MCID: JBR020
MIFTS: 60

Joubert Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases categories

Aliases & Classifications for Joubert Syndrome 1

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Aliases & Descriptions for Joubert Syndrome 1:

Name: Joubert Syndrome 1 49 11 45 24 67
Joubert Syndrome 49 10 68 45 23 46 12 51 67
Cerebellooculorenal Syndrome 1 45 23 67
Familial Aplasia of the Vermis 23 24 65
Joubert-Boltshauser Syndrome 45 51 67
Jbts 10 23 67
Cerebelloparenchymal Disorder Iv 51 67
Cors1 45 67
Jbts1 45 67
Cpd4 45 67
Cerebello-Oculo-Renal Syndrome 1 67
Cerebelloparenchymal Disorder 4 45
 
Cerebello-Oculo-Renal Syndrome 23
Agenesis of Cerebellar Vermis 23
Joubert-Bolthauser Syndrome 23
Cerebellar Vermis Agenesis 45
Classic Joubert Syndrome 51
Joubert Syndrome Type a 51
Pure Joubert Syndrome 51
Joubert Syndrome 23 67
Jbts23 67
Cpd Iv 51
Cors 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
joubert syndrome:
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal


External Ids:

Disease Ontology10 DOID:0050777
Orphanet51 475
ICD10 via Orphanet28 Q04.3

Summaries for Joubert Syndrome 1

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OMIM:49 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 with oculorenal anomalies and coach syndrome, 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 liver, and related mouse phenotypes are skeleton and digestive/alimentary.

Disease Ontology:10 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:23 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:45 Joubert syndrome is a disorder that affects many parts of the body.  the signs and symptoms vary among affected individuals, even among members of the same family.  the hallmark feature of joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (mri).  most infants with joubert syndrome have weak muscle tone (hypotonia), episodes of unusually fast or slow breathing (hyperpnoea) and abnormal eye movements.  individuals with joubert syndrome can have delayed development and mild to severe intellectual disabilities.   distinctive facial features are also characteristic of joubert syndrome.  mutations in one of 10 known genes have been found in about half of all cases with joubert syndrome and related disorders.  in the remaining cases, the genetic cause is unknown.  this condition typically has an autosomal recessive pattern of inheritance.  rare cases of joubert syndrome are inherited in an x-linked recessive pattern. last updated: 8/19/2011

NINDS:46 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

UniProtKB/Swiss-Prot:67 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.

Description from OMIM:49 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 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

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

(show top 50)    (show all 378)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome with oculorenal anomalies31.2AHI1, CEP41, INPP5E, MKS1
2coach syndrome31.2CC2D2A, RPGRIP1L, TMEM67
3joubert syndrome with renal anomalies30.9CC2D2A, CEP290, INPP5E, NPHP4, RPGRIP1L, TMEM216
4nephronophthisis 1, juvenile30.5AHI1, NPHP1, NPHP4
5arteriosclerosis30.4AHI1, C5orf42, CC2D2A, INPP5E, NPHP1, TMEM216
6cor triatriatum11.2
7cor triatriatum sinister10.8
8cor triatriatum dexter10.8
9acute cor pulmonale10.8
10joubert syndrome and related disorders10.7
11pulmonary hypertension10.6
12joubert syndrome 210.6
13joubert syndrome 610.5
14joubert syndrome 510.5
15joubert syndrome 1010.5
16cor biloculare10.5
17nephronophthisis10.5
18ciliopathy10.5
19atrial fibrillation10.5
20joubert syndrome 410.5
21joubert syndrome 1410.5
22joubert syndrome 1510.5
23joubert syndrome 1810.5
24joubert syndrome 1610.5
25pulmonary embolism10.5
26joubert syndrome 810.5
27joubert syndrome 910.5
28joubert syndrome 1710.5
29joubert syndrome 1310.5
30nephronophthisis 1410.5
31joubert syndrome 710.5
32joubert syndrome 2010.5
33joubert syndrome with ocular anomalies10.5
34isolated cerebellar vermis agenesis10.5
35isolated partial cerebellar vermis agenesis10.5
36isolated total cerebellar vermis agenesis10.5
37joubert syndrome 2110.4
38cystic fibrosis10.4
39congenital heart disease10.4
40joubert syndrome 2210.4
41joubert syndrome-310.4
42acrocallosal syndrome10.4
43cc2d2a-related joubert syndrome10.4
44tetralogy of fallot10.3
45bronchitis10.3
46obstructive lung disease10.3
47cerebrofacial arteriovenous metameric syndrome type 110.3CC2D2A, INPP5E, RPGRIP1L, TMEM67
48bardet-biedl syndrome 1410.3CEP290, TMEM67
49juberg-hayward syndrome10.3NPHP1, RPGRIP1L, TMEM237
50coloboma10.3

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



Diseases related to joubert syndrome 1

Symptoms for Joubert Syndrome 1

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Symptoms by clinical synopsis from OMIM:

213300

Clinical features from OMIM:

213300,616490

Symptoms:

 51 (show all 35)
  • oculomotor apraxia/dyspraxia
  • respiratory rhythm disorder
  • apnea/sleep apnea
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • narrow forehead
  • long face
  • nystagmus
  • abnormal gait
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • coloboma of iris
  • strabismus/squint
  • high arched eyebrows
  • ptosis
  • high nasal bridge
  • anteverted nares/nostrils
  • cleft lip and palate
  • low set ears/posteriorly rotated ears
  • anomalies of spine, vertebrae and pelvis
  • scoliosis
  • upper limb polydactyly/hexadactyly
  • polydactyly of toes
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • encephalocele/exencephaly
  • hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • tremor
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Joubert Syndrome 1:

(show all 81)
id Description Frequency HPO Source Accession
1 oculomotor apraxia hallmark (90%) HP:0000657
2 muscular hypotonia hallmark (90%) HP:0001252
3 apnea hallmark (90%) HP:0002104
4 incoordination hallmark (90%) HP:0002311
5 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
6 cognitive impairment hallmark (90%) HP:0100543
7 long face typical (50%) HP:0000276
8 narrow forehead typical (50%) HP:0000341
9 nystagmus typical (50%) HP:0000639
10 gait disturbance typical (50%) HP:0001288
11 oral cleft occasional (7.5%) HP:0000202
12 hydrocephalus occasional (7.5%) HP:0000238
13 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
14 prominent nasal bridge occasional (7.5%) HP:0000426
15 anteverted nares occasional (7.5%) HP:0000463
16 strabismus occasional (7.5%) HP:0000486
17 ptosis occasional (7.5%) HP:0000508
18 iris coloboma occasional (7.5%) HP:0000612
19 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
20 hand polydactyly occasional (7.5%) HP:0001161
21 seizures occasional (7.5%) HP:0001250
22 tremor occasional (7.5%) HP:0001337
23 situs inversus totalis occasional (7.5%) HP:0001696
24 foot polydactyly occasional (7.5%) HP:0001829
25 encephalocele occasional (7.5%) HP:0002084
26 aganglionic megacolon occasional (7.5%) HP:0002251
27 abnormality of neuronal migration occasional (7.5%) HP:0002269
28 highly arched eyebrow occasional (7.5%) HP:0002553
29 scoliosis occasional (7.5%) HP:0002650
30 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
31 coloboma rare (5%) HP:0000589
32 dysplastic corpus callosum rare (5%) HP:0006989
33 cerebellar dysplasia rare (5%) HP:0007033
34 polydactyly rare (5%) HP:0010442
35 autosomal recessive inheritance HP:0000007
36 renal cyst HP:0000107
37 macroglossia HP:0000158
38 macrocephaly HP:0000256
39 epicanthus HP:0000286
40 low-set ears HP:0000369
41 anteverted nares HP:0000463
42 ptosis HP:0000508
43 retinal dystrophy HP:0000556
44 chorioretinal coloboma HP:0000567
45 abnormality of saccadic eye movements HP:0000570
46 optic nerve coloboma HP:0000588
47 oculomotor apraxia HP:0000657
48 aggressive behavior HP:0000718
49 self-mutilation HP:0000742
50 hyperactivity HP:0000752
51 postaxial hand polydactyly HP:0001162
52 intellectual disability HP:0001249
53 ataxia HP:0001251
54 muscular hypotonia HP:0001252
55 global developmental delay HP:0001263
56 cerebellar vermis hypoplasia HP:0001320
57 hepatic fibrosis HP:0001395
58 heterogeneous HP:0001425
59 abnormality of the foot HP:0001760
60 dysgenesis of the cerebellar vermis HP:0002195
61 agenesis of cerebellar vermis HP:0002335
62 hypoplasia of the brainstem HP:0002365
63 molar tooth sign on mri HP:0002419
64 brainstem dysplasia HP:0002508
65 highly arched eyebrow HP:0002553
66 neonatal breathing dysregulation HP:0002790
67 central apnea HP:0002871
68 episodic tachypnea HP:0002876
69 phenotypic variability HP:0003812
70 occipital myelomeningocele HP:0007271
71 impaired smooth pursuit HP:0007772
72 retinal dysplasia HP:0007973
73 protruding tongue HP:0010808
74 hemifacial spasm HP:0010828
75 prominent forehead HP:0011220
76 elongated superior cerebellar peduncle HP:0011933
77 enlarged fossa interpeduncularis HP:0100951
78 triangular-shaped open mouth HP:0200096
79 abnormality of eye movement HP:0000496
80 apnea HP:0002104
81 tachypnea HP:0002789

Drugs & Therapeutics for Joubert Syndrome 1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavanutraceuticalPhase 41239000-38-85281052
2ViscosupplementsPhase 2220

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
7Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
8UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

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 Vermis24
2 Joubert Syndrome 124

Anatomical Context for Joubert Syndrome 1

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MalaCards organs/tissues related to Joubert Syndrome 1:

33
Brain, Eye, Liver, Hypothalamus, Cerebellum, Pituitary, Heart

Animal Models for Joubert Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Joubert Syndrome 1:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.2B9D1, CEP290, IFT172, INPP5E, KIAA0586, MKS1
2MP:000538110.2B9D1, CC2D2A, IFT172, INPP5E, MKS1, TCTN2
3MP:000538210.0B9D1, CC2D2A, CEP290, IFT172, INPP5E, KIAA0586
4MP:000537110.0B9D1, CC2D2A, IFT172, INPP5E, KIAA0586, MKS1
5MP:00053849.8AHI1, CC2D2A, CEP290, IFT172, INPP5E, KIAA0586
6MP:00053679.7AHI1, B9D1, CC2D2A, CEP290, IFT172, INPP5E
7MP:00053859.6B9D1, CC2D2A, CEP290, CEP41, IFT172, KIAA0586
8MP:00053809.6ARL13B, B9D1, CC2D2A, CEP41, IFT172, INPP5E
9MP:00053789.5AHI1, ARL13B, B9D1, CC2D2A, CEP290, INPP5E
10MP:00107689.5AHI1, ARL13B, B9D1, CC2D2A, CEP41, IFT172
11MP:00053919.3AHI1, B9D1, CC2D2A, CEP290, CEP41, IFT172
12MP:00036319.1AHI1, ARL13B, B9D1, CC2D2A, CEP290, CEP41

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:

67
id Symbol AA change Variation ID SNP ID
1INPP5Ep.Arg378CysVAR_063012
2INPP5Ep.Arg435GlnVAR_063013
3INPP5Ep.Arg512TrpVAR_063014
4INPP5Ep.Arg515TrpVAR_063015
5INPP5Ep.Arg563HisVAR_063016
6INPP5Ep.Lys580GluVAR_063017

Clinvar genetic disease variations for Joubert Syndrome 1:

5 (show all 120)
id Gene Variation Type Significance SNP ID Assembly Location
1RPGRIP1LNM_015272.3(RPGRIP1L): c.685G> A (p.Ala229Thr)single nucleotide variantPathogenic, risk factorrs61747071GRCh37Chr 16, 53720436: 53720436
2TMEM67NM_153704.5(TMEM67): c.2315_2322+5del13insGGindelPathogenicGRCh37Chr 8, 94815905: 94815917
3TMEM67TMEM67, IVS23+5G-Csingle nucleotide variantPathogenic
4TMEM67NM_001142301.1(TMEM67): c.1391G> A (p.Gly464Glu)single nucleotide variantPathogenicrs267607114GRCh37Chr 8, 94805484: 94805484
5TMEM67NM_153704.5(TMEM67): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs267607118GRCh37Chr 8, 94767272: 94767272
6TMEM67NM_153704.5(TMEM67): c.755T> C (p.Met252Thr)single nucleotide variantPathogenicrs202149403GRCh37Chr 8, 94792861: 94792861
7MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)single nucleotide variantLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
8CC2D2ANM_001080522.2(CC2D2A): c.1017+1G> Asingle nucleotide variantPathogenicrs200407856GRCh37Chr 4, 15517628: 15517628
9RPGRIP1LNM_015272.3(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)duplicationPathogenicrs778149316GRCh38Chr 16, 53652978: 53652978
10RPGRIP1LNM_015272.3(RPGRIP1L): c.230+1G> Asingle nucleotide variantLikely pathogenicrs786204135GRCh38Chr 16, 53696150: 53696150
11B9D2NM_030578.3(B9D2): c.156_163delGGACATGG (p.Asp53Leufs)deletionLikely pathogenicrs786204189GRCh38Chr 19, 41357948: 41357955
12C5orf42NM_023073.3(C5orf42): c.1819dupT (p.Tyr607Leufs)duplicationPathogenicrs797044640GRCh37Chr 5, 37226878: 37226878
13C5orf42NM_023073.3(C5orf42): c.8300-1G> Csingle nucleotide variantLikely pathogenicrs151279194GRCh37Chr 5, 37142583: 37142583
14C5orf42NM_023073.3(C5orf42): c.8923delT (p.Ser2975Leufs)deletionPathogenicrs794727691GRCh37Chr 5, 37121819: 37121819
15ARL13BNM_182896.2(ARL13B): c.236G> A (p.Arg79Gln)single nucleotide variantPathogenicrs121912606GRCh37Chr 3, 93722608: 93722608
16ARL13BNM_182896.2(ARL13B): c.246G> A (p.Trp82Ter)single nucleotide variantPathogenicrs121912607GRCh37Chr 3, 93722618: 93722618
17ARL13BNM_182896.2(ARL13B): c.598C> T (p.Arg200Cys)single nucleotide variantPathogenicrs121912608GRCh37Chr 3, 93755507: 93755507
18KIAA0586NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs)deletionPathogenicrs534542684GRCh38Chr 14, 58432439: 58432439
19KIAA0586NM_001244189.1(KIAA0586): c.1413-1G> Csingle nucleotide variantPathogenicrs757350052GRCh38Chr 14, 58456701: 58456701
20KIAA0586NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter)single nucleotide variantPathogenicrs796052128GRCh37Chr 14, 58917335: 58917335
21KIAA0586NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs)deletionPathogenicrs770566897GRCh38Chr 14, 58444072: 58444073
22KIAA0586NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val)single nucleotide variantPathogenicrs796052129GRCh37Chr 14, 58924652: 58924652
23TCTN1NM_001082538.2(TCTN1): c.843+1deldeletionPathogenicrs797046039GRCh38Chr 12, 110636502: 110636502
24CEP290NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs)deletionPathogenicGRCh38Chr 12, 88086416: 88086417
25TMEM67NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)single nucleotide variantPathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
26ARL13BNM_182896.2(ARL13B): c.65T> G (p.Val22Gly)single nucleotide variantPathogenicGRCh38Chr 3, 93995879: 93995879
27ARL13BNM_182896.2(ARL13B): c.461A> G (p.Asn154Ser)single nucleotide variantPathogenicrs758972393GRCh37Chr 3, 93754255: 93754255
28C5orf42NM_023073.3(C5orf42): c.8725delG (p.Ala2909Glnfs)deletionPathogenicrs770758833GRCh38Chr 5, 37125315: 37125315
29C5orf42NM_023073.3(C5orf42): c.8167C> T (p.Gln2723Ter)single nucleotide variantPathogenicGRCh38Chr 5, 37153784: 37153784
30C5orf42NM_023073.3(C5orf42): c.8716G> T (p.Glu2906Ter)single nucleotide variantPathogenicGRCh38Chr 5, 37125324: 37125324
31C5orf42NM_023073.3(C5orf42): c.8855+1G> Asingle nucleotide variantPathogenicGRCh38Chr 5, 37122429: 37122429
32C5orf42NM_023073.3(C5orf42): c.8263_8264insG (p.Thr2755Serfs)insertionPathogenicGRCh38Chr 5, 37148216: 37148217
33C5orf42NM_023073.3(C5orf42): c.7978C> T (p.Arg2660Ter)single nucleotide variantPathogenicrs147416429GRCh38Chr 5, 37153973: 37153973
34C5orf42NM_023073.3(C5orf42): c.8608G> T (p.Glu2870Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37138844: 37138844
35C5orf42NM_023073.3(C5orf42): c.7190delC (p.Pro2397Glnfs)deletionPathogenicGRCh37Chr 5, 37168936: 37168936
36C5orf42NM_023073.3(C5orf42): c.9058C> T (p.Arg3020Ter)single nucleotide variantPathogenicrs374144275GRCh38Chr 5, 37120306: 37120306
37C5orf42NM_023073.3(C5orf42): c.8263dupA (p.Thr2755Asnfs)duplicationPathogenicGRCh37Chr 5, 37148319: 37148319
38C5orf42NM_023073.3(C5orf42): c.8710C> T (p.Arg2904Ter)single nucleotide variantPathogenicrs141507441GRCh38Chr 5, 37125330: 37125330
39C5orf42NM_023073.3(C5orf42): c.3636_3637delAT (p.Leu1213Alafs)deletionPathogenicGRCh38Chr 5, 37198737: 37198738
40C5orf42NM_023073.3(C5orf42): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicGRCh38Chr 5, 37226320: 37226320
41C5orf42NM_023073.3(C5orf42): c.7778G> A (p.Trp2593Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37158360: 37158360
42C5orf42NM_023073.3(C5orf42): c.7817T> A (p.Leu2606Ter)single nucleotide variantPathogenicrs749523755GRCh37Chr 5, 37157912: 37157912
43C5orf42NM_023073.3(C5orf42): c.510dupT (p.Leu171Serfs)duplicationPathogenicGRCh37Chr 5, 37244537: 37244537
44C5orf42NM_023073.3(C5orf42): c.3130_3131insA (p.Arg1044Glnfs)insertionPathogenicGRCh38Chr 5, 37206215: 37206216
45C5orf42NM_023073.3(C5orf42): c.510delT (p.Leu171Serfs)deletionPathogenicrs779680371GRCh38Chr 5, 37244435: 37244435
46C5orf42NM_023073.3(C5orf42): c.6269_6270delTG (p.Val2090Alafs)deletionPathogenicrs768675259GRCh38Chr 5, 37170233: 37170234
47C5orf42NM_023073.3(C5orf42): c.1784T> G (p.Leu595Ter)single nucleotide variantPathogenicrs530569572GRCh38Chr 5, 37226811: 37226811
48C5orf42NM_023073.3(C5orf42): c.3007G> T (p.Glu1003Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37206441: 37206441
49C5orf42NM_023073.3(C5orf42): c.2999G> T (p.Trp1000Leu)single nucleotide variantPathogenicrs773362418GRCh37Chr 5, 37206449: 37206449
50C5orf42NM_023073.3(C5orf42): c.2377C> T (p.Gln793Ter)single nucleotide variantPathogenicrs776886962GRCh37Chr 5, 37224757: 37224757
51C5orf42NM_023073.3(C5orf42): c.2353C> T (p.Arg785Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37224781: 37224781
52C5orf42NM_023073.3(C5orf42): c.2709G> A (p.Trp903Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37221463: 37221463
53C5orf42NM_023073.3(C5orf42): c.2831G> A (p.Arg944His)single nucleotide variantPathogenicGRCh37Chr 5, 37213750: 37213750
54C5orf42NM_023073.3(C5orf42): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicGRCh37Chr 5, 37206525: 37206525
55C5orf42NM_023073.3(C5orf42): c.8855+1G> Tsingle nucleotide variantPathogenicGRCh38Chr 5, 37122429: 37122429
56C5orf42NM_023073.3(C5orf42): c.2611C> T (p.Arg871Cys)single nucleotide variantPathogenicrs760906097GRCh37Chr 5, 37221561: 37221561
57C5orf42NM_023073.3(C5orf42): c.1819delT (p.Tyr607Thrfs)deletionPathogenicrs777686211GRCh38Chr 5, 37226776: 37226776
58C5orf42NM_023073.3(C5orf42): c.3599C> T (p.Ala1200Val)single nucleotide variantPathogenicrs141153181GRCh37Chr 5, 37198877: 37198877
59C5orf42NM_023073.3(C5orf42): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs756856188GRCh37Chr 5, 37244623: 37244623
60C5orf42NM_023073.3(C5orf42): c.817A> C (p.Asn273His)single nucleotide variantPathogenicGRCh37Chr 5, 37239832: 37239832
61INPP5ENM_019892.4(INPP5E): c.907G> A (p.Val303Met)single nucleotide variantPathogenicrs746212325GRCh38Chr 9, 136434769: 136434769
62INPP5ENM_019892.4(INPP5E): c.1684A> G (p.Ser562Gly)single nucleotide variantPathogenicGRCh38Chr 9, 136430395: 136430395
63INPP5ENM_019892.4(INPP5E): c.1064C> T (p.Thr355Met)single nucleotide variantPathogenicGRCh38Chr 9, 136433250: 136433250
64INPP5ENM_019892.4(INPP5E): c.1760delT (p.Val587Glyfs)deletionPathogenicrs775518991GRCh38Chr 9, 136430319: 136430319
65INPP5ENM_019892.4(INPP5E): c.1754G> A (p.Arg585His)single nucleotide variantPathogenicrs752300607GRCh38Chr 9, 136430325: 136430325
66INPP5ENM_019892.4(INPP5E): c.1897_1898delCA (p.Gln633Glufs)deletionPathogenicGRCh38Chr 9, 136429712: 136429713
67INPP5ENM_019892.4(INPP5E): c.1154G> A (p.Cys385Tyr)single nucleotide variantPathogenicGRCh38Chr 9, 136433160: 136433160
68INPP5ENM_019892.4(INPP5E): c.1577C> T (p.Pro526Leu)single nucleotide variantPathogenicrs746867724GRCh38Chr 9, 136431090: 136431090
69INPP5ENM_019892.4(INPP5E): c.1021G> A (p.Gly341Ser)single nucleotide variantPathogenicrs780882740GRCh38Chr 9, 136434050: 136434050
70INPP5ENM_019892.4(INPP5E): c.944C> T (p.Pro315Leu)single nucleotide variantPathogenicrs754637179GRCh38Chr 9, 136434127: 136434127
71INPP5ENM_019892.4(INPP5E): c.1162G> T (p.Val388Leu)single nucleotide variantPathogenicGRCh38Chr 9, 136433073: 136433073
72INPP5ENM_019892.4(INPP5E): c.1249T> C (p.Ser417Pro)single nucleotide variantPathogenicGRCh38Chr 9, 136432986: 136432986
73INPP5ENM_019892.4(INPP5E): c.1468G> T (p.Asp490Tyr)single nucleotide variantPathogenicrs757222534GRCh38Chr 9, 136431905: 136431905
74KIAA0586NM_001244189.1(KIAA0586): c.1430_1434delAGCTAinsGAA (p.Glu477Glyfs)indelPathogenicGRCh38Chr 14, 58456719: 58456723
75KIAA0586NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=)single nucleotide variantPathogenicrs540255320GRCh38Chr 14, 58482712: 58482712
76KIAA0586NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs)deletionPathogenicGRCh38Chr 14, 58457967: 58457971
77KIAA0586NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter)single nucleotide variantPathogenicrs201097695GRCh37Chr 14, 58910729: 58910729
78TMEM67NM_153704.5(TMEM67): c.1674+3A> Gsingle nucleotide variantPathogenicGRCh38Chr 8, 93793299: 93793299
79TMEM67NM_153704.5(TMEM67): c.1911C> A (p.Phe637Leu)single nucleotide variantPathogenicGRCh37Chr 8, 94809412: 94809412
80TMEM67NM_153704.5(TMEM67): c.389C> G (p.Pro130Arg)single nucleotide variantPathogenicGRCh38Chr 8, 93758559: 93758559
81TMEM67NM_153704.5(TMEM67): c.769A> G (p.Met257Val)single nucleotide variantPathogenicGRCh38Chr 8, 93780647: 93780647
82TMEM67NM_153704.5(TMEM67): c.978+3A> Gsingle nucleotide variantPathogenicrs775256658GRCh38Chr 8, 93780985: 93780985
83TMEM67NM_153704.5(TMEM67): c.300C> A (p.Cys100Ter)single nucleotide variantPathogenicrs751309268GRCh38Chr 8, 93755854: 93755854
84TMEM67NM_153704.5(TMEM67): c.1453C> T (p.Pro485Ser)single nucleotide variantPathogenicGRCh38Chr 8, 93787884: 93787884
85TMEM67NM_153704.5(TMEM67): c.245C> G (p.Pro82Arg)single nucleotide variantPathogenicrs772437766GRCh38Chr 8, 93755799: 93755799
86TMEM67NM_153704.5(TMEM67): c.244C> T (p.Pro82Ser)single nucleotide variantPathogenicrs762543032GRCh38Chr 8, 93755798: 93755798
87TMEM67NM_153704.5(TMEM67): c.730A> G (p.Thr244Ala)single nucleotide variantPathogenicGRCh38Chr 8, 93780608: 93780608
88TMEM67NM_153704.5(TMEM67): c.2290C> T (p.Arg764Ter)single nucleotide variantPathogenicrs751517725GRCh38Chr 8, 93803652: 93803652
89TMEM67NM_153704.5(TMEM67): c.2368C> A (p.His790Asn)single nucleotide variantPathogenicGRCh38Chr 8, 93804807: 93804807
90TMEM67NM_153704.5(TMEM67): c.1126C> G (p.Gln376Glu)single nucleotide variantPathogenicGRCh38Chr 8, 93782455: 93782455
91TMEM67NM_153704.5(TMEM67): c.1073C> T (p.Pro358Leu)single nucleotide variantPathogenicGRCh38Chr 8, 93782402: 93782402
92TMEM67NM_153704.5(TMEM67): c.515G> A (p.Arg172Gln)single nucleotide variantPathogenicrs750950408GRCh38Chr 8, 93765414: 93765414
93TMEM67NM_153704.5(TMEM67): c.2825T> G (p.Phe942Cys)single nucleotide variantPathogenicGRCh38Chr 8, 93815365: 93815365
94TMEM67NM_153704.5(TMEM67): c.2522A> C (p.Gln841Pro)single nucleotide variantPathogenicGRCh38Chr 8, 93808922: 93808922
95TMEM67NM_153704.5(TMEM67): c.1351C> T (p.Arg451Ter)single nucleotide variantPathogenicrs116647652GRCh38Chr 8, 93786285: 93786285
96TMEM67NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys)single nucleotide variantPathogenicrs752362727GRCh38Chr 8, 93786255: 93786255
97TMEM67NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys)single nucleotide variantPathogenicGRCh38Chr 8, 93782444: 93782444
98TMEM67NM_153704.5(TMEM67): c.2801G> A (p.Gly934Glu)single nucleotide variantPathogenicGRCh38Chr 8, 93815341: 93815341
99TMEM67NM_153704.5(TMEM67): c.1081G> T (p.Glu361Ter)single nucleotide variantPathogenicGRCh38Chr 8, 93782410: 93782410
100TMEM67NM_153704.5(TMEM67): c.2086C> T (p.Leu696Phe)single nucleotide variantLikely pathogenicGRCh38Chr 8, 93797456: 93797456
101TMEM67NM_153704.5(TMEM67): c.2661+5G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 8, 93809166: 93809166
102TMEM67NM_153704.5(TMEM67): c.2322+5delGdeletionLikely pathogenicGRCh38Chr 8, 93803689: 93803689
103ARL13BNM_182896.2(ARL13B): c.257A> G (p.Tyr86Cys)single nucleotide variantPathogenicGRCh37Chr 3, 93722629: 93722629
104TCTN1NM_024549.5(TCTN1): c.221-2A> Gsingle nucleotide variantPathogenicrs367543065GRCh37Chr 12, 111057639: 111057639
105TMEM67TMEM67, PRO358LEUundetermined variantPathogenic
106TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
107C5orf42NM_023073.3(C5orf42): c.4006C> T (p.Arg1336Trp)single nucleotide variantPathogenicrs367543061GRCh37Chr 5, 37187590: 37187590
108C5orf42NM_023073.3(C5orf42): c.7400+1G> Asingle nucleotide variantPathogenicrs367543062GRCh37Chr 5, 37167148: 37167148
109C5orf42NM_023073.3(C5orf42): c.6407delC (p.Pro2136Hisfs)deletionPathogenicrs367543064GRCh37Chr 5, 37170198: 37170198
110C5orf42NM_023073.3(C5orf42): c.4804C> T (p.Arg1602Ter)single nucleotide variantPathogenicrs367543063GRCh37Chr 5, 37183479: 37183479
111C5orf42NM_023073.3(C5orf42): c.7477C> T (p.Arg2493Ter)single nucleotide variantPathogenicrs139675596GRCh37Chr 5, 37165697: 37165697
112C5orf42NM_023073.3(C5orf42): c.7957+288G> Asingle nucleotide variantPathogenicrs111294855GRCh37Chr 5, 37157484: 37157484
113NPHP4NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137852920GRCh37Chr 1, 5964776: 5964776
114INPP5ENM_019892.4(INPP5E): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs13297509GRCh37Chr 9, 139326282: 139326282
115INPP5ENM_019892.4(INPP5E): c.1688G> A (p.Arg563His)single nucleotide variantPathogenicrs121918128GRCh37Chr 9, 139324843: 139324843
116INPP5ENM_019892.4(INPP5E): c.1304G> A (p.Arg435Gln)single nucleotide variantPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
117INPP5ENM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys)single nucleotide variantPathogenicrs121918130GRCh37Chr 9, 139327634: 139327634
118CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenic, Pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
119CC2D2ANM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)single nucleotide variantPathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
120IFT172NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys)single nucleotide variantPathogenicrs587777079GRCh37Chr 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 16)
idNameGO IDScoreTop Affiliating Genes
1ciliary baseGO:009754610.9NPHP1, NPHP4
2nonmotile primary ciliumGO:003151310.8AHI1, NPHP4
3ciliary membraneGO:006017010.8ARL13B, TCTN2, TMEM67
4bicellular tight junctionGO:000592310.7NPHP1, NPHP4, RPGRIP1L
5primary ciliumGO:007237210.7AHI1, ARL13B, CEP41, IFT172, INPP5E
6centrioleGO:000581410.6AHI1, CEP41, MKS1
7photoreceptor connecting ciliumGO:003239110.6CEP290, NPHP1, NPHP4
8axonemeGO:000593010.6ARL13B, IFT172, INPP5E, RPGRIP1L
9cell-cell junctionGO:000591110.5AHI1, NPHP1, NPHP4, RPGRIP1L
10ciliary basal bodyGO:003606410.2AHI1, B9D1, CEP41, IFT172, KIAA0586, MKS1
11TCTN-B9D complexGO:003603810.2AHI1, B9D1, CC2D2A, CEP290, MKS1, TCTN1
12ciliary transition zoneGO:003586910.1B9D1, CC2D2A, CEP290, MKS1, NPHP1, NPHP4
13ciliumGO:00059299.9AHI1, ARL13B, CEP41, IFT172, NPHP1, RPGRIP1L
14centrosomeGO:00058139.8AHI1, B9D1, CEP290, CEP41, CSPP1, KIAA0586
15cytoskeletonGO:00058569.8CC2D2A, INPP5E, NPHP1, NPHP4, TCTN1, TCTN2
16cytosolGO:00058299.1B9D1, CC2D2A, CEP290, CEP41, INPP5E, MKS1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1neural tube formationGO:000184110.9IFT172, TCTN1
2neural tube patterningGO:002153210.8ARL13B, RPGRIP1L
3visual behaviorGO:000763210.8NPHP1, NPHP4
4head developmentGO:006032210.8MKS1, RPGRIP1L
5left/right axis specificationGO:007098610.7AHI1, ARL13B, IFT172
6photoreceptor cell outer segment organizationGO:003584510.7AHI1, NPHP4
7establishment or maintenance of cell polarityGO:000716310.7CEP290, RPGRIP1L
8hindbrain developmentGO:003090210.6AHI1, CEP290
9regulation of establishment of protein localizationGO:007020110.6CEP290, KIAA0586
10heart loopingGO:000194710.6AHI1, ARL13B, IFT172
11regulation of smoothened signaling pathwayGO:000858910.6IFT172, MKS1, RPGRIP1L, TCTN1
12telencephalon developmentGO:002153710.6RPGRIP1L, TCTN1
13nonmotile primary cilium assemblyGO:003505810.5ARL13B, CEP290, MKS1
14smoothened signaling pathwayGO:000722410.4ARL13B, B9D1, CC2D2A, IFT172, KIAA0586, TCTN2
15retina development in camera-type eyeGO:006004110.2AHI1, CEP290, NPHP1, NPHP4
16determination of left/right symmetryGO:000736810.1ARL13B, IFT172, MKS1, RPGRIP1L
17cilium morphogenesisGO:00602719.6AHI1, B9D1, CC2D2A, CEP290, IFT172, KIAA0586
18cilium assemblyGO:00423849.0AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290
19organelle organizationGO:00069968.7ARL13B, B9D1, CC2D2A, CEP290, CEP41, IFT172

Sources for Joubert Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet