6:135433121-135433121
35 AHI1 NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)duplication Pathogenic 217533 rs863225136 6:135754331-135754332 6:135433193-135433194
36 AHI1 NM_001134831.2(AHI1):c.2036+1G>TSNV Pathogenic 217522 rs776093293 6:135759512-135759512 6:135438374-135438374
37 AHI1 NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)SNV Pathogenic 217546 rs863225145 6:135759526-135759526 6:135438388-135438388
38 AHI1 NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)SNV Pathogenic 217528 rs772989270 6:135759537-135759537 6:135438399-135438399
39 AHI1 NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)SNV Pathogenic/Likely pathogenic 217530 rs863225134 6:135754275-135754275 6:135433137-135433137
40 AHI1 NM_001134831.2(AHI1):c.2988del (p.Val997fs)deletion Pathogenic/Likely pathogenic 280290 rs755246809 6:135726089-135726089 6:135404951-135404951
41 AHI1 NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)SNV Pathogenic/Likely pathogenic 156382 rs587783013 6:135754257-135754257 6:135433119-135433119
42 AHI1 NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)SNV Pathogenic/Likely pathogenic 2015 rs121434351 6:135754263-135754263 6:135433125-135433125
43 AHI1 NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)SNV Pathogenic/Likely pathogenic 2012 rs121434350 6:135776888-135776888 6:135455750-135455750
44 AHI1 NM_001134831.2(AHI1):c.1205del (p.Pro402fs)deletion Likely pathogenic 202167 rs794729195 6:135777011-135777011 6:135455873-135455873
45 AHI1 NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)SNV Likely pathogenic 210114 rs797045224 6:135754344-135754344 6:135433206-135433206
46 AHI1 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)SNV Conflicting interpretations of pathogenicity 198882 rs200927282 6:135778750-135778750 6:135457612-135457612
47 AHI1 NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)SNV Conflicting interpretations of pathogenicity 194870 rs41288017 6:135749885-135749885 6:135428747-135428747
48 AHI1 NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)SNV Conflicting interpretations of pathogenicity 195518 rs41288013 6:135732649-135732649 6:135411511-135411511
49 AHI1 NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)SNV Conflicting interpretations of pathogenicity 217545 rs863225144 6:135754258-135754258 6:135433120-135433120
50 AHI1 NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)SNV Conflicting interpretations of pathogenicity 284422 rs139944375 6:135778797-135778797 6:135457659-135457659

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 10.39 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 cytosol GO:0005829 10.32 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP3 NPHP1
3 centrosome GO:0005813 10.03 TMEM67 RPGRIP1L OFD1 MKS1 CEP41 CEP290
4 cilium GO:0005929 10.03 TTC21B TMEM67 TMEM216 RPGRIP1L OFD1 NPHP3
5 microtubule organizing center GO:0005815 9.95 RPGRIP1L OFD1 MKS1 CEP41 CEP290 CEP120
6 ciliary basal body GO:0036064 9.91 RPGRIP1L OFD1 MKS1 KIF7 CEP41 CEP290
7 centriole GO:0005814 9.88 OFD1 MKS1 CEP41 CEP290 CEP120 AHI1
8 ciliary transition zone GO:0035869 9.87 TMEM67 TMEM216 TCTN1 RPGRIP1L MKS1 CEP290
9 MKS complex GO:0036038 9.86 TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
10 cytoskeleton GO:0005856 9.86 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
11 motile cilium GO:0031514 9.72 OFD1 NPHP1 ARL13B
12 axoneme GO:0005930 9.71 RPGRIP1L INPP5E ARL13B
13 ciliary membrane GO:0060170 9.7 TMEM67 TCTN2 ARL13B
14 photoreceptor connecting cilium GO:0032391 9.67 RPGRIP1L NPHP1 CEP290
15 cell projection GO:0042995 9.58 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.9 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 NPHP1
2 G2/M transition of mitotic cell cycle GO:0000086 9.77 OFD1 CEP41 CEP290
3 smoothened signaling pathway GO:0007224 9.73 TTC21B TCTN2 CC2D2A ARL13B
4 ciliary basal body-plasma membrane docking GO:0097711 9.73 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
5 determination of left/right symmetry GO:0007368 9.72 RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.7 OFD1 CEP41 CEP290
7 heart looping GO:0001947 9.67 NPHP3 ARL13B AHI1
8 regulation of smoothened signaling pathway GO:0008589 9.67 TTC21B TCTN1 RPGRIP1L MKS1
9 non-motile cilium assembly GO:1905515 9.65 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
10 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
11 axoneme assembly GO:0035082 9.58 OFD1 CC2D2A
12 protein localization to ciliary transition zone GO:1904491 9.58 TCTN2 TCTN1 CC2D2A
13 hindbrain development GO:0030902 9.57 CEP290 AHI1
14 head development GO:0060322 9.56 RPGRIP1L MKS1
15 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
16 left/right axis specification GO:0070986 9.54 ARL13B AHI1
17 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.51 OFD1 NPHP3
18 neural tube patterning GO:0021532 9.48 RPGRIP1L ARL13B
19 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.46 NPHP3 MKS1
20 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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