JBTS1
MCID: JBR020
MIFTS: 68

Joubert Syndrome 1 (JBTS1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 1

MalaCards integrated aliases for Joubert Syndrome 1:

Name: Joubert Syndrome 1 57 12 53 75 29 13 6 15
Joubert Syndrome 57 12 76 24 53 25 54 59 75 37 29 6 15 40
Cerebellooculorenal Syndrome 1 57 12 53 25 75
Jbts 57 12 24 25 75
Cerebelloparenchymal Disorder Iv 57 12 59 75
Joubert-Boltshauser Syndrome 57 53 59 75
Jbts1 57 12 53 75
Cors1 57 12 53 75
Cpd4 57 12 53 75
Familial Aplasia of the Vermis 25 73
Cerebelloparenchymal Disorder Iv; Cpd4 57
Cerebellooculorenal Syndrome 1; Cors1 57
Joubert Syndromerelated Disorders 24
Cerebello-Oculo-Renal Syndrome 1 75
Cerebelloparenchymal Disorder 4 53
Cerebello-Oculo-Renal Syndrome 25
Agenesis of Cerebellar Vermis 25
Joubert-Bolthauser Syndrome 25
Cerebellar Vermis Agenesis 53
Classic Joubert Syndrome 59
Joubert Syndrome, Type 1 40
Joubert Syndrome Type a 59
Joubert Syndrome; Jbts 57
Pure Joubert Syndrome 59
Cpd Iv 59
Jsrd 24
Cors 25
Js 24

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity


HPO:

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


Classifications:



Summaries for Joubert Syndrome 1

NINDS : 54 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 2 and joubert syndrome 6, and has symptoms including ataxia 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 brain, eye and tongue, and related phenotypes are low-set ears and hydrocephalus

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 : 53 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.

OMIM : 57 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 : 75 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.

Wikipedia : 76 Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of... more...

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
Joubert Syndrome 35

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

(show top 50) (show all 343)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 2 34.3 TMEM216 TMEM67
2 joubert syndrome 6 34.2 AHI1 CEP290 MKS1 TMEM67
3 joubert syndrome with oculorenal anomalies 34.2 CC2D2A CEP290 TMEM216 TMEM237
4 joubert syndrome 14 34.1 B9D1 B9D2 NPHP4 RPGRIP1L TMEM216 TMEM237
5 joubert syndrome 9 34.1 CEP41 CC2D2A
6 joubert syndrome 17 34.1 CPLANE1 CEP290
7 joubert syndrome with ocular anomalies 33.7 AHI1 CEP41 INPP5E MKS1
8 joubert syndrome with renal anomalies 33.6 RPGRIP1L TMEM237
9 orofaciodigital syndrome vi 33.3 CPLANE1 KIAA0753 OFD1 TMEM216
10 coach syndrome 32.6 CC2D2A INPP5E RPGRIP1L TMEM67
11 nephronophthisis 1 32.2 AHI1 NPHP4
12 nephronophthisis 31.1 AHI1 CC2D2A CEP290 INPP5E MKS1 NPHP4
13 congenital hepatic fibrosis 30.7 CC2D2A RPGRIP1L TMEM67
14 encephalocele 30.6 CC2D2A CEP290 MKS1 TMEM67
15 fundus dystrophy 30.5 AHI1 INPP5E CEP290 CC2D2A
16 meckel syndrome, type 1 30.5 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
17 bardet-biedl syndrome 30.4 CEP290 INPP5E MKS1 NPHP4 RPGRIP1L TMEM67
18 senior-loken syndrome 1 30.3 AHI1 CC2D2A CEP290 MKS1 NPHP4 TMEM216
19 pathologic nystagmus 30.3 TMEM67 MKS1 CEP290
20 cor triatriatum 12.7
21 cor triatriatum sinister 12.6
22 joubert syndrome 10 12.5
23 joubert syndrome 22 12.4
24 cor triatriatum dexter 12.4
25 joubert syndrome 5 12.4
26 joubert syndrome 23 12.4
27 joubert syndrome 3 12.4
28 joubert syndrome 4 12.4
29 joubert syndrome 15 12.4
30 joubert syndrome 21 12.4
31 joubert syndrome 16 12.4
32 joubert syndrome 18 12.4
33 joubert syndrome 8 12.4
34 joubert syndrome 7 12.4
35 joubert syndrome 24 12.3
36 joubert syndrome 25 12.3
37 joubert syndrome 26 12.3
38 joubert syndrome 13 12.3
39 joubert syndrome 20 12.3
40 isolated cerebellar vermis agenesis 12.3
41 isolated partial cerebellar vermis agenesis 12.3
42 isolated total cerebellar vermis agenesis 12.3
43 joubert syndrome 27 12.3
44 joubert syndrome 28 12.3
45 joubert syndrome 30 12.3
46 joubert syndrome 31 12.3
47 acute cor pulmonale 12.3
48 cor biloculare 12.2
49 joubert syndrome with jeune asphyxiating thoracic dystrophy 12.0
50 joubert syndrome 35 11.9

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:

57
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
chorioretinal coloboma
oculomotor apraxia
impaired smooth pursuit
epicanthal folds
more
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 Ears:
low-set ears
tilted ears

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypoplasia of the brainstem
hypotonia
mental retardation
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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
17 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
18 apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002104
19 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
20 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
21 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
22 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
23 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
24 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
25 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
26 polymicrogyria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002126
27 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
28 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
29 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
30 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
31 oculomotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000657
32 abnormality of the hypothalamus-pituitary axis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000864
33 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
34 episodic tachypnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002876
35 macrocephaly 32 HP:0000256
36 macroglossia 32 HP:0000158
37 prominent forehead 32 HP:0011220
38 malformation of the heart and great vessels 59 Occasional (29-5%)
39 epicanthus 32 HP:0000286
40 hepatic fibrosis 32 HP:0001395
41 abnormality of the foot 32 HP:0001760
42 abnormality of neuronal migration 59 Occasional (29-5%)
43 chorioretinal coloboma 32 HP:0000567
44 aggressive behavior 32 HP:0000718
45 protruding tongue 32 HP:0010808
46 retinal dysplasia 32 occasional (7.5%) HP:0007973
47 occipital myelomeningocele 32 occasional (7.5%) HP:0007271
48 optic nerve coloboma 32 HP:0000588
49 postaxial hand polydactyly 32 HP:0001162
50 generalized hypotonia 32 HP:0001290

UMLS symptoms related to Joubert Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 B9D1 B9D2 CC2D2A CEP290 CEP41 CPLANE1
2 cellular MP:0005384 10.32 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
3 growth/size/body region MP:0005378 10.31 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
4 craniofacial MP:0005382 10.27 B9D1 B9D2 CC2D2A CEP290 CPLANE1 INPP5E
5 embryo MP:0005380 10.27 B9D1 B9D2 CC2D2A CEP41 CPLANE1 INPP5E
6 digestive/alimentary MP:0005381 10.22 B9D1 B9D2 CC2D2A CPLANE1 INPP5E MKS1
7 mortality/aging MP:0010768 10.21 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
8 nervous system MP:0003631 10.2 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
9 limbs/digits/tail MP:0005371 10.14 B9D1 B9D2 CC2D2A CPLANE1 INPP5E KIAA0586
10 renal/urinary system MP:0005367 10.03 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
11 respiratory system MP:0005388 9.7 B9D2 CC2D2A CEP290 CPLANE1 MKS1 OFD1
12 skeleton MP:0005390 9.61 B9D2 CEP290 CPLANE1 INPP5E KIAA0586 MKS1
13 vision/eye MP:0005391 9.32 AHI1 B9D1 B9D2 CC2D2A CEP290 INPP5E

Drugs & Therapeutics for Joubert Syndrome 1

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

(show all 10)
# 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 Immunoglobulins Phase 2,Phase 1
4 Autoantibodies Phase 2,Phase 1
5 Hylan Phase 2
6 Protective Agents Phase 2
7 Viscosupplements Phase 2
8 Immunologic Factors Phase 1
9 Adrenergic Agents Phase 1
10 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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
8 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
9 The Effect of Thermotherapy on Recovery and Performance Active, not recruiting NCT02506283 Not Applicable
10 The Effect of Whole Body Cryotherapy on Recovery and Performance: a Randomized Controlled Trial Active, not recruiting NCT02847663 Not Applicable

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 29 CEP41 CPLANE1 RPGRIP1L TCTN2 TCTN3 TMEM138 TMEM231 TMEM237 TTC21B
2 Joubert Syndrome 1 29 INPP5E

Anatomical Context for Joubert Syndrome 1

MalaCards organs/tissues related to Joubert Syndrome 1:

41
Brain, Eye, Tongue, Liver, Kidney, Cerebellum, Spinal Cord

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 367)
# Title Authors Year
1
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. ( 29605658 )
2018
2
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. ( 29217415 )
2018
3
Late-onset hydrocephalus in a child with Joubert syndrome: a case report. ( 29508057 )
2018
4
Cerebellar cognitive affective syndrome: insights from Joubert syndrome. ( 29568536 )
2018
5
The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane. ( 29592971 )
2018
6
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. ( 29695797 )
2018
7
A Molar Tooth Brainstem With A Bat-Wing Fourth Ventricle: Joubert Syndrome. ( 29938446 )
2018
8
Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. ( 29955609 )
2018
9
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. ( 29987673 )
2018
10
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. ( 30055837 )
2018
11
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. ( 30120217 )
2018
12
Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules. ( 30120249 )
2018
13
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. ( 30269812 )
2018
14
The spectrum of sleep disordered breathing in Joubert Syndrome. ( 30359893 )
2018
15
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. ( 30403813 )
2018
16
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). ( 30423442 )
2018
17
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model. ( 30446612 )
2018
18
Missense variants in TMEM67 in a patient with Joubert syndrome. ( 30455918 )
2018
19
Review of Ocular Manifestations of Joubert Syndrome. ( 30518138 )
2018
20
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. ( 28771248 )
2018
21
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. ( 29112083 )
2018
22
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850). ( 29334628 )
2018
23
Joubert Syndrome with Orofacial Digital Features. ( 29456362 )
2018
24
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. ( 28505061 )
2017
25
Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E. ( 27927754 )
2017
26
An elusive ciliopathy: Joubert syndrome. ( 28667057 )
2017
27
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. ( 28625504 )
2017
28
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. ( 28125082 )
2017
29
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
30
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. ( 28052552 )
2017
31
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. ( 28431631 )
2017
32
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. ( 28220259 )
2017
33
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. ( 28965847 )
2017
34
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. ( 28102635 )
2017
35
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
36
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. ( 28719906 )
2017
37
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane. ( 27401686 )
2017
38
Diagnosis of Joubert syndrome via ultrasonography. ( 27785575 )
2017
39
An abnormal ocular motor manifestation of Joubert syndrome. ( 27866068 )
2017
40
Novel CC2D2A compound heterozygous mutations cause Joubert syndrome. ( 27959436 )
2017
41
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. ( 28087721 )
2017
42
Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome. ( 28228833 )
2017
43
Abnormal glycosylation in Joubert syndrome type 10. ( 28344780 )
2017
44
Mortality in Joubert syndrome. ( 28371402 )
2017
45
Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review. ( 28497078 )
2017
46
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. ( 28497568 )
2017
47
Fundus findings in a case of Joubert syndrome. ( 28513504 )
2017
48
Prenatal diagnosis of Joubert syndrome by ultrasound and magnetic resonance imaging - report of three cases. ( 28600062 )
2017
49
Joubert syndrome. ( 28604212 )
2017
50
Joubert Syndrome Associated with Seizures. ( 28799313 )
2017

Variations for Joubert Syndrome 1

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

75 (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 2635)
# 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 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh38 Chromosome 11, 61393965: 61393965
3 INPP5E NM_019892.5(INPP5E): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs13297509 GRCh37 Chromosome 9, 139326282: 139326282
4 INPP5E NM_019892.5(INPP5E): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs13297509 GRCh38 Chromosome 9, 136431830: 136431830
5 INPP5E NM_019892.5(INPP5E): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs121918128 GRCh37 Chromosome 9, 139324843: 139324843
6 INPP5E NM_019892.5(INPP5E): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs121918128 GRCh38 Chromosome 9, 136430391: 136430391
7 INPP5E NM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic rs121918129 GRCh37 Chromosome 9, 139327014: 139327014
8 INPP5E NM_019892.5(INPP5E): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic rs121918129 GRCh38 Chromosome 9, 136432562: 136432562
9 INPP5E NM_019892.5(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
10 INPP5E NM_019892.5(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
11 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
12 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
13 RPGRIP1L NM_015272.4(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh37 Chromosome 16, 53686756: 53686756
14 RPGRIP1L NM_015272.4(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh38 Chromosome 16, 53652844: 53652844
15 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
16 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh38 Chromosome 16, 53686524: 53686524
17 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
18 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
19 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
20 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
21 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
22 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
23 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
24 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
25 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh37 Chromosome 17, 56293449: 56293449
26 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh38 Chromosome 17, 58216088: 58216088
27 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
28 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh38 Chromosome 6, 135433125: 135433125
29 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh37 Chromosome 1, 5964776: 5964776
30 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh38 Chromosome 1, 5904716: 5904716
31 CEP41 NM_018718.2(CEP41): c.107T> C (p.Met36Thr) single nucleotide variant Uncertain significance rs368178632 GRCh37 Chromosome 7, 130056798: 130056798
32 CEP41 NM_018718.2(CEP41): c.107T> C (p.Met36Thr) single nucleotide variant Uncertain significance rs368178632 GRCh38 Chromosome 7, 130416957: 130416957
33 KIF7 NM_198525.2(KIF7): c.3986_3997delGACGAGCCAGCC (p.Arg1329_Ser1332del) deletion Uncertain significance rs780942335 GRCh38 Chromosome 15, 89628454: 89628465
34 KIF7 NM_198525.2(KIF7): c.3986_3997delGACGAGCCAGCC (p.Arg1329_Ser1332del) deletion Uncertain significance rs780942335 GRCh37 Chromosome 15, 90171685: 90171696
35 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh37 Chromosome 2, 202505638: 202505638
36 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh38 Chromosome 2, 201640915: 201640915
37 OFD1 NM_003611.2(OFD1): c.1923G> A (p.Glu641=) single nucleotide variant Benign rs145300245 GRCh37 Chromosome X, 13778502: 13778502
38 OFD1 NM_003611.2(OFD1): c.1923G> A (p.Glu641=) single nucleotide variant Benign rs145300245 GRCh38 Chromosome X, 13760383: 13760383
39 OFD1 NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys) single nucleotide variant Pathogenic rs312262818 GRCh37 Chromosome X, 13754745: 13754745
40 OFD1 NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys) single nucleotide variant Pathogenic rs312262818 GRCh38 Chromosome X, 13736626: 13736626
41 OFD1 NM_003611.2(OFD1): c.710delA (p.Lys237Serfs) deletion Pathogenic rs312262848 GRCh37 Chromosome X, 13764954: 13764954
42 OFD1 NM_003611.2(OFD1): c.710delA (p.Lys237Serfs) deletion Pathogenic rs312262848 GRCh38 Chromosome X, 13746835: 13746835
43 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh37 Chromosome 1, 215844420: 215844420
44 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh38 Chromosome 1, 215671078: 215671078
45 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh37 Chromosome 1, 216462627: 216462627
46 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh38 Chromosome 1, 216289285: 216289285
47 EXOC8 NM_175876.4(EXOC8): c.794A> G (p.Glu265Gly) single nucleotide variant Uncertain significance rs483352868 GRCh37 Chromosome 1, 231472698: 231472698
48 EXOC8 NM_175876.4(EXOC8): c.794A> G (p.Glu265Gly) single nucleotide variant Uncertain significance rs483352868 GRCh38 Chromosome 1, 231336952: 231336952
49 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
50 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930

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:

37
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Hedgehog signaling pathway hsa04340

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 centriole GO:0005814 9.98 AHI1 CEP290 CEP41 KIAA0586 KIAA0753 MKS1
2 ciliary transition zone GO:0035869 9.9 B9D1 B9D2 CC2D2A CEP290 CPLANE1 MKS1
3 cell-cell junction GO:0005911 9.84 AHI1 MICALL2 NPHP4 RPGRIP1L
4 bicellular tight junction GO:0005923 9.72 MICALL2 NPHP4 RPGRIP1L
5 photoreceptor connecting cilium GO:0032391 9.7 CEP290 NPHP4 RPGRIP1L
6 centriolar satellite GO:0034451 9.69 CEP290 KIAA0753 OFD1
7 ciliary basal body GO:0036064 9.65 AHI1 B9D1 B9D2 CEP290 CEP41 KIAA0586
8 non-motile cilium GO:0097730 9.56 AHI1 NPHP4
9 MKS complex GO:0036038 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
10 cytoplasm GO:0005737 10.43 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
11 cytosol GO:0005829 10.34 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
12 cell projection GO:0042995 10.32 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
13 cytoskeleton GO:0005856 10.25 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
14 centrosome GO:0005813 10.18 AHI1 B9D1 B9D2 CEP290 CEP41 KIAA0586
15 cilium GO:0005929 10.1 AHI1 B9D2 CC2D2A CEP290 CEP41 CPLANE1
16 microtubule organizing center GO:0005815 10.06 CEP290 CEP41 KIAA0586 KIAA0753 MKS1 NPHP4

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.8 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
2 G2/M transition of mitotic cell cycle GO:0000086 9.74 CEP290 CEP41 OFD1
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.69 CEP290 CEP41 OFD1
4 determination of left/right symmetry GO:0007368 9.65 CC2D2A MKS1 RPGRIP1L
5 camera-type eye development GO:0043010 9.63 B9D1 CC2D2A RPGRIP1L
6 smoothened signaling pathway GO:0007224 9.62 B9D1 CC2D2A KIAA0586 TCTN2
7 motile cilium assembly GO:0044458 9.59 CC2D2A MKS1
8 regulation of smoothened signaling pathway GO:0008589 9.58 MKS1 RPGRIP1L
9 hindbrain development GO:0030902 9.58 AHI1 CEP290
10 embryonic digit morphogenesis GO:0042733 9.58 B9D1 CPLANE1 MKS1
11 centriole replication GO:0007099 9.56 KIAA0753 OFD1
12 non-motile cilium assembly GO:1905515 9.56 CC2D2A MKS1 RPGRIP1L TMEM216
13 head development GO:0060322 9.55 MKS1 RPGRIP1L
14 establishment of planar polarity GO:0001736 9.54 CPLANE1 RPGRIP1L
15 embryonic brain development GO:1990403 9.52 CC2D2A MKS1
16 photoreceptor cell outer segment organization GO:0035845 9.49 AHI1 NPHP4
17 ciliary basal body-plasma membrane docking GO:0097711 9.44 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
18 regulation of establishment of protein localization GO:0070201 9.43 CEP290 KIAA0586
19 protein localization to ciliary transition zone GO:1904491 9.37 CC2D2A CPLANE1
20 cilium assembly GO:0060271 10.03 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41

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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