JBTS1
MCID: JBR020
MIFTS: 72

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 56 12 52 73 29 13 6 15
Joubert Syndrome 56 12 74 24 52 25 53 58 73 36 29 6 15 39
Cerebellooculorenal Syndrome 1 56 12 52 25 73
Jbts 56 12 24 25 73
Cerebelloparenchymal Disorder Iv 56 12 58 73
Joubert-Boltshauser Syndrome 56 52 58 73
Jbts1 56 12 52 73
Cors1 56 12 52 73
Cpd4 56 12 52 73
Joubert Syndrome and Related Disorders 58 29 6
Cerebello-Oculo-Renal Syndrome 25 6
Familial Aplasia of the Vermis 25 71
Jsrd 24 58
Cerebelloparenchymal Disorder Iv; Cpd4 56
Cerebellooculorenal Syndrome 1; Cors1 56
Joubert Syndrome Related Disorders 24
Cerebello-Oculo-Renal Syndrome 1 73
Cerebelloparenchymal Disorder 4 52
Agenesis of Cerebellar Vermis 25
Joubert-Bolthauser Syndrome 25
Cerebellar Vermis Agenesis 52
Classic Joubert Syndrome 58
Joubert Syndrome, Type 1 39
Joubert Syndrome Type a 58
Joubert Syndrome; Jbts 56
Pure Joubert Syndrome 58
Cpd Iv 58
Cors 25
Js 24

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Netherlands); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;
joubert syndrome and related disorders
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity


HPO:

31
joubert syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Joubert Syndrome 1

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. The hallmark feature of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of structures near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI. Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which contributes to difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal eye movements (ocular motor apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive facial features can also occur in Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes (hypertelorism), low-set ears, and a triangle-shaped mouth. Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, which is a gap or split in a structure of the eye), kidney disease (including polycystic kidney disease and nephronophthisis), liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems. A combination of the characteristic features of Joubert syndrome and one or more of these additional signs and symptoms once characterized several separate disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the molar tooth sign, including those with these additional signs and symptoms, are usually considered Joubert syndrome.

MalaCards based summary : Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 3 and joubert syndrome 4, 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 Sumatriptan and Naproxen have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and kidney, and related phenotypes are intellectual disability and ataxia

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.

NIH Rare Diseases : 52 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 : 56 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)

NINDS : 53 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.

KEGG : 36 Joubert syndrome and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. Joubert syndrome is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.

UniProtKB/Swiss-Prot : 73 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 : 74 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 Joubert Syndrome 36

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

(show top 50) (show all 709)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 3 36.3 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
2 joubert syndrome 4 36.2 TMEM67 TMEM237 TMEM216 TCTN2 RPGRIP1L OFD1
3 joubert syndrome 5 36.1 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
4 joubert syndrome 2 36.0 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP290
5 joubert syndrome 7 35.9 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
6 joubert syndrome 6 35.9 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
7 joubert syndrome 10 35.8 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 CC2D2A
8 joubert syndrome 8 35.8 TMEM67 TMEM216 RPGRIP1L OFD1 CEP290 CC2D2A
9 joubert syndrome 14 35.8 TMEM237 TMEM231 TMEM216 RPGRIP1L NPHP4 B9D2
10 joubert syndrome 9 35.6 TMEM67 TMEM216 RPGRIP1L CEP41 CEP290 CC2D2A
11 orofaciodigital syndrome vi 35.6 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
12 joubert syndrome 24 35.6 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1 AHI1
13 joubert syndrome 20 35.5 TMEM67 TMEM237 TMEM231 NPHP4 INPP5E
14 joubert syndrome 15 35.4 TMEM237 TCTN2 KIAA0586 CEP41
15 joubert syndrome 13 35.4 TMEM67 TMEM216 TCTN2 CC2D2A
16 joubert syndrome 16 35.4 TMEM231 TMEM216 CEP41
17 joubert syndrome 23 35.2 KIAA0586 CEP41
18 nephronophthisis 14 35.1 TMEM67 TCTN2 RPGRIP1L NPHP4 CEP290 CC2D2A
19 arima syndrome 35.0 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
20 nephronophthisis 34.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
21 acrocallosal syndrome 34.5 TMEM216 RPGRIP1L AHI1
22 nephronophthisis 12 34.4 NPHP4 CEP41 CEP290
23 coach syndrome 33.7 TMEM67 RPGRIP1L INPP5E CC2D2A
24 nephronophthisis 1 33.5 NPHP4 MKS1 B9D2 B9D1 AHI1
25 fundus dystrophy 33.4 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
26 coloboma of macula 33.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
27 meckel syndrome, type 1 33.2 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
28 bardet-biedl syndrome 33.0 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
29 apraxia 32.9 TMEM67 TMEM216 TCTN2 RPGRIP1L CPLANE1 CEP290
30 meckel syndrome, type 3 32.8 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
31 cystic kidney disease 32.7 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
32 ciliopathy 32.7 TMEM67 RPGRIP1L NPHP4 KIAA0586 C2CD3
33 senior-loken syndrome 1 32.6 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
34 polydactyly 32.6 MKS1 KIAA0586 INPP5E IFT172
35 orofaciodigital syndrome 32.5 TMEM67 TMEM231 TMEM216 TCTN2 OFD1 NPHP4
36 encephalocele 32.4 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
37 leber congenital amaurosis 32.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 MKS1
38 pathologic nystagmus 32.3 TMEM67 MKS1 CEP290 AHI1
39 meckel syndrome, type 5 32.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
40 retinitis pigmentosa 32.2 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 MKS1
41 polycystic kidney disease 4 with or without polycystic liver disease 32.1 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
42 meckel syndrome, type 4 32.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
43 congenital hepatic fibrosis 32.0 TMEM67 RPGRIP1L CC2D2A AHI1
44 retinal degeneration 32.0 TMEM67 RPGRIP1L NPHP4 IFT172 CEP290
45 short-rib thoracic dysplasia 1 with or without polydactyly 31.9 TMEM67 RPGRIP1L OFD1 KIAA0586 IFT172 CC2D2A
46 orofaciodigital syndrome i 31.9 OFD1 CEP290
47 nephronophthisis 2 31.8 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 MKS1
48 hydrolethalus syndrome 1 31.8 TMEM67 TMEM216 RPGRIP1L MKS1 KIAA0586 CEP41
49 asphyxiating thoracic dystrophy 31.6 RPGRIP1L NPHP4 KIAA0586 IFT172
50 visceral heterotaxy 31.6 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4

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



Diseases related to Joubert Syndrome 1

Symptoms & Phenotypes for Joubert Syndrome 1

Human phenotypes related to Joubert Syndrome 1:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
6 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
7 episodic tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002876
8 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
9 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
12 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
13 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
14 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
15 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
18 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
19 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
20 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
21 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
24 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
27 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
28 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
29 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
30 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
31 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
32 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
33 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
34 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
35 renal cyst 31 occasional (7.5%) HP:0000107
36 retinal dysplasia 31 occasional (7.5%) HP:0007973
37 occipital myelomeningocele 31 occasional (7.5%) HP:0007271
38 macrocephaly 31 HP:0000256
39 macroglossia 31 HP:0000158
40 hypoplasia of the brainstem 31 HP:0002365
41 central apnea 31 HP:0002871
42 prominent forehead 31 HP:0011220
43 hyperactivity 31 HP:0000752
44 generalized hypotonia 31 HP:0001290
45 malformation of the heart and great vessels 58 Occasional (29-5%)
46 epicanthus 31 HP:0000286
47 abnormal pattern of respiration 58 Very frequent (99-80%)
48 hepatic fibrosis 31 HP:0001395
49 abnormality of the foot 31 HP:0001760
50 abnormality of neuronal migration 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
chorioretinal coloboma
oculomotor apraxia
impaired smooth pursuit
epicanthal folds
more
Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

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
hypoplasia of the brainstem
cerebellar vermis hypoplasia
hypotonia
mental retardation
more
Head And Neck Face:
prominent forehead
high rounded eyebrows
hemifacial spasms

Head And Neck Mouth:
protruding tongue
triangular-shaped open mouth
rhythmic tongue movements
soft tissue tumors of the tongue (less common)

Abdomen Liver:
hepatic fibrosis (less common)

Skeletal Hands:
missing digital phalanges (less common)

Clinical features from OMIM:

213300

UMLS symptoms related to Joubert Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 B9D1 B9D2 C2CD3 CC2D2A CEP290 CEP41
2 cellular MP:0005384 10.41 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
3 embryo MP:0005380 10.33 B9D1 B9D2 C2CD3 CC2D2A CEP41 CPLANE1
4 craniofacial MP:0005382 10.31 B9D1 B9D2 CC2D2A CEP290 CPLANE1 IFT172
5 growth/size/body region MP:0005378 10.28 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
6 nervous system MP:0003631 10.28 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
7 mortality/aging MP:0010768 10.27 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
8 limbs/digits/tail MP:0005371 10.25 B9D1 B9D2 C2CD3 CC2D2A CPLANE1 IFT172
9 digestive/alimentary MP:0005381 10.22 B9D1 B9D2 CC2D2A CPLANE1 IFT172 INPP5E
10 renal/urinary system MP:0005367 10.07 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
11 respiratory system MP:0005388 9.76 B9D2 CC2D2A CEP290 CPLANE1 IFT172 MKS1
12 skeleton MP:0005390 9.65 B9D2 CEP290 CPLANE1 IFT172 INPP5E KIAA0586
13 vision/eye MP:0005391 9.44 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1

Drugs & Therapeutics for Joubert Syndrome 1

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
2
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
3 Anti-Inflammatory Agents Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Anti-Inflammatory Agents, Non-Steroidal Phase 4
6 Neurotransmitter Agents Phase 4
7 Vasoconstrictor Agents Phase 4
8 Cyclooxygenase Inhibitors Phase 4
9 Serotonin Agents Phase 4
10 Serotonin 5-HT1 Receptor Agonists Phase 4
11 Antirheumatic Agents Phase 4
12 Serotonin Receptor Agonists Phase 4
13 Analgesics Phase 4
14
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
15
Fluorouracil Approved Phase 1 51-21-8 3385
16
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
17 Protein Kinase Inhibitors Phase 1
18 Immunologic Factors Phase 1
19 Immunosuppressive Agents Phase 1
20 Antimetabolites Phase 1
21
Metronidazole Approved 443-48-1 4173
22 Liver Extracts
23 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Study to Evaluate "Completeness of Response" Following Treatment With Treximet™ for Migraine Completed NCT00893737 Phase 4 sumatriptan succinate 85 mg/naproxen sodium 500 mg (Treximet)
2 Phase I Study of Pre-operative Continuous 5-FU, and Sorafenib With External Radiation Therapy in Locally Advanced Rectal Adenocarcinoma Completed NCT01376453 Phase 1 Sorafenib;5-Fluorouracil (5-FU)
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
6 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
7 A Clinical Validation Study of Two Computerized Systems Called the 3D-Colonoscopy Progression Score and 3D-Colonoscopy Retraction Score Completed NCT03587935
8 A Validation Study of the 3D-CoPS and 3D-CoRS and Its Relationship With an International Acknowledged Assessment Tool (ETS) in Simulated Colonoscopy Completed NCT03401723
9 Nursing Consultation in Out-patient Clinics for Patients With Inflammatory Rheumatic Disease Completed NCT00403676
10 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847

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
3 Joubert Syndrome and Related Disorders 29

Anatomical Context for Joubert Syndrome 1

MalaCards organs/tissues related to Joubert Syndrome 1:

40
Brain, Liver, Kidney, Eye, Heart, Tongue, Cerebellum

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 772)
# Title Authors PMID Year
1
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 61 24 56 6
19668216 2009
2
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. 61 24 6
27245168 2016
3
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 61 24 6
26714646 2015
4
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 61 24 6
26477546 2015
5
KIAA0586 is Mutated in Joubert Syndrome. 61 24 6
26096313 2015
6
Mutations in TMEM231 cause Joubert syndrome in French Canadians. 61 24 6
23012439 2012
7
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 61 24 6
22425360 2012
8
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 61 24 6
22246503 2012
9
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 61 24 6
21633164 2011
10
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 61 24 6
21725307 2011
11
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61 24 6
19574260 2010
12
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 61 24 6
19508969 2009
13
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 61 24 6
19058225 2009
14
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 61 24 6
18674751 2008
15
The face of Joubert syndrome: a study of dysmorphology and anthropometry. 61 24 56
18000967 2007
16
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 61 24 6
17160906 2007
17
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 61 24 6
16541367 2006
18
Clinical features and revised diagnostic criteria in Joubert syndrome. 61 24 56
10488903 1999
19
Joubert syndrome: a review. 61 24 56
1341417 1992
20
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 61 24 56
576733 1977
21
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 24 6
21565611 2011
22
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 24 56
19430481 2009
23
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 24 56
15786477 2005
24
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 24 6
2929661 1989
25
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 24 56
5816874 1969
26
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. 61 6
25877302 2015
27
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 61 6
25138100 2015
28
Tectonic gene mutations in patients with Joubert syndrome. 61 6
25118024 2015
29
Exome sequencing can improve diagnosis and alter patient management. 61 6
22700954 2012
30
Clinical utility gene card for: Joubert syndrome. 61 6
21448235 2011
31
Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome. 61 56
18412277 2008
32
Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. 61 56
15487006 2004
33
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. 61 56
12917796 2003
34
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. 61 56
12908130 2003
35
Joubert Syndrome 61 6
20301500 2003
36
Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. 61 56
11807898 2002
37
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. 61 56
11146468 2000
38
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. 61 56
10577920 1999
39
Joubert syndrome: monozygotic twins with discordant phenotypes. 61 56
10511337 1999
40
Neuropathology of Joubert syndrome. 61 56
10511338 1999
41
Cognition, behavior, and development in Joubert syndrome. 61 56
10488904 1999
42
Clinical and molecular analysis in Joubert syndrome. 61 56
9295076 1997
43
Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship. 61 56
1887836 1991
44
Joubert syndrome. Review of the fifty-three cases so far published. 61 56
2241092 1990
45
Joubert syndrome: a clinico-radiological study. 61 56
2352633 1990
46
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. 61 56
6747764 1984
47
Joubert syndrome: clinical and polygraphic observations in a further case. 61 56
7266779 1981
48
The Joubert syndrome associated with bilateral chorioretinal coloboma. 61 56
7439204 1980
49
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. 61 56
729929 1978
50
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 6
29891882 2018

Variations for Joubert Syndrome 1

ClinVar genetic disease variations for Joubert Syndrome 1:

6 (show top 50) (show all 1329) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs)duplication Pathogenic 156386 rs587783017 12:88449443-88449444 12:88055666-88055667
2 CC2D2A NM_001080522.2(CC2D2A):c.1017+1G>ASNV Pathogenic 166801 rs200407856 4:15517628-15517628 4:15516005-15516005
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
4 TCTN2 NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter)SNV Pathogenic 189247 rs786204788 12:124191380-124191380 12:123706833-123706833
5 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)deletion Pathogenic 204593 rs534542684 14:58899157-58899157 14:58432439-58432439
6 OFD1 NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs)short repeat Pathogenic 208769 rs797044945 X:13786199-13786203 X:13768080-13768084
7 CC2D2A NM_001080522.2(CC2D2A):c.4595_4596CT[1] (p.Leu1533fs)short repeat Pathogenic 242584 rs794729226 4:15601250-15601251 4:15599627-15599628
8 AHI1 NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)SNV Pathogenic 210113 rs797045223 6:135763771-135763771 6:135442633-135442633
9 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
10 CEP290 NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs)deletion Pathogenic 216126 rs863224523 12:88480193-88480194 12:88086416-88086417
11 INPP5E NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)deletion Pathogenic 217658 rs863225199 9:139324164-139324165 9:136429712-136429713
12 INPP5E NM_019892.6(INPP5E):c.1760del (p.Val587fs)deletion Pathogenic 217656 rs775518991 9:139324771-139324771 9:136430319-136430319
13 INPP5E NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)SNV Pathogenic 217657 rs752300607 9:139324777-139324777 9:136430325-136430325
14 INPP5E NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)SNV Pathogenic 217654 rs863225197 9:139324847-139324847 9:136430395-136430395
15 INPP5E NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)SNV Pathogenic 217660 rs746867724 9:139325542-139325542 9:136431090-136431090
16 INPP5E NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)SNV Pathogenic 217665 rs757222534 9:139326357-139326357 9:136431905-136431905
17 INPP5E NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)SNV Pathogenic 217664 rs863225202 9:139327438-139327438 9:136432986-136432986
18 INPP5E NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)SNV Pathogenic 217663 rs863225201 9:139327525-139327525 9:136433073-136433073
19 INPP5E NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)SNV Pathogenic 217659 rs863225200 9:139327612-139327612 9:136433160-136433160
20 INPP5E NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)SNV Pathogenic 217655 rs863225198 9:139327702-139327702 9:136433250-136433250
21 INPP5E NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)SNV Pathogenic 217661 rs780882740 9:139328502-139328502 9:136434050-136434050
22 AHI1 NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)SNV Pathogenic 217534 rs371637724 6:135769538-135769538 6:135448400-135448400
23 AHI1 NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)SNV Pathogenic 217523 rs777668842 6:135776949-135776949 6:135455811-135455811
24 C2CD3 NM_001286577.1(C2CD3):c.4951+1G>TSNV Pathogenic 217559 rs863225151 11:73785297-73785297 11:74074252-74074252
25 TCTN2 NM_024809.5(TCTN2):c.76del (p.Asp26fs)deletion Pathogenic 217701 rs863225222 12:124155858-124155858 12:123671311-123671311
26 TCTN2 NM_024809.5(TCTN2):c.76dup (p.Asp26fs)duplication Pathogenic 217700 rs863225222 12:124155857-124155858 12:123671310-123671311
27 TCTN2 NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)SNV Pathogenic 217702 rs201827132 12:124171431-124171431 12:123686884-123686884
28 TCTN2 NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)SNV Pathogenic 217699 rs863225221 12:124179823-124179823 12:123695276-123695276
29 TCTN2 NM_024809.5(TCTN2):c.1626del (p.Asp543fs)deletion Pathogenic 217697 rs863225220 12:124189092-124189092 12:123704545-123704545
30 TCTN2 NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)SNV Pathogenic 217698 rs201010803 12:124189217-124189217 12:123704670-123704670
31 CEP290 NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs)short repeat Pathogenic 217632 rs756302731 12:88476853-88476854 12:88083076-88083077
32 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
33 CEP290 NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs)short repeat Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838
34 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
35 CEP290 NM_025114.3(CEP290):c.2112delA (p.Val705Leufs)deletion Pathogenic 217627 rs863225183 12:88505576-88505576 12:88111799-88111799
36 CEP290 NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528
37 CEP290 NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs)duplication Pathogenic 217623 rs727503855 12:88512304-88512305 12:88118527-88118528
38 INPP5E NM_019892.6(INPP5E):c.907G>A (p.Val303Met)SNV Pathogenic 217653 rs746212325 9:139329221-139329221 9:136434769-136434769
39 B9D1 NM_015681.5(B9D1):c.466C>T (p.Arg156Trp)SNV Pathogenic 217554 rs369488112 17:19247109-19247109 17:19343796-19343796
40 MKS1 NM_001165927.1(MKS1):c.1559-2A>TSNV Pathogenic 217678 rs863225207 17:56283533-56283533 17:58206172-58206172
41 MKS1 NM_001165927.1(MKS1):c.1498dup (p.Arg500fs)duplication Pathogenic 217673 rs863225204 17:56283703-56283704 17:58206342-58206343
42 MKS1 NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser)SNV Pathogenic 217681 rs863225210 17:56285267-56285267 17:58207906-58207906
43 MKS1 NM_001165927.1(MKS1):c.351del (p.Tyr118fs)deletion Pathogenic 217676 rs863225206 17:56293485-56293485 17:58216124-58216124
44 MKS1 NM_001165927.1(MKS1):c.232-179_232-37deldeletion Pathogenic 217674 rs1555600644 17:56293641-56293783 17:58216280-58216422
45 MKS1 NM_001165927.1(MKS1):c.50+286G>TSNV Pathogenic 217675 rs863225205 17:56296537-56296537 17:58219176-58219176
46 B9D2 NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)SNV Pathogenic 217556 rs750436680 19:41860670-41860670 19:41354765-41354765
47 B9D2 NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)SNV Pathogenic 217558 rs863225150 19:41860913-41860913 19:41355008-41355008
48 B9D2 NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)SNV Pathogenic 217557 rs757863670 19:41863909-41863909 19:41358004-41358004
49 MKS1 NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu)SNV Pathogenic 217679 rs863225208 17:56288349-56288349 17:58210988-58210988
50 MKS1 NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs)insertion Pathogenic 217680 rs863225209 17:56290433-56290434 17:58213072-58213073

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

73 (show all 15)
# 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 INPP5E p.Gly522Ala VAR_081790 rs771866500

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
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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.38 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
2 cytosol GO:0005829 10.34 TMEM216 RPGRIP1L OFD1 NPHP4 MKS1 INPP5E
3 centrosome GO:0005813 10.18 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586
4 ciliary basal body GO:0036064 10.1 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586 IFT172
5 MKS complex GO:0036038 10.07 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CEP290
6 cilium GO:0005929 10.06 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L OFD1
7 ciliary transition zone GO:0035869 10.03 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L NPHP4
8 microtubule organizing center GO:0005815 10 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586 CEP41
9 centriole GO:0005814 9.98 OFD1 MKS1 KIAA0586 CEP41 CEP290 C2CD3
10 cytoskeleton GO:0005856 9.86 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
11 axoneme GO:0005930 9.72 RPGRIP1L INPP5E IFT172
12 centriolar satellite GO:0034451 9.71 OFD1 CEP290 C2CD3
13 ciliary membrane GO:0060170 9.69 TMEM67 TMEM231 TCTN2
14 photoreceptor connecting cilium GO:0032391 9.67 RPGRIP1L NPHP4 CEP290
15 cell projection GO:0042995 9.62 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 10 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
2 cell projection organization GO:0030030 9.86 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 OFD1
3 in utero embryonic development GO:0001701 9.84 TMEM231 RPGRIP1L C2CD3 B9D1
4 G2/M transition of mitotic cell cycle GO:0000086 9.8 OFD1 CEP41 CEP290
5 embryonic digit morphogenesis GO:0042733 9.8 TMEM231 MKS1 CPLANE1 C2CD3 B9D1
6 non-motile cilium assembly GO:1905515 9.8 TMEM216 RPGRIP1L MKS1 IFT172 CC2D2A C2CD3
7 smoothened signaling pathway GO:0007224 9.8 TMEM231 TCTN2 MKS1 KIAA0586 IFT172 CC2D2A
8 determination of left/right symmetry GO:0007368 9.78 RPGRIP1L MKS1 IFT172 CC2D2A
9 camera-type eye development GO:0043010 9.76 TMEM231 RPGRIP1L CC2D2A B9D1
10 neural tube closure GO:0001843 9.74 MKS1 IFT172 CC2D2A
11 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.73 OFD1 CEP41 CEP290
12 regulation of smoothened signaling pathway GO:0008589 9.73 RPGRIP1L MKS1 IFT172 C2CD3
13 heart looping GO:0001947 9.67 IFT172 C2CD3 AHI1
14 protein localization to ciliary transition zone GO:1904491 9.67 TCTN2 NPHP4 CPLANE1 CC2D2A
15 vasculature development GO:0001944 9.63 TMEM231 B9D1
16 motile cilium assembly GO:0044458 9.62 MKS1 CC2D2A
17 hindbrain development GO:0030902 9.61 CEP290 AHI1
18 head development GO:0060322 9.61 RPGRIP1L MKS1
19 cardiac septum development GO:0003279 9.6 MKS1 CPLANE1
20 establishment of planar polarity GO:0001736 9.59 RPGRIP1L CPLANE1
21 left/right axis specification GO:0070986 9.58 IFT172 AHI1
22 embryonic brain development GO:1990403 9.58 MKS1 CC2D2A
23 cilium assembly GO:0060271 9.58 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
24 photoreceptor cell outer segment organization GO:0035845 9.55 NPHP4 AHI1
25 regulation of establishment of protein localization GO:0070201 9.52 KIAA0586 CEP290
26 neuroepithelial cell differentiation GO:0060563 9.51 TMEM231 B9D1

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 8.62 OFD1 B9D2

Sources for Joubert Syndrome 1

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