MCID: JBR020
MIFTS: 68

Joubert Syndrome 1

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

Aliases & Classifications for Joubert Syndrome 1

MalaCards integrated aliases for Joubert Syndrome 1:

Name: Joubert Syndrome 1 53 12 49 71 28 13
Joubert Syndrome 53 12 72 23 49 24 50 55 71 36 28 14
Cerebellooculorenal Syndrome 1 53 12 49 24 71
Jbts 53 12 23 24 71
Cerebelloparenchymal Disorder Iv 53 12 55 71
Joubert-Boltshauser Syndrome 53 49 55 71
Jbts1 53 12 49 71
Cors1 53 12 49 71
Cpd4 53 12 49 71
Familial Aplasia of the Vermis 24 69
Agenesis of Cerebellar Vermis 24 28
Cerebelloparenchymal Disorder Iv; Cpd4 53
Cerebellooculorenal Syndrome 1; Cors1 53
Joubert Syndromerelated Disorders 23
Cerebello-Oculo-Renal Syndrome 1 71
Cerebelloparenchymal Disorder 4 49
Cerebello-Oculo-Renal Syndrome 24
Joubert-Bolthauser Syndrome 24
Cerebellar Vermis Agenesis 49
Classic Joubert Syndrome 55
Joubert Syndrome Type a 55
Joubert Syndrome; Jbts 53
Pure Joubert Syndrome 55
Cpd Iv 55
Jsrd 23
Cors 24
Js 23

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity


HPO:

31
joubert syndrome 1:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 1

NINDS : 50 Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - 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 NPHP1, AHI1, and CEP290.

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 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 Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Kava and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and tongue, and related phenotypes are cellular and growth/size/body region

OMIM : 53 Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). (213300)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 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

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.

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.

GeneReviews: NBK1325

Related Diseases for Joubert Syndrome 1

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with oculorenal anomalies 34.5 CC2D2A CEP290 TMEM216 TMEM237
2 coach syndrome 32.9 CC2D2A INPP5E RPGRIP1L TMEM67
3 cor triatriatum 12.5
4 cor triatriatum sinister 12.5
5 cor triatriatum dexter 12.4
6 joubert syndrome 2 12.3
7 joubert syndrome 23 12.3
8 joubert syndrome 17 12.3
9 joubert syndrome 6 12.2
10 joubert syndrome 10 12.2
11 joubert syndrome 5 12.2
12 joubert syndrome 21 12.2
13 joubert syndrome 4 12.2
14 joubert syndrome 14 12.2
15 joubert syndrome 15 12.2
16 joubert syndrome 16 12.2
17 joubert syndrome 18 12.2
18 joubert syndrome 24 12.2
19 joubert syndrome 25 12.2
20 joubert syndrome 26 12.2
21 isolated cerebellar vermis agenesis 12.2
22 isolated partial cerebellar vermis agenesis 12.2
23 isolated total cerebellar vermis agenesis 12.2
24 joubert syndrome 3 12.2
25 joubert syndrome 7 12.2
26 joubert syndrome 9 12.2
27 joubert syndrome 8 12.2
28 joubert syndrome 13 12.2
29 joubert syndrome 20 12.2
30 joubert syndrome 27 12.2
31 joubert syndrome 28 12.2
32 joubert syndrome 22 12.2
33 acute cor pulmonale 12.1
34 joubert syndrome 30 12.1
35 cor biloculare 12.1
36 pulmonary alveolar microlithiasis 11.2
37 polydactyly cleft lip palate psychomotor retardation 11.1
38 acrocallosal syndrome 11.1
39 nephronophthisis 1 10.9
40 joubert syndrome 32 10.9
41 joubert syndrome 33 10.9
42 joubert syndrome with ocular anomalies 10.8 AHI1 CEP41 INPP5E MKS1
43 bardet-biedl syndrome 13 10.7 AHI1 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
44 hydrolethalus syndrome 1 10.7 AHI1 MKS1 OFD1 TMEM216 TMEM67
45 orofaciodigital syndrome vi 10.7 ARL13B C5orf42 OFD1 TMEM216
46 congenital hepatic fibrosis 10.7 CC2D2A RPGRIP1L TMEM67
47 senior-loken syndrome 1 10.7 AHI1 ARL13B CC2D2A CEP290 MKS1 TMEM216
48 bardet-biedl syndrome 15 10.7 CC2D2A RPGRIP1L TMEM67
49 fundus dystrophy 10.7 AHI1 CC2D2A CEP290 INPP5E TMEM67
50 joubert syndrome with renal anomalies 10.7 RPGRIP1L TMEM237

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypoplasia of the brainstem
hypotonia
mental retardation
more
Head And Neck Ears:
low-set ears
tilted ears

Head And Neck Face:
prominent forehead
high rounded eyebrows
hemifacial spasms

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
self-mutilation
aggressiveness

Head And Neck Nose:
anteverted nostrils
upturned nose

Genitourinary Kidneys:
renal cysts (less common)

Skeletal Feet:
polydactyly, postaxial (less common)

Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
chorioretinal coloboma
oculomotor apraxia
impaired smooth pursuit
epicanthal folds
more
Head And Neck Mouth:
protruding tongue
triangular-shaped open mouth
rhythmic tongue movements
soft tissue tumors of the tongue (less common)

Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Abdomen Liver:
hepatic fibrosis (less common)

Skeletal Hands:
missing digital phalanges (less common)


Clinical features from OMIM:

213300

Human phenotypes related to Joubert Syndrome 1:

55 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
4 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
7 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
8 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
9 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
10 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
11 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
13 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
14 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
15 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
17 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
18 apnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002104
19 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
20 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
21 long face 55 31 frequent (33%) Frequent (79-30%) HP:0000276
22 hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001161
23 foot polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001829
24 highly arched eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0002553
25 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
26 polymicrogyria 55 31 occasional (7.5%) Occasional (29-5%) HP:0002126
27 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
28 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
29 situs inversus totalis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001696
30 encephalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002084
31 abnormality of the hypothalamus-pituitary axis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000864
32 cerebellar vermis hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001320
33 oculomotor apraxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000657
34 episodic tachypnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002876
35 macrocephaly 31 HP:0000256
36 macroglossia 31 HP:0000158
37 prominent forehead 31 HP:0011220
38 malformation of the heart and great vessels 55 Occasional (29-5%)
39 epicanthus 31 HP:0000286
40 hepatic fibrosis 31 HP:0001395
41 abnormality of the foot 31 HP:0001760
42 abnormality of neuronal migration 55 Occasional (29-5%)
43 chorioretinal coloboma 31 HP:0000567
44 protruding tongue 31 HP:0010808
45 retinal dysplasia 31 occasional (7.5%) HP:0007973
46 occipital myelomeningocele 31 occasional (7.5%) HP:0007271
47 aggressive behavior 31 HP:0000718
48 optic nerve coloboma 31 HP:0000588
49 postaxial hand polydactyly 31 HP:0001162
50 hyperactivity 31 HP:0000752

UMLS symptoms related to Joubert Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 1:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AHI1 B9D1 B9D2 C2CD3 C5orf42 CC2D2A
2 growth/size/body region MP:0005378 10.31 AHI1 ARL13B B9D1 B9D2 C5orf42 CC2D2A
3 cardiovascular system MP:0005385 10.3 TMEM67 B9D1 C2CD3 C5orf42 CC2D2A CEP290
4 embryo MP:0005380 10.27 ARL13B B9D1 C2CD3 C5orf42 CC2D2A CEP41
5 digestive/alimentary MP:0005381 10.26 B9D1 B9D2 C5orf42 CC2D2A IFT172 INPP5E
6 craniofacial MP:0005382 10.24 RPGRIP1L TCTN2 TMEM67 B9D1 C5orf42 CC2D2A
7 mortality/aging MP:0010768 10.24 AHI1 ARL13B B9D1 B9D2 C2CD3 C5orf42
8 nervous system MP:0003631 10.2 TCTN2 TMEM67 AHI1 ARL13B B9D1 C2CD3
9 limbs/digits/tail MP:0005371 10.14 CC2D2A IFT172 INPP5E MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 10 RPGRIP1L TMEM67 AHI1 B9D1 C5orf42 CC2D2A
11 respiratory system MP:0005388 9.81 ARL13B B9D2 C5orf42 CC2D2A CEP290 IFT172
12 skeleton MP:0005390 9.56 C5orf42 CEP290 IFT172 INPP5E MKS1 OFD1
13 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Kava Approved, Investigational, 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:


# Name Status NCT ID Phase Drugs
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 0.9 % sodium chloride;COR-1;Standard therapy for heart failure
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 COR-1;placebo
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:

# Genetic test Affiliating Genes
1 Joubert Syndrome 28 C5orf42 CEP41 INPP5E RPGRIP1L TCTN2 TCTN3 TMEM138 TMEM231 TMEM237 TTC21B
2 Joubert Syndrome 1 28 INPP5E
3 Agenesis of Cerebellar Vermis 28

Anatomical Context for Joubert Syndrome 1

MalaCards organs/tissues related to Joubert Syndrome 1:

38
Eye, Brain, Tongue, Liver, Kidney, Spinal Cord, Heart

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 297)
# Title Authors Year
1
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. ( 29217415 )
2017
2
An elusive ciliopathy: Joubert syndrome. ( 28667057 )
2017
3
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. ( 28125082 )
2017
4
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. ( 28052552 )
2017
5
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. ( 28505061 )
2017
6
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. ( 28965847 )
2017
7
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
8
Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E. ( 27927754 )
2017
9
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders. ( 28347285 )
2017
10
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. ( 28625504 )
2017
11
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. ( 28220259 )
2017
12
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. ( 28102635 )
2017
13
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. ( 28431631 )
2017
14
Prenylated retinal ciliopathy protein RPGR interacts with PDE6I' and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. ( 27554114 )
2016
15
Prenylated retinal ciliopathy protein RPGR interacts with PDE6I' and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. ( 28172980 )
2016
16
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. ( 27377014 )
2016
17
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. ( 26830932 )
2016
18
Joubert syndrome: genotyping a Northern European patient cohort. ( 25920555 )
2016
19
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. ( 27208211 )
2016
20
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. ( 27081566 )
2016
21
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. ( 26490104 )
2016
22
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. ( 27245168 )
2016
23
Enlarged intracranial translucency and molar tooth sign in the first-trimester as part of Joubert syndrome and related disorders (JSRD). ( 26748614 )
2016
24
Molecular genetic analysis of 30 families with Joubert syndrome. ( 27434533 )
2016
25
TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia. ( 28508964 )
2016
26
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. ( 27570071 )
2016
27
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. ( 27082236 )
2015
28
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. ( 26026149 )
2015
29
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. ( 26166658 )
2015
30
High-Resolution Diffusion Tensor Imaging and Tractography in Joubert Syndrome: Beyond Molar Tooth Sign. ( 25890865 )
2015
31
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. ( 26301811 )
2015
32
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. ( 26477546 )
2015
33
KIAA0586 is Mutated in Joubert Syndrome. ( 26096313 )
2015
34
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. ( 25877302 )
2015
35
A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation. ( 25448689 )
2015
36
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. ( 26714646 )
2015
37
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. ( 26500016 )
2015
38
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome. ( 26043505 )
2015
39
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. ( 26541515 )
2015
40
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. ( 27081551 )
2015
41
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). ( 26386247 )
2015
42
In response to the article "joubert syndrome imaging features and illustration of a case"; pol j radiol, 2015; 80: 381-83. ( 25908948 )
2015
43
Association of joubert syndrome and hirschsprung disease. ( 25638189 )
2015
44
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. ( 26386044 )
2015
45
Tectonic gene mutations in patients with Joubert syndrome. ( 25118024 )
2014
46
Anesthetic management of patients with Joubert syndrome: a retrospective analysis of a single-institutional case series. ( 25040301 )
2014
47
Structural insights into the small G-protein Arl13B and implications for Joubert syndrome. ( 24168557 )
2014
48
The molar tooth sign is pathognomonic for Joubert syndrome! ( 24731480 )
2014
49
Development of end-stage renal disease at a young age in two cases with Joubert syndrome. ( 25818971 )
2014
50
Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome. ( 25173907 )
2014

Variations for Joubert Syndrome 1

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

71 (show all 14)
# 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

ClinVar genetic disease variations for Joubert Syndrome 1:

6 (show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh37 Chromosome 2, 202505638: 202505638
2 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
3 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic/Likely pathogenic rs386834149 GRCh37 Chromosome 12, 88513962: 88513962
4 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic/Likely pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
5 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
6 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh37 Chromosome 2, 27670411: 27670411
7 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh38 Chromosome 11, 74168485: 74168485
8 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
9 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 GRCh37 Chromosome 4, 15517628: 15517628
10 RPGRIP1L NM_015272.4(RPGRIP1L): c.1709dupA (p.Asp571Glyfs) duplication Pathogenic rs778149316 GRCh38 Chromosome 16, 53652978: 53652978
11 RPGRIP1L NM_015272.4(RPGRIP1L): c.230+1G> A single nucleotide variant Likely pathogenic rs786204135 GRCh38 Chromosome 16, 53696150: 53696150
12 B9D2 NM_030578.3(B9D2): c.156_163delGGACATGG (p.Asp53Leufs) deletion Likely pathogenic rs786204189 GRCh38 Chromosome 19, 41357948: 41357955
13 TCTN2 NM_024809.4(TCTN2): c.1877T> A (p.Leu626Ter) single nucleotide variant Pathogenic rs786204788 GRCh37 Chromosome 12, 124191380: 124191380
14 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
15 INPP5E NM_019892.5(INPP5E): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs13297509 GRCh37 Chromosome 9, 139326282: 139326282
16 INPP5E NM_019892.5(INPP5E): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs121918128 GRCh37 Chromosome 9, 139324843: 139324843
17 INPP5E NM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic rs121918129 GRCh37 Chromosome 9, 139327014: 139327014
18 INPP5E NM_019892.5(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
19 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
20 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
21 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
22 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
23 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
24 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
25 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
26 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh37 Chromosome 1, 5964776: 5964776
27 TMEM67 NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser) single nucleotide variant Pathogenic/Likely pathogenic rs775883520 GRCh37 Chromosome 8, 94792831: 94792831
28 CEP290 NM_025114.3(CEP290): c.4276_4277delAA (p.Asn1426Terfs) deletion Pathogenic rs863224523 GRCh37 Chromosome 12, 88480193: 88480194
29 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
30 AHI1 NM_001134831.1(AHI1): c.1267C> T (p.Gln423Ter) single nucleotide variant Pathogenic rs777668842 GRCh38 Chromosome 6, 135455811: 135455811
31 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
32 INPP5E NM_019892.5(INPP5E): c.1897_1898delCA (p.Gln633Glufs) deletion Pathogenic rs863225199 GRCh38 Chromosome 9, 136429712: 136429713
33 INPP5E NM_019892.5(INPP5E): c.1760delT (p.Val587Glyfs) deletion Pathogenic rs775518991 GRCh38 Chromosome 9, 136430319: 136430319
34 INPP5E NM_019892.5(INPP5E): c.1754G> A (p.Arg585His) single nucleotide variant Pathogenic rs752300607 GRCh38 Chromosome 9, 136430325: 136430325
35 INPP5E NM_019892.5(INPP5E): c.1684A> G (p.Ser562Gly) single nucleotide variant Pathogenic rs863225197 GRCh38 Chromosome 9, 136430395: 136430395
36 INPP5E NM_019892.5(INPP5E): c.1577C> T (p.Pro526Leu) single nucleotide variant Pathogenic rs746867724 GRCh38 Chromosome 9, 136431090: 136431090
37 INPP5E NM_019892.5(INPP5E): c.1468G> T (p.Asp490Tyr) single nucleotide variant Pathogenic rs757222534 GRCh38 Chromosome 9, 136431905: 136431905
38 INPP5E NM_019892.5(INPP5E): c.1249T> C (p.Ser417Pro) single nucleotide variant Pathogenic rs863225202 GRCh38 Chromosome 9, 136432986: 136432986
39 INPP5E NM_019892.5(INPP5E): c.1162G> T (p.Val388Leu) single nucleotide variant Pathogenic rs863225201 GRCh38 Chromosome 9, 136433073: 136433073
40 INPP5E NM_019892.5(INPP5E): c.1154G> A (p.Cys385Tyr) single nucleotide variant Pathogenic rs863225200 GRCh38 Chromosome 9, 136433160: 136433160
41 INPP5E NM_019892.5(INPP5E): c.1064C> T (p.Thr355Met) single nucleotide variant Pathogenic rs863225198 GRCh38 Chromosome 9, 136433250: 136433250
42 INPP5E NM_019892.5(INPP5E): c.1021G> A (p.Gly341Ser) single nucleotide variant Pathogenic rs780882740 GRCh38 Chromosome 9, 136434050: 136434050
43 INPP5E NM_019892.5(INPP5E): c.944C> T (p.Pro315Leu) single nucleotide variant Pathogenic rs754637179 GRCh38 Chromosome 9, 136434127: 136434127
44 INPP5E NM_019892.5(INPP5E): c.907G> A (p.Val303Met) single nucleotide variant Pathogenic rs746212325 GRCh38 Chromosome 9, 136434769: 136434769
45 C2CD3 NM_001286577.1(C2CD3): c.5267G> A (p.Gly1756Glu) single nucleotide variant Pathogenic rs150291837 GRCh38 Chromosome 11, 74049431: 74049431
46 C2CD3 NM_001286577.1(C2CD3): c.4951+1G> T single nucleotide variant Pathogenic rs863225151 GRCh38 Chromosome 11, 74074252: 74074252
47 TCTN2 NM_024809.4(TCTN2): c.71delG (p.Asp26Thrfs) deletion Pathogenic rs863225223 GRCh37 Chromosome 12, 124155858: 124155858
48 TCTN2 NM_024809.4(TCTN2): c.76dupG (p.Asp26Glyfs) duplication Pathogenic rs863225222 GRCh37 Chromosome 12, 124155863: 124155863
49 TCTN2 NM_024809.4(TCTN2): c.613G> T (p.Gly205Cys) single nucleotide variant Pathogenic rs201827132 GRCh37 Chromosome 12, 124171431: 124171431
50 TCTN2 NM_024809.4(TCTN2): c.1291G> T (p.Glu431Ter) single nucleotide variant Pathogenic rs863225221 GRCh37 Chromosome 12, 124179823: 124179823

Expression for Joubert Syndrome 1

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

Pathways for Joubert Syndrome 1

Pathways related to Joubert Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070

GO Terms for Joubert Syndrome 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.92 CEP290 CEP41 MKS1 OFD1 RPGRIP1L
2 centriole GO:0005814 9.91 AHI1 C2CD3 CEP290 CEP41 MKS1 OFD1
3 ciliary basal body GO:0036064 9.85 AHI1 B9D1 B9D2 C2CD3 CEP290 CEP41
4 axoneme GO:0005930 9.76 ARL13B IFT172 INPP5E RPGRIP1L
5 cell-cell junction GO:0005911 9.73 AHI1 MICALL2 RPGRIP1L
6 ciliary membrane GO:0060170 9.69 ARL13B TCTN2 TMEM67
7 centriolar satellite GO:0034451 9.67 C2CD3 CEP290 OFD1
8 ciliary transition zone GO:0035869 9.65 B9D1 B9D2 C5orf42 CC2D2A CEP290 MKS1
9 MKS complex GO:0036038 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
10 membrane GO:0016020 10.42 ARL13B B9D1 B9D2 C5orf42 CEP290 CEP41
11 cytoplasm GO:0005737 10.38 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
12 cytosol GO:0005829 10.35 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
13 cell projection GO:0042995 10.3 AHI1 ARL13B B9D1 B9D2 C2CD3 C5orf42
14 cytoskeleton GO:0005856 10.24 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
15 cilium GO:0005929 10.13 AHI1 ARL13B B9D2 C5orf42 CC2D2A CEP290
16 centrosome GO:0005813 10.1 AHI1 B9D1 B9D2 C2CD3 CEP290 CEP41

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.8 ARL13B CC2D2A IFT172 MKS1 RPGRIP1L
2 cell projection organization GO:0030030 9.8 AHI1 B9D1 B9D2 C2CD3 C5orf42 CC2D2A
3 heart looping GO:0001947 9.78 AHI1 ARL13B C2CD3 IFT172
4 G2/M transition of mitotic cell cycle GO:0000086 9.77 CEP290 CEP41 OFD1
5 embryonic digit morphogenesis GO:0042733 9.76 B9D1 C2CD3 C5orf42 MKS1
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.73 CEP290 CEP41 OFD1
7 non-motile cilium assembly GO:1905515 9.73 ARL13B C2CD3 CC2D2A IFT172 MKS1 RPGRIP1L
8 neural tube closure GO:0001843 9.72 CC2D2A IFT172 MKS1
9 smoothened signaling pathway GO:0007224 9.72 ARL13B B9D1 CC2D2A IFT172 TCTN2
10 camera-type eye development GO:0043010 9.7 B9D1 CC2D2A RPGRIP1L
11 regulation of smoothened signaling pathway GO:0008589 9.67 C2CD3 IFT172 MKS1 RPGRIP1L
12 left/right axis specification GO:0070986 9.61 AHI1 ARL13B IFT172
13 motile cilium assembly GO:0044458 9.59 CC2D2A MKS1
14 hindbrain development GO:0030902 9.58 AHI1 CEP290
15 head development GO:0060322 9.58 MKS1 RPGRIP1L
16 establishment of planar polarity GO:0001736 9.57 C5orf42 RPGRIP1L
17 embryonic brain development GO:1990403 9.54 CC2D2A MKS1
18 neural tube patterning GO:0021532 9.51 ARL13B RPGRIP1L
19 protein localization to ciliary transition zone GO:1904491 9.49 C5orf42 CC2D2A
20 ciliary basal body-plasma membrane docking GO:0097711 9.44 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
21 cilium assembly GO:0060271 10.09 AHI1 ARL13B B9D1 B9D2 C2CD3 C5orf42

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

# 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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