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, eye and liver, and related phenotypes are intellectual disability and global developmental delay

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 713)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 3 36.4 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 joubert syndrome 4 36.3 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
3 joubert syndrome 5 36.1 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
4 joubert syndrome 2 36.0 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
5 joubert syndrome 9 35.9 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP41
6 joubert syndrome 7 35.9 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP290
7 joubert syndrome 13 35.9 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
8 joubert syndrome 6 35.9 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
9 joubert syndrome 8 35.9 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 CEP290
10 joubert syndrome 10 35.8 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 CC2D2A
11 joubert syndrome 14 35.6 TMEM237 TMEM231 TMEM216 NPHP4 B9D2 B9D1
12 joubert syndrome 24 35.6 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1 AHI1
13 orofaciodigital syndrome vi 35.6 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
14 joubert syndrome 15 35.4 TMEM237 RPGRIP1L NPHP4 CEP41
15 joubert syndrome 20 35.3 TMEM237 TMEM231 NPHP4
16 nephronophthisis 14 35.2 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 MKS1
17 arima syndrome 35.0 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
18 nephronophthisis 34.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
19 coach syndrome 34.8 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
20 acrocallosal syndrome 34.6 TMEM216 RPGRIP1L OFD1 AHI1
21 nephronophthisis 12 34.4 NPHP4 CEP41 CEP290
22 fundus dystrophy 33.6 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
23 nephronophthisis 1 33.4 NPHP4 B9D2 B9D1 AHI1
24 coloboma of macula 33.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
25 meckel syndrome, type 1 33.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
26 bardet-biedl syndrome 32.9 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
27 meckel syndrome, type 3 32.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
28 apraxia 32.8 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L CPLANE1
29 ciliopathy 32.8 TMEM67 TMEM231 RPGRIP1L NPHP4 KIAA0586
30 leber plus disease 32.8 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
31 polydactyly 32.7 MKS1 KIAA0586 INPP5E CEP290 CC2D2A ARMC9
32 cystic kidney disease 32.7 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
33 senior-loken syndrome 1 32.6 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
34 short-rib thoracic dysplasia 1 with or without polydactyly 32.5 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
35 retinitis pigmentosa 32.5 TMEM67 TMEM231 TMEM216 RPGRIP1L OFD1 NPHP4
36 encephalocele 32.4 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
37 orofaciodigital syndrome 32.3 TMEM67 TMEM231 TMEM216 TCTN1 OFD1 MKS1
38 meckel syndrome, type 5 32.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
39 pathologic nystagmus 32.3 TMEM67 MKS1 CEP290 AHI1
40 polycystic kidney disease 4 with or without polycystic liver disease 32.1 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
41 meckel syndrome, type 4 32.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
42 congenital hepatic fibrosis 31.9 TMEM67 RPGRIP1L CC2D2A AHI1
43 nephronophthisis 2 31.8 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 MKS1
44 orofaciodigital syndrome i 31.8 OFD1 CEP290
45 visceral heterotaxy 31.8 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
46 asphyxiating thoracic dystrophy 31.6 RPGRIP1L NPHP4 KIAA0586 CEP290
47 cerebellar hypoplasia 31.6 TMEM67 RPGRIP1L CC2D2A
48 short-rib thoracic dysplasia 6 with or without polydactyly 31.5 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 KIAA0586
49 bardet-biedl syndrome 6 31.2 RPGRIP1L MKS1 CEP290
50 ellis-van creveld syndrome 31.1 TMEM216 RPGRIP1L OFD1 KIAA0586 CEP290

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 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
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 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
8 episodic tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002876
9 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
16 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
17 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
18 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
21 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
22 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
23 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
24 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
25 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
26 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
27 foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001829
28 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
29 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
30 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
31 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
32 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
33 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
34 occipital myelomeningocele 31 occasional (7.5%) HP:0007271
35 renal cyst 31 occasional (7.5%) HP:0000107
36 retinal dysplasia 31 occasional (7.5%) HP:0007973
37 seizure 31 occasional (7.5%) HP:0001250
38 macroglossia 31 HP:0000158
39 macrocephaly 31 HP:0000256
40 seizures 58 Occasional (29-5%)
41 prominent forehead 31 HP:0011220
42 malformation of the heart and great vessels 58 Occasional (29-5%)
43 abnormal pattern of respiration 58 Very frequent (99-80%)
44 epicanthus 31 HP:0000286
45 hepatic fibrosis 31 HP:0001395
46 protruding tongue 31 HP:0010808
47 chorioretinal coloboma 31 HP:0000567
48 abnormality of the foot 31 HP:0001760
49 abnormality of neuronal migration 58 Occasional (29-5%)
50 optic nerve coloboma 31 HP:0000588

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypoplasia of the brainstem
hypotonia
mental retardation
more
Head And Neck Eyes:
ptosis
chorioretinal coloboma
oculomotor apraxia
impaired smooth pursuit
epicanthal folds
more
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 Face:
prominent forehead
high rounded eyebrows
hemifacial spasms

Head And Neck Ears:
low-set ears
tilted ears

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

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 10.4 B9D1 B9D2 CC2D2A CEP290 CEP41 CPLANE1
2 cellular MP:0005384 10.39 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
3 embryo MP:0005380 10.3 B9D1 B9D2 CC2D2A CEP41 CPLANE1 INPP5E
4 nervous system MP:0003631 10.28 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
5 craniofacial MP:0005382 10.27 B9D1 B9D2 CC2D2A CEP290 CPLANE1 INPP5E
6 mortality/aging MP:0010768 10.27 AHI1 B9D1 B9D2 CC2D2A CEP290 CEP41
7 growth/size/body region MP:0005378 10.25 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
8 limbs/digits/tail MP:0005371 10.22 B9D1 B9D2 CC2D2A CPLANE1 INPP5E KIAA0586
9 digestive/alimentary MP:0005381 10.18 B9D1 B9D2 CC2D2A CPLANE1 INPP5E MKS1
10 renal/urinary system MP:0005367 10.03 AHI1 B9D1 B9D2 CC2D2A CEP290 CPLANE1
11 respiratory system MP:0005388 9.7 B9D2 CC2D2A CEP290 CPLANE1 MKS1 OFD1
12 skeleton MP:0005390 9.61 B9D2 CEP290 CPLANE1 INPP5E KIAA0586 MKS1
13 vision/eye MP:0005391 9.4 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 22)
# 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 Neurotransmitter Agents Phase 4
4 Vasoconstrictor Agents Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Serotonin Receptor Agonists Phase 4
7 Serotonin 5-HT1 Receptor Agonists Phase 4
8 Analgesics Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Antirheumatic Agents Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
14
Fluorouracil Approved Phase 1 51-21-8 3385
15
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
16 Protein Kinase Inhibitors Phase 1
17 Immunologic Factors Phase 1
18 Immunosuppressive Agents Phase 1
19 Antimetabolites Phase 1
20
Metronidazole Approved 443-48-1 4173
21 Liver Extracts
22 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, Eye, Liver, Kidney, Tongue, Cerebellum, Spinal Cord

Publications for Joubert Syndrome 1

Articles related to Joubert Syndrome 1:

(show top 50) (show all 789)
# Title Authors PMID Year
1
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 61 56 6 24
19668216 2009
2
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. 24 6 61
27245168 2016
3
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 24 61 6
26714646 2015
4
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 6 24 61
26477546 2015
5
KIAA0586 is Mutated in Joubert Syndrome. 61 6 24
26096313 2015
6
Mutations in TMEM231 cause Joubert syndrome in French Canadians. 24 61 6
23012439 2012
7
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 24 6 61
22425360 2012
8
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 6 24 61
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. 6 24 61
21725307 2011
11
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 24 6 61
19574260 2010
12
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 61 6 24
19508969 2009
13
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 6 61 24
19058225 2009
14
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 61 6 24
18674751 2008
15
The face of Joubert syndrome: a study of dysmorphology and anthropometry. 24 56 61
18000967 2007
16
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 24 6 61
17160906 2007
17
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. 24 6 61
16541367 2006
18
Clinical features and revised diagnostic criteria in Joubert syndrome. 61 24 56
10488903 1999
19
Joubert syndrome: a review. 24 56 61
1341417 1992
20
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 56 61 24
576733 1977
21
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 6 24
21565611 2011
22
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 56 24
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
Tectonic gene mutations in patients with Joubert syndrome. 6 61
25118024 2015
28
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. 6 61
25138100 2015
29
Exome sequencing can improve diagnosis and alter patient management. 61 6
22700954 2012
30
Clinical utility gene card for: Joubert syndrome. 6 61
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. 56 61
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. 56 61
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. 56 61
11146468 2000
38
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. 56 61
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. 56 61
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. 56 61
7439204 1980
49
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. 56 61
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 1455) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.4(CEP290):c.3104-2A>GSNV Pathogenic 374210 rs773386777 12:88487754-88487754 12:88093977-88093977
2 SLC30A7 NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)indel Pathogenic 375382 rs1057519442 1:101377773-101377774 1:100912217-100912218
3 MICALL2 NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)SNV Pathogenic 375381 rs556808514 7:1484855-1484855 7:1445219-1445219
4 CC2D2A NC_000004.12:g.(?_15478723)_(15480827_?)deldeletion Pathogenic 417568 4:15480347-15482451 4:15478723-15480827
5 CC2D2A NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter)SNV Pathogenic 411851 rs757208121 4:15529187-15529187 4:15527564-15527564
6 AHI1 NC_000006.12:g.(?_135429882)_(135433256_?)deldeletion Pathogenic 417415 6:135751020-135754394 6:135429882-135433256
7 TMEM67 NM_001142301.1(TMEM67):c.2071_2079+4delinsGGindel Pathogenic 411583 rs1064792983 8:94815904-94815916 8:93803676-93803688
8 RPGRIP1L NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs)deletion Pathogenic 406251 rs778824093 16:53675276-53675277 16:53641364-53641365
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs)duplication Pathogenic 406250 rs1060501006 16:53705451-53705452 16:53671539-53671540
10 OFD1 NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter)SNV Pathogenic 404165 rs1060500123 X:13785371-13785371 X:13767252-13767252
11 ARMC9 NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)SNV Pathogenic 427932 rs759799287 2:232127019-232127019 2:231262306-231262306
12 KIAA0753 NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)SNV Pathogenic 428613 rs746068882 17:6526336-6526336 17:6623016-6623016
13 KIAA0753 NM_014804.3(KIAA0753):c.1271del (p.Pro424fs)deletion Pathogenic 428614 rs1555531363 17:6524152-6524152 17:6620832-6620832
14 KIAA0753 NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)SNV Pathogenic 428615 rs762771340 17:6526363-6526363 17:6623043-6623043
15 MKS1 NM_017777.4(MKS1):c.1408-1dupduplication Pathogenic 435876 rs762668200 17:56283904-56283905 17:58206543-58206544
16 CEP290 NM_025114.4(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
17 AHI1 NC_000006.12:g.(?_135457583)_(135465286_?)deldeletion Pathogenic 461739 6:135457583-135465286
18 AHI1 NM_001134831.2(AHI1):c.1677dup (p.Pro560fs)duplication Pathogenic 461742 rs1554350503 6:135768247-135768248 6:135447109-135447110
19 AHI1 NM_001134831.2(AHI1):c.1355del (p.Phe452fs)deletion Pathogenic 461740 rs1554208431 6:135774564-135774564 6:135453426-135453426
20 CC2D2A NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter)SNV Pathogenic 461750 rs758036385 4:15587792-15587792 4:15586169-15586169
21 TCTN2 NM_024809.5(TCTN2):c.524dup (p.Leu175fs)duplication Pathogenic 461766 rs760034947 12:124163793-124163794 12:123679246-123679247
22 TCTN2 NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs)duplication Pathogenic 461767 rs915737037 12:124171469-124171470 12:123686922-123686923
23 CEP290 NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs)deletion Pathogenic 461786 rs1555201796 12:88465147-88465151 12:88071370-88071374
24 CEP290 NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter)SNV Pathogenic 461785 rs1555205328 12:88473973-88473973 12:88080196-88080196
25 CEP290 NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter)SNV Pathogenic 461774 rs1278679056 12:88513939-88513939 12:88120162-88120162
26 CEP290 NM_025114.4(CEP290):c.180+1G>ASNV Pathogenic 461777 rs758593134 12:88534732-88534732 12:88140955-88140955
27 OFD1 NC_000023.11:g.(?_13735052)_(13744539_?)deldeletion Pathogenic 463446 X:13753171-13762658 X:13735052-13744539
28 OFD1 NC_000023.11:g.(?_13735052)_(13769128_?)deldeletion Pathogenic 463447 X:13735052-13769128
29 OFD1 NM_003611.3(OFD1):c.560dup (p.Tyr187Ter)duplication Pathogenic 463457 rs1555902640 X:13764479-13764480 X:13746360-13746361
30 CEP290 NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)SNV Pathogenic 497937 rs760540562 12:88452645-88452645 12:88058868-88058868
31 CEP290 NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)deletion Pathogenic 522742 rs771266705 12:88513990-88513994 12:88120213-88120217
32 CEP290 NM_025114.4(CEP290):c.828del (p.Glu277fs)deletion Pathogenic 523947 rs1555225566 12:88523495-88523495 12:88129718-88129718
33 AHI1 NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer)deletion Pathogenic 530887 rs905262279 6:135769556-135769557 6:135448418-135448419
34 AHI1 NM_001134831.2(AHI1):c.836del (p.Asp279fs)deletion Pathogenic 530888 rs1554214237 6:135784358-135784358 6:135463220-135463220
35 CEP290 NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter)indel Pathogenic 530917 rs1555212150 12:88487650-88487651 12:88093873-88093874
36 CEP290 NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
37 CEP290 NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs)short repeat Pathogenic 530918 rs757609119 12:88471625-88471626 12:88077848-88077849
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs)deletion Pathogenic 530899 rs1182447072 16:53674964-53674964 16:53641052-53641052
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)deletion Pathogenic 530905 rs757594906 16:53706839-53706839 16:53672927-53672927
40 OFD1 NM_003611.3(OFD1):c.748G>T (p.Glu250Ter)SNV Pathogenic 532264 rs1555902866 X:13764992-13764992 X:13746873-13746873
41 OFD1 NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs)deletion Pathogenic 532265 rs312262890 X:13778702-13778705 X:13760583-13760586
42 INPP5E NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter)SNV Pathogenic 568818 rs1564430716 9:139324218-139324218 9:136429766-136429766
43 TCTN2 NM_024809.5(TCTN2):c.367dup (p.Leu123fs)duplication Pathogenic 571826 rs748951253 12:124158258-124158259 12:123673711-123673712
44 CEP290 NM_025114.4(CEP290):c.5512dup (p.Arg1838fs)duplication Pathogenic 581329 rs1565822519 12:88471547-88471548 12:88077770-88077771
45 CEP290 NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)deletion Pathogenic 572652 rs764309755 12:88476857-88476858 12:88083080-88083081
46 CEP290 NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)SNV Pathogenic 578618 rs772170760 12:88524330-88524330 12:88130553-88130553
47 RPGRIP1L NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)duplication Pathogenic 569914 rs749987648 16:53692704-53692705 16:53658792-53658793
48 MKS1 NM_001165927.1(MKS1):c.615-2A>TSNV Pathogenic 571828 rs773036963 17:56291232-56291232 17:58213871-58213871
49 OFD1 NM_003611.3(OFD1):c.915_916del (p.Arg306fs)deletion Pathogenic 575365 rs1569128307 X:13767631-13767632 X:13749512-13749513
50 OFD1 NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter)SNV Pathogenic 582225 rs1569141500 X:13774788-13774788 X:13756669-13756669

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 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 cytosol GO:0005829 10.32 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4 MKS1
3 centrosome GO:0005813 10.14 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586
4 ciliary basal body GO:0036064 10.11 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586 CEP41
5 ciliary transition zone GO:0035869 10.07 TMEM67 TMEM237 TMEM231 TMEM216 TCTN1 RPGRIP1L
6 MKS complex GO:0036038 10.06 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 MKS1
7 cilium GO:0005929 10.06 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L OFD1
8 microtubule organizing center GO:0005815 10 RPGRIP1L OFD1 NPHP4 MKS1 KIAA0586 CEP41
9 centriole GO:0005814 9.98 OFD1 MKS1 KIAA0586 CEP41 CEP290 ARMC9
10 cytoskeleton GO:0005856 9.89 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
11 photoreceptor connecting cilium GO:0032391 9.78 TMEM237 RPGRIP1L NPHP4 CEP290
12 ciliary membrane GO:0060170 9.7 TMEM67 TMEM231 TCTN2
13 cell projection GO:0042995 9.62 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 10 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 cell projection organization GO:0030030 9.89 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
3 in utero embryonic development GO:0001701 9.81 TMEM231 TCTN1 RPGRIP1L B9D1
4 G2/M transition of mitotic cell cycle GO:0000086 9.78 OFD1 CEP41 CEP290
5 camera-type eye development GO:0043010 9.73 TMEM231 RPGRIP1L CC2D2A B9D1
6 smoothened signaling pathway GO:0007224 9.72 TMEM231 TCTN2 KIAA0586 CC2D2A B9D1
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.71 OFD1 CEP41 CEP290
8 embryonic digit morphogenesis GO:0042733 9.71 TMEM231 MKS1 CPLANE1 B9D1
9 determination of left/right symmetry GO:0007368 9.7 RPGRIP1L MKS1 CC2D2A
10 non-motile cilium assembly GO:1905515 9.67 TMEM216 RPGRIP1L MKS1 CC2D2A
11 protein localization to ciliary transition zone GO:1904491 9.65 TCTN2 TCTN1 NPHP4 CPLANE1 CC2D2A
12 regulation of smoothened signaling pathway GO:0008589 9.63 TCTN1 RPGRIP1L MKS1
13 vasculature development GO:0001944 9.62 TMEM231 B9D1
14 telencephalon development GO:0021537 9.61 TCTN1 RPGRIP1L
15 motile cilium assembly GO:0044458 9.6 MKS1 CC2D2A
16 axoneme assembly GO:0035082 9.59 OFD1 CC2D2A
17 hindbrain development GO:0030902 9.58 CEP290 AHI1
18 head development GO:0060322 9.58 RPGRIP1L MKS1
19 cilium assembly GO:0060271 9.58 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
20 establishment of planar polarity GO:0001736 9.57 RPGRIP1L CPLANE1
21 embryonic brain development GO:1990403 9.56 MKS1 CC2D2A
22 photoreceptor cell outer segment organization GO:0035845 9.55 NPHP4 AHI1
23 regulation of establishment of protein localization GO:0070201 9.49 KIAA0586 CEP290
24 neuroepithelial cell differentiation GO:0060563 9.48 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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