Joubert Syndrome 1 (JBTS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 1

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Aliases & Descriptions for Joubert Syndrome 1:

Name: Joubert Syndrome 1 52 11 48 70 27 12
Joubert Syndrome 52 11 71 48 25 49 54 70 27 13
Cerebellooculorenal Syndrome 1 11 48 25 70
Cerebelloparenchymal Disorder Iv 11 54 70
Joubert-Boltshauser Syndrome 48 54 70
Joubert Syndrome 23 11 70 27
Cors1 11 48 70
Jbts1 11 48 70
Jbts 11 25 70
Cpd4 11 48 70
Familial Aplasia of the Vermis 25 68
Agenesis of Cerebellar Vermis 25 27
Jbts23 11 70
Cerebello-Oculo-Renal Syndrome 1 70
Cerebelloparenchymal Disorder 4 48
Cerebello-Oculo-Renal Syndrome 25
Joubert-Bolthauser Syndrome 25
Cerebellar Vermis Agenesis 48
Classic Joubert Syndrome 54
Joubert Syndrome Type a 54
Pure Joubert Syndrome 54
Cpd Iv 54
Cors 25


Orphanet epidemiological data:

joubert syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Netherlands); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile


joubert syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: phenotypic variability
joubert syndrome:
Inheritance: autosomal recessive inheritance


External Ids:

ICD1030 Q04.3
Orphanet54 ORPHA475
ICD10 via Orphanet31 Q04.3

Summaries for Joubert Syndrome 1

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OMIM:52 Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the... (213300) more...

MalaCards based summary: Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 4 and joubert syndrome 10, and has symptoms including ataxia, ataxia and Array. An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways are Signaling by Hedgehog and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include brain, eye and liver, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:11 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Genetics Home Reference:25 Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

NIH Rare Diseases:48 Joubert syndrome is disorder of brain development that may affect many parts of the body. it is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). together, these cause the characteristic appearance of a molar tooth sign on mri. signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. various other abnormalities may also be present. joubert syndrome may be caused by mutations in any of many genes. inheritance is usually autosomal recessive, but rarely it may be x-linked recessive. treatment is supportive and depends on the symptoms in each person. last updated: 11/29/2016

NINDS:49 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the  - an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including , , and .

UniProtKB/Swiss-Prot:70 Joubert syndrome 1: 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 23: A mild 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.

Wikipedia:71 Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of... more...

Description from OMIM:52 616490

Related Diseases for Joubert Syndrome 1

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Diseases in the Joubert Syndrome-3 family:

Joubert Syndrome 4 Joubert Syndrome 14
Joubert Syndrome 22 Joubert Syndrome 8
Joubert Syndrome 9 Joubert Syndrome 17
Joubert Syndrome 15 Joubert Syndrome 21
Joubert Syndrome 6 joubert syndrome 1
Joubert Syndrome 18 Joubert Syndrome 16
Joubert Syndrome 2 Joubert Syndrome 5
Joubert Syndrome 13 Joubert Syndrome 7
Joubert Syndrome 20 Joubert Syndrome 10
Joubert Syndrome 24 Joubert Syndrome 25
Joubert Syndrome 26 Joubert Syndrome 27
Joubert Syndrome 28 Joubert Syndrome and Related Disorders
Cspp1-Related Joubert Syndrome Pde6d-Related Joubert Syndrome
Ahi1-Related Joubert Syndrome Arl13b-Related Joubert Syndrome
C5orf42-Related Joubert Syndrome Cc2d2a-Related Joubert Syndrome
Cep290-Related Joubert Syndrome Cep41-Related Joubert Syndrome
Inpp5e-Related Joubert Syndrome Kiaa0586-Related Joubert Syndrome
Kif7-Related Joubert Syndrome Nphp1-Related Joubert Syndrome
Ofd1-Related Joubert Syndrome Rpgrip1l-Related Joubert Syndrome
Tctn1-Related Joubert Syndrome Tctn2-Related Joubert Syndrome
Tctn3-Related Joubert Syndrome Tmem138-Related Joubert Syndrome
Tmem216-Related Joubert Syndrome Tmem231-Related Joubert Syndrome
Tmem237-Related Joubert Syndrome Tmem67-Related Joubert Syndrome
Ttc21b-Related Joubert Syndrome Znf423-Related Joubert Syndrome

Diseases related to Joubert Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome 433.6AHI1, ARL13B, CC2D2A, CEP290, MKS1, TMEM216
2joubert syndrome 1033.4CEP290, OFD1
3cor triatriatum12.5
4cor triatriatum sinister12.3
5joubert syndrome 212.2
6cor triatriatum dexter12.1
7joubert syndrome 612.1
8joubert syndrome 512.1
9isolated cerebellar vermis agenesis12.1
10isolated partial cerebellar vermis agenesis12.1
11isolated total cerebellar vermis agenesis12.1
12joubert syndrome 2112.1
13joubert syndrome 1412.1
14joubert syndrome 1512.1
15joubert syndrome 1812.1
16joubert syndrome 1612.1
17joubert syndrome 812.0
18joubert syndrome 912.0
19joubert syndrome 1712.0
20joubert syndrome 1312.0
21joubert syndrome 712.0
22joubert syndrome 2012.0
23joubert syndrome 2712.0
24joubert syndrome 2212.0
25joubert syndrome 2412.0
26joubert syndrome 2512.0
27joubert syndrome 2612.0
28joubert syndrome 2812.0
29acute cor pulmonale12.0
30cor biloculare11.9
31joubert syndrome and related disorders11.9
32cc2d2a-related joubert syndrome11.8
33joubert syndrome with oculorenal anomalies11.8
34coach syndrome11.8
35joubert syndrome with ocular anomalies11.7
36joubert syndrome with renal anomalies11.7
37ttc21b-related joubert syndrome11.7
38ahi1-related joubert syndrome11.7
39arl13b-related joubert syndrome11.7
40c5orf42-related joubert syndrome11.7
41cep290-related joubert syndrome11.7
42cep41-related joubert syndrome11.7
43kif7-related joubert syndrome11.7
44nphp1-related joubert syndrome11.7
45ofd1-related joubert syndrome11.7
46tctn1-related joubert syndrome11.7
47tctn3-related joubert syndrome11.7
48tmem138-related joubert syndrome11.7
49tmem216-related joubert syndrome11.7
50tmem231-related joubert syndrome11.7

Graphical network of the top 20 diseases related to Joubert Syndrome 1:

Diseases related to joubert syndrome 1

Symptoms & Phenotypes for Joubert Syndrome 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Joubert Syndrome 1:

 54 64 (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft64 54 Occasional (29-5%) HP:0000202
2 hydrocephalus64 54 Occasional (29-5%) HP:0000238
3 long face64 54 Frequent (79-30%) HP:0000276
4 low-set ears64 54 Occasional (29-5%) HP:0000369
5 prominent nasal bridge64 54 Occasional (29-5%) HP:0000426
6 anteverted nares64 54 Occasional (29-5%) HP:0000463
7 strabismus64 54 Occasional (29-5%) HP:0000486
8 ptosis64 54 Occasional (29-5%) HP:0000508
9 iris coloboma64 54 Occasional (29-5%) HP:0000612
10 nystagmus64 54 Frequent (79-30%) HP:0000639
11 oculomotor apraxia64 54 Very frequent (99-80%) HP:0000657
12 abnormality of the hypothalamus-pituitary axis64 54 Occasional (29-5%) HP:0000864
13 hand polydactyly64 54 Occasional (29-5%) HP:0001161
14 intellectual disability64 54 Very frequent (99-80%) HP:0001249
15 seizures64 54 Occasional (29-5%) HP:0001250
16 ataxia64 54 Very frequent (99-80%) HP:0001251
17 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
18 global developmental delay64 54 Very frequent (99-80%) HP:0001263
19 gait disturbance64 54 Frequent (79-30%) HP:0001288
20 cerebellar vermis hypoplasia64 54 Very frequent (99-80%) HP:0001320
21 tremor64 54 Occasional (29-5%) HP:0001337
22 situs inversus totalis64 54 Occasional (29-5%) HP:0001696
23 foot polydactyly64 54 Occasional (29-5%) HP:0001829
24 encephalocele64 54 Occasional (29-5%) HP:0002084
25 apnea64 54 Very frequent (99-80%) HP:0002104
26 polymicrogyria64 54 Occasional (29-5%) HP:0002126
27 aganglionic megacolon64 54 Occasional (29-5%) HP:0002251
28 abnormality of neuronal migration54 Occasional (29-5%)
29 highly arched eyebrow64 54 Occasional (29-5%) HP:0002553
30 malformation of the heart and great vessels54 Occasional (29-5%)
31 scoliosis64 54 Occasional (29-5%) HP:0002650
32 abnormal pattern of respiration54 Very frequent (99-80%)
33 episodic tachypnea64 54 Very frequent (99-80%) HP:0002876
34 abnormal form of the vertebral bodies64 54 Occasional (29-5%) HP:0003312
35 biparietal narrowing64 54 Frequent (79-30%) HP:0004422
36 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
37 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
38 renal cyst64 HP:0000107
39 macroglossia64 HP:0000158
40 macrocephaly64 HP:0000256
41 epicanthus64 HP:0000286
42 retinal dystrophy64 HP:0000556
43 chorioretinal coloboma64 HP:0000567
44 abnormality of saccadic eye movements64 HP:0000570
45 optic nerve coloboma64 HP:0000588
46 aggressive behavior64 HP:0000718
47 self-mutilation64 HP:0000742
48 hyperactivity64 HP:0000752
49 postaxial hand polydactyly64 HP:0001162
50 hepatic fibrosis64 HP:0001395
51 abnormality of the foot64 HP:0001760
52 dysgenesis of the cerebellar vermis64 HP:0002195
53 agenesis of cerebellar vermis64 HP:0002335
54 hypoplasia of the brainstem64 HP:0002365
55 molar tooth sign on mri64 HP:0002419
56 brainstem dysplasia64 HP:0002508
57 neonatal breathing dysregulation64 HP:0002790
58 central apnea64 HP:0002871
59 occipital myelomeningocele64 HP:0007271
60 impaired smooth pursuit64 HP:0007772
61 retinal dysplasia64 HP:0007973
62 protruding tongue64 HP:0010808
63 hemifacial spasm64 HP:0010828
64 prominent forehead64 HP:0011220
65 elongated superior cerebellar peduncle64 HP:0011933
66 enlarged fossa interpeduncularis64 HP:0100951
67 triangular-shaped open mouth64 HP:0200096
68 abnormality of eye movement64 HP:0000496
69 coloboma64 HP:0000589
70 tachypnea64 HP:0002789
71 dysplastic corpus callosum64 HP:0006989
72 cerebellar dysplasia64 HP:0007033
73 polydactyly64 HP:0010442

UMLS symptoms related to Joubert Syndrome 1:


MGI Mouse Phenotypes related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537011.1B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:000538110.9B9D1, B9D2, CC2D2A, IFT172, INPP5E, MKS1
3MP:000538210.9B9D1, CC2D2A, CEP290, IFT172, INPP5E, KIAA0586
4MP:000539010.9CEP290, IFT172, INPP5E, KIAA0586, MKS1, OFD1
5MP:000538510.9B9D1, C2CD3, CC2D2A, CEP290, IFT172, KIAA0586
6MP:000538810.9ARL13B, B9D2, CC2D2A, CEP290, IFT172, MKS1
7MP:000537110.9B9D1, C2CD3, CC2D2A, IFT172, INPP5E, KIAA0586
8MP:000536710.9AHI1, B9D1, CC2D2A, CEP290, IFT172, INPP5E
9MP:000538010.8ARL13B, B9D1, C2CD3, CC2D2A, IFT172, INPP5E
10MP:000538410.8AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
11MP:001076810.7AHI1, ARL13B, B9D1, B9D2, C2CD3, CC2D2A
12MP:000363110.7AHI1, ARL13B, B9D1, C2CD3, CC2D2A, CEP290
13MP:000537810.7AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP290
14MP:000539110.1AHI1, B9D1, CC2D2A, CEP290, IFT172, INPP5E

Drugs & Therapeutics for Joubert Syndrome 1

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Drugs for Joubert Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavanutraceuticalPhase 41619000-38-8
2Protective AgentsPhase 27443
3ViscosupplementsPhase 2390
4HylanPhase 246
5ImmunoglobulinsPhase 2, Phase 16394
6AntibodiesPhase 2, Phase 16394
7AutoantibodiesPhase 2, Phase 1130
8Adrenergic AgentsPhase 15352
9Liver Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cryoenergy Or Radiofrequency for Pulmonary Vein IsolationCompletedNCT00969735Phase 4
2Pilot Study of COR-1 in Heart FailureCompletedNCT01391507Phase 2
3Hydros Joint Therapy and Hydros-TA Joint Therapy for Pain Associated With Knee Osteoarthritis (OA)CompletedNCT01134406Phase 2
4Safety, Pharmacokinetic and Pharmacodynamic Study of COR-1, an Anti-ß1 Receptor Antibody CyclopeptideCompletedNCT01043146Phase 1
5Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert SyndromeCompletedNCT00873678
6Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
7UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
8Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Joubert Syndrome 1

Genetic Tests for Joubert Syndrome 1

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Genetic tests related to Joubert Syndrome 1:

id Genetic test Affiliating Genes
1 Joubert Syndrome27
2 Joubert Syndrome 127
3 Joubert Syndrome 2327
4 Agenesis of Cerebellar Vermis27

Anatomical Context for Joubert Syndrome 1

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MalaCards organs/tissues related to Joubert Syndrome 1:

Brain, Eye, Liver, Tongue, Kidney, Spinal cord, Cerebellum

Publications for Joubert Syndrome 1

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Variations for Joubert Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 1:

70 (show all 15)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Joubert Syndrome 1:

5 (show all 88)
id Gene Variation Type Significance SNP ID Assembly Location
1RPGRIP1LNM_ 015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr)SNVrisk factorrs61747071GRCh37Chr 16, 53720436: 53720436
2TMEM67NM_ 153704.5(TMEM67): c.622A> T (p.Arg208Ter)SNVPathogenicrs137853108GRCh37Chr 8, 94777845: 94777845
3C2CD3NM_ 001286577.1(C2CD3): c.184C> T (p.Arg62Ter)SNVPathogenicrs587777653GRCh38Chr 11, 74168485: 74168485
4CEP290NM_ 025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs)duplicationPathogenicrs587783017GRCh37Chr 12, 88449444: 88449444
5CC2D2ANM_ 001080522.2(CC2D2A): c.1017+1G> ASNVPathogenicrs200407856GRCh37Chr 4, 15517628: 15517628
6RPGRIP1LNM_ 015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)duplicationPathogenicrs778149316GRCh38Chr 16, 53652978: 53652978
7RPGRIP1LNM_ 015272.4(RPGRIP1L): c.230+1G> ASNVLikely pathogenicrs786204135GRCh38Chr 16, 53696150: 53696150
8B9D2NM_ 030578.3(B9D2): c.156_ 163delGGACATGG (p.Asp53Leufs)deletionLikely pathogenicrs786204189GRCh37Chr 19, 41863853: 41863860
9TCTN2NM_ 024809.4(TCTN2): c.1877T> A (p.Leu626Ter)SNVPathogenicrs786204788GRCh37Chr 12, 124191380: 124191380
10TMEM216NM_ 001173990.2(TMEM216): c.218G> T (p.Arg73Leu)SNVPathogenicrs201108965GRCh37Chr 11, 61161437: 61161437
11AHI1NM_ 001134831.1(AHI1): c.2168G> A (p.Arg723Gln)SNVPathogenic/ Likely pathogenicrs121434351GRCh37Chr 6, 135754263: 135754263
12KIAA0586NM_ 001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs)deletionPathogenicrs534542684GRCh38Chr 14, 58432439: 58432439
13KIAA0586NM_ 001244189.1(KIAA0586): c.1413-1G> CSNVPathogenicrs757350052GRCh38Chr 14, 58456701: 58456701
14KIAA0586NM_ 001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter)SNVPathogenicrs796052128GRCh37Chr 14, 58917335: 58917335
15KIAA0586NM_ 001244189.1(KIAA0586): c.863_ 864delAA (p.Gln288Argfs)deletionPathogenicrs770566897GRCh38Chr 14, 58444072: 58444073
16KIAA0586NM_ 001244189.1(KIAA0586): c.1697A> T (p.Asp566Val)SNVPathogenicrs796052129GRCh37Chr 14, 58924652: 58924652
17CEP290NM_ 025114.3(CEP290): c.4276_ 4277delAA (p.Asn1426Terfs)deletionPathogenicrs863224523GRCh38Chr 12, 88086416: 88086417
18TMEM67NM_ 153704.5(TMEM67): c.725A> G (p.Asn242Ser)SNVPathogenic/ Likely pathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
19AHI1NM_ 001134831.1(AHI1): c.1267C> T (p.Gln423Ter)SNVPathogenicrs777668842GRCh38Chr 6, 135455811: 135455811
20B9D1NM_ 015681.4(B9D1): c.285C> A (p.Phe95Leu)SNVPathogenicrs373478202GRCh37Chr 17, 19251153: 19251153
21B9D1NM_ 015681.4(B9D1): c.466C> T (p.Arg156Trp)SNVPathogenicrs369488112GRCh38Chr 17, 19343796: 19343796
22B9D1NM_ 015681.4(B9D1): c.95A> G (p.Tyr32Cys)SNVPathogenicrs771170000GRCh37Chr 17, 19263670: 19263670
23B9D2NM_ 030578.3(B9D2): c.463G> A (p.Gly155Ser)SNVPathogenicrs750436680GRCh37Chr 19, 41860670: 41860670
24B9D2NM_ 030578.3(B9D2): c.220C> T (p.Pro74Ser)SNVPathogenicrs863225150GRCh38Chr 19, 41355008: 41355008
25C2CD3NM_ 001286577.1(C2CD3): c.4951+1G> TSNVPathogenicrs863225151GRCh38Chr 11, 74074252: 74074252
26C2CD3NM_ 001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu)SNVPathogenicrs150291837GRCh38Chr 11, 74049431: 74049431
27CC2D2ANM_ 001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter)SNVPathogenicrs781252161GRCh37Chr 4, 15534907: 15534907
28CEP290NM_ 025114.3(CEP290): c.4966_ 4967delGA (p.Glu1656Asnfs)deletionPathogenicrs756302731GRCh37Chr 12, 88476853: 88476854
29INPP5ENM_ 019892.5(INPP5E): c.907G> A (p.Val303Met)SNVPathogenicrs746212325GRCh38Chr 9, 136434769: 136434769
30INPP5ENM_ 019892.5(INPP5E): c.1684A> G (p.Ser562Gly)SNVPathogenicrs863225197GRCh38Chr 9, 136430395: 136430395
31INPP5ENM_ 019892.5(INPP5E): c.1064C> T (p.Thr355Met)SNVPathogenicrs863225198GRCh38Chr 9, 136433250: 136433250
32INPP5ENM_ 019892.5(INPP5E): c.1760delT (p.Val587Glyfs)deletionPathogenicrs775518991GRCh38Chr 9, 136430319: 136430319
33INPP5ENM_ 019892.5(INPP5E): c.1754G> A (p.Arg585His)SNVPathogenicrs752300607GRCh38Chr 9, 136430325: 136430325
34INPP5ENM_ 019892.5(INPP5E): c.1897_ 1898delCA (p.Gln633Glufs)deletionPathogenicrs863225199GRCh38Chr 9, 136429712: 136429713
35INPP5ENM_ 019892.5(INPP5E): c.1154G> A (p.Cys385Tyr)SNVPathogenicrs863225200GRCh38Chr 9, 136433160: 136433160
36INPP5ENM_ 019892.5(INPP5E): c.1577C> T (p.Pro526Leu)SNVPathogenicrs746867724GRCh38Chr 9, 136431090: 136431090
37INPP5ENM_ 019892.5(INPP5E): c.1021G> A (p.Gly341Ser)SNVPathogenicrs780882740GRCh38Chr 9, 136434050: 136434050
38INPP5ENM_ 019892.5(INPP5E): c.944C> T (p.Pro315Leu)SNVPathogenicrs754637179GRCh38Chr 9, 136434127: 136434127
39INPP5ENM_ 019892.5(INPP5E): c.1162G> T (p.Val388Leu)SNVPathogenicrs863225201GRCh38Chr 9, 136433073: 136433073
40INPP5ENM_ 019892.5(INPP5E): c.1249T> C (p.Ser417Pro)SNVPathogenicrs863225202GRCh38Chr 9, 136432986: 136432986
41INPP5ENM_ 019892.5(INPP5E): c.1468G> T (p.Asp490Tyr)SNVPathogenicrs757222534GRCh38Chr 9, 136431905: 136431905
42KIAA0586NM_ 001244189.1(KIAA0586): c.1430_ 1433delAGCTinsGA (p.Glu477Glyfs)indelPathogenicrs869312856GRCh38Chr 14, 58456719: 58456722
43KIAA0586NM_ 001244189.1(KIAA0586): c.3303G> A (p.Pro1101=)SNVPathogenicrs540255320GRCh38Chr 14, 58482712: 58482712
44KIAA0586NM_ 001244189.1(KIAA0586): c.1730_ 1734delTATCT (p.Leu577Tyrfs)deletionPathogenicrs863225203GRCh38Chr 14, 58457967: 58457971
45KIAA0586NM_ 001244189.1(KIAA0586): c.802C> T (p.Gln268Ter)SNVPathogenicrs201097695GRCh37Chr 14, 58910729: 58910729
46MKS1NM_ 017777.3(MKS1): c.1208C> T (p.Ser403Leu)SNVPathogenic/ Likely pathogenicrs773684291GRCh37Chr 17, 56285320: 56285320
47MKS1NM_ 017777.3(MKS1): c.1528dupC (p.Arg510Profs)duplicationPathogenicrs863225204GRCh37Chr 17, 56283704: 56283704
48MKS1NM_ 017777.3(MKS1): c.262-179_ 262-37deldeletionPathogenicGRCh37Chr 17, 56293641: 56293783
49MKS1NM_ 017777.3(MKS1): c.55G> T (p.Asp19Tyr)SNVPathogenicrs863225205GRCh37Chr 17, 56296537: 56296537
50MKS1NM_ 017777.3(MKS1): c.381delC (p.Tyr128Thrfs)deletionPathogenicrs863225206GRCh37Chr 17, 56293485: 56293485
51MKS1NM_ 017777.3(MKS1): c.1115_ 1117delCCT (p.Ser372del)deletionPathogenicrs754279998GRCh37Chr 17, 56285514: 56285516
52MKS1NM_ 017777.3(MKS1): c.1589-2A> TSNVPathogenicrs863225207GRCh37Chr 17, 56283533: 56283533
53MKS1NM_ 017777.3(MKS1): c.950G> A (p.Gly317Glu)SNVPathogenicrs863225208GRCh37Chr 17, 56288349: 56288349
54MKS1NM_ 001165927.1(MKS1): c.737_ 738insC (p.Glu246Aspfs)insertionPathogenicrs863225209GRCh37Chr 17, 56290433: 56290434
55MKS1NM_ 001165927.1(MKS1): c.1231C> T (p.Pro411Ser)SNVPathogenicrs863225210GRCh37Chr 17, 56285267: 56285267
56MKS1NM_ 017777.3(MKS1): c.493C> T (p.Arg165Cys)SNVLikely pathogenicrs779953982GRCh37Chr 17, 56292124: 56292124
57MKS1NM_ 017777.3(MKS1): c.1389G> T (p.Arg463=)SNVLikely pathogenicrs773269657GRCh37Chr 17, 56284464: 56284464
58PIBF1NM_ 006346.3(PIBF1): c.1669delC (p.Leu557Phefs)deletionLikely pathogenicrs863225214GRCh37Chr 13, 73491243: 73491243
59PIBF1NM_ 006346.3(PIBF1): c.1214G> A (p.Arg405Gln)SNVLikely pathogenicrs17089782GRCh37Chr 13, 73409497: 73409497
60TCTN2NM_ 024809.4(TCTN2): c.1626delT (p.Asp543Ilefs)deletionPathogenicrs863225220GRCh37Chr 12, 124189092: 124189092
61TCTN2NM_ 024809.4(TCTN2): c.1751T> A (p.Ile584Lys)SNVPathogenicrs201010803GRCh37Chr 12, 124189217: 124189217
62TCTN2NM_ 024809.4(TCTN2): c.1291G> T (p.Glu431Ter)SNVPathogenicrs863225221GRCh37Chr 12, 124179823: 124179823
63TCTN2NM_ 024809.4(TCTN2): c.76dupG (p.Asp26Glyfs)duplicationPathogenicrs863225222GRCh37Chr 12, 124155863: 124155863
64TCTN2NM_ 024809.4(TCTN2): c.71delG (p.Asp26Thrfs)deletionPathogenicrs863225223GRCh37Chr 12, 124155858: 124155858
65TCTN2NM_ 024809.4(TCTN2): c.613G> T (p.Gly205Cys)SNVPathogenicrs201827132GRCh37Chr 12, 124171431: 124171431
66KIAA0556NM_ 015202.3(KIAA0556): c.2674C> T (p.Gln892Ter)SNVPathogenic/ Likely pathogenicrs864309712GRCh37Chr 16, 27760955: 27760955
67CC2D2ANM_ 001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter)SNVPathogenicrs375278294GRCh37Chr 4, 15575830: 15575830
68RPGRIP1LNM_ 015272.4(RPGRIP1L): c.1120delC (p.His374Metfs)deletionPathogenicrs878855006GRCh38Chr 16, 53664993: 53664993
69CEP290NM_ 025114.3(CEP290): c.4437+1G> ASNVPathogenic/ Likely pathogenicrs760915898GRCh37Chr 12, 88479815: 88479815
70TMEM237NM_ 001044385.2(TMEM237): c.52C> T (p.Arg18Ter)SNVPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
71KIAA0586NM_ 001244189.1(KIAA0586): c.949C> T (p.Gln317Ter)SNVPathogenicrs1057516038GRCh38Chr 14, 58444158: 58444158
72MICALL2NM_ 182924.3(MICALL2): c.851C> G (p.Pro284Arg)SNVPathogenicrs556808514GRCh38Chr 7, 1445219: 1445219
73SLC30A7NM_ 133496.4(SLC30A7): c.490_ 491delCAinsAG (p.His164Ser)indelPathogenicrs1057519442GRCh37Chr 1, 101377773: 101377774
74INPP5ENM_ 019892.5(INPP5E): c.1543C> T (p.Arg515Trp)SNVPathogenicrs13297509GRCh37Chr 9, 139326282: 139326282
75INPP5ENM_ 019892.5(INPP5E): c.1688G> A (p.Arg563His)SNVPathogenicrs121918128GRCh37Chr 9, 139324843: 139324843
76INPP5ENM_ 019892.5(INPP5E): c.1304G> A (p.Arg435Gln)SNVPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
77INPP5ENM_ 019892.5(INPP5E): c.1132C> T (p.Arg378Cys)SNVPathogenicrs121918130GRCh37Chr 9, 139327634: 139327634
78OFD1NM_ 003611.2(OFD1): c.2725C> T (p.Arg909Ter)SNVPathogenicrs1060500123GRCh38Chr X, 13767252: 13767252
79RPGRIP1LNM_ 015272.4(RPGRIP1L): c.1072_ 1073dupTT (p.Leu358Phefs)duplicationPathogenicGRCh38Chr 16, 53671540: 53671541
80RPGRIP1LNM_ 015272.4(RPGRIP1L): c.2794_ 2795delTT (p.Leu932Argfs)deletionPathogenicrs778824093GRCh38Chr 16, 53641364: 53641365
81TMEM67NM_ 153704.5(TMEM67): c.2314_ 2322+4delinsGGindelPathogenicGRCh38Chr 8, 93803676: 93803688
82CC2D2ANM_ 001080522.2(CC2D2A): c.1267C> T (p.Arg423Ter)SNVPathogenicrs757208121GRCh38Chr 4, 15527564: 15527564
83AHI1NC_ 000006.12: g.(?_ 135429882)_ (135433256_ ?)deldeletionPathogenicGRCh37Chr 6, 135751020: 135754394
84CC2D2ANC_ 000004.12: g.(?_ 15478723)_ (15480827_ ?)deldeletionPathogenicGRCh37Chr 4, 15480347: 15482451
85MKS1NM_ 017777.3(MKS1): c.1450_ 1453dupGGCA (p.Thr485Argfs)duplicationPathogenic/ Likely pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
86CEP290NM_ 025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionPathogenic/ Likely pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
87CC2D2ANM_ 001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)SNVPathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
88IFT172NM_ 015662.2(IFT172): c.4630C> T (p.Arg1544Cys)SNVPathogenicrs587777079GRCh37Chr 2, 27670411: 27670411

Expression for genes affiliated with Joubert Syndrome 1

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Search GEO for disease gene expression data for Joubert Syndrome 1.

Pathways for genes affiliated with Joubert Syndrome 1

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GO Terms for genes affiliated with Joubert Syndrome 1

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Cellular components related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:006017011.2ARL13B, TCTN2, TMEM67
2centriolar satelliteGO:003445111.2C2CD3, CEP290, OFD1
3axonemeGO:000593011.1ARL13B, IFT172, INPP5E, RPGRIP1L
4centrioleGO:000581411.1AHI1, C2CD3, CEP290, KIAA0586, MKS1, OFD1
5ciliary transition zoneGO:003586910.9B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
6ciliary basal bodyGO:003606410.9AHI1, B9D1, B9D2, C2CD3, CEP290, IFT172
7centrosomeGO:000581310.8AHI1, B9D1, B9D2, C2CD3, CEP290, CSPP1
8ciliumGO:000592910.8AHI1, ARL13B, B9D2, CC2D2A, CEP290, IFT172
9cytosolGO:000582910.6AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
10cytoskeletonGO:000585610.6AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
11cytoplasmGO:000573710.6AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
12cell projectionGO:004299510.5AHI1, ARL13B, B9D1, B9D2, C2CD3, CC2D2A
13microtubule organizing centerGO:000581510.5CEP290, CSPP1, KIAA0586, MKS1, OFD1, RPGRIP1L
14MKS complexGO:003603810.1AHI1, B9D1, B9D2, CC2D2A, CEP290, MKS1

Biological processes related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:004301011.0B9D1, CC2D2A, RPGRIP1L
2embryonic brain developmentGO:199040311.0CC2D2A, MKS1
3head developmentGO:006032211.0MKS1, RPGRIP1L
4hindbrain developmentGO:003090211.0AHI1, CEP290
5motile cilium assemblyGO:004445811.0CC2D2A, MKS1
6embryonic digit morphogenesisGO:004273311.0B9D1, C2CD3, MKS1
7left/right axis specificationGO:007098610.9AHI1, ARL13B, IFT172
8neural tube patterningGO:002153210.9ARL13B, RPGRIP1L
9regulation of establishment of protein localizationGO:007020110.9CEP290, KIAA0586
10neural tube closureGO:000184310.9CC2D2A, IFT172, MKS1
11heart loopingGO:000194710.9AHI1, ARL13B, C2CD3, IFT172
12determination of left/right symmetryGO:000736810.9ARL13B, CC2D2A, IFT172, MKS1, RPGRIP1L
13regulation of smoothened signaling pathwayGO:000858910.8C2CD3, IFT172, MKS1, RPGRIP1L
14non-motile cilium assemblyGO:190551510.7ARL13B, C2CD3, CC2D2A, IFT172, MKS1, RPGRIP1L
15ciliary basal body dockingGO:009771110.6AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
16cell projection organizationGO:003003010.6AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
17cilium assemblyGO:006027110.4AHI1, ARL13B, B9D1, B9D2, C2CD3, CC2D2A
18smoothened signaling pathwayGO:000722410.2ARL13B, B9D1, CC2D2A, IFT172, KIAA0586, TCTN2

Molecular functions related to Joubert Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1filamin bindingGO:003100510.8MICALL2, TMEM67
2gamma-tubulin bindingGO:004301510.4B9D2, OFD1

Sources for Joubert Syndrome 1

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet