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 49 11 45 67 24
Joubert Syndrome 49 10 68 45 23 46 12 51 67 24
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
Joubert Syndrome 23 67 24
Jbts1 45 67
Cors1 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
Jbts23 67
Cpd Iv 51
Cors 23


Orphanet epidemiological data:

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


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


External Ids:

Disease Ontology10 DOID:0050777
Orphanet51 475
ICD10 via Orphanet28 Q04.3
UMLS65 C0431399

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 joubert syndrome with renal anomalies, 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, liver and eye, and related mouse phenotypes are liver/biliary system and respiratory system.

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.

NIH Rare Diseases:45 Joubert syndrome is disorder of abnormal 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). this gives a 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 and is predominantly inherited in an autosomal recessive manner. rarely it may be inherited in an x-linked recessive manner. treatment is supportive and depends on the symptoms in each person. last updated: 2/15/2016

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.

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

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.

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 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
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 127)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome with oculorenal anomalies34.1AHI1, INPP5E, MKS1
2joubert syndrome with renal anomalies33.8CC2D2A, CEP290, TMEM237
3cor triatriatum sinister12.4
4cor triatriatum12.3
5cor triatriatum dexter12.3
6isolated cerebellar vermis agenesis12.2
7isolated partial cerebellar vermis agenesis12.2
8isolated total cerebellar vermis agenesis12.2
9joubert syndrome 212.1
10acute cor pulmonale12.1
11cor biloculare12.1
12joubert syndrome 612.0
13joubert syndrome 512.0
14joubert syndrome 1012.0
15joubert syndrome 412.0
16joubert syndrome 1412.0
17joubert syndrome 1512.0
18joubert syndrome 1812.0
19joubert syndrome 1612.0
20joubert syndrome 812.0
21joubert syndrome 912.0
22joubert syndrome 1712.0
23joubert syndrome 1312.0
24joubert syndrome 712.0
25joubert syndrome 2012.0
26joubert syndrome 2112.0
27joubert syndrome and related disorders12.0
28joubert syndrome 2212.0
29joubert syndrome with orofaciodigital defect12.0
30cc2d2a-related joubert syndrome11.9
31joubert syndrome with ocular anomalies11.9
32ttc21b-related joubert syndrome11.8
33ahi1-related joubert syndrome11.8
34arl13b-related joubert syndrome11.8
35c5orf42-related joubert syndrome11.8
36cep290-related joubert syndrome11.8
37cep41-related joubert syndrome11.8
38kif7-related joubert syndrome11.8
39nphp1-related joubert syndrome11.8
40ofd1-related joubert syndrome11.8
41tctn1-related joubert syndrome11.8
42tctn3-related joubert syndrome11.8
43tmem138-related joubert syndrome11.8
44tmem216-related joubert syndrome11.8
45tmem231-related joubert syndrome11.8
46tmem237-related joubert syndrome11.8
47tmem67-related joubert syndrome11.8
48znf423-related joubert syndrome11.8
49cspp1-related joubert syndrome11.8
50pde6d-related joubert syndrome11.8

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:


Clinical features from OMIM:



 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 78)
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 triangular-shaped open mouth HP:0200096
36 enlarged fossa interpeduncularis HP:0100951
37 elongated superior cerebellar peduncle HP:0011933
38 prominent forehead HP:0011220
39 hemifacial spasm HP:0010828
40 protruding tongue HP:0010808
41 retinal dysplasia HP:0007973
42 impaired smooth pursuit HP:0007772
43 occipital myelomeningocele HP:0007271
44 episodic tachypnea HP:0002876
45 central apnea HP:0002871
46 neonatal breathing dysregulation HP:0002790
47 highly arched eyebrow HP:0002553
48 brainstem dysplasia HP:0002508
49 molar tooth sign on mri HP:0002419
50 hypoplasia of the brainstem HP:0002365
51 agenesis of cerebellar vermis HP:0002335
52 dysgenesis of the cerebellar vermis HP:0002195
53 abnormality of the foot HP:0001760
54 hepatic fibrosis HP:0001395
55 cerebellar vermis hypoplasia HP:0001320
56 global developmental delay HP:0001263
57 muscular hypotonia HP:0001252
58 ataxia HP:0001251
59 intellectual disability HP:0001249
60 postaxial hand polydactyly HP:0001162
61 hyperactivity HP:0000752
62 self-mutilation HP:0000742
63 aggressive behavior HP:0000718
64 oculomotor apraxia HP:0000657
65 optic nerve coloboma HP:0000588
66 abnormality of saccadic eye movements HP:0000570
67 chorioretinal coloboma HP:0000567
68 retinal dystrophy HP:0000556
69 ptosis HP:0000508
70 anteverted nares HP:0000463
71 low-set ears HP:0000369
72 epicanthus HP:0000286
73 macrocephaly HP:0000256
74 macroglossia HP:0000158
75 renal cyst HP:0000107
76 abnormality of eye movement HP:0000496
77 apnea HP:0002104
78 tachypnea HP:0002789

UMLS symptoms related to Joubert Syndrome 1:


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 41329000-38-85281052
2Protective AgentsPhase 25651
3ViscosupplementsPhase 2267
4HylanPhase 246
5ImmunoglobulinsPhase 2, Phase 14477
6AntibodiesPhase 2, Phase 14477
7AutoantibodiesPhase 2, Phase 1117
8Adrenergic AgentsPhase 14204
9Liver Extracts3572

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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Anatomical Context for Joubert Syndrome 1

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MalaCards organs/tissues related to Joubert Syndrome 1:

Brain, Liver, Eye, Spinal cord, Heart, Pituitary, Hypothalamus

Animal Models for Joubert Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Joubert Syndrome 1:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.5B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:000538810.3ARL13B, B9D2, C5orf42, CEP290, IFT172, MKS1
3MP:000539110.2AHI1, B9D1, B9D2, CC2D2A, CEP290, IFT172
4MP:000538110.1B9D1, B9D2, C5orf42, CC2D2A, IFT172, INPP5E
5MP:000538010.1ARL13B, B9D1, C2CD3, CC2D2A, IFT172, INPP5E
6MP:000536710.1AHI1, B9D1, C5orf42, CC2D2A, CEP290, IFT172
7MP:000537110.0B9D1, B9D2, C2CD3, C5orf42, CC2D2A, IFT172
8MP:00053909.9B9D1, C5orf42, CEP290, IFT172, INPP5E, KIAA0586
9MP:00036319.8AHI1, ARL13B, B9D1, C2CD3, CC2D2A, CEP290
10MP:00053849.8AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290
11MP:00053829.8B9D1, B9D2, C5orf42, CC2D2A, CEP290, IFT172
12MP:00107689.5AHI1, ARL13B, B9D1, B9D2, C2CD3, CC2D2A
13MP:00053789.5AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A
14MP:00053859.4B9D1, C2CD3, C5orf42, CC2D2A, CEP290, IFT172

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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Joubert Syndrome 1:

5 (show all 69)
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
2MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)single nucleotide variantLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
3C2CD3NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs587777653GRCh38Chr 11, 74168485: 74168485
4CC2D2ANM_001080522.2(CC2D2A): c.1017+1G> Asingle nucleotide variantPathogenicrs200407856GRCh37Chr 4, 15517628: 15517628
5RPGRIP1LNM_015272.3(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)duplicationPathogenicrs778149316GRCh38Chr 16, 53652978: 53652978
6RPGRIP1LNM_015272.3(RPGRIP1L): c.230+1G> Asingle nucleotide variantLikely pathogenicrs786204135GRCh38Chr 16, 53696150: 53696150
7B9D2NM_030578.3(B9D2): c.156_163delGGACATGG (p.Asp53Leufs)deletionLikely pathogenicrs786204189GRCh38Chr 19, 41357948: 41357955
8TCTN2NM_024809.4(TCTN2): c.1877T> A (p.Leu626Ter)single nucleotide variantPathogenicrs786204788GRCh37Chr 12, 124191380: 124191380
9KIAA0586NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs)deletionPathogenicrs534542684GRCh38Chr 14, 58432439: 58432439
10KIAA0586NM_001244189.1(KIAA0586): c.1413-1G> Csingle nucleotide variantPathogenicrs757350052GRCh38Chr 14, 58456701: 58456701
11KIAA0586NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter)single nucleotide variantPathogenicrs796052128GRCh37Chr 14, 58917335: 58917335
12KIAA0586NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs)deletionPathogenicrs770566897GRCh38Chr 14, 58444072: 58444073
13KIAA0586NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val)single nucleotide variantPathogenicrs796052129GRCh37Chr 14, 58924652: 58924652
14CEP290NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs)deletionPathogenicrs863224523GRCh38Chr 12, 88086416: 88086417
15TMEM67NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)single nucleotide variantPathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
16AHI1NM_001134831.1(AHI1): c.1267C> T (p.Gln423Ter)single nucleotide variantPathogenicrs777668842GRCh38Chr 6, 135455811: 135455811
17B9D1NM_015681.4(B9D1): c.285C> A (p.Phe95Leu)single nucleotide variantPathogenicrs373478202GRCh37Chr 17, 19251153: 19251153
18B9D1NM_015681.4(B9D1): c.466C> T (p.Arg156Trp)single nucleotide variantPathogenicrs369488112GRCh38Chr 17, 19343796: 19343796
19B9D1NM_015681.4(B9D1): c.95A> G (p.Tyr32Cys)single nucleotide variantPathogenicrs771170000GRCh37Chr 17, 19263670: 19263670
20B9D2NM_030578.3(B9D2): c.463G> A (p.Gly155Ser)single nucleotide variantPathogenicrs750436680GRCh37Chr 19, 41860670: 41860670
21B9D2NM_030578.3(B9D2): c.107T> C (p.Leu36Pro)single nucleotide variantPathogenicrs757863670GRCh37Chr 19, 41863909: 41863909
22B9D2NM_030578.3(B9D2): c.220C> T (p.Pro74Ser)single nucleotide variantPathogenicrs863225150GRCh38Chr 19, 41355008: 41355008
23C2CD3NM_001286577.1(C2CD3): c.4951+1G> Tsingle nucleotide variantPathogenicrs863225151GRCh38Chr 11, 74074252: 74074252
24C2CD3NM_001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu)single nucleotide variantPathogenicrs150291837GRCh38Chr 11, 74049431: 74049431
25INPP5ENM_019892.5(INPP5E): c.907G> A (p.Val303Met)single nucleotide variantPathogenicrs746212325GRCh38Chr 9, 136434769: 136434769
26INPP5ENM_019892.5(INPP5E): c.1684A> G (p.Ser562Gly)single nucleotide variantPathogenicrs863225197GRCh38Chr 9, 136430395: 136430395
27INPP5ENM_019892.5(INPP5E): c.1064C> T (p.Thr355Met)single nucleotide variantPathogenicrs863225198GRCh38Chr 9, 136433250: 136433250
28INPP5ENM_019892.5(INPP5E): c.1760delT (p.Val587Glyfs)deletionPathogenicrs775518991GRCh38Chr 9, 136430319: 136430319
29INPP5ENM_019892.5(INPP5E): c.1754G> A (p.Arg585His)single nucleotide variantPathogenicrs752300607GRCh38Chr 9, 136430325: 136430325
30INPP5ENM_019892.5(INPP5E): c.1897_1898delCA (p.Gln633Glufs)deletionPathogenicrs863225199GRCh38Chr 9, 136429712: 136429713
31INPP5ENM_019892.5(INPP5E): c.1154G> A (p.Cys385Tyr)single nucleotide variantPathogenicrs863225200GRCh38Chr 9, 136433160: 136433160
32INPP5ENM_019892.5(INPP5E): c.1577C> T (p.Pro526Leu)single nucleotide variantPathogenicrs746867724GRCh38Chr 9, 136431090: 136431090
33INPP5ENM_019892.5(INPP5E): c.1021G> A (p.Gly341Ser)single nucleotide variantPathogenicrs780882740GRCh38Chr 9, 136434050: 136434050
34INPP5ENM_019892.5(INPP5E): c.944C> T (p.Pro315Leu)single nucleotide variantPathogenicrs754637179GRCh38Chr 9, 136434127: 136434127
35INPP5ENM_019892.5(INPP5E): c.1162G> T (p.Val388Leu)single nucleotide variantPathogenicrs863225201GRCh38Chr 9, 136433073: 136433073
36INPP5ENM_019892.5(INPP5E): c.1249T> C (p.Ser417Pro)single nucleotide variantPathogenicrs863225202GRCh38Chr 9, 136432986: 136432986
37INPP5ENM_019892.5(INPP5E): c.1468G> T (p.Asp490Tyr)single nucleotide variantPathogenicrs757222534GRCh38Chr 9, 136431905: 136431905
38KIAA0586NM_001244189.1(KIAA0586): c.1430_1433delAGCTinsGA (p.Glu477Glyfs)indelPathogenicrs869312856GRCh38Chr 14, 58456719: 58456722
39KIAA0586NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=)single nucleotide variantPathogenicrs540255320GRCh38Chr 14, 58482712: 58482712
40KIAA0586NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs)deletionPathogenicrs863225203GRCh38Chr 14, 58457967: 58457971
41KIAA0586NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter)single nucleotide variantPathogenicrs201097695GRCh37Chr 14, 58910729: 58910729
42MKS1NM_017777.3(MKS1): c.1208C> T (p.Ser403Leu)single nucleotide variantPathogenicrs773684291GRCh37Chr 17, 56285320: 56285320
43MKS1NM_017777.3(MKS1): c.1528dupC (p.Arg510Profs)duplicationPathogenicrs863225204GRCh37Chr 17, 56283704: 56283704
44MKS1NM_017777.3(MKS1): c.262-179_262-37deldeletionPathogenicGRCh37Chr 17, 56293641: 56293783
45MKS1NM_017777.3(MKS1): c.55G> T (p.Asp19Tyr)single nucleotide variantPathogenicrs863225205GRCh37Chr 17, 56296537: 56296537
46MKS1NM_017777.3(MKS1): c.381delC (p.Tyr128Thrfs)deletionPathogenicrs863225206GRCh37Chr 17, 56293485: 56293485
47MKS1NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)deletionPathogenicrs754279998GRCh37Chr 17, 56285514: 56285516
48MKS1NM_017777.3(MKS1): c.1589-2A> Tsingle nucleotide variantPathogenicrs863225207GRCh37Chr 17, 56283533: 56283533
49MKS1NM_017777.3(MKS1): c.950G> A (p.Gly317Glu)single nucleotide variantPathogenicrs863225208GRCh37Chr 17, 56288349: 56288349
50MKS1NM_001165927.1(MKS1): c.737_738insC (p.Glu246Aspfs)insertionPathogenicrs863225209GRCh37Chr 17, 56290433: 56290434
51MKS1NM_001165927.1(MKS1): c.1231C> T (p.Pro411Ser)single nucleotide variantPathogenicrs863225210GRCh37Chr 17, 56285267: 56285267
52MKS1NM_017777.3(MKS1): c.493C> T (p.Arg165Cys)single nucleotide variantLikely pathogenicrs779953982GRCh37Chr 17, 56292124: 56292124
53MKS1NM_017777.3(MKS1): c.1389G> T (p.Arg463=)single nucleotide variantLikely pathogenicrs773269657GRCh37Chr 17, 56284464: 56284464
54PIBF1NM_006346.2(PIBF1): c.1669delC (p.Leu557Phefs)deletionLikely pathogenicrs863225214GRCh37Chr 13, 73491243: 73491243
55PIBF1NM_006346.2(PIBF1): c.1214G> A (p.Arg405Gln)single nucleotide variantLikely pathogenicrs17089782GRCh37Chr 13, 73409497: 73409497
56TCTN2NM_024809.4(TCTN2): c.1117G> A (p.Gly373Arg)single nucleotide variantPathogenicrs187433682GRCh37Chr 12, 124179406: 124179406
57TCTN2NM_024809.4(TCTN2): c.1626delT (p.Asp543Ilefs)deletionPathogenicrs863225220GRCh37Chr 12, 124189092: 124189092
58TCTN2NM_024809.4(TCTN2): c.1751T> A (p.Ile584Lys)single nucleotide variantPathogenicrs201010803GRCh37Chr 12, 124189217: 124189217
59TCTN2NM_024809.4(TCTN2): c.1291G> T (p.Glu431Ter)single nucleotide variantPathogenicrs863225221GRCh37Chr 12, 124179823: 124179823
60TCTN2NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs)duplicationPathogenicrs863225222GRCh37Chr 12, 124155863: 124155863
61TCTN2NM_024809.4(TCTN2): c.71delG (p.Asp26Thrfs)deletionPathogenicrs863225223GRCh37Chr 12, 124155858: 124155858
62TCTN2NM_024809.4(TCTN2): c.613G> T (p.Gly205Cys)single nucleotide variantPathogenicrs201827132GRCh37Chr 12, 124171431: 124171431
63KIAA0556NM_015202.3(KIAA0556): c.2674C> T (p.Gln892Ter)single nucleotide variantLikely pathogenic, Pathogenicrs864309712GRCh37Chr 16, 27760955: 27760955
64TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
65NPHP4NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137852920GRCh37Chr 1, 5964776: 5964776
66INPP5ENM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln)single nucleotide variantPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
67CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenic, Pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
68CC2D2ANM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)single nucleotide variantPathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
69IFT172NM_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:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593010.5INPP5E, RPGRIP1L
2ciliary transition zoneGO:003586910.5B9D2, CEP290, MKS1, TMEM237
3centrioleGO:000581410.3CEP104, CEP290, MKS1
4TCTN-B9D complexGO:00360389.9AHI1, B9D1, B9D2, MKS1, TCTN2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1embryonic brain developmentGO:199040310.8CC2D2A, MKS1
2establishment of planar polarityGO:000173610.8C5orf42, RPGRIP1L
3left/right axis specificationGO:007098610.8ARL13B, IFT172
4camera-type eye developmentGO:004301010.7CC2D2A, RPGRIP1L
5nonmotile primary cilium assemblyGO:003505810.7CC2D2A, MKS1
6regulation of smoothened signaling pathwayGO:000858910.7C2CD3, IFT172, MKS1
7neural tube developmentGO:002191510.6C2CD3, IFT172
8in utero embryonic developmentGO:000170110.5B9D1, C2CD3, TCTN1
9determination of left/right symmetryGO:000736810.5CC2D2A, IFT172, MKS1, RPGRIP1L
10smoothened signaling pathwayGO:000722410.5ARL13B, CC2D2A, IFT172
11cilium assemblyGO:004238410.4B9D1, RPGRIP1L
12cerebellum developmentGO:002154910.2C5orf42, RPGRIP1L
13cilium morphogenesisGO:006027110.1B9D1, CC2D2A, CEP290, IFT172, KIAA0586, MKS1
14organelle organizationGO:00069969.7ARL13B, B9D2, CC2D2A, IFT172, RPGRIP1L, TMEM67

Sources for Joubert Syndrome 1

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet