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
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Aliases & Classifications for Joubert Syndrome 1

MalaCards integrated aliases for Joubert Syndrome 1:

Name: Joubert Syndrome 1 57 11 19 73 28 5 14
Joubert Syndrome 57 11 24 19 42 52 58 75 73 28 5 14 38 33
Cerebellooculorenal Syndrome 1 57 11 19 42 73
Jbts 57 11 24 42 73
Cerebelloparenchymal Disorder Iv 57 11 58 73
Joubert-Boltshauser Syndrome 57 19 58 73
Jbts1 57 11 19 73
Cors1 57 11 19 73
Cpd4 57 11 19 73
Joubert Syndrome and Related Disorders 58 28 5
Familial Aplasia of the Vermis 42 71
Jsrd 24 58
Joubert Syndrome Related Disorders 24
Cerebello-Oculo-Renal Syndrome 1 73
Cerebelloparenchymal Disorder 4 19
Cerebello-Oculo-Renal Syndrome 42
Agenesis of Cerebellar Vermis 42
Joubert-Bolthauser Syndrome 42
Cerebellar Vermis Agenesis 19
Classic Joubert Syndrome 58
Joubert Syndrome, Type 1 38
Joubert Syndrome Type a 58
Pure Joubert Syndrome 58
Joubert Syndrome-1 12
Joubert's Syndrome 33
Cpd Iv 58
Cors 42
Js 24

Characteristics:


Inheritance:

Joubert Syndrome 1: Autosomal recessive 57
Joubert Syndrome: Autosomal recessive 58
Joubert Syndrome and Related Disorders: Autosomal recessive,X-linked recessive 58

Prevelance:

Joubert Syndrome: 1-9/1000000 (Italy) 1-9/100000 (Worldwide) 58
Joubert Syndrome and Related Disorders: 1-9/100000 (Worldwide, United States, Netherlands) >1/1000 (North America) 58

Age Of Onset:

Joubert Syndrome: Antenatal 58
Joubert Syndrome and Related Disorders: Infancy,Neonatal 58

Age Of Death:

Joubert Syndrome: early childhood,infantile 58
Joubert Syndrome and Related Disorders: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable phenotype
genetic heterogeneity


Classifications:

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


Summaries for Joubert Syndrome 1

MedlinePlus Genetics: 42 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 coach syndrome 1, 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 Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drugs Metronidazole and Cola have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are intellectual disability and ataxia

NINDS: 52 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.

GARD: 19 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 genetic changes in any of many genes. Inheritance is usually autosomal recessive, but rarely it may be X-linked recessive.

Orphanet 58 Joubert syndrome and related disorders: Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

Joubert syndrome: A rare, autosomal recessive congenital cerebellar ataxia 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.

UniProtKB/Swiss-Prot: 73 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.

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) (Updated 24-Oct-2022)

Disease Ontology 11 Joubert syndrome 1: A Joubert syndrome that has material basis in homozygous mutation in the INPP5E gene on chromosome 9q34.

Joubert syndrome: 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: 75 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
Joubert Syndrome 37 Joubert Syndrome 38
Joubert Syndrome 39 Joubert Syndrome 40

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

(show top 50) (show all 387)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 3 34.5 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 coach syndrome 1 34.4 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
3 orofaciodigital syndrome vi 34.2 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
4 joubert syndrome 5 34.1 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
5 joubert syndrome 2 33.8 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
6 nephronophthisis 33.7 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
7 joubert syndrome 15 33.7 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L CEP41
8 arima syndrome 33.7 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
9 acrocallosal syndrome 33.7 TMEM67 TMEM216 RPGRIP1L OFD1 KIAA0586 CPLANE1
10 joubert syndrome 24 33.6 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1 AHI1
11 joubert syndrome 14 33.6 TMEM237 TMEM231 TMEM216 RPGRIP1L B9D2 B9D1
12 joubert syndrome 20 33.6 TMEM237 TMEM231 TMEM216 RPGRIP1L INPP5E CC2D2A
13 joubert syndrome 16 33.5 TMEM237 TMEM216 TMEM138 CEP41
14 joubert syndrome 4 33.5 TMEM237 RPGRIP1L
15 joubert syndrome 23 33.4 KIAA0586 CEP41 B9D2
16 joubert syndrome 13 33.4 TMEM67 TMEM216 TCTN2 TCTN1 CC2D2A
17 joubert syndrome 10 33.3 TMEM138 OFD1
18 joubert syndrome 26 33.3 TMEM67 CEP41
19 joubert syndrome 21 33.2 TMEM138 CEP41
20 joubert syndrome 7 33.1 RPGRIP1L INPP5E
21 meckel syndrome, type 1 32.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
22 fundus dystrophy 32.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
23 polydactyly 32.8 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
24 coloboma of macula 32.7 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
25 apraxia 32.5 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
26 leber plus disease 32.4 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
27 cystic kidney disease 32.3 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
28 retinitis pigmentosa 32.2 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
29 asphyxiating thoracic dystrophy 32.1 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
30 ciliopathy 32.0 TMEM231 RPGRIP1L
31 encephalocele 32.0 TMEM67 TMEM231 TCTN2 MKS1 CPLANE1 CEP290
32 short-rib thoracic dysplasia 1 with or without polydactyly 32.0 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
33 bardet-biedl syndrome 31.9 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
34 orofaciodigital syndrome 31.9 TMEM67 TMEM231 TMEM216 TCTN2 OFD1 MKS1
35 senior-loken syndrome 1 31.9 TMEM67 TMEM231 TMEM216 TMEM138 TCTN2 RPGRIP1L
36 polycystic kidney disease 31.7 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP290
37 juvenile nephronophthisis 31.6 CPLANE1 CEP290 AHI1
38 meckel syndrome, type 4 31.6 TMEM67 TMEM231 TMEM216 TMEM138 RPGRIP1L MKS1
39 meckel syndrome, type 3 31.5 TMEM67 RPGRIP1L MKS1 CC2D2A
40 polycystic kidney disease 4 with or without polycystic liver disease 31.4 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
41 orofaciodigital syndrome i 31.4 OFD1 CEP290
42 cone-rod dystrophy 2 31.3 TMEM67 TMEM231 TMEM216 TCTN1 RPGRIP1L OFD1
43 cranioectodermal dysplasia 31.2 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
44 meckel syndrome, type 5 31.2 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L MKS1
45 situs inversus 31.1 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
46 short-rib thoracic dysplasia 6 with or without polydactyly 30.9 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 KIAA0586
47 chromosome 2q35 duplication syndrome 30.9 TMEM67 TMEM216 OFD1 MKS1
48 nephronophthisis 2 30.9 RPGRIP1L MKS1 CEP290 CC2D2A B9D2 AHI1
49 meckel syndrome, type 2 30.8 TMEM231 TMEM216 MKS1 B9D2 B9D1
50 hydrolethalus syndrome 1 30.7 TMEM67 TCTN2 MKS1 B9D1

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 30 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001249
2 ataxia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001251
3 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
4 apnea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002104
5 cerebellar vermis hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001320
6 oculomotor apraxia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000657
7 episodic tachypnea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002876
8 hypotonia 30 Hallmark (90%) HP:0001252
9 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
10 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
11 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
12 biparietal narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004422
13 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
14 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
15 ptosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000508
16 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
17 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
18 anteverted nares 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000463
19 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
20 strabismus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000486
21 low-set ears 58 30 Very rare (1%) Occasional (29-5%)
HP:0000369
22 aganglionic megacolon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002251
23 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
24 highly arched eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002553
25 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
26 hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001161
27 foot polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001829
28 polymicrogyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002126
29 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
30 situs inversus totalis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001696
31 encephalocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002084
32 oral cleft 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000202
33 abnormality of the hypothalamus-pituitary axis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000864
34 occipital myelomeningocele 30 Occasional (7.5%) HP:0007271
35 postaxial foot polydactyly 30 Occasional (7.5%) HP:0001830
36 renal cyst 30 Occasional (7.5%) HP:0000107
37 retinal dysplasia 30 Occasional (7.5%) HP:0007973
38 seizure 30 Occasional (7.5%) HP:0001250
39 delayed speech and language development 30 Very rare (1%) HP:0000750
40 microcephaly 30 Very rare (1%) HP:0000252
41 nephropathy 30 Very rare (1%) HP:0000112
42 hepatic fibrosis 30 Very rare (1%) HP:0001395
43 plagiocephaly 30 Very rare (1%) HP:0001357
44 optic disc pallor 30 Very rare (1%) HP:0000543
45 poor head control 30 Very rare (1%) HP:0002421
46 molar tooth sign on mri 30 Very rare (1%) HP:0002419
47 generalized hypotonia 30 Very rare (1%) HP:0001290
48 clinodactyly 30 Very rare (1%) HP:0030084
49 delayed ability to sit 30 Very rare (1%) HP:0025336
50 delayed ability to walk 30 Very rare (1%) HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
macrocephaly

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

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 Eyes:
ptosis
chorioretinal coloboma
oculomotor apraxia
impaired smooth pursuit
epicanthal folds
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)

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 (Updated 24-Oct-2022)

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 nervous system MP:0003631 10.48 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
2 growth/size/body region MP:0005378 10.38 AHI1 B9D1 B9D2 CBY1 CC2D2A CEP290
3 limbs/digits/tail MP:0005371 10.34 B9D1 B9D2 CC2D2A CPLANE1 INPP5E KIAA0586
4 embryo MP:0005380 10.33 B9D1 B9D2 CBY1 CC2D2A CEP41 CPLANE1
5 renal/urinary system MP:0005367 10.25 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
6 cellular MP:0005384 10.24 AHI1 B9D1 B9D2 CBY1 CC2D2A CEP290
7 cardiovascular system MP:0005385 10.22 B9D1 B9D2 CC2D2A CEP290 CEP41 CPLANE1
8 craniofacial MP:0005382 10.18 B9D1 B9D2 CC2D2A CEP290 CPLANE1 INPP5E
9 digestive/alimentary MP:0005381 10.13 B9D1 B9D2 CC2D2A CPLANE1 INPP5E MKS1
10 skeleton MP:0005390 9.9 B9D2 CEP290 CPLANE1 INPP5E KIAA0586 MKS1
11 respiratory system MP:0005388 9.86 B9D2 CBY1 CC2D2A CEP290 CPLANE1 MKS1
12 vision/eye MP:0005391 9.73 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
13 mortality/aging MP:0010768 9.55 AHI1 B9D1 B9D2 CBY1 CC2D2A CEP290

Drugs & Therapeutics for Joubert Syndrome 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved 443-48-1, 69198-10-3 4173
2 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
2 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
3 Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis Recruiting NCT04874909
4 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998

Search NIH Clinical Center for Joubert Syndrome 1

Genetic Tests for Joubert Syndrome 1

Genetic tests related to Joubert Syndrome 1:

# Genetic test Affiliating Genes
1 Joubert Syndrome 28 CEP41 CPLANE1 RPGRIP1L TCTN2 TCTN3 TMEM138 TMEM231 TMEM237 TTC21B
2 Joubert Syndrome 1 28 INPP5E
3 Joubert Syndrome and Related Disorders 28

Anatomical Context for Joubert Syndrome 1

Organs/tissues related to Joubert Syndrome 1:

MalaCards : Brain, Eye, Spinal Cord, Kidney, Tongue, Cerebellum, Liver
ODiseA: Brain, Brain-Cerebellum, Kidney

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 1375)
# Title Authors PMID Year
1
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 62 24 57 5
19668216 2009
2
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 62 24 57 5
19430481 2009
3
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 62 24 57 5
15786477 2005
4
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 62 24 5
28125082 2017
5
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 62 24 5
28497568 2017
6
Molecular genetic analysis of 30 families with Joubert syndrome. 62 24 5
27434533 2016
7
Joubert syndrome: genotyping a Northern European patient cohort. 62 24 5
25920555 2016
8
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 62 24 5
26729329 2016
9
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 62 24 5
26490104 2016
10
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 62 24 5
26714646 2015
11
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 62 24 5
26477546 2015
12
KIAA0586 is Mutated in Joubert Syndrome. 62 24 5
26096313 2015
13
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 62 24 5
26092869 2015
14
[Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations]. 62 24 5
26310553 2015
15
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 62 24 5
26026149 2015
16
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 62 24 5
24886560 2014
17
Mutations in TMEM231 cause Joubert syndrome in French Canadians. 62 24 5
23012439 2012
18
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 62 24 5
22425360 2012
19
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 62 24 5
22282472 2012
20
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 62 24 5
22241855 2012
21
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 62 24 5
22152675 2011
22
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 62 24 5
21725307 2011
23
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 62 24 5
21565611 2011
24
CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 62 24 5
20690115 2010
25
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 62 24 5
20512146 2010
26
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 62 24 5
20232449 2010
27
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 62 24 5
19574260 2010
28
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 62 24 5
20036350 2010
29
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 62 24 5
19777577 2009
30
Expanding CEP290 mutational spectrum in ciliopathies. 62 24 5
19764032 2009
31
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 62 24 5
19508969 2009
32
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 62 24 5
19540516 2009
33
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 62 24 5
19058225 2009
34
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 62 24 5
18950740 2008
35
The face of Joubert syndrome: a study of dysmorphology and anthropometry. 62 24 57
18000967 2007
36
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. 62 24 5
17960139 2007
37
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 62 24 5
17558409 2007
38
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 62 24 5
17558407 2007
39
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. 62 24 5
17409309 2007
40
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 62 24 5
17160906 2007
41
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 62 24 5
16682973 2006
42
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 62 24 5
16682970 2006
43
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 62 24 5
16155189 2006
44
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 62 24 5
16453322 2006
45
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 62 24 5
15322546 2004
46
Clinical features and revised diagnostic criteria in Joubert syndrome. 62 24 57
10488903 1999
47
Joubert syndrome: a review. 62 24 57
1341417 1992
48
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 62 24 57
576733 1977
49
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 24 5
23351400 2012
50
In search of triallelism in Bardet-Biedl syndrome. 24 5
22353939 2012

Variations for Joubert Syndrome 1

ClinVar genetic disease variations for Joubert Syndrome 1:

5 (show top 50) (show all 6526)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INPP5E NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) SNV Pathogenic
398 rs121918128 GRCh37: 9:139324843-139324843
GRCh38: 9:136430391-136430391
2 CEP290 NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter) SNV Pathogenic
266097 rs886039808 GRCh37: 12:88477625-88477625
GRCh38: 12:88083848-88083848
3 TMEM231 NM_001077418.3(TMEM231):c.665-11T>C SNV Pathogenic
266095 rs886039807 GRCh37: 16:75575364-75575364
GRCh38: 16:75541466-75541466
4 KIAA0586 NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) DEL Pathogenic
266098 rs886039809 GRCh37: 14:58965542-58965542
GRCh38: 14:58498824-58498824
5 MICALL2 NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) SNV Pathogenic
375381 rs556808514 GRCh37: 7:1484855-1484855
GRCh38: 7:1445219-1445219
6 SLC30A7 NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) INDEL Pathogenic
375382 rs1057519442 GRCh37: 1:101377773-101377774
GRCh38: 1:100912217-100912218
7 CC2D2A NM_001378615.1(CC2D2A):c.4597_4598del (p.Leu1533fs) MICROSAT Pathogenic
242584 rs794729226 GRCh37: 4:15601250-15601251
GRCh38: 4:15599627-15599628
8 CEP290 NM_025114.4(CEP290):c.1522+1G>C SNV Pathogenic
802878 rs1592639588 GRCh37: 12:88513890-88513890
GRCh38: 12:88120113-88120113
9 CEP290 NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) SNV Pathogenic
802879 rs1592668925 GRCh37: 12:88522784-88522784
GRCh38: 12:88129007-88129007
10 AHI1 NM_001134831.2(AHI1):c.2742del (p.Leu915fs) DEL Pathogenic
802271 rs1583179845 GRCh37: 6:135748327-135748327
GRCh38: 6:135427189-135427189
11 TMEM67 NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs) DUP Pathogenic
802423 rs1586074742 GRCh37: 8:94811945-94811946
GRCh38: 8:93799717-93799718
12 CPLANE1 NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter) SNV Pathogenic
1077152 GRCh37: 5:37121841-37121841
GRCh38: 5:37121739-37121739
13 INPP5E NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) SNV Pathogenic
Likely Pathogenic
Likely Benign
397 rs13297509 GRCh37: 9:139326282-139326282
GRCh38: 9:136431830-136431830
14 CC2D2A NM_001378615.1(CC2D2A):c.1017+1G>A SNV Pathogenic
166801 rs200407856 GRCh37: 4:15517628-15517628
GRCh38: 4:15516005-15516005
15 CEP290 NM_025114.4(CEP290):c.1451del (p.Lys484fs) DEL Pathogenic
Pathogenic
56730 rs386834149 GRCh37: 12:88513962-88513962
GRCh38: 12:88120185-88120185
16 INPP5E NM_019892.6(INPP5E):c.1760del (p.Val587fs) DEL Pathogenic
217656 rs775518991 GRCh37: 9:139324771-139324771
GRCh38: 9:136430319-136430319
17 TCTN2 NM_024809.5(TCTN2):c.76dup (p.Asp26fs) DUP Pathogenic
Pathogenic
217700 rs863225222 GRCh37: 12:124155857-124155858
GRCh38: 12:123671310-123671311
18 INPP5E NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) SNV Pathogenic
217659 rs863225200 GRCh37: 9:139327612-139327612
GRCh38: 9:136433160-136433160
19 B9D1 NM_015681.6(B9D1):c.466C>T (p.Arg156Trp) SNV Pathogenic
217554 rs369488112 GRCh37: 17:19247109-19247109
GRCh38: 17:19343796-19343796
20 MKS1 NM_017777.4(MKS1):c.381del (p.Tyr128fs) DEL Pathogenic
217676 rs863225206 GRCh37: 17:56293485-56293485
GRCh38: 17:58216124-58216124
21 MKS1 NM_017777.4(MKS1):c.1528dup (p.Arg510fs) DUP Pathogenic
217673 rs863225204 GRCh37: 17:56283703-56283704
GRCh38: 17:58206342-58206343
22 MKS1 NM_017777.4(MKS1):c.950G>A (p.Gly317Glu) SNV Pathogenic
217679 rs863225208 GRCh37: 17:56288349-56288349
GRCh38: 17:58210988-58210988
23 TCTN2 NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) SNV Pathogenic
217699 rs863225221 GRCh37: 12:124179823-124179823
GRCh38: 12:123695276-123695276
24 IFT172 NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) SNV Pathogenic
97024 rs587777079 GRCh37: 2:27670411-27670411
GRCh38: 2:27447544-27447544
25 INPP5E NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) DEL Pathogenic
217658 rs863225199 GRCh37: 9:139324164-139324165
GRCh38: 9:136429712-136429713
26 MKS1 NM_017777.4(MKS1):c.1589-2A>T SNV Pathogenic
217678 rs863225207 GRCh37: 17:56283533-56283533
GRCh38: 17:58206172-58206172
27 INPP5E NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) SNV Pathogenic
217664 rs863225202 GRCh37: 9:139327438-139327438
GRCh38: 9:136432986-136432986
28 MKS1 NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr) SNV Pathogenic
Pathogenic
217675 rs863225205 GRCh37: 17:56296537-56296537
GRCh38: 17:58219176-58219176
29 MKS1 NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser) SNV Pathogenic
217681 rs863225210 GRCh37: 17:56285267-56285267
GRCh38: 17:58207906-58207906
30 B9D1 NM_015681.6(B9D1):c.285C>A (p.Phe95Leu) SNV Pathogenic
Uncertain Significance
217553 rs373478202 GRCh37: 17:19251153-19251153
GRCh38: 17:19347840-19347840
31 TCTN2 NM_024809.5(TCTN2):c.1626del (p.Asp543fs) DEL Pathogenic
217697 rs863225220 GRCh37: 12:124189092-124189092
GRCh38: 12:123704545-123704545
32 C2CD3 NM_001286577.2(C2CD3):c.4951+1G>T SNV Pathogenic
217559 rs863225151 GRCh37: 11:73785297-73785297
GRCh38: 11:74074252-74074252
33 C2CD3 NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) SNV Pathogenic
144038 rs587777653 GRCh37: 11:73879530-73879530
GRCh38: 11:74168485-74168485
34 INPP5E NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) SNV Pathogenic
217654 rs863225197 GRCh37: 9:139324847-139324847
GRCh38: 9:136430395-136430395
35 INPP5E NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) SNV Pathogenic
217657 rs752300607 GRCh37: 9:139324777-139324777
GRCh38: 9:136430325-136430325
36 MKS1 NM_017777.4(MKS1):c.417G>A (p.Glu139=) SNV Pathogenic
Pathogenic
1392 rs386834048 GRCh37: 17:56293449-56293449
GRCh38: 17:58216088-58216088
37 MKS1 NM_017777.4(MKS1):c.262-179_262-37del DEL Pathogenic
217674 rs1555600644 GRCh37: 17:56293641-56293783
GRCh38: 17:58216280-58216422
38 INPP5E NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) SNV Pathogenic
217663 rs863225201 GRCh37: 9:139327525-139327525
GRCh38: 9:136433073-136433073
39 MKS1 NM_017777.4(MKS1):c.767_768insC (p.Glu256fs) INSERT Pathogenic
217680 rs863225209 GRCh37: 17:56290433-56290434
GRCh38: 17:58213072-58213073
40 TCTN2 NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) SNV Pathogenic
217696 rs187433682 GRCh37: 12:124179406-124179406
GRCh38: 12:123694859-123694859
41 B9D1 NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) SNV Pathogenic
217555 rs771170000 GRCh37: 17:19263670-19263670
GRCh38: 17:19360357-19360357
42 INPP5E NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) SNV Pathogenic
217665 rs757222534 GRCh37: 9:139326357-139326357
GRCh38: 9:136431905-136431905
43 C2CD3 NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu) SNV Pathogenic
217560 rs150291837 GRCh37: 11:73760476-73760476
GRCh38: 11:74049431-74049431
44 CPLANE1 NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) SNV Pathogenic
392297 rs755097302 GRCh37: 5:37227771-37227771
GRCh38: 5:37227669-37227669
45 TCTN2 NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) SNV Pathogenic
189247 rs786204788 GRCh37: 12:124191380-124191380
GRCh38: 12:123706833-123706833
46 RPGRIP1L NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) DEL Pathogenic
Pathogenic
241025 rs878855006 GRCh37: 16:53698905-53698905
GRCh38: 16:53664993-53664993
47 MKS1 NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) DUP Pathogenic
Pathogenic
56617 rs386834044 GRCh37: 17:56283862-56283863
GRCh38: 17:58206501-58206502
48 CC2D2A NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) SNV Pathogenic
Pathogenic
Likely Benign
238273 rs375278294 GRCh37: 4:15575830-15575830
GRCh38: 4:15574207-15574207
49 CEP290 NM_025114.4(CEP290):c.3104-2A>G SNV Pathogenic
374210 rs773386777 GRCh37: 12:88487754-88487754
GRCh38: 12:88093977-88093977
50 CEP290 NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs) MICROSAT Pathogenic
217632 rs756302731 GRCh37: 12:88476853-88476854
GRCh38: 12:88083076-88083077

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 rs1588830568
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

GO Terms for Joubert Syndrome 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.4 AHI1 B9D1 B9D2 CEP290 CEP41 KIAA0586
2 ciliary basal body GO:0036064 10.37 RPGRIP1L OFD1 MKS1 KIAA0586 CEP41 CEP290
3 cytoskeleton GO:0005856 10.32 AHI1 B9D1 B9D2 CBY1 CC2D2A CEP290
4 cilium GO:0005929 10.32 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 RPGRIP1L
5 centriole GO:0005814 10.28 AHI1 CBY1 CEP290 CEP41 KIAA0586 MKS1
6 cell projection GO:0042995 10.16 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2
7 MKS complex GO:0036038 10 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 MKS1
8 ciliary membrane GO:0060170 9.97 TMEM67 TMEM231 TCTN2
9 photoreceptor connecting cilium GO:0032391 9.95 TMEM237 RPGRIP1L CEP290
10 microtubule organizing center GO:0005815 9.93 RPGRIP1L OFD1 MKS1 KIAA0586 CEP41 CEP290
11 ciliary transition zone GO:0035869 9.66 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.22 TCTN2 TCTN1 RPGRIP1L OFD1 MKS1 KIAA0586
2 in utero embryonic development GO:0001701 10.14 TMEM231 TCTN1 RPGRIP1L B9D1
3 smoothened signaling pathway GO:0007224 10.07 TMEM231 TCTN2 KIAA0586 CC2D2A B9D1
4 kidney development GO:0001822 10.02 CC2D2A CEP290 CPLANE1 RPGRIP1L
5 non-motile cilium assembly GO:1905515 10.02 CC2D2A CEP290 MKS1 RPGRIP1L TMEM216
6 determination of left/right symmetry GO:0007368 10 RPGRIP1L MKS1 CC2D2A
7 embryonic digit morphogenesis GO:0042733 9.95 TMEM231 MKS1 CPLANE1 B9D1
8 motile cilium assembly GO:0044458 9.93 MKS1 CC2D2A AHI1
9 camera-type eye development GO:0043010 9.91 TMEM231 RPGRIP1L CEP290 CC2D2A B9D1
10 embryonic brain development GO:1990403 9.87 MKS1 CC2D2A
11 regulation of smoothened signaling pathway GO:0008589 9.83 TCTN1 RPGRIP1L MKS1
12 neuroepithelial cell differentiation GO:0060563 9.81 TMEM231 B9D1
13 regulation of establishment of protein localization GO:0070201 9.8 KIAA0586 CEP290
14 head development GO:0060322 9.73 RPGRIP1L MKS1
15 establishment of planar polarity GO:0001736 9.72 RPGRIP1L CPLANE1
16 protein localization to ciliary transition zone GO:1904491 9.7 TCTN2 TCTN1 CPLANE1 CC2D2A
17 cell projection organization GO:0030030 9.58 AHI1 B9D1 B9D2 CBY1 CC2D2A CEP290

Sources for Joubert Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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