JBTS4
MCID: JBR018
MIFTS: 49

Joubert Syndrome 4 (JBTS4)

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

Aliases & Classifications for Joubert Syndrome 4

MalaCards integrated aliases for Joubert Syndrome 4:

Name: Joubert Syndrome 4 56 12 52 73 29 13 6 43 15 71
Jbts4 56 12 52 73
Joubert Syndrome with Renal Anomalies 52
Joubert Syndrome with Renal Defect 58
Joubert Syndrome, Type 4 39
Js-R 58

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome with renal defect
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
phenotypically mild form of joubert syndrome
genetic heterogeneity (see jbts1 )
allelic disorder to juvenile nephronophthisis-1


HPO:

31
joubert syndrome 4:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

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


Summaries for Joubert Syndrome 4

UniProtKB/Swiss-Prot : 73 Joubert syndrome 4: 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. Joubert syndrome type 4 is a phenotypically mild form.

MalaCards based summary : Joubert Syndrome 4, also known as jbts4, is related to joubert syndrome 26 and orofaciodigital syndrome i, and has symptoms including ataxia An important gene associated with Joubert Syndrome 4 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, eye and brain, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A Joubert syndrome that has material basis in deletions of the NPHP1 gene on chromosome 2q13.

More information from OMIM: 609583 PS213300

Related Diseases for Joubert Syndrome 4

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35

Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 26 10.4 TMEM67 KIF7
2 orofaciodigital syndrome i 10.3 OFD1 CEP290
3 orofaciodigital syndrome iv 10.3 TMEM216 OFD1
4 simpson-golabi-behmel syndrome, type 2 10.3 OFD1 CEP290
5 coach syndrome 10.3 TMEM67 RPGRIP1L CC2D2A
6 cone-rod dystrophy 13 10.3 RPGRIP1L NPHP4
7 endocrine-cerebroosteodysplasia 10.3 KIF7 ARL13B
8 nephronophthisis 15 10.3 NPHP4 NPHP1
9 retinal aplasia 10.2 NPHP4 NPHP1 CEP290
10 leber congenital amaurosis 6 10.2 MKS1 CEP290
11 joubert syndrome 21 10.2 NPHP4 NPHP1 ARL13B
12 joubert syndrome 20 10.2 TMEM67 TMEM237 NPHP4
13 congenital hepatic fibrosis 10.2 TMEM67 RPGRIP1L CC2D2A AHI1
14 arima syndrome 10.1 TMEM237 TMEM216 CEP290 CC2D2A
15 bardet-biedl syndrome 13 10.1 MKS1 CEP290
16 bardet-biedl syndrome 10 10.1 TMEM216 NPHP1 BBS2
17 oligohydramnios 10.1 TMEM67 MKS1 CC2D2A
18 nephronophthisis 4 10.1 NPHP4 NPHP1
19 joubert syndrome 14 10.0 TMEM237 TMEM216 RPGRIP1L NPHP4
20 bardet-biedl syndrome 4 10.0 OFD1 CEP290
21 encephalocele 10.0 TMEM67 MKS1 CEP290 CC2D2A
22 joubert syndrome 15 10.0 TMEM237 TCTN2 TCTN1 KIF7
23 bardet-biedl syndrome 18 10.0 MKS1 BBS2
24 bardet-biedl syndrome 1 10.0 TMEM216 NPHP1 KIF7 BBS2
25 chromosome 2q35 duplication syndrome 9.9 TMEM216 OFD1 BBS2
26 bardet-biedl syndrome 8 9.9 MKS1 CEP290 BBS2
27 bardet-biedl syndrome 6 9.9 MKS1 CEP290 BBS2
28 bardet-biedl syndrome 3 9.9 MKS1 CEP290 BBS2
29 bardet-biedl syndrome 11 9.9 MKS1 BBS2
30 polycystic kidney disease 2 with or without polycystic liver disease 9.8 TMEM67 NPHP4 MKS1 ARL13B
31 hyperuricemic nephropathy, familial juvenile, 1 9.8 NPHP4 NPHP1
32 caroli disease 9.8 NPHP3 NPHP1
33 joubert syndrome 24 9.8 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
34 meckel syndrome, type 7 9.8 TMEM237 TMEM216 NPHP3
35 pathologic nystagmus 9.8 TMEM67 MKS1 KIF7 CEP290 AHI1
36 acrocallosal syndrome 9.8 TMEM216 RPGRIP1L KIF7 BBS2 AHI1
37 juvenile nephronophthisis 9.7 NPHP4 NPHP3 NPHP1
38 asphyxiating thoracic dystrophy 9.7 TTC21B RPGRIP1L NPHP4 ARL13B
39 joubert syndrome 9 9.6 TMEM67 TMEM216 TCTN2 RPGRIP1L CEP290 CC2D2A
40 nephronophthisis 16 9.6 NPHP4 NPHP3 NPHP1 CEP290
41 physical disorder 9.6 OFD1 MKS1 CEP290 BBS2 ARL13B
42 ciliopathy 9.6 TTC21B TMEM67 RPGRIP1L NPHP4 KIF7
43 nephronophthisis 18 9.5 TTC21B NPHP3 NPHP1
44 cogan syndrome 9.5 NPHP4 NPHP1 CEP290 CC2D2A APPL1 AHI1
45 ellis-van creveld syndrome 9.4 TTC21B TMEM216 RPGRIP1L OFD1 CEP290 ARL13B
46 infantile nephronophthisis 9.4 TTC21B NPHP4 NPHP3
47 joubert syndrome 8 9.3 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 CEP290
48 bardet-biedl syndrome 14 9.3 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
49 nephronophthisis 14 9.3 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
50 short-rib thoracic dysplasia 6 with or without polydactyly 9.3 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 OFD1

Graphical network of the top 20 diseases related to Joubert Syndrome 4:



Diseases related to Joubert Syndrome 4

Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
6 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
7 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
8 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
9 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
10 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
12 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
13 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
14 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
15 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
16 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
23 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
24 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
25 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
29 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
30 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
31 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
32 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
33 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
34 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
35 delayed gross motor development 31 HP:0002194
36 cognitive impairment 31 HP:0100543
37 generalized hypotonia 31 HP:0001290
38 malformation of the heart and great vessels 58 Occasional (29-5%)
39 abnormal pattern of respiration 58 Very frequent (99-80%)
40 nephronophthisis 31 HP:0000090
41 oral cleft 58 Occasional (29-5%)
42 hypometric saccades 31 HP:0000571
43 elongated superior cerebellar peduncle 31 HP:0011933
44 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
oculomotor apraxia
hypometric saccades
abnormal eye movements

Genitourinary Kidneys:
nephronophthisis
renal failure
tubulointerstitial medullary cystic kidney disease

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
cognitive impairment, mild
hypotonia, mild
'molar tooth sign' on mri
more

Clinical features from OMIM:

609583

UMLS symptoms related to Joubert Syndrome 4:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 4:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.29 APPL1 CC2D2A CEP290 KIF7 MKS1 NPHP3
3 growth/size/body region MP:0005378 10.28 AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
4 embryo MP:0005380 10.21 ARL13B CC2D2A KIF7 MKS1 NPHP3 OFD1
5 nervous system MP:0003631 10.19 AHI1 ARL13B BBS2 CC2D2A CEP290 KIF7
6 craniofacial MP:0005382 10.18 CC2D2A CEP290 KIF7 MKS1 NPHP3 OFD1
7 mortality/aging MP:0010768 10.13 AHI1 APPL1 ARL13B CC2D2A CEP290 KIF7
8 digestive/alimentary MP:0005381 10.11 BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
9 limbs/digits/tail MP:0005371 10.07 BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 9.97 AHI1 ARL13B BBS2 CC2D2A CEP290 MKS1
11 respiratory system MP:0005388 9.5 ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12 vision/eye MP:0005391 9.32 AHI1 BBS2 CC2D2A CEP290 KIF7 MKS1

Drugs & Therapeutics for Joubert Syndrome 4

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

# Genetic test Affiliating Genes
1 Joubert Syndrome 4 29

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

40
Kidney, Eye, Brain, Heart, Hypothalamus, Pituitary

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

(show all 18)
# Title Authors PMID Year
1
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 6 56
16155189 2006
2
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 6 56
15138899 2004
3
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
4
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
5
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
6
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 6
18565097 2008
7
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 6
17558407 2007
8
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6
17558409 2007
9
Joubert Syndrome 6
20301500 2003
10
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 6
10712196 2000
11
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 6
9856524 1998
12
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 6
9326933 1997
13
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 6
8852662 1996
14
Relationships Between Olympic Weightlifting Exercises, Peak Power of the Upper and Lower Limb, Muscle Volume and Throwing Ball Velocity in Elite Male Handball Players. 61
29996167 2019
15
Relationship between emotional intelligence and job satisfaction in newly qualified Malaysian dentists. 61
22743863 2015
16
The relationship between emotional intelligence and job stress in the faculty of medicine in Isfahan University of Medical Sciences. 61
25512914 2014
17
Molecular bases for resistance to acetyl-coenzyme A carboxylase inhibitor in Japanese foxtail (Alopecurus japonicus). 61
22461409 2012
18
Air medical program merger and stress. 61
10345780 1999

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 NPHP1, DELdeletion Pathogenic 3511
2 2q13 deletiondeletion Pathogenic 217684
3 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165163-110165163
4 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
5 NPHP1 NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)SNV Uncertain significance 288369 rs114250691 2:110920681-110920681 2:110163104-110163104
6 NPHP1 NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)SNV Uncertain significance 330732 rs375907280 2:110905597-110905597 2:110148020-110148020

Expression for Joubert Syndrome 4

Search GEO for disease gene expression data for Joubert Syndrome 4.

Pathways for Joubert Syndrome 4

GO Terms for Joubert Syndrome 4

Cellular components related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.36 UBR1 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4
2 cytoplasm GO:0005737 10.36 UBR1 TTC21B TMEM67 TMEM216 TCTN2 TCTN1
3 cytoskeleton GO:0005856 10.2 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
4 centrosome GO:0005813 10 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 CEP290
5 microtubule organizing center GO:0005815 9.97 RPGRIP1L OFD1 NPHP4 MKS1 CEP290 BBS2
6 ciliary basal body GO:0036064 9.97 RPGRIP1L OFD1 NPHP4 MKS1 KIF7 CEP290
7 MKS complex GO:0036038 9.86 TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
8 cilium GO:0005929 9.86 TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1
9 cell-cell junction GO:0005911 9.85 RPGRIP1L NPHP4 NPHP1 AHI1
10 ciliary transition zone GO:0035869 9.85 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L NPHP4
11 centriole GO:0005814 9.84 OFD1 MKS1 CEP290 AHI1
12 ciliary membrane GO:0060170 9.78 TMEM67 TCTN2 BBS2 ARL13B
13 motile cilium GO:0031514 9.74 NPHP1 BBS2 ARL13B
14 bicellular tight junction GO:0005923 9.73 RPGRIP1L NPHP4 NPHP1
15 photoreceptor connecting cilium GO:0032391 9.71 RPGRIP1L NPHP4 NPHP1 CEP290
16 non-motile cilium GO:0097730 9.7 NPHP4 ARL13B AHI1
17 cell projection GO:0042995 9.6 TTC21B TMEM67 TMEM237 TMEM216 TCTN2 TCTN1

Biological processes related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.93 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 determination of left/right symmetry GO:0007368 9.8 RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
3 smoothened signaling pathway GO:0007224 9.77 TTC21B TCTN2 MKS1 CC2D2A ARL13B
4 regulation of smoothened signaling pathway GO:0008589 9.73 TTC21B TCTN1 RPGRIP1L MKS1
5 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L MKS1 CC2D2A BBS2 ARL13B
6 cell projection organization GO:0030030 9.73 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
7 heart looping GO:0001947 9.71 NPHP3 ARL13B AHI1
8 photoreceptor cell maintenance GO:0045494 9.63 NPHP4 NPHP3 BBS2
9 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
10 motile cilium assembly GO:0044458 9.6 MKS1 CC2D2A
11 hindbrain development GO:0030902 9.59 CEP290 AHI1
12 head development GO:0060322 9.58 RPGRIP1L MKS1
13 left/right axis specification GO:0070986 9.58 ARL13B AHI1
14 embryonic brain development GO:1990403 9.57 MKS1 CC2D2A
15 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.56 OFD1 NPHP3
16 photoreceptor cell outer segment organization GO:0035845 9.55 NPHP4 AHI1
17 positive regulation of bicellular tight junction assembly GO:1903348 9.52 NPHP4 NPHP1
18 neural tube patterning GO:0021532 9.51 RPGRIP1L ARL13B
19 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
20 visual behavior GO:0007632 9.48 NPHP4 NPHP1
21 cilium assembly GO:0060271 9.47 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L

Molecular functions related to Joubert Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 UBR1 TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L

Sources for Joubert Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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