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 50 46 68 25 12
Joubert Syndrome 50 11 69 46 24 47 13 52 68 25
Cerebellooculorenal Syndrome 1 46 24 68
Familial Aplasia of the Vermis 24 25 66
Joubert-Boltshauser Syndrome 46 52 68
Jbts 11 24 68
Cerebelloparenchymal Disorder Iv 52 68
Agenesis of Cerebellar Vermis 24 25
Joubert Syndrome 23 68 25
Cors1 46 68
Jbts1 46 68
Cpd4 46 68
Cerebello-Oculo-Renal Syndrome 1 68
Cerebelloparenchymal Disorder 4 46
Cerebello-Oculo-Renal Syndrome 24
Joubert-Bolthauser Syndrome 24
Cerebellar Vermis Agenesis 46
Classic Joubert Syndrome 52
Joubert Syndrome Type a 52
Pure Joubert Syndrome 52
Jbts23 68
Cpd Iv 52
Cors 24


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


External Ids:

Disease Ontology11 DOID:0050777
Orphanet52 ORPHA475
ICD10 via Orphanet29 Q04.3

Summaries for Joubert Syndrome 1

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OMIM:50 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 sinister and cor triatriatum, 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 spinal cord, and related mouse phenotypes are liver/biliary system and respiratory system.

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.

NIH Rare Diseases:46 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: 2/15/2016

UniProtKB/Swiss-Prot:68 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:47 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the

Genetics Home Reference:24 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:50 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 131)
idRelated DiseaseScoreTop Affiliating Genes
1cor triatriatum sinister12.4
2cor triatriatum12.3
3cor triatriatum dexter12.3
4isolated cerebellar vermis agenesis12.2
5isolated partial cerebellar vermis agenesis12.2
6isolated total cerebellar vermis agenesis12.2
7joubert syndrome 212.1
8acute cor pulmonale12.1
9cor biloculare12.1
10joubert syndrome 612.0
11joubert syndrome 512.0
12joubert syndrome 1012.0
13joubert syndrome 412.0
14joubert syndrome 1412.0
15joubert syndrome 1512.0
16joubert syndrome 1812.0
17joubert syndrome 1612.0
18joubert syndrome 812.0
19joubert syndrome 912.0
20joubert syndrome 1712.0
21joubert syndrome 1312.0
22joubert syndrome 712.0
23joubert syndrome 2012.0
24joubert syndrome 2112.0
25joubert syndrome and related disorders12.0
26joubert syndrome 2212.0
27joubert syndrome with orofaciodigital defect12.0
28cc2d2a-related joubert syndrome12.0
29joubert syndrome with oculorenal anomalies11.9
30joubert syndrome with ocular anomalies11.9
31joubert syndrome with renal anomalies11.8
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:



 52 (show all 37)
  • oral cleft
  • hydrocephalus
  • long face
  • low-set ears
  • prominent nasal bridge
  • anteverted nares
  • strabismus
  • ptosis
  • iris coloboma
  • nystagmus
  • oculomotor apraxia
  • abnormality of the hypothalamus-pituitary axis
  • hand polydactyly
  • intellectual disability
  • seizures
  • ataxia
  • muscular hypotonia
  • global developmental delay
  • gait disturbance
  • cerebellar vermis hypoplasia
  • tremor
  • situs inversus totalis
  • foot polydactyly
  • encephalocele
  • apnea
  • polymicrogyria
  • aganglionic megacolon
  • abnormality of neuronal migration
  • highly arched eyebrow
  • malformation of the heart and great vessels
  • scoliosis
  • abnormal pattern of respiration
  • episodic tachypnea
  • abnormal form of the vertebral bodies
  • biparietal narrowing
  • aplasia/hypoplasia of the corpus callosum
  • feeding difficulties in infancy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1KavaNutraceuticalPhase 41379000-38-8

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 Vermis25
2 Joubert Syndrome 125
3 Joubert Syndrome 2325
4 Joubert Syndrome25
5 Agenesis of Cerebellar Vermis25

Anatomical Context for Joubert Syndrome 1

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MalaCards organs/tissues related to Joubert Syndrome 1:

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

Animal Models for Joubert Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Joubert Syndrome 1:

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.6B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:000538810.3ARL13B, B9D2, C5orf42, CC2D2A, CEP290, IFT172
3MP:000538210.3B9D1, C5orf42, CC2D2A, CEP290, IFT172, INPP5E
4MP:000538110.2B9D1, B9D2, C5orf42, CC2D2A, IFT172, INPP5E
5MP:000539110.0AHI1, B9D1, CC2D2A, CEP290, IFT172, INPP5E
6MP:000539010.0C5orf42, CEP290, IFT172, INPP5E, KIAA0586, MKS1
7MP:000538010.0ARL13B, B9D1, C2CD3, C5orf42, CC2D2A, IFT172
8MP:000538410.0AHI1, B9D1, B9D2, C2CD3, C5orf42, CC2D2A
9MP:00053859.9B9D1, C2CD3, C5orf42, CC2D2A, CEP290, IFT172
10MP:00053679.9AHI1, B9D1, C5orf42, CC2D2A, CEP290, IFT172
11MP:00107689.7AHI1, ARL13B, B9D1, B9D2, C2CD3, C5orf42
12MP:00036319.7AHI1, ARL13B, B9D1, C2CD3, C5orf42, CC2D2A
13MP:00053789.5AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A
14MP:00053719.4B9D1, C2CD3, C5orf42, CC2D2A, IFT172, INPP5E

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 67)
id Gene Variation Type Significance SNP ID Assembly Location
1MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)single nucleotide variantLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
2C2CD3NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs587777653GRCh38Chr 11, 74168485: 74168485
3CC2D2ANM_001080522.2(CC2D2A): c.1017+1G> Asingle nucleotide variantPathogenicrs200407856GRCh37Chr 4, 15517628: 15517628
4RPGRIP1LNM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs)duplicationPathogenicrs778149316GRCh38Chr 16, 53652978: 53652978
5RPGRIP1LNM_015272.4(RPGRIP1L): c.230+1G> Asingle nucleotide variantLikely pathogenicrs786204135GRCh38Chr 16, 53696150: 53696150
6B9D2NM_030578.3(B9D2): c.156_163delGGACATGG (p.Asp53Leufs)deletionLikely pathogenicrs786204189GRCh38Chr 19, 41357948: 41357955
7TCTN2NM_024809.4(TCTN2): c.1877T> A (p.Leu626Ter)single nucleotide variantPathogenicrs786204788GRCh37Chr 12, 124191380: 124191380
8KIAA0586NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs)deletionPathogenicrs534542684GRCh38Chr 14, 58432439: 58432439
9KIAA0586NM_001244189.1(KIAA0586): c.1413-1G> Csingle nucleotide variantPathogenicrs757350052GRCh38Chr 14, 58456701: 58456701
10KIAA0586NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter)single nucleotide variantPathogenicrs796052128GRCh37Chr 14, 58917335: 58917335
11KIAA0586NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs)deletionPathogenicrs770566897GRCh37Chr 14, 58910790: 58910791
12KIAA0586NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val)single nucleotide variantPathogenicrs796052129GRCh37Chr 14, 58924652: 58924652
13CEP290NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs)deletionPathogenicrs863224523GRCh37Chr 12, 88480193: 88480194
14TMEM67NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)single nucleotide variantLikely pathogenic, Pathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
15AHI1NM_001134831.1(AHI1): c.1267C> T (p.Gln423Ter)single nucleotide variantPathogenicrs777668842GRCh38Chr 6, 135455811: 135455811
16B9D1NM_015681.4(B9D1): c.285C> A (p.Phe95Leu)single nucleotide variantPathogenicrs373478202GRCh37Chr 17, 19251153: 19251153
17B9D1NM_015681.4(B9D1): c.466C> T (p.Arg156Trp)single nucleotide variantPathogenicrs369488112GRCh38Chr 17, 19343796: 19343796
18B9D1NM_015681.4(B9D1): c.95A> G (p.Tyr32Cys)single nucleotide variantPathogenicrs771170000GRCh37Chr 17, 19263670: 19263670
19B9D2NM_030578.3(B9D2): c.463G> A (p.Gly155Ser)single nucleotide variantPathogenicrs750436680GRCh38Chr 19, 41354765: 41354765
20B9D2NM_030578.3(B9D2): c.107T> C (p.Leu36Pro)single nucleotide variantPathogenicrs757863670GRCh37Chr 19, 41863909: 41863909
21B9D2NM_030578.3(B9D2): c.220C> T (p.Pro74Ser)single nucleotide variantPathogenicrs863225150GRCh37Chr 19, 41860913: 41860913
22C2CD3NM_001286577.1(C2CD3): c.4951+1G> Tsingle nucleotide variantPathogenicrs863225151GRCh38Chr 11, 74074252: 74074252
23C2CD3NM_001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu)single nucleotide variantPathogenicrs150291837GRCh37Chr 11, 73760476: 73760476
24INPP5ENM_019892.5(INPP5E): c.907G> A (p.Val303Met)single nucleotide variantPathogenicrs746212325GRCh38Chr 9, 136434769: 136434769
25INPP5ENM_019892.5(INPP5E): c.1684A> G (p.Ser562Gly)single nucleotide variantPathogenicrs863225197GRCh38Chr 9, 136430395: 136430395
26INPP5ENM_019892.5(INPP5E): c.1064C> T (p.Thr355Met)single nucleotide variantPathogenicrs863225198GRCh37Chr 9, 139327702: 139327702
27INPP5ENM_019892.5(INPP5E): c.1760delT (p.Val587Glyfs)deletionPathogenicrs775518991GRCh37Chr 9, 139324771: 139324771
28INPP5ENM_019892.5(INPP5E): c.1754G> A (p.Arg585His)single nucleotide variantPathogenicrs752300607GRCh38Chr 9, 136430325: 136430325
29INPP5ENM_019892.5(INPP5E): c.1897_1898delCA (p.Gln633Glufs)deletionPathogenicrs863225199GRCh37Chr 9, 139324164: 139324165
30INPP5ENM_019892.5(INPP5E): c.1154G> A (p.Cys385Tyr)single nucleotide variantPathogenicrs863225200GRCh37Chr 9, 139327612: 139327612
31INPP5ENM_019892.5(INPP5E): c.1577C> T (p.Pro526Leu)single nucleotide variantPathogenicrs746867724GRCh38Chr 9, 136431090: 136431090
32INPP5ENM_019892.5(INPP5E): c.1021G> A (p.Gly341Ser)single nucleotide variantPathogenicrs780882740GRCh37Chr 9, 139328502: 139328502
33INPP5ENM_019892.5(INPP5E): c.944C> T (p.Pro315Leu)single nucleotide variantPathogenicrs754637179GRCh38Chr 9, 136434127: 136434127
34INPP5ENM_019892.5(INPP5E): c.1162G> T (p.Val388Leu)single nucleotide variantPathogenicrs863225201GRCh38Chr 9, 136433073: 136433073
35INPP5ENM_019892.5(INPP5E): c.1249T> C (p.Ser417Pro)single nucleotide variantPathogenicrs863225202GRCh37Chr 9, 139327438: 139327438
36INPP5ENM_019892.5(INPP5E): c.1468G> T (p.Asp490Tyr)single nucleotide variantPathogenicrs757222534GRCh37Chr 9, 139326357: 139326357
37KIAA0586NM_001244189.1(KIAA0586): c.1430_1433delAGCTinsGA (p.Glu477Glyfs)indelPathogenicrs869312856GRCh37Chr 14, 58923437: 58923440
38KIAA0586NM_001244189.1(KIAA0586): c.3303G> A (p.Pro1101=)single nucleotide variantPathogenicrs540255320GRCh38Chr 14, 58482712: 58482712
39KIAA0586NM_001244189.1(KIAA0586): c.1730_1734delTATCT (p.Leu577Tyrfs)deletionPathogenicrs863225203GRCh38Chr 14, 58457967: 58457971
40KIAA0586NM_001244189.1(KIAA0586): c.802C> T (p.Gln268Ter)single nucleotide variantPathogenicrs201097695GRCh37Chr 14, 58910729: 58910729
41MKS1NM_017777.3(MKS1): c.1208C> T (p.Ser403Leu)single nucleotide variantPathogenicrs773684291GRCh37Chr 17, 56285320: 56285320
42MKS1NM_017777.3(MKS1): c.1528dupC (p.Arg510Profs)duplicationPathogenicrs863225204GRCh38Chr 17, 58206343: 58206343
43MKS1NM_017777.3(MKS1): c.262-179_262-37deldeletionPathogenicGRCh38Chr 17, 58216280: 58216422
44MKS1NM_017777.3(MKS1): c.55G> T (p.Asp19Tyr)single nucleotide variantPathogenicrs863225205GRCh38Chr 17, 58219176: 58219176
45MKS1NM_017777.3(MKS1): c.381delC (p.Tyr128Thrfs)deletionPathogenicrs863225206GRCh37Chr 17, 56293485: 56293485
46MKS1NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del)deletionPathogenicrs754279998GRCh38Chr 17, 58208153: 58208155
47MKS1NM_017777.3(MKS1): c.1589-2A> Tsingle nucleotide variantPathogenicrs863225207GRCh38Chr 17, 58206172: 58206172
48MKS1NM_017777.3(MKS1): c.950G> A (p.Gly317Glu)single nucleotide variantPathogenicrs863225208GRCh37Chr 17, 56288349: 56288349
49MKS1NM_001165927.1(MKS1): c.737_738insC (p.Glu246Aspfs)insertionPathogenicrs863225209GRCh38Chr 17, 58213072: 58213073
50MKS1NM_001165927.1(MKS1): c.1231C> T (p.Pro411Ser)single nucleotide variantPathogenicrs863225210GRCh37Chr 17, 56285267: 56285267
51TCTN2NM_024809.4(TCTN2): c.1117G> A (p.Gly373Arg)single nucleotide variantPathogenicrs187433682GRCh37Chr 12, 124179406: 124179406
52TCTN2NM_024809.4(TCTN2): c.1626delT (p.Asp543Ilefs)deletionPathogenicrs863225220GRCh37Chr 12, 124189092: 124189092
53TCTN2NM_024809.4(TCTN2): c.1751T> A (p.Ile584Lys)single nucleotide variantPathogenicrs201010803GRCh37Chr 12, 124189217: 124189217
54TCTN2NM_024809.4(TCTN2): c.1291G> T (p.Glu431Ter)single nucleotide variantPathogenicrs863225221GRCh38Chr 12, 123695276: 123695276
55TCTN2NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs)duplicationPathogenicrs863225222GRCh37Chr 12, 124155863: 124155863
56TCTN2NM_024809.4(TCTN2): c.71delG (p.Asp26Thrfs)deletionPathogenicrs863225223GRCh38Chr 12, 123671311: 123671311
57TCTN2NM_024809.4(TCTN2): c.613G> T (p.Gly205Cys)single nucleotide variantPathogenicrs201827132GRCh37Chr 12, 124171431: 124171431
58KIAA0556NM_015202.3(KIAA0556): c.2674C> T (p.Gln892Ter)single nucleotide variantLikely pathogenic, Pathogenicrs864309712GRCh37Chr 16, 27760955: 27760955
59CC2D2ANM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter)single nucleotide variantPathogenicrs375278294GRCh37Chr 4, 15575830: 15575830
60RPGRIP1LNM_015272.4(RPGRIP1L): c.1120delC (p.His374Metfs)deletionPathogenicrs878855006GRCh38Chr 16, 53664993: 53664993
61TMEM237NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter)single nucleotide variantPathogenicrs199469707GRCh37Chr 2, 202505638: 202505638
62NPHP4NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137852920GRCh37Chr 1, 5964776: 5964776
63INPP5ENM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln)single nucleotide variantPathogenicrs121918129GRCh37Chr 9, 139327014: 139327014
64MKS1NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs)duplicationLikely pathogenic, Pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
65CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenic, Pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
66CC2D2ANM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)single nucleotide variantPathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
67IFT172NM_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 12)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445111.0C2CD3, CEP290
2primary ciliumGO:007237210.8AHI1, ARL13B, IFT172, INPP5E
3centrioleGO:000581410.6AHI1, C2CD3, CEP104, CEP290, KIAA0586, MKS1
4MKS complexGO:003603810.6AHI1, B9D1, B9D2, CC2D2A, CEP290, MKS1
5ciliary transition zoneGO:003586910.5B9D1, C5orf42, CC2D2A, CEP290, MKS1, RPGRIP1L
6axonemeGO:000593010.5ARL13B, IFT172, INPP5E, RPGRIP1L
7cytoskeletonGO:000585610.4CC2D2A, INPP5E, KIAA0556, TCTN1, TCTN2
8ciliumGO:000592910.4AHI1, ARL13B, CEP104, IFT172, RPGRIP1L
9ciliary basal bodyGO:003606410.4AHI1, B9D1, B9D2, C2CD3, CEP290, IFT172
10centrosomeGO:000581310.3AHI1, B9D1, B9D2, C2CD3, CEP290, HYLS1
11ciliary membraneGO:006017010.3ARL13B, TCTN2, TMEM67
12cytosolGO:00058299.8AHI1, B9D1, B9D2, C2CD3, CC2D2A, CEP290

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1neural tube patterningGO:002153210.9ARL13B, RPGRIP1L
2motile primary cilium assemblyGO:190388710.9CC2D2A, MKS1
3regulation of establishment of protein localizationGO:007020110.9CEP290, KIAA0586
4telencephalon developmentGO:002153710.8RPGRIP1L, TCTN1
5protein localization to ciliary transition zoneGO:190449110.8C5orf42, CC2D2A, TCTN1
6hindbrain developmentGO:003090210.8AHI1, CEP290
7embryonic brain developmentGO:199040310.8CC2D2A, MKS1
8establishment of planar polarityGO:000173610.7C5orf42, RPGRIP1L
9camera-type eye developmentGO:004301010.7B9D1, CC2D2A, RPGRIP1L
10neural tube closureGO:000184310.6CC2D2A, IFT172, MKS1
11embryonic digit morphogenesisGO:004273310.6B9D1, C2CD3, C5orf42, MKS1
12in utero embryonic developmentGO:000170110.6B9D1, C2CD3, RPGRIP1L, TCTN1
13left/right axis specificationGO:007098610.6AHI1, ARL13B, IFT172
14regulation of smoothened signaling pathwayGO:000858910.6C2CD3, IFT172, MKS1, RPGRIP1L, TCTN1
15heart loopingGO:000194710.5AHI1, ARL13B, C2CD3, IFT172
16nonmotile primary cilium assemblyGO:003505810.4ARL13B, C2CD3, CC2D2A, MKS1
17head developmentGO:006032210.4MKS1, RPGRIP1L
18smoothened signaling pathwayGO:000722410.2ARL13B, B9D1, CC2D2A, IFT172, KIAA0586, TCTN2
19determination of left/right symmetryGO:000736810.2ARL13B, CC2D2A, IFT172, MKS1, RPGRIP1L
20cilium morphogenesisGO:00602719.9AHI1, B9D1, CC2D2A, CEP290, IFT172, KIAA0586
21cilium assemblyGO:00423849.8AHI1, ARL13B, B9D1, B9D2, C2CD3, C5orf42

Sources for Joubert Syndrome 1

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet