JBTS4
MCID: JBR018
MIFTS: 51

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 orofaciodigital syndrome v 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 global developmental delay

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 Joubert Syndrome 36

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

(showing 101, show less)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome v 10.5 TCTN1 OFD1
2 orofaciodigital syndrome i 10.4 OFD1 CEP290
3 meckel syndrome, type 7 10.4 TMEM216 CC2D2A
4 juvenile nephronophthisis 10.4 NPHP4 NPHP1
5 cone-rod dystrophy 13 10.4 RPGRIP1L NPHP4
6 orofaciodigital syndrome iv 10.4 TMEM216 OFD1
7 simpson-golabi-behmel syndrome, type 2 10.4 OFD1 CEP290
8 joubert syndrome 20 10.4 TMEM237 NPHP4
9 oculomotor apraxia 10.4 NPHP1 ARL13B AHI1
10 retinal aplasia 10.4 NPHP4 NPHP1 CEP290
11 nephronophthisis 13 10.3 NPHP4 NPHP1 CEP290
12 nephronophthisis 18 10.3 NPHP4 NPHP1
13 nephronophthisis 12 10.3 NPHP4 NPHP1 CEP290
14 leber congenital amaurosis 6 10.3 MKS1 CEP290
15 cerebellar hypoplasia 10.3 TMEM67 RPGRIP1L CC2D2A
16 joubert syndrome 14 10.3 TMEM237 TMEM216 NPHP4
17 nephronophthisis 15 10.3 NPHP4 NPHP1
18 congenital hepatic fibrosis 10.3 TMEM67 RPGRIP1L CC2D2A AHI1
19 oligohydramnios 10.3 TMEM67 MKS1 CC2D2A
20 joubert syndrome 15 10.3 TMEM237 RPGRIP1L NPHP4 NPHP1
21 arima syndrome 10.2 TMEM237 TMEM216 CEP290 CC2D2A
22 johanson-blizzard syndrome 10.2 TMEM216 RPGRIP1L CEP290 CC2D2A
23 nephronophthisis 1 10.2 NPHP4 NPHP1 APPL1 AHI1
24 bardet-biedl syndrome 10 10.2 TMEM216 BBS2
25 bardet-biedl syndrome 17 10.2 MKS1 BBS2
26 leber congenital amaurosis 3 10.2 NPHP4 CEP290
27 orofaciodigital syndrome ix 10.2 DZANK1 CCDC120
28 bardet-biedl syndrome 13 10.2 MKS1 CEP290 BBS2
29 bardet-biedl syndrome 11 10.2 MKS1 CEP290 BBS2
30 bardet-biedl syndrome 8 10.2 MKS1 CEP290 BBS2
31 ciliopathy 10.2 TMEM67 RPGRIP1L NPHP4 KIF7
32 bardet-biedl syndrome 3 10.2 MKS1 CEP290 BBS2
33 encephalocele 10.2 TMEM67 MKS1 CEP290 CC2D2A
34 retinitis pigmentosa 28 10.2 OFD1 CEP290
35 cone-rod dystrophy 20 10.2 DZANK1 CCDC120
36 bardet-biedl syndrome 1 10.1 TMEM216 NPHP1 KIF7 BBS2
37 joubert syndrome 23 10.1 DZANK1 CCDC120
38 kidney disease 10.1 TMEM67 NPHP4 NPHP1 CEP290 AHI1
39 bardet-biedl syndrome 18 10.1 MKS1 BBS2
40 seckel syndrome 7 10.1 DZANK1 CCDC120
41 polycystic kidney disease 2 with or without polycystic liver disease 10.1 TMEM67 NPHP4 MKS1 ARL13B
42 nephronophthisis 4 10.1 NPHP4 NPHP1
43 bardet-biedl syndrome 6 10.1 RPGRIP1L MKS1 CEP290 BBS2
44 retinitis pigmentosa 54 10.1 DZANK1 CCDC120 CC2D2A
45 retinal degeneration 10.1 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290
46 cogan syndrome 10.0 NPHP4 NPHP1 CEP290 APPL1 AHI1
47 renal-hepatic-pancreatic dysplasia 10.0 OFD1 NPHP4 NPHP1 KIF7 CEP290
48 cone-rod dystrophy 16 10.0 DZANK1 CCDC120
49 pathologic nystagmus 10.0 TMEM67 MKS1 KIF7 CEP290 AHI1
50 nephronophthisis 19 10.0 TMEM67 RPGRIP1L NPHP4 NPHP1 CEP290 AHI1
51 hyperuricemic nephropathy, familial juvenile, 1 10.0 NPHP4 NPHP1
52 joubert syndrome 24 9.9 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
53 nephronophthisis 16 9.9 TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1 CEP290
54 meckel syndrome, type 8 9.9 TMEM67 TMEM237 TMEM216 TCTN2 RPGRIP1L CC2D2A
55 asphyxiating thoracic dystrophy 9.9 RPGRIP1L NPHP4 IFT80 CEP290 ARL13B
56 alstrom syndrome 9.9 RPGRIP1L NPHP1 IFT80 CEP290 BBS2
57 nephronophthisis 11 9.9 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP1 CEP290
58 nephronophthisis 7 9.8 TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1 CEP290
59 physical disorder 9.8 TMEM67 OFD1 MKS1 CEP290 BBS2 ARL13B
60 joubert syndrome 6 9.7 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
61 bardet-biedl syndrome 14 9.7 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
62 nephronophthisis 9 9.7 TMEM67 TMEM216 RPGRIP1L NPHP4 NPHP1 MKS1
63 polydactyly 9.6 MKS1 KIF7 IFT80 CEP290 CC2D2A BBS2
64 ellis-van creveld syndrome 9.5 TMEM216 RPGRIP1L OFD1 IFT80 CEP290 BBS2
65 acrocallosal syndrome 9.5 TMEM216 RPGRIP1L OFD1 KIF7 IFT80 BBS2
66 joubert syndrome 10 9.5 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
67 apraxia 9.5 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP1
68 short-rib thoracic dysplasia 6 with or without polydactyly 9.5 TMEM67 TMEM216 TCTN2 TCTN1 OFD1 KIF7
69 orofaciodigital syndrome 9.4 TMEM67 TMEM216 TCTN1 OFD1 NPHP1 MKS1
70 nephronophthisis 14 9.4 TMEM67 TCTN2 TCTN1 RPGRIP1L NPHP4 NPHP1
71 joubert syndrome 8 9.4 TMEM67 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP1
72 joubert syndrome 9 9.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
73 joubert syndrome 7 9.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP1 MKS1
74 meckel syndrome, type 4 9.3 TMEM67 TMEM237 TMEM216 TCTN2 RPGRIP1L NPHP1
75 meckel syndrome, type 2 9.3 TMEM67 TMEM237 TMEM216 TCTN2 RPGRIP1L NPHP4
76 nephronophthisis 2 9.2 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 NPHP1
77 joubert syndrome 5 9.2 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
78 joubert syndrome 2 9.2 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP1
79 meckel syndrome, type 6 9.1 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
80 meckel syndrome, type 5 9.1 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
81 joubert syndrome 13 8.8 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
82 orofaciodigital syndrome vi 8.7 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
83 meckel syndrome, type 3 8.6 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
84 cranioectodermal dysplasia 1 8.6 TMEM67 TCTN2 RPGRIP1L OFD1 NPHP4 NPHP1
85 short-rib thoracic dysplasia 1 with or without polydactyly 8.6 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
86 coloboma of macula 8.5 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
87 primary ciliary dyskinesia 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
88 cystic kidney disease 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
89 polycystic kidney disease 4 with or without polycystic liver disease 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 NPHP4
90 leber plus disease 8.4 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
91 retinitis pigmentosa 8.4 TMEM67 TMEM216 RPGRIP1L OFD1 NPHP4 NPHP1
92 coach syndrome 8.2 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
93 visceral heterotaxy 8.2 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
94 senior-loken syndrome 1 8.2 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
95 kartagener syndrome 8.1 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
96 bardet-biedl syndrome 8.0 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
97 meckel syndrome, type 1 7.9 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
98 nephronophthisis 7.7 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
99 joubert syndrome 3 7.5 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
100 fundus dystrophy 7.4 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
101 joubert syndrome 1 7.2 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L

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 (showing 45, show less)
# 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 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
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 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
9 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
19 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
20 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
21 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
23 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
24 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
25 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
26 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
29 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
30 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
31 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
32 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
33 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
34 seizure 31 occasional (7.5%) HP:0001250
35 seizures 58 Occasional (29-5%)
36 cognitive impairment 31 HP:0100543
37 malformation of the heart and great vessels 58 Occasional (29-5%)
38 abnormal pattern of respiration 58 Very frequent (99-80%)
39 nephronophthisis 31 HP:0000090
40 oral cleft 58 Occasional (29-5%)
41 delayed gross motor development 31 HP:0002194
42 generalized hypotonia 31 HP:0001290
43 hypometric saccades 31 HP:0000571
44 elongated superior cerebellar peduncle 31 HP:0011933
45 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
cognitive impairment, mild
hypotonia, mild
'molar tooth sign' on mri
more
Genitourinary Kidneys:
nephronophthisis
renal failure
tubulointerstitial medullary cystic kidney disease

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

Clinical features from OMIM:

609583

UMLS symptoms related to Joubert Syndrome 4:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 4:

45 (showing 12, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.25 APPL1 CC2D2A CEP290 KIF7 MKS1 NPHP4
3 growth/size/body region MP:0005378 10.22 AHI1 APPL1 ARL13B BBS2 CC2D2A CEP290
4 mortality/aging MP:0010768 10.17 AHI1 APPL1 ARL13B CC2D2A CEP290 DZANK1
5 craniofacial MP:0005382 10.13 CC2D2A CEP290 IFT80 KIF7 MKS1 OFD1
6 nervous system MP:0003631 10.13 AHI1 ARL13B BBS2 CC2D2A CEP290 KIF7
7 embryo MP:0005380 10.09 ARL13B CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
8 limbs/digits/tail MP:0005371 10.07 BBS2 CC2D2A IFT80 KIF7 MKS1 OFD1
9 digestive/alimentary MP:0005381 10.06 BBS2 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 9.93 AHI1 ARL13B BBS2 CC2D2A CEP290 IFT80
11 respiratory system MP:0005388 9.5 ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12 vision/eye MP:0005391 9.44 AHI1 ARL13B BBS2 CC2D2A CEP290 DZANK1

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 NPHP1

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:

(showing 18, show less)
# Title Authors PMID Year
1
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 56 6
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 (showing 50, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)SNV Conflicting interpretations of pathogenicity 287345 rs140469160 2:110919181-110919181 2:110161604-110161604
4 NPHP1 NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)SNV Conflicting interpretations of pathogenicity 288369 rs114250691 2:110920681-110920681 2:110163104-110163104
5 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158
6 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
7 NPHP1 NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)SNV Conflicting interpretations of pathogenicity 193569 rs371112962 2:110919267-110919267 2:110161690-110161690
8 NPHP1 NM_000272.4(NPHP1):c.1438-4C>TSNV Conflicting interpretations of pathogenicity 194327 rs151204566 2:110904416-110904416 2:110146839-110146839
9 NPHP1 NM_001128178.3(NPHP1):c.*194T>CSNV Conflicting interpretations of pathogenicity 894599 2:110881174-110881174 2:110123597-110123597
10 NPHP1 NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)SNV Conflicting interpretations of pathogenicity 330730 rs149887461 2:110901179-110901179 2:110143602-110143602
11 NPHP1 NM_000272.4(NPHP1):c.456A>G (p.Ser152=)SNV Conflicting interpretations of pathogenicity 330738 rs143163969 2:110927449-110927449 2:110169872-110169872
12 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=)SNV Conflicting interpretations of pathogenicity 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
13 NPHP1 NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)SNV Uncertain significance 330737 rs886054756 2:110926060-110926060 2:110168483-110168483
14 NPHP1 NM_000272.4(NPHP1):c.*250C>TSNV Uncertain significance 330726 rs150558683 2:110881118-110881118 2:110123541-110123541
15 NPHP1 NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)SNV Uncertain significance 330733 rs886054754 2:110920664-110920664 2:110163087-110163087
16 NPHP1 NM_000272.4(NPHP1):c.669C>T (p.Gly223=)SNV Uncertain significance 330736 rs886054755 2:110922688-110922688 2:110165111-110165111
17 NPHP1 NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)SNV Uncertain significance 330732 rs375907280 2:110905597-110905597 2:110148020-110148020
18 NPHP1 NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)SNV Uncertain significance 330731 rs886054753 2:110904403-110904403 2:110146826-110146826
19 NPHP1 NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)SNV Uncertain significance 330735 rs139787582 2:110922176-110922176 2:110164599-110164599
20 NPHP1 NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)SNV Uncertain significance 892573 2:110881598-110881598 2:110124021-110124021
21 NPHP1 NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)SNV Uncertain significance 894221 2:110886786-110886786 2:110129209-110129209
22 NPHP1 NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)SNV Uncertain significance 894222 2:110889364-110889364 2:110131787-110131787
23 NPHP1 NM_001128178.3(NPHP1):c.771+148G>TSNV Uncertain significance 894647 2:110922117-110922117 2:110164540-110164540
24 NPHP1 NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)SNV Uncertain significance 894667 2:110927553-110927553 2:110169976-110169976
25 NPHP1 NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)SNV Uncertain significance 894668 2:110936089-110936089 2:110178512-110178512
26 NPHP1 NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)SNV Uncertain significance 892675 2:110959004-110959004 2:110201427-110201427
27 NPHP1 NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)SNV Uncertain significance 893477 2:110962516-110962516 2:110204939-110204939
28 NPHP1 NM_000272.4(NPHP1):c.940-5T>CSNV Uncertain significance 498608 rs201478764 2:110920717-110920717 2:110163140-110163140
29 NPHP1 NM_000272.4(NPHP1):c.1929+5A>CSNV Uncertain significance 566103 rs201030203 2:110883209-110883209 2:110125632-110125632
30 NPHP1 NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser)SNV Uncertain significance 594808 rs769509705 2:110927445-110927445 2:110169868-110169868
31 NPHP1 NM_001128178.3(NPHP1):c.*238T>CSNV Uncertain significance 894188 2:110881130-110881130 2:110123553-110123553
32 NPHP1 NM_001128178.3(NPHP1):c.*199A>GSNV Uncertain significance 894189 2:110881169-110881169 2:110123592-110123592
33 NPHP1 NC_000002.12:g.110205022G>ASNV Uncertain significance 893777 2:110962599-110962599 2:110205022-110205022
34 NPHP1 NC_000002.12:g.110123331A>TSNV Uncertain significance 893357 2:110880908-110880908
35 NPHP1 NM_001128178.3(NPHP1):c.1717-5T>GSNV Uncertain significance 893387 2:110883263-110883263 2:110125686-110125686
36 NPHP1 NM_001128178.3(NPHP1):c.1716+15T>CSNV Uncertain significance 893388 2:110886748-110886748 2:110129171-110129171
37 NPHP1 NM_001128178.3(NPHP1):c.771+178C>TSNV Uncertain significance 894253 2:110922087-110922087 2:110164510-110164510
38 NPHP1 NM_000272.4(NPHP1):c.*322A>GSNV Uncertain significance 330725 rs886054752 2:110881046-110881046 2:110123469-110123469
39 NPHP1 NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)SNV Uncertain significance 330727 rs200631256 2:110881470-110881470 2:110123893-110123893
40 NPHP1 NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)SNV Uncertain significance 330728 rs138181219 2:110883254-110883254 2:110125677-110125677
41 NPHP1 NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)SNV Uncertain significance 330729 rs573192954 2:110901126-110901126 2:110143549-110143549
42 NPHP1 NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln)SNV Uncertain significance 216416 rs780427871 2:110881541-110881541 2:110123964-110123964
43 NPHP1 NM_001128178.3(NPHP1):c.-17G>ASNV Likely benign 893478 2:110962562-110962562 2:110204985-110204985
44 NPHP1 NM_000272.4(NPHP1):c.438T>C (p.Asn146=)SNV Benign/Likely benign 462708 rs548684868 2:110927467-110927467 2:110169890-110169890
45 NPHP1 NM_000272.4(NPHP1):c.689C>T (p.Ala230Val)SNV Benign/Likely benign 235470 rs113450177 2:110922668-110922668 2:110165091-110165091
46 NPHP1 NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln)SNV Benign/Likely benign 198703 rs143174377 2:110922206-110922206 2:110164629-110164629
47 NPHP1 NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu)SNV Benign/Likely benign 129814 rs190983114 2:110962532-110962532 2:110204955-110204955
48 NPHP1 NM_000272.4(NPHP1):c.810C>T (p.Cys270=)SNV Benign 129815 rs73954628 2:110922226-110922226 2:110164649-110164649
49 NPHP1 NM_000272.4(NPHP1):c.654G>A (p.Glu218=)SNV Benign 92719 rs11675767 2:110922703-110922703 2:110165126-110165126
50 NPHP1 NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr)SNV Benign 129813 rs33958626 2:110959026-110959026 2:110201449-110201449

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:

(showing 18, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 cytosol GO:0005829 10.35 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4 NPHP1
3 centrosome GO:0005813 10.03 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 IFT80
4 cilium GO:0005929 10.03 TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1 NPHP4
5 ciliary basal body GO:0036064 10.02 RPGRIP1L OFD1 NPHP4 MKS1 KIF7 IFT80
6 microtubule organizing center GO:0005815 9.99 RPGRIP1L OFD1 NPHP4 MKS1 CEP290 BBS2
7 MKS complex GO:0036038 9.92 TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
8 ciliary transition zone GO:0035869 9.91 TMEM67 TMEM237 TMEM216 TCTN1 RPGRIP1L NPHP4
9 centriole GO:0005814 9.88 OFD1 MKS1 CEP290 CCDC120 AHI1
10 cytoskeleton GO:0005856 9.86 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
11 cell-cell junction GO:0005911 9.85 RPGRIP1L NPHP4 NPHP1 AHI1
12 motile cilium GO:0031514 9.84 OFD1 NPHP1 BBS2 ARL13B
13 ciliary membrane GO:0060170 9.8 TMEM67 TCTN2 BBS2 ARL13B
14 photoreceptor connecting cilium GO:0032391 9.8 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
15 bicellular tight junction GO:0005923 9.75 RPGRIP1L NPHP4 NPHP1
16 non-motile cilium GO:0097730 9.7 NPHP4 ARL13B AHI1
17 cell projection GO:0042995 9.6 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
18 9+0 non-motile cilium GO:0097731 9.56 IFT80 ARL13B

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

(showing 19, show less)
# 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 non-motile cilium assembly GO:1905515 9.8 TMEM216 RPGRIP1L MKS1 IFT80 CC2D2A BBS2
3 cell projection organization GO:0030030 9.73 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
4 determination of left/right symmetry GO:0007368 9.71 RPGRIP1L MKS1 CC2D2A ARL13B
5 smoothened signaling pathway GO:0007224 9.67 TCTN2 IFT80 CC2D2A ARL13B
6 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
7 regulation of smoothened signaling pathway GO:0008589 9.61 TCTN1 RPGRIP1L MKS1
8 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
9 axoneme assembly GO:0035082 9.58 OFD1 CC2D2A
10 hindbrain development GO:0030902 9.57 CEP290 AHI1
11 head development GO:0060322 9.56 RPGRIP1L MKS1
12 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
13 left/right axis specification GO:0070986 9.54 ARL13B AHI1
14 photoreceptor cell outer segment organization GO:0035845 9.52 NPHP4 AHI1
15 neural tube patterning GO:0021532 9.51 RPGRIP1L ARL13B
16 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP4 NPHP1
17 receptor localization to non-motile cilium GO:0097500 9.48 IFT80 ARL13B
18 cilium assembly GO:0060271 9.47 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
19 visual behavior GO:0007632 9.46 NPHP4 NPHP1

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
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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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