JBTS1
MCID: JBR020
MIFTS: 60

Joubert Syndrome 1 (JBTS1) malady

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

Aliases & Classifications for Joubert Syndrome 1

Aliases & Descriptions for Joubert Syndrome 1:

Name: Joubert Syndrome 1 54 12 50 66 29 13
Joubert Syndrome 54 12 71 50 25 51 56 66 29 14
Cerebellooculorenal Syndrome 1 12 50 25 66
Cerebelloparenchymal Disorder Iv 12 56 66
Joubert-Boltshauser Syndrome 50 56 66
Joubert Syndrome 23 12 66 29
Cors1 12 50 66
Jbts1 12 50 66
Jbts 12 25 66
Cpd4 12 50 66
Familial Aplasia of the Vermis 25 69
Agenesis of Cerebellar Vermis 25 29
Jbts23 12 66
Cerebello-Oculo-Renal Syndrome 1 66
Cerebelloparenchymal Disorder 4 50
Cerebello-Oculo-Renal Syndrome 25
Joubert-Bolthauser Syndrome 25
Cerebellar Vermis Agenesis 50
Classic Joubert Syndrome 56
Joubert Syndrome Type a 56
Pure Joubert Syndrome 56
Cpd Iv 56
Cors 25

Characteristics:

Orphanet epidemiological data:

56
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:

32
joubert syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course phenotypic variability

joubert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

ICD10 33 Q04.3
Orphanet 56 ORPHA475
ICD10 via Orphanet 34 Q04.3

Summaries for Joubert Syndrome 1

OMIM : 54 Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the... (213300) more...

MalaCards based summary : Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 4 and joubert syndrome 10, and has symptoms including ataxia, seizures and tremor. An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Kava and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 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 : 50 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 : 51 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the  - an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including , , and .

UniProtKB/Swiss-Prot : 66 Joubert syndrome 1: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome 23: A mild form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.

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

Related Diseases for Joubert Syndrome 1

Diseases in the Joubert Syndrome-3 family:

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

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

(show top 50) (show all 142)
id Related Disease Score Top Affiliating Genes
1 joubert syndrome 4 33.6 AHI1 ARL13B CC2D2A CEP290 MKS1 TMEM216
2 joubert syndrome 10 33.4 CEP290 OFD1
3 cor triatriatum 12.5
4 cor triatriatum sinister 12.3
5 joubert syndrome 2 12.2
6 cor triatriatum dexter 12.1
7 joubert syndrome 6 12.1
8 joubert syndrome 5 12.1
9 isolated cerebellar vermis agenesis 12.1
10 isolated partial cerebellar vermis agenesis 12.1
11 isolated total cerebellar vermis agenesis 12.1
12 joubert syndrome 21 12.1
13 joubert syndrome 15 12.1
14 joubert syndrome 14 12.1
15 joubert syndrome 18 12.1
16 joubert syndrome 16 12.1
17 joubert syndrome 9 12.0
18 joubert syndrome 7 12.0
19 joubert syndrome 20 12.0
20 joubert syndrome 17 12.0
21 joubert syndrome 8 12.0
22 joubert syndrome 13 12.0
23 joubert syndrome 27 12.0
24 joubert syndrome 22 12.0
25 joubert syndrome 24 12.0
26 joubert syndrome 25 12.0
27 joubert syndrome 26 12.0
28 joubert syndrome 28 12.0
29 acute cor pulmonale 12.0
30 cor biloculare 11.9
31 joubert syndrome and related disorders 11.9
32 cc2d2a-related joubert syndrome 11.8
33 joubert syndrome with oculorenal anomalies 11.8
34 coach syndrome 11.8
35 joubert syndrome with ocular anomalies 11.7
36 ttc21b-related joubert syndrome 11.7
37 joubert syndrome with renal anomalies 11.7
38 tmem67-related joubert syndrome 11.7
39 cep290-related joubert syndrome 11.7
40 cep41-related joubert syndrome 11.7
41 znf423-related joubert syndrome 11.7
42 kif7-related joubert syndrome 11.7
43 nphp1-related joubert syndrome 11.7
44 ofd1-related joubert syndrome 11.7
45 tctn1-related joubert syndrome 11.7
46 tctn3-related joubert syndrome 11.7
47 tmem138-related joubert syndrome 11.7
48 ahi1-related joubert syndrome 11.7
49 tmem216-related joubert syndrome 11.7
50 arl13b-related joubert syndrome 11.7

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



Diseases related to Joubert Syndrome 1

Symptoms & Phenotypes for Joubert Syndrome 1

Symptoms by clinical synopsis from OMIM:

213300 616490

Clinical features from OMIM:

213300 616490

Human phenotypes related to Joubert Syndrome 1:

56 32 (show top 50) (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 tremor 56 32 Occasional (29-5%) HP:0001337
4 low-set ears 56 32 Occasional (29-5%) HP:0000369
5 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
6 ptosis 56 32 Occasional (29-5%) HP:0000508
7 nystagmus 56 32 Frequent (79-30%) HP:0000639
8 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
9 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
10 gait disturbance 56 32 Frequent (79-30%) HP:0001288
11 scoliosis 56 32 Occasional (29-5%) HP:0002650
12 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
13 anteverted nares 56 32 Occasional (29-5%) HP:0000463
14 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
15 strabismus 56 32 Occasional (29-5%) HP:0000486
16 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
17 biparietal narrowing 56 32 Frequent (79-30%) HP:0004422
18 apnea 56 32 Very frequent (99-80%) HP:0002104
19 prominent nasal bridge 56 32 Occasional (29-5%) HP:0000426
20 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
21 long face 56 32 Frequent (79-30%) HP:0000276
22 hand polydactyly 56 32 Occasional (29-5%) HP:0001161
23 foot polydactyly 56 32 Occasional (29-5%) HP:0001829
24 highly arched eyebrow 56 32 Occasional (29-5%) HP:0002553
25 iris coloboma 56 32 Occasional (29-5%) HP:0000612
26 polymicrogyria 56 32 Occasional (29-5%) HP:0002126
27 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
28 oral cleft 56 32 Occasional (29-5%) HP:0000202
29 situs inversus totalis 56 32 Occasional (29-5%) HP:0001696
30 encephalocele 56 32 Occasional (29-5%) HP:0002084
31 abnormality of the hypothalamus-pituitary axis 56 32 Occasional (29-5%) HP:0000864
32 cerebellar vermis hypoplasia 56 32 Very frequent (99-80%) HP:0001320
33 oculomotor apraxia 56 32 Very frequent (99-80%) HP:0000657
34 episodic tachypnea 56 32 Very frequent (99-80%) HP:0002876
35 macrocephaly 32 HP:0000256
36 abnormality of eye movement 32 HP:0000496
37 macroglossia 32 HP:0000158
38 prominent forehead 32 HP:0011220
39 malformation of the heart and great vessels 56 Occasional (29-5%)
40 epicanthus 32 HP:0000286
41 hepatic fibrosis 32 HP:0001395
42 abnormality of the foot 32 HP:0001760
43 abnormality of neuronal migration 56 Occasional (29-5%)
44 chorioretinal coloboma 32 HP:0000567
45 protruding tongue 32 HP:0010808
46 retinal dysplasia 32 HP:0007973
47 occipital myelomeningocele 32 HP:0007271
48 aggressive behavior 32 HP:0000718
49 optic nerve coloboma 32 HP:0000588
50 postaxial hand polydactyly 32 HP:0001162

UMLS symptoms related to Joubert Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 1:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 B9D2 C2CD3 CC2D2A CEP290 IFT172 INPP5E
2 growth/size/body region MP:0005378 10.33 TCTN2 TMEM67 SLC30A7 AHI1 ARL13B B9D1
3 cardiovascular system MP:0005385 10.28 B9D1 C2CD3 CC2D2A CEP290 IFT172 KIAA0586
4 embryo MP:0005380 10.26 ARL13B B9D1 C2CD3 CC2D2A IFT172 INPP5E
5 craniofacial MP:0005382 10.25 IFT172 INPP5E KIAA0586 MKS1 OFD1 RPGRIP1L
6 mortality/aging MP:0010768 10.21 OFD1 RPGRIP1L TMEM67 AHI1 ARL13B B9D1
7 digestive/alimentary MP:0005381 10.19 B9D1 B9D2 CC2D2A IFT172 INPP5E MKS1
8 limbs/digits/tail MP:0005371 10.17 B9D1 C2CD3 CC2D2A IFT172 INPP5E KIAA0586
9 nervous system MP:0003631 10.17 AHI1 ARL13B B9D1 C2CD3 CC2D2A CEP290
10 renal/urinary system MP:0005367 9.96 RPGRIP1L TMEM67 AHI1 B9D1 CC2D2A CEP290
11 liver/biliary system MP:0005370 9.88 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
12 respiratory system MP:0005388 9.76 ARL13B B9D2 CC2D2A CEP290 IFT172 MKS1
13 skeleton MP:0005390 9.56 CEP290 IFT172 INPP5E KIAA0586 MKS1 OFD1
14 vision/eye MP:0005391 9.28 AHI1 B9D1 CC2D2A CEP290 IFT172 INPP5E

Drugs & Therapeutics for Joubert Syndrome 1

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Nutraceutical Phase 4 9000-38-8
2 Antibodies Phase 2,Phase 1
3 Autoantibodies Phase 2,Phase 1
4 Immunoglobulins Phase 2,Phase 1
5 Hylan Phase 2
6 Protective Agents Phase 2
7 Viscosupplements Phase 2
8 Adrenergic Agents Phase 1
9 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cryoenergy Or Radiofrequency for Pulmonary Vein Isolation Completed NCT00969735 Phase 4
2 Pilot Study of COR-1 in Heart Failure Completed NCT01391507 Phase 2
3 Hydros Joint Therapy and Hydros-TA Joint Therapy for Pain Associated With Knee Osteoarthritis (OA) Completed NCT01134406 Phase 2
4 Safety, Pharmacokinetic and Pharmacodynamic Study of COR-1, an Anti-ß1 Receptor Antibody Cyclopeptide Completed NCT01043146 Phase 1
5 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
6 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
7 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
8 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Joubert Syndrome 1

Genetic Tests for Joubert Syndrome 1

Genetic tests related to Joubert Syndrome 1:

id Genetic test Affiliating Genes
1 Joubert Syndrome 29
2 Joubert Syndrome 1 29
3 Joubert Syndrome 23 29
4 Agenesis of Cerebellar Vermis 29

Anatomical Context for Joubert Syndrome 1

MalaCards organs/tissues related to Joubert Syndrome 1:

39
Brain, Eye, Liver, Tongue, Kidney, Spinal Cord, Cerebellum

Publications for Joubert Syndrome 1

Variations for Joubert Syndrome 1

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

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 INPP5E p.Arg378Cys VAR_063012 rs121918130
2 INPP5E p.Arg435Gln VAR_063013 rs121918129
3 INPP5E p.Arg512Trp VAR_063014 rs374152018
4 INPP5E p.Arg515Trp VAR_063015 rs13297509
5 INPP5E p.Arg563His VAR_063016 rs121918128
6 INPP5E p.Lys580Glu VAR_063017
7 INPP5E p.Arg621Gln VAR_076892
8 INPP5E p.Gly286Arg VAR_077247 rs757936530
9 INPP5E p.Val303Met VAR_077248 rs746212325
10 INPP5E p.Arg345Ser VAR_077249
11 INPP5E p.Thr426Asn VAR_077250
12 INPP5E p.Tyr534Asp VAR_077252
13 INPP5E p.Arg585Cys VAR_077253 rs763992407
14 INPP5E p.Cys641Arg VAR_077254
15 KIAA0586 p.Asp566Val VAR_074596

ClinVar genetic disease variations for Joubert Syndrome 1:

6 (show top 50) (show all 93)
id Gene Variation Type Significance SNP ID Assembly Location
1 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
2 INPP5E NM_019892.5(INPP5E): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs13297509 GRCh37 Chromosome 9, 139326282: 139326282
3 INPP5E NM_019892.5(INPP5E): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs121918128 GRCh37 Chromosome 9, 139324843: 139324843
4 INPP5E NM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic rs121918129 GRCh37 Chromosome 9, 139327014: 139327014
5 INPP5E NM_019892.5(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
6 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
7 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
8 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
9 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
10 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
11 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh37 Chromosome 1, 5964776: 5964776
12 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh37 Chromosome 2, 202505638: 202505638
13 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
14 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic/Likely pathogenic rs386834149 GRCh37 Chromosome 12, 88513962: 88513962
15 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic/Likely pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
16 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh37 Chromosome 2, 27670411: 27670411
17 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh38 Chromosome 11, 74168485: 74168485
18 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
19 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
20 RPGRIP1L NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs) duplication Pathogenic rs778149316 GRCh38 Chromosome 16, 53652978: 53652978
21 RPGRIP1L NM_015272.4(RPGRIP1L): c.230+1G> A single nucleotide variant Likely pathogenic rs786204135 GRCh38 Chromosome 16, 53696150: 53696150
22 B9D2 NM_030578.3(B9D2): c.156_163delGGACATGG (p.Asp53Leufs) deletion Likely pathogenic rs786204189 GRCh37 Chromosome 19, 41863853: 41863860
23 TCTN2 NM_024809.4(TCTN2): c.1877T> A (p.Leu626Ter) single nucleotide variant Pathogenic rs786204788 GRCh37 Chromosome 12, 124191380: 124191380
24 KIAA0586 NM_001244189.1(KIAA0586): c.428delG (p.Arg143Lysfs) deletion Pathogenic rs534542684 GRCh38 Chromosome 14, 58432439: 58432439
25 KIAA0586 NM_001244189.1(KIAA0586): c.1413-1G> C single nucleotide variant Pathogenic rs757350052 GRCh38 Chromosome 14, 58456701: 58456701
26 KIAA0586 NM_001244189.1(KIAA0586): c.1159C> T (p.Gln387Ter) single nucleotide variant Pathogenic rs796052128 GRCh37 Chromosome 14, 58917335: 58917335
27 KIAA0586 NM_001244189.1(KIAA0586): c.863_864delAA (p.Gln288Argfs) deletion Pathogenic rs770566897 GRCh38 Chromosome 14, 58444072: 58444073
28 KIAA0586 NM_001244189.1(KIAA0586): c.1697A> T (p.Asp566Val) single nucleotide variant Pathogenic rs796052129 GRCh37 Chromosome 14, 58924652: 58924652
29 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh37 Chromosome 8, 94792831: 94792831
30 CEP290 NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs) deletion Pathogenic rs863224523 GRCh38 Chromosome 12, 88086416: 88086417
31 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
32 AHI1 NM_001134831.1(AHI1): c.1267C> T (p.Gln423Ter) single nucleotide variant Pathogenic rs777668842 GRCh38 Chromosome 6, 135455811: 135455811
33 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
34 INPP5E NM_019892.5(INPP5E): c.1897_1898delCA (p.Gln633Glufs) deletion Pathogenic rs863225199 GRCh38 Chromosome 9, 136429712: 136429713
35 INPP5E NM_019892.5(INPP5E): c.1760delT (p.Val587Glyfs) deletion Pathogenic rs775518991 GRCh38 Chromosome 9, 136430319: 136430319
36 INPP5E NM_019892.5(INPP5E): c.1754G> A (p.Arg585His) single nucleotide variant Pathogenic rs752300607 GRCh38 Chromosome 9, 136430325: 136430325
37 INPP5E NM_019892.5(INPP5E): c.1684A> G (p.Ser562Gly) single nucleotide variant Pathogenic rs863225197 GRCh38 Chromosome 9, 136430395: 136430395
38 INPP5E NM_019892.5(INPP5E): c.1577C> T (p.Pro526Leu) single nucleotide variant Pathogenic rs746867724 GRCh38 Chromosome 9, 136431090: 136431090
39 INPP5E NM_019892.5(INPP5E): c.1468G> T (p.Asp490Tyr) single nucleotide variant Pathogenic rs757222534 GRCh38 Chromosome 9, 136431905: 136431905
40 INPP5E NM_019892.5(INPP5E): c.1249T> C (p.Ser417Pro) single nucleotide variant Pathogenic rs863225202 GRCh38 Chromosome 9, 136432986: 136432986
41 INPP5E NM_019892.5(INPP5E): c.1162G> T (p.Val388Leu) single nucleotide variant Pathogenic rs863225201 GRCh38 Chromosome 9, 136433073: 136433073
42 INPP5E NM_019892.5(INPP5E): c.1154G> A (p.Cys385Tyr) single nucleotide variant Pathogenic rs863225200 GRCh38 Chromosome 9, 136433160: 136433160
43 INPP5E NM_019892.5(INPP5E): c.1064C> T (p.Thr355Met) single nucleotide variant Pathogenic rs863225198 GRCh38 Chromosome 9, 136433250: 136433250
44 INPP5E NM_019892.5(INPP5E): c.1021G> A (p.Gly341Ser) single nucleotide variant Pathogenic rs780882740 GRCh38 Chromosome 9, 136434050: 136434050
45 INPP5E NM_019892.5(INPP5E): c.944C> T (p.Pro315Leu) single nucleotide variant Pathogenic rs754637179 GRCh38 Chromosome 9, 136434127: 136434127
46 INPP5E NM_019892.5(INPP5E): c.907G> A (p.Val303Met) single nucleotide variant Pathogenic rs746212325 GRCh38 Chromosome 9, 136434769: 136434769
47 C2CD3 NM_001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu) single nucleotide variant Pathogenic rs150291837 GRCh38 Chromosome 11, 74049431: 74049431
48 C2CD3 NM_001286577.1(C2CD3): c.4951+1G> T single nucleotide variant Pathogenic rs863225151 GRCh38 Chromosome 11, 74074252: 74074252
49 TCTN2 NM_024809.4(TCTN2): c.71delG (p.Asp26Thrfs) deletion Pathogenic rs863225223 GRCh37 Chromosome 12, 124155858: 124155858
50 TCTN2 NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs) duplication Pathogenic rs863225222 GRCh37 Chromosome 12, 124155863: 124155863

Expression for Joubert Syndrome 1

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

Pathways for Joubert Syndrome 1

GO Terms for Joubert Syndrome 1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.93 CEP290 CSPP1 KIAA0586 MKS1 OFD1 RPGRIP1L
2 centriole GO:0005814 9.91 AHI1 C2CD3 CEP290 KIAA0586 MKS1 OFD1
3 ciliary basal body GO:0036064 9.85 AHI1 B9D1 B9D2 C2CD3 CEP290 IFT172
4 axoneme GO:0005930 9.78 ARL13B IFT172 INPP5E RPGRIP1L
5 ciliary membrane GO:0060170 9.7 ARL13B TCTN2 TMEM67
6 centriolar satellite GO:0034451 9.69 C2CD3 CEP290 OFD1
7 ciliary transition zone GO:0035869 9.61 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
8 MKS complex GO:0036038 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
9 cytoplasm GO:0005737 10.4 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
10 cell projection GO:0042995 10.32 AHI1 ARL13B B9D1 B9D2 C2CD3 CC2D2A
11 cytosol GO:0005829 10.31 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
12 cytoskeleton GO:0005856 10.22 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
13 centrosome GO:0005813 10.14 AHI1 B9D1 B9D2 C2CD3 CEP290 CSPP1
14 cilium GO:0005929 10.03 AHI1 ARL13B B9D2 CC2D2A CEP290 IFT172

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.8 ARL13B CC2D2A IFT172 MKS1 RPGRIP1L
2 smoothened signaling pathway GO:0007224 9.8 ARL13B B9D1 CC2D2A IFT172 KIAA0586 TCTN2
3 cell projection organization GO:0030030 9.77 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
4 heart looping GO:0001947 9.73 AHI1 ARL13B C2CD3 IFT172
5 non-motile cilium assembly GO:1905515 9.73 ARL13B C2CD3 CC2D2A IFT172 MKS1 RPGRIP1L
6 neural tube closure GO:0001843 9.72 CC2D2A IFT172 MKS1
7 camera-type eye development GO:0043010 9.7 B9D1 CC2D2A RPGRIP1L
8 embryonic digit morphogenesis GO:0042733 9.69 B9D1 C2CD3 MKS1
9 regulation of smoothened signaling pathway GO:0008589 9.67 C2CD3 IFT172 MKS1 RPGRIP1L
10 left/right axis specification GO:0070986 9.63 AHI1 ARL13B IFT172
11 motile cilium assembly GO:0044458 9.58 CC2D2A MKS1
12 hindbrain development GO:0030902 9.57 AHI1 CEP290
13 head development GO:0060322 9.56 MKS1 RPGRIP1L
14 embryonic brain development GO:1990403 9.54 CC2D2A MKS1
15 regulation of establishment of protein localization GO:0070201 9.49 CEP290 KIAA0586
16 neural tube patterning GO:0021532 9.48 ARL13B RPGRIP1L
17 ciliary basal body docking GO:0097711 9.4 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
18 cilium assembly GO:0060271 10.06 AHI1 ARL13B B9D1 B9D2 C2CD3 CC2D2A

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

id Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.96 B9D2 OFD1
2 filamin binding GO:0031005 8.62 MICALL2 TMEM67

Sources for Joubert Syndrome 1

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