MCID: JBR020
MIFTS: 59

Joubert Syndrome 1 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 48 70 27 12
Joubert Syndrome 52 11 71 48 25 49 54 70 13
Cerebellooculorenal Syndrome 1 48 25 70
Familial Aplasia of the Vermis 25 27 68
Joubert-Boltshauser Syndrome 48 54 70
Jbts 11 25 70
Cerebelloparenchymal Disorder Iv 54 70
Agenesis of Cerebellar Vermis 25 27
Joubert Syndrome 23 70 27
Jbts1 48 70
Cors1 48 70
Cpd4 48 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
Jbts23 70
Cpd Iv 54
Cors 25

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
joubert syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

Disease Ontology11 DOID:0050777
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 cor triatriatum and joubert syndrome 2, and has symptoms including oculomotor apraxia, muscular hypotonia and apnea. An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain, eye and cerebellum, 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

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 genetic disorder that affects the cerebellum, an area of the brain that... 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 and Related Disorders Cspp1-Related Joubert Syndrome
Kiaa0586-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 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 Joubert Syndrome 27

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

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1cor triatriatum12.4
2joubert syndrome 212.2
3cor triatriatum sinister12.1
4cor triatriatum dexter12.1
5joubert syndrome 612.1
6isolated cerebellar vermis agenesis12.1
7isolated partial cerebellar vermis agenesis12.1
8isolated total cerebellar vermis agenesis12.1
9joubert syndrome 512.1
10joubert syndrome 1012.1
11joubert syndrome 2112.0
12joubert syndrome 412.0
13joubert syndrome 1412.0
14joubert syndrome 1512.0
15joubert syndrome 1812.0
16joubert syndrome 1612.0
17acute cor pulmonale12.0
18joubert syndrome 2712.0
19joubert syndrome 812.0
20joubert syndrome 912.0
21joubert syndrome 1712.0
22joubert syndrome 1312.0
23joubert syndrome 712.0
24joubert syndrome 2012.0
25joubert syndrome 2212.0
26cor biloculare11.9
27joubert syndrome and related disorders11.9
28cc2d2a-related joubert syndrome11.8
29joubert syndrome with oculorenal anomalies11.8
30coach syndrome11.8
31joubert syndrome with ocular anomalies11.8
32joubert syndrome with renal anomalies11.7
33ttc21b-related joubert syndrome11.7
34ahi1-related joubert syndrome11.7
35arl13b-related joubert syndrome11.7
36c5orf42-related joubert syndrome11.7
37cep290-related joubert syndrome11.7
38cep41-related joubert syndrome11.7
39kif7-related joubert syndrome11.7
40nphp1-related joubert syndrome11.7
41ofd1-related joubert syndrome11.7
42tctn1-related joubert syndrome11.7
43tctn3-related joubert syndrome11.7
44tmem138-related joubert syndrome11.7
45tmem216-related joubert syndrome11.7
46tmem231-related joubert syndrome11.7
47tmem237-related joubert syndrome11.7
48tmem67-related joubert syndrome11.7
49znf423-related joubert syndrome11.7
50cspp1-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:

213300

Clinical features from OMIM:

213300,616490

Human phenotypes related to Joubert Syndrome 1:

 64 54 (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oculomotor apraxia64 54 hallmark (90%) Very frequent (99-80%) HP:0000657
2 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
3 apnea64 54 hallmark (90%) Very frequent (99-80%) HP:0002104
4 incoordination64 hallmark (90%) HP:0002311
5 aplasia/hypoplasia of the cerebellum64 hallmark (90%) HP:0007360
6 cognitive impairment64 hallmark (90%) HP:0100543
7 long face64 54 typical (50%) Frequent (79-30%) HP:0000276
8 narrow forehead64 typical (50%) HP:0000341
9 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
10 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
11 oral cleft64 54 occasional (7.5%) Occasional (29-5%) HP:0000202
12 hydrocephalus64 54 occasional (7.5%) Occasional (29-5%) HP:0000238
13 low-set, posteriorly rotated ears64 occasional (7.5%) HP:0000368
14 prominent nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000426
15 anteverted nares64 54 occasional (7.5%) Occasional (29-5%) HP:0000463
16 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
17 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
18 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
19 abnormality of the hypothalamus-pituitary axis64 54 occasional (7.5%) Occasional (29-5%) HP:0000864
20 hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001161
21 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
22 tremor64 54 occasional (7.5%) Occasional (29-5%) HP:0001337
23 situs inversus totalis64 54 occasional (7.5%) Occasional (29-5%) HP:0001696
24 foot polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001829
25 encephalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0002084
26 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
27 abnormality of neuronal migration64 54 occasional (7.5%) Occasional (29-5%) HP:0002269
28 highly arched eyebrow64 54 occasional (7.5%) Occasional (29-5%) HP:0002553
29 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
30 aplasia/hypoplasia of the corpus callosum64 54 occasional (7.5%) Occasional (29-5%) HP:0007370
31 coloboma64 rare (5%) HP:0000589
32 dysplastic corpus callosum64 rare (5%) HP:0006989
33 cerebellar dysplasia64 rare (5%) HP:0007033
34 polydactyly64 rare (5%) HP:0010442
35 renal cyst64 HP:0000107
36 macroglossia64 HP:0000158
37 macrocephaly64 HP:0000256
38 epicanthus64 HP:0000286
39 low-set ears64 54 Occasional (29-5%) HP:0000369
40 retinal dystrophy64 HP:0000556
41 chorioretinal coloboma64 HP:0000567
42 abnormality of saccadic eye movements64 HP:0000570
43 optic nerve coloboma64 HP:0000588
44 aggressive behavior64 HP:0000718
45 self-mutilation64 HP:0000742
46 hyperactivity64 HP:0000752
47 postaxial hand polydactyly64 HP:0001162
48 intellectual disability64 54 Very frequent (99-80%) HP:0001249
49 ataxia64 54 Very frequent (99-80%) HP:0001251
50 global developmental delay64 54 Very frequent (99-80%) HP:0001263
51 cerebellar vermis hypoplasia64 54 Very frequent (99-80%) HP:0001320
52 hepatic fibrosis64 HP:0001395
53 abnormality of the foot64 HP:0001760
54 dysgenesis of the cerebellar vermis64 HP:0002195
55 agenesis of cerebellar vermis64 HP:0002335
56 hypoplasia of the brainstem64 HP:0002365
57 molar tooth sign on mri64 HP:0002419
58 brainstem dysplasia64 HP:0002508
59 neonatal breathing dysregulation64 HP:0002790
60 central apnea64 HP:0002871
61 episodic tachypnea64 54 Very frequent (99-80%) HP:0002876
62 occipital myelomeningocele64 HP:0007271
63 impaired smooth pursuit64 HP:0007772
64 retinal dysplasia64 HP:0007973
65 protruding tongue64 HP:0010808
66 hemifacial spasm64 HP:0010828
67 prominent forehead64 HP:0011220
68 elongated superior cerebellar peduncle64 HP:0011933
69 enlarged fossa interpeduncularis64 HP:0100951
70 triangular-shaped open mouth64 HP:0200096
71 abnormality of eye movement64 HP:0000496
72 tachypnea64 HP:0002789
73 polymicrogyria54 Occasional (29-5%)
74 malformation of the heart and great vessels54 Occasional (29-5%)
75 abnormal pattern of respiration54 Very frequent (99-80%)
76 abnormal form of the vertebral bodies54 Occasional (29-5%)
77 biparietal narrowing54 Frequent (79-30%)
78 feeding difficulties in infancy54 Frequent (79-30%)

UMLS symptoms related to Joubert Syndrome 1:


ataxia

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

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537011.0B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:000538110.8B9D1, B9D2, C5orf42, CC2D2A, IFT172, INPP5E
3MP:000538810.8ARL13B, B9D2, C5orf42, CC2D2A, CEP290, IFT172
4MP:000539010.7C5orf42, CEP290, IFT172, INPP5E, KIAA0586, MKS1
5MP:000538210.7B9D1, C5orf42, CC2D2A, CEP290, IFT172, INPP5E
6MP:000536710.7AHI1, B9D1, C5orf42, CC2D2A, CEP290, IFT172
7MP:000538510.6B9D1, C2CD3, C5orf42, CC2D2A, CEP290, CEP41
8MP:000537110.6B9D1, C2CD3, C5orf42, CC2D2A, IFT172, INPP5E
9MP:000538410.5AHI1, B9D1, B9D2, C2CD3, C5orf42, CC2D2A
10MP:000537810.5AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A
11MP:000538010.5ARL13B, B9D1, C2CD3, C5orf42, CC2D2A, CEP41
12MP:001076810.3AHI1, ARL13B, B9D1, B9D2, C2CD3, C5orf42
13MP:000363110.3AHI1, ARL13B, B9D1, C2CD3, C5orf42, CC2D2A
14MP:000539110.0AHI1, 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 41489000-38-8
2Protective AgentsPhase 27190
3ViscosupplementsPhase 2364
4HylanPhase 245
5ImmunoglobulinsPhase 2, Phase 16045
6AntibodiesPhase 2, Phase 16045
7AutoantibodiesPhase 2, Phase 1126
8Adrenergic AgentsPhase 15140
9Liver Extracts3868

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 Familial Aplasia of the Vermis27
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:

36
Brain, Eye, Cerebellum, Liver, Spinal cord, Heart, Pituitary

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
1INPP5Ep.Arg378CysVAR_063012rs121918130
2INPP5Ep.Arg435GlnVAR_063013rs121918129
3INPP5Ep.Arg512TrpVAR_063014rs374152018
4INPP5Ep.Arg515TrpVAR_063015rs13297509
5INPP5Ep.Arg563HisVAR_063016rs121918128
6INPP5Ep.Lys580GluVAR_063017
7INPP5Ep.Arg621GlnVAR_076892
8INPP5Ep.Gly286ArgVAR_077247
9INPP5Ep.Val303MetVAR_077248
10INPP5Ep.Arg345SerVAR_077249
11INPP5Ep.Thr426AsnVAR_077250
12INPP5Ep.Tyr534AspVAR_077252
13INPP5Ep.Arg585CysVAR_077253
14INPP5Ep.Cys641ArgVAR_077254
15KIAA0586p.Asp566ValVAR_074596

Clinvar genetic disease variations for Joubert Syndrome 1:

5 (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)SNVLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
2C2CD3NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter)SNVPathogenicrs587777653GRCh38Chr 11, 74168485: 74168485
3CC2D2ANM_001080522.2(CC2D2A): c.1017+1G> ASNVPathogenicrs200407856GRCh37Chr 4, 15517628: 15517628
4RPGRIP1LNM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)duplicationPathogenicrs778149316GRCh38Chr 16, 53652978: 53652978
5TCTN2NM_024809.4(TCTN2): c.1877T> A (p.Leu626Ter)SNVPathogenicrs786204788GRCh37Chr 12, 124191380: 124191380
6KIAA0586NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs)deletionPathogenicrs534542684GRCh38Chr 14, 58432439: 58432439
7KIAA0586NM_001244189.1(KIAA0586): c.1413-1G> CSNVPathogenicrs757350052GRCh38Chr 14, 58456701: 58456701
8KIAA0586NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter)SNVPathogenicrs796052128GRCh37Chr 14, 58917335: 58917335
9KIAA0586NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs)deletionPathogenicrs770566897GRCh38Chr 14, 58444072: 58444073
10KIAA0586NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val)SNVPathogenicrs796052129GRCh37Chr 14, 58924652: 58924652
11CEP290NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs)deletionPathogenicrs863224523GRCh38Chr 12, 88086416: 88086417
12TMEM67NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)SNVLikely pathogenic, Pathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
13AHI1NM_001134831.1(AHI1): c.1267C> T (p.Gln423Ter)SNVPathogenicrs777668842GRCh38Chr 6, 135455811: 135455811
14B9D1NM_015681.4(B9D1): c.285C> A (p.Phe95Leu)SNVPathogenicrs373478202GRCh37Chr 17, 19251153: 19251153
15B9D1NM_015681.4(B9D1): c.466C> T (p.Arg156Trp)SNVPathogenicrs369488112GRCh38Chr 17, 19343796: 19343796
16B9D1NM_015681.4(B9D1): c.95A> G (p.Tyr32Cys)SNVPathogenicrs771170000GRCh37Chr 17, 19263670: 19263670
17B9D2NM_030578.3(B9D2): c.463G> A (p.Gly155Ser)SNVPathogenicrs750436680GRCh37Chr 19, 41860670: 41860670
18B9D2NM_030578.3(B9D2): c.107T> C (p.Leu36Pro)SNVPathogenicrs757863670GRCh37Chr 19, 41863909: 41863909
19B9D2NM_030578.3(B9D2): c.220C> T (p.Pro74Ser)SNVPathogenicrs863225150GRCh38Chr 19, 41355008: 41355008
20C2CD3NM_001286577.1(C2CD3): c.4951+1G> TSNVPathogenicrs863225151GRCh38Chr 11, 74074252: 74074252
21C2CD3NM_001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu)SNVPathogenicrs150291837GRCh38Chr 11, 74049431: 74049431
22CC2D2ANM_001080522.2(CC2D2A): c.4667A> T (p.Asp1556Val)SNVPathogenicrs201502401GRCh37Chr 4, 15601322: 15601322
23INPP5ENM_019892.5(INPP5E): c.907G> A (p.Val303Met)SNVPathogenicrs746212325GRCh38Chr 9, 136434769: 136434769
24INPP5ENM_019892.5(INPP5E): c.1684A> G (p.Ser562Gly)SNVPathogenicrs863225197GRCh38Chr 9, 136430395: 136430395
25INPP5ENM_019892.5(INPP5E): c.1064C> T (p.Thr355Met)SNVPathogenicrs863225198GRCh38Chr 9, 136433250: 136433250
26INPP5ENM_019892.5(INPP5E): c.1760delT (p.Val587Glyfs)deletionPathogenicrs775518991GRCh38Chr 9, 136430319: 136430319
27INPP5ENM_019892.5(INPP5E): c.1754G> A (p.Arg585His)SNVPathogenicrs752300607GRCh38Chr 9, 136430325: 136430325
28INPP5ENM_019892.5(INPP5E): c.1897_1898delCA (p.Gln633Glufs)deletionPathogenicrs863225199GRCh38Chr 9, 136429712: 136429713
29INPP5ENM_019892.5(INPP5E): c.1154G> A (p.Cys385Tyr)SNVPathogenicrs863225200GRCh38Chr 9, 136433160: 136433160
30INPP5ENM_019892.5(INPP5E): c.1577C> T (p.Pro526Leu)SNVPathogenicrs746867724GRCh38Chr 9, 136431090: 136431090
31INPP5ENM_019892.5(INPP5E): c.1021G> A (p.Gly341Ser)SNVPathogenicrs780882740GRCh38Chr 9, 136434050: 136434050
32INPP5ENM_019892.5(INPP5E): c.944C> T (p.Pro315Leu)SNVPathogenicrs754637179GRCh38Chr 9, 136434127: 136434127
33INPP5ENM_019892.5(INPP5E): c.1162G> T (p.Val388Leu)SNVPathogenicrs863225201GRCh38Chr 9, 136433073: 136433073
34INPP5ENM_019892.5(INPP5E): c.1249T> C (p.Ser417Pro)SNVPathogenicrs863225202GRCh38Chr 9, 136432986: 136432986
35INPP5ENM_019892.5(INPP5E): c.1468G> T (p.Asp490Tyr)SNVPathogenicrs757222534GRCh38Chr 9, 136431905: 136431905
36KIAA0586NM_001244189.1(KIAA0586): c.1430_1433delAGCTinsGA (p.Glu477Glyfs)indelPathogenicrs869312856GRCh38Chr 14, 58456719: 58456722
37KIAA0586NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=)SNVPathogenicrs540255320GRCh38Chr 14, 58482712: 58482712
38KIAA0586NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs)deletionPathogenicrs863225203GRCh38Chr 14, 58457967: 58457971
39KIAA0586NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter)SNVPathogenicrs201097695GRCh37Chr 14, 58910729: 58910729
40MKS1NM_017777.3(MKS1): c.1208C> T (p.Ser403Leu)SNVPathogenicrs773684291GRCh37Chr 17, 56285320: 56285320
41MKS1NM_017777.3(MKS1): c.1528dupC (p.Arg510Profs)duplicationPathogenicrs863225204GRCh37Chr 17, 56283704: 56283704
42MKS1NM_017777.3(MKS1): c.262-179_262-37deldeletionPathogenicGRCh37Chr 17, 56293641: 56293783
43MKS1NM_017777.3(MKS1): c.55G> T (p.Asp19Tyr)SNVPathogenicrs863225205GRCh37Chr 17, 56296537: 56296537
44MKS1NM_017777.3(MKS1): c.381delC (p.Tyr128Thrfs)deletionPathogenicrs863225206GRCh37Chr 17, 56293485: 56293485
45MKS1NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)deletionPathogenicrs754279998GRCh37Chr 17, 56285514: 56285516
46MKS1NM_017777.3(MKS1): c.1589-2A> TSNVPathogenicrs863225207GRCh37Chr 17, 56283533: 56283533
47MKS1NM_017777.3(MKS1): c.950G> A (p.Gly317Glu)SNVPathogenicrs863225208GRCh37Chr 17, 56288349: 56288349
48MKS1NM_001165927.1(MKS1): c.737_738insC (p.Glu246Aspfs)insertionPathogenicrs863225209GRCh37Chr 17, 56290433: 56290434
49MKS1NM_001165927.1(MKS1): c.1231C> T (p.Pro411Ser)SNVPathogenicrs863225210GRCh37Chr 17, 56285267: 56285267
50TCTN2NM_024809.4(TCTN2): c.1117G> A (p.Gly373Arg)SNVPathogenicrs187433682GRCh37Chr 12, 124179406: 124179406
51TCTN2NM_024809.4(TCTN2): c.1626delT (p.Asp543Ilefs)deletionPathogenicrs863225220GRCh37Chr 12, 124189092: 124189092
52TCTN2NM_024809.4(TCTN2): c.1751T> A (p.Ile584Lys)SNVPathogenicrs201010803GRCh37Chr 12, 124189217: 124189217
53TCTN2NM_024809.4(TCTN2): c.1291G> T (p.Glu431Ter)SNVPathogenicrs863225221GRCh37Chr 12, 124179823: 124179823
54TCTN2NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs)duplicationPathogenicrs863225222GRCh37Chr 12, 124155863: 124155863
55TCTN2NM_024809.4(TCTN2): c.71delG (p.Asp26Thrfs)deletionPathogenicrs863225223GRCh37Chr 12, 124155858: 124155858
56TCTN2NM_024809.4(TCTN2): c.613G> T (p.Gly205Cys)SNVPathogenicrs201827132GRCh37Chr 12, 124171431: 124171431
57KIAA0556NM_015202.3(KIAA0556): c.2674C> T (p.Gln892Ter)SNVLikely pathogenic, Pathogenicrs864309712GRCh37Chr 16, 27760955: 27760955
58CC2D2ANM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter)SNVPathogenicrs375278294GRCh37Chr 4, 15575830: 15575830
59RPGRIP1LNM_015272.4(RPGRIP1L): c.1120delC (p.His374Metfs)deletionPathogenicrs878855006GRCh37Chr 16, 53698905: 53698905
60CEP41NM_018718.2(CEP41): c.107T> C (p.Met36Thr)SNVPathogenicrs368178632GRCh37Chr 7, 130056798: 130056798
61TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)SNVPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
62KIAA0586NM_001244189.1(KIAA0586): c.949C> T (p.Gln317Ter)SNVPathogenicGRCh38Chr 14, 58444158: 58444158
63INPP5ENM_019892.5(INPP5E): c.1543C> T (p.Arg515Trp)SNVPathogenicrs13297509GRCh37Chr 9, 139326282: 139326282
64INPP5ENM_019892.5(INPP5E): c.1688G> A (p.Arg563His)SNVPathogenicrs121918128GRCh37Chr 9, 139324843: 139324843
65INPP5ENM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln)SNVPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
66INPP5ENM_019892.5(INPP5E): c.1132C> T (p.Arg378Cys)SNVPathogenicrs121918130GRCh37Chr 9, 139327634: 139327634
67MKS1NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs)duplicationLikely pathogenic, Pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
68CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenic, Pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
69CC2D2ANM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)SNVPathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
70IFT172NM_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 11)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445111.2C2CD3, CEP290
2ciliary membraneGO:006017011.1ARL13B, TCTN2, TMEM67
3axonemeGO:000593011.0ARL13B, IFT172, INPP5E, RPGRIP1L
4cytoskeletonGO:000585611.0CC2D2A, INPP5E, KIAA0556, TCTN1, TCTN2
5ciliumGO:000592910.9AHI1, ARL13B, CEP41, IFT172, RPGRIP1L
6centrioleGO:000581410.9AHI1, C2CD3, CEP290, CEP41, KIAA0586, MKS1
7ciliary transition zoneGO:003586910.7B9D1, C5orf42, CC2D2A, CEP290, MKS1, RPGRIP1L
8ciliary basal bodyGO:003606410.7AHI1, B9D1, B9D2, C2CD3, CEP290, CEP41
9centrosomeGO:000581310.6AHI1, B9D1, B9D2, C2CD3, CEP290, CEP41
10cytosolGO:000582910.1AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
11MKS complexGO:003603810.0AHI1, 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
1embryonic brain developmentGO:199040311.0CC2D2A, MKS1
2head developmentGO:006032211.0MKS1, RPGRIP1L
3hindbrain developmentGO:003090211.0AHI1, CEP290
4camera-type eye developmentGO:004301011.0B9D1, CC2D2A, RPGRIP1L
5establishment of planar polarityGO:000173611.0C5orf42, RPGRIP1L
6regulation of establishment of protein localizationGO:007020110.9CEP290, KIAA0586
7embryonic digit morphogenesisGO:004273310.9B9D1, C2CD3, C5orf42, MKS1
8neural tube patterningGO:002153210.9ARL13B, RPGRIP1L
9left/right axis specificationGO:007098610.9AHI1, ARL13B, IFT172
10heart loopingGO:000194710.9AHI1, ARL13B, C2CD3, IFT172
11neural tube closureGO:000184310.9CC2D2A, IFT172, MKS1
12determination of left/right symmetryGO:000736810.8ARL13B, CC2D2A, IFT172, MKS1, RPGRIP1L
13in utero embryonic developmentGO:000170110.8B9D1, C2CD3, RPGRIP1L, TCTN1
14protein localization to ciliary transition zoneGO:190449110.8C5orf42, CC2D2A, TCTN1
15regulation of smoothened signaling pathwayGO:000858910.7C2CD3, IFT172, MKS1, RPGRIP1L, TCTN1
16smoothened signaling pathwayGO:000722410.5ARL13B, B9D1, CC2D2A, IFT172, KIAA0586, TCTN2
17telencephalon developmentGO:002153710.3RPGRIP1L, TCTN1
18cilium assemblyGO:006027110.2AHI1, ARL13B, B9D1, B9D2, C2CD3, C5orf42

Sources for Joubert Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet