MCID: JBR020
MIFTS: 67

Joubert Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological 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
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
Agenesis of Cerebellar Vermis 25 6
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
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 with oculorenal anomalies and joubert syndrome 9, 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

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.

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.

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.

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.

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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with oculorenal anomalies 35.2 CC2D2A CEP290 TMEM216 TMEM237
2 joubert syndrome 9 34.8 CC2D2A CEP41
3 coach syndrome 33.5 CC2D2A INPP5E RPGRIP1L TMEM67
4 polydactyly cleft lip palate psychomotor retardation 33.4 CPLANE1 KIAA0753 OFD1 TMEM216
5 cor triatriatum 12.5
6 cor triatriatum sinister 12.5
7 joubert syndrome 2 12.3
8 cor triatriatum dexter 12.3
9 joubert syndrome 6 12.2
10 joubert syndrome 10 12.2
11 joubert syndrome 5 12.2
12 joubert syndrome 23 12.2
13 joubert syndrome 21 12.2
14 joubert syndrome 4 12.2
15 joubert syndrome 14 12.2
16 joubert syndrome 15 12.2
17 joubert syndrome 16 12.2
18 joubert syndrome 18 12.2
19 joubert syndrome 3 12.2
20 joubert syndrome 24 12.2
21 joubert syndrome 25 12.2
22 joubert syndrome 26 12.2
23 joubert syndrome 7 12.2
24 joubert syndrome 8 12.2
25 joubert syndrome 13 12.2
26 joubert syndrome 17 12.2
27 joubert syndrome 20 12.2
28 joubert syndrome 22 12.2
29 isolated cerebellar vermis agenesis 12.2
30 isolated partial cerebellar vermis agenesis 12.2
31 isolated total cerebellar vermis agenesis 12.2
32 acute cor pulmonale 12.1
33 cor biloculare 12.1
34 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 11.3
35 pulmonary alveolar microlithiasis 11.2
36 joubert syndrome with ocular anomalies 11.2 AHI1 CEP41 INPP5E MKS1
37 spinocerebellar ataxia 29 11.2
38 encephalocele 11.2 CC2D2A CEP290 MKS1 TMEM67
39 bardet-biedl syndrome 13 11.2 AHI1 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
40 senior-loken syndrome 1 11.1 AHI1 CC2D2A CEP290 MKS1 TMEM216 TMEM67
41 congenital hepatic fibrosis 11.1 CC2D2A RPGRIP1L TMEM67
42 joubert syndrome with renal anomalies 11.1 RPGRIP1L TMEM237
43 bardet-biedl syndrome 15 11.1 CC2D2A RPGRIP1L TMEM67
44 nephronophthisis 11.1 AHI1 CC2D2A CEP290 INPP5E MKS1 RPGRIP1L
45 fundus dystrophy 11.1 AHI1 CC2D2A CEP290 INPP5E TMEM67
46 asphyxiating thoracic dystrophy 11.1 C2CD3 KIAA0586 KIAA0753 RPGRIP1L TCTN2
47 orofaciodigital syndrome 11.1 C2CD3 CPLANE1 KIAA0753 OFD1
48 acrocallosal syndrome 11.1
49 orofaciodigital syndrome vi 11.0 CEP290 CPLANE1 RPGRIP1L
50 bardet-biedl syndrome 11.0 CEP290 INPP5E MKS1 RPGRIP1L TMEM67

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 protruding tongue 32 HP:0010808
45 retinal dysplasia 32 occasional (7.5%) HP:0007973
46 occipital myelomeningocele 32 occasional (7.5%) HP:0007271
47 aggressive behavior 32 HP:0000718
48 optic nerve coloboma 32 HP:0000588
49 postaxial hand polydactyly 32 HP:0001162
50 hyperactivity 32 HP:0000752

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 cellular MP:0005384 10.32 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
2 growth/size/body region MP:0005378 10.31 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
3 cardiovascular system MP:0005385 10.3 B9D1 C2CD3 CC2D2A CEP290 CEP41 CPLANE1
4 embryo MP:0005380 10.27 CPLANE1 INPP5E KIAA0586 KIAA0753 MKS1 OFD1
5 craniofacial MP:0005382 10.24 B9D1 CC2D2A CEP290 CPLANE1 INPP5E KIAA0586
6 mortality/aging MP:0010768 10.24 B9D2 C2CD3 CC2D2A CEP290 CEP41 CPLANE1
7 digestive/alimentary MP:0005381 10.22 SLC30A7 TCTN2 TMEM67 B9D1 B9D2 CC2D2A
8 nervous system MP:0003631 10.17 AHI1 B9D1 C2CD3 CC2D2A CEP290 CEP41
9 limbs/digits/tail MP:0005371 10.14 B9D1 C2CD3 CC2D2A CPLANE1 INPP5E KIAA0586
10 renal/urinary system MP:0005367 9.96 AHI1 B9D1 CC2D2A CEP290 CPLANE1 INPP5E
11 respiratory system MP:0005388 9.7 B9D2 CC2D2A CEP290 CPLANE1 MKS1 OFD1
12 skeleton MP:0005390 9.56 CEP290 CPLANE1 INPP5E KIAA0586 MKS1 OFD1
13 vision/eye MP:0005391 9.23 CEP290 INPP5E MKS1 RPGRIP1L TCTN2 AHI1

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
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 INPP5E 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, Kidney, Liver, Spinal Cord, Cerebellum

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 303)
# 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
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. ( 28505061 )
2017
3
Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E. ( 27927754 )
2017
4
An elusive ciliopathy: Joubert syndrome. ( 28667057 )
2017
5
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. ( 28625504 )
2017
6
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. ( 28125082 )
2017
7
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
8
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. ( 28052552 )
2017
9
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. ( 28431631 )
2017
10
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. ( 28220259 )
2017
11
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. ( 28965847 )
2017
12
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. ( 28102635 )
2017
13
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
14
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. ( 28719906 )
2017
15
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. ( 29217415 )
2017
16
Neurocognitive Functions and Behavior in Joubert Syndrome. ( 27956815 )
2016
17
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. ( 27245168 )
2016
18
Prenylated retinal ciliopathy protein RPGR interacts with PDE6I' and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. ( 27554114 )
2016
19
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. ( 26830932 )
2016
20
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. ( 27377014 )
2016
21
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. ( 27208211 )
2016
22
Enlarged intracranial translucency and molar tooth sign in the first-trimester as part of Joubert syndrome and related disorders (JSRD). ( 26748614 )
2016
23
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. ( 26490104 )
2016
24
Joubert syndrome: genotyping a Northern European patient cohort. ( 25920555 )
2016
25
TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia. ( 28508964 )
2016
26
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly. ( 27081566 )
2016
27
Prenylated retinal ciliopathy protein RPGR interacts with PDE6I' and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. ( 28172980 )
2016
28
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. ( 27570071 )
2016
29
Molecular genetic analysis of 30 families with Joubert syndrome. ( 27434533 )
2016
30
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. ( 26500016 )
2015
31
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. ( 26477546 )
2015
32
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. ( 26541515 )
2015
33
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies. ( 27081551 )
2015
34
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). ( 26386247 )
2015
35
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. ( 26026149 )
2015
36
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. ( 26714646 )
2015
37
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs. ( 27082236 )
2015
38
A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation. ( 25448689 )
2015
39
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. ( 25877302 )
2015
40
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood. ( 26166658 )
2015
41
Association of joubert syndrome and hirschsprung disease. ( 25638189 )
2015
42
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome. ( 26043505 )
2015
43
KIAA0586 is Mutated in Joubert Syndrome. ( 26096313 )
2015
44
In response to the article "joubert syndrome imaging features and illustration of a case"; pol j radiol, 2015; 80: 381-83. ( 25908948 )
2015
45
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. ( 26301811 )
2015
46
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. ( 26386044 )
2015
47
Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome. ( 27747301 )
2015
48
High-Resolution Diffusion Tensor Imaging and Tractography in Joubert Syndrome: Beyond Molar Tooth Sign. ( 25890865 )
2015
49
Anesthetic management of patients with Joubert syndrome: a retrospective analysis of a single-institutional case series. ( 25040301 )
2014
50
The Shepherd's Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome. ( 25230909 )
2014

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 2256)
# 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.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
14 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh38 Chromosome 16, 53686524: 53686524
15 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
16 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
17 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
18 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
19 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
20 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
21 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
22 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
23 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
24 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh38 Chromosome 6, 135433125: 135433125
25 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh37 Chromosome 2, 202505638: 202505638
26 TMEM237 NM_001044385.2(TMEM237): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs199469707 GRCh38 Chromosome 2, 201640915: 201640915
27 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
28 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh38 Chromosome 17, 58206502: 58206505
29 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic rs386834149 GRCh37 Chromosome 12, 88513962: 88513962
30 CEP290 NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs) deletion Pathogenic rs386834149 GRCh38 Chromosome 12, 88120185: 88120185
31 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
32 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
33 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
34 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
35 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh37 Chromosome 8, 94777802: 94777803
36 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh38 Chromosome 8, 93765574: 93765575
37 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh37 Chromosome 2, 27670411: 27670411
38 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh38 Chromosome 2, 27447544: 27447544
39 CEP290 NM_025114.3(CEP290): c.4966G> T (p.Glu1656Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62638179 GRCh37 Chromosome 12, 88476854: 88476854
40 CEP290 NM_025114.3(CEP290): c.4966G> T (p.Glu1656Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62638179 GRCh38 Chromosome 12, 88083077: 88083077
41 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh38 Chromosome 11, 74168485: 74168485
42 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh37 Chromosome 11, 73879530: 73879530
43 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
44 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh38 Chromosome 12, 88055667: 88055667
45 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh37 Chromosome 5, 37227916: 37227916
46 CPLANE1 NM_023073.3(CPLANE1): c.1125A> G (p.Pro375=) single nucleotide variant Benign/Likely benign rs61745362 GRCh38 Chromosome 5, 37227814: 37227814
47 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh37 Chromosome 5, 37226960: 37226960
48 CPLANE1 NM_023073.3(CPLANE1): c.1737G> A (p.Ala579=) single nucleotide variant Benign/Likely benign rs13356183 GRCh38 Chromosome 5, 37226858: 37226858
49 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh37 Chromosome 5, 37226888: 37226888
50 CPLANE1 NM_023073.3(CPLANE1): c.1809T> C (p.Thr603=) single nucleotide variant Benign/Likely benign rs115435816 GRCh38 Chromosome 5, 37226786: 37226786

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 13)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.85 AHI1 B9D1 B9D2 C2CD3 CEP290 CEP41
2 centriolar satellite GO:0034451 9.78 C2CD3 CEP290 KIAA0753 OFD1
3 cell-cell junction GO:0005911 9.7 AHI1 MICALL2 RPGRIP1L
4 ciliary transition zone GO:0035869 9.65 B9D1 B9D2 CC2D2A CEP290 CPLANE1 MKS1
5 MKS complex GO:0036038 9.28 AHI1 B9D1 B9D2 CC2D2A CEP290 MKS1
6 cytoplasm GO:0005737 10.41 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
7 cytosol GO:0005829 10.36 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
8 cell projection GO:0042995 10.32 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
9 cytoskeleton GO:0005856 10.25 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
10 centrosome GO:0005813 10.18 AHI1 B9D1 B9D2 C2CD3 CEP290 CEP41
11 cilium GO:0005929 10.07 AHI1 B9D2 CC2D2A CEP290 CEP41 CPLANE1
12 microtubule organizing center GO:0005815 10.04 CEP290 CEP41 KIAA0586 KIAA0753 MKS1 OFD1
13 centriole GO:0005814 10.03 AHI1 C2CD3 CEP290 CEP41 KIAA0586 KIAA0753

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 9.83 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
2 G2/M transition of mitotic cell cycle GO:0000086 9.76 CEP290 CEP41 OFD1
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.7 CEP290 CEP41 OFD1
4 determination of left/right symmetry GO:0007368 9.67 CC2D2A MKS1 RPGRIP1L
5 smoothened signaling pathway GO:0007224 9.67 B9D1 CC2D2A KIAA0586 TCTN2
6 camera-type eye development GO:0043010 9.65 B9D1 CC2D2A RPGRIP1L
7 non-motile cilium assembly GO:1905515 9.65 C2CD3 CC2D2A MKS1 RPGRIP1L TMEM216
8 embryonic digit morphogenesis GO:0042733 9.62 B9D1 C2CD3 CPLANE1 MKS1
9 motile cilium assembly GO:0044458 9.59 CC2D2A MKS1
10 hindbrain development GO:0030902 9.58 AHI1 CEP290
11 regulation of smoothened signaling pathway GO:0008589 9.58 C2CD3 MKS1 RPGRIP1L
12 protein localization to centrosome GO:0071539 9.57 C2CD3 KIAA0753
13 head development GO:0060322 9.56 MKS1 RPGRIP1L
14 centriole replication GO:0007099 9.55 KIAA0753 OFD1
15 establishment of planar polarity GO:0001736 9.54 CPLANE1 RPGRIP1L
16 embryonic brain development GO:1990403 9.51 CC2D2A MKS1
17 regulation of establishment of protein localization GO:0070201 9.46 CEP290 KIAA0586
18 ciliary basal body-plasma membrane docking GO:0097711 9.44 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290
19 protein localization to ciliary transition zone GO:1904491 9.43 CC2D2A CPLANE1
20 cilium assembly GO:0060271 10.06 AHI1 B9D1 B9D2 C2CD3 CC2D2A CEP290

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 AHI1 B9D1 B9D2 C2CD3 CEP290 CEP41
2 gamma-tubulin binding GO:0043015 9.16 B9D2 OFD1
3 filamin binding GO:0031005 8.62 MICALL2 TMEM67

Sources for Joubert Syndrome 1

3 CDC
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11 DGIdb
17 ExPASy
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