JBTS4
MCID: JBR018
MIFTS: 52

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 57 12 20 73 29 13 6 44 15 71
Jbts4 57 12 20 73
Joubert Syndrome with Renal Anomalies 20
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®:

57 (Updated 05-Mar-2021)
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 i and simpson-golabi-behmel syndrome, type 2, 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 eye, kidney 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 Joubert Syndrome 36
Joubert Syndrome 37

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome i 10.3 OFD1 CEP290
2 simpson-golabi-behmel syndrome, type 2 10.3 OFD1 CEP290
3 orofaciodigital syndrome iv 10.3 TMEM216 OFD1
4 joubert syndrome 20 10.3 TMEM237 NPHP4
5 bardet-biedl syndrome 11 10.2 RPGRIP1L MKS1 CEP290
6 bardet-biedl syndrome 6 10.2 RPGRIP1L MKS1 CEP290
7 retinal ciliopathy 10.2 IQCB1 CEP290
8 leber congenital amaurosis 6 10.2 MKS1 CEP290
9 orofaciodigital syndrome ix 10.2 DZANK1 CCDC120
10 congenital hepatic fibrosis 10.2 TMEM67 RPGRIP1L CC2D2A AHI1
11 oligohydramnios 10.2 TMEM67 MKS1 CC2D2A
12 bardet-biedl syndrome 13 10.2 MKS1 CEP290
13 retinitis pigmentosa 34 10.2 OFD1 IQCB1
14 johanson-blizzard syndrome 10.2 TMEM216 RPGRIP1L CEP290 CC2D2A
15 cone-rod dystrophy 20 10.2 DZANK1 CCDC120
16 seckel syndrome 7 10.2 DZANK1 CCDC120
17 infantile nephronophthisis 10.1 TTC21B NPHP4
18 encephalocele 10.1 TMEM67 MKS1 CEP290 CC2D2A
19 joubert syndrome 23 10.1 DZANK1 CCDC120
20 retinitis pigmentosa 54 10.1 DZANK1 CCDC120 CC2D2A
21 meckel syndrome, type 7 10.1 TMEM237 TMEM216 MKS1 CC2D2A
22 cone-rod dystrophy 13 10.1 RPGRIP1L NPHP4 IQCB1
23 nephronophthisis 18 10.1 NPHP4 NPHP1 IQCB1
24 nephronophthisis 15 10.1 NPHP4 NPHP1 IQCB1
25 leber congenital amaurosis 3 10.1 NPHP4 IQCB1 CEP290
26 leber congenital amaurosis 8 10.1 IQCB1 CEP290
27 pathologic nystagmus 10.1 TMEM67 MKS1 KIF7 CEP290
28 polycystic kidney disease 2 with or without polycystic liver disease 10.1 TMEM67 NPHP4 MKS1 ARL13B
29 joubert syndrome 14 10.1 TMEM237 TMEM216 RPGRIP1L NPHP4 NPHP1
30 nephronophthisis 4 10.1 NPHP4 NPHP1
31 leber congenital amaurosis 10 10.1 IQCB1 CEP290
32 polycystic kidney disease 10.1 TMEM67 OFD1 MKS1 CEP290 CC2D2A
33 orofaciodigital syndrome 10.1 TMEM67 TMEM216 TCTN1 OFD1 CEP290
34 arima syndrome 10.1 TMEM237 TMEM216 NPHP4 CEP290 CC2D2A
35 kidney disease 10.0 TMEM67 NPHP4 NPHP1 CEP290 CC2D2A AHI1
36 short-rib thoracic dysplasia 3 with or without polydactyly 10.0 TTC21B IFT80 ARL13B
37 cogan syndrome 10.0 RPGRIP1L NPHP4 NPHP1 CEP290 CC2D2A AHI1
38 physical disorder 10.0 TMEM67 OFD1 MKS1 CEP290 ARL13B
39 nephronophthisis 1 10.0 RPGRIP1L NPHP4 NPHP1 MKS1 CC2D2A AHI1
40 joubert syndrome 15 10.0 TMEM237 RPGRIP1L NPHP4 NPHP1 KIF7 CC2D2A
41 alstrom syndrome 10.0 RPGRIP1L IQCB1 IFT80 CEP290
42 joubert syndrome 24 10.0 TCTN2 RPGRIP1L NPHP1 CEP290 ARL13B AHI1
43 short-rib thoracic dysplasia 2 with or without polydactyly 10.0 TTC21B IFT80
44 nephronophthisis 13 10.0 TTC21B NPHP4 NPHP1 IQCB1
45 apraxia 10.0 TMEM67 TCTN2 NPHP1 CEP290 CC2D2A AHI1
46 eye disease 9.9 NPHP4 NPHP1 IQCB1 CEP290 AHI1
47 acrocallosal syndrome 9.9 TMEM216 RPGRIP1L NPHP1 KIF7 IFT80 AHI1
48 holoprosencephaly 9.9 TMEM216 TCTN2 TCTN1 KIF7 ARL13B
49 nephronophthisis 16 9.9 TMEM67 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
50 leber congenital amaurosis 4 9.9 IQCB1 CEP290

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 46)
# 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 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
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 molar tooth sign on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0002419
8 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
9 hypotonia 31 hallmark (90%) HP:0001252
10 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
11 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
12 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
13 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
14 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
15 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
16 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
20 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
21 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
22 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
23 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
24 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
27 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
28 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
29 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
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 muscular hypotonia 58 Very frequent (99-80%)
37 cognitive impairment 31 HP:0100543
38 malformation of the heart and great vessels 58 Occasional (29-5%)
39 nephronophthisis 31 HP:0000090
40 oral cleft 58 Occasional (29-5%)
41 abnormal pattern of respiration 58 Very frequent (99-80%)
42 delayed gross motor development 31 HP:0002194
43 generalized hypotonia 31 HP:0001290
44 hypometric saccades 31 HP:0000571
45 elongated superior cerebellar peduncle 31 HP:0011933
46 thickened superior cerebellar peduncle 31 HP:0002404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 4:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 4:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 AHI1 ARL13B CC2D2A CEP290 IFT80 KIF7
2 cardiovascular system MP:0005385 10.25 CC2D2A CEP290 DZANK1 KIF7 MKS1 NPHP4
3 growth/size/body region MP:0005378 10.22 AHI1 ARL13B CC2D2A CEP290 IFT80 KIF7
4 mortality/aging MP:0010768 10.2 AHI1 ARL13B CC2D2A CEP290 DZANK1 IFT80
5 craniofacial MP:0005382 10.18 CC2D2A CEP290 IFT80 KIF7 MKS1 OFD1
6 embryo MP:0005380 10.13 ARL13B CC2D2A KIF7 MKS1 OFD1 RPGRIP1L
7 nervous system MP:0003631 10.13 AHI1 ARL13B CC2D2A CEP290 KIF7 MKS1
8 limbs/digits/tail MP:0005371 10.07 CC2D2A IFT80 KIF7 MKS1 OFD1 RPGRIP1L
9 digestive/alimentary MP:0005381 10 CC2D2A KIF7 MKS1 OFD1 RPGRIP1L TCTN2
10 renal/urinary system MP:0005367 9.93 AHI1 ARL13B CC2D2A CEP290 IFT80 MKS1
11 respiratory system MP:0005388 9.5 ARL13B CC2D2A CEP290 KIF7 MKS1 OFD1
12 vision/eye MP:0005391 9.44 AHI1 ARL13B CC2D2A CEP290 DZANK1 IFT80

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
Eye, Kidney, Brain, Hypothalamus, Pituitary, Heart

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

(show all 14)
# Title Authors PMID Year
1
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 6 57
16155189 2006
2
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 6 57
15138899 2004
3
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 6
18565097 2008
4
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 6
17558407 2007
5
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6
17558409 2007
6
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 6
10712196 2000
7
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 6
9856524 1998
8
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 6
9326933 1997
9
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 6
8852662 1996
10
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
11
Relationship between emotional intelligence and job satisfaction in newly qualified Malaysian dentists. 61
22743863 2015
12
The relationship between emotional intelligence and job stress in the faculty of medicine in Isfahan University of Medical Sciences. 61
25512914 2014
13
Molecular bases for resistance to acetyl-coenzyme A carboxylase inhibitor in Japanese foxtail (Alopecurus japonicus). 61
22461409 2012
14
Air medical program merger and stress. 61
10345780 1999

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGRIP1L NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) SNV Pathogenic 1079 rs145665129 16:53679807-53679807 16:53645895-53645895
2 RPGRIP1L NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) Deletion Pathogenic 217691 rs863225216 16:53686878-53686878 16:53652966-53652966
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) SNV Pathogenic 217694 rs778533826 16:53653024-53653024 16:53619112-53619112
4 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) Duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
5 RPGRIP1L NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) SNV Pathogenic 1080 rs267607020 16:53686624-53686624 16:53652712-53652712
6 RPGRIP1L NM_015272.5(RPGRIP1L):c.3701+1G>T SNV Pathogenic 217695 rs863225219 16:53644878-53644878 16:53610966-53610966
7 RPGRIP1L NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) Deletion Pathogenic 217692 rs863225217 16:53698893-53698893 16:53664981-53664981
8 RPGRIP1L NM_015272.5(RPGRIP1L):c.1243+1G>A SNV Pathogenic 217693 rs863225218 16:53698781-53698781 16:53664869-53664869
9 RPGRIP1L NM_015272.5(RPGRIP1L):c.2305-1G>A SNV Pathogenic 217690 rs863225215 16:53679916-53679916 16:53646004-53646004
10 RPGRIP1L NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) Deletion Pathogenic 1077 rs387906243 16:53682911-53682911 16:53648999-53648999
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
12 RPGRIP1L RPGRIP1L, 1-BP DEL, 1721A Deletion Pathogenic 1075
13 RPGRIP1L NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) SNV Pathogenic 1071 rs121918200 16:53686516-53686516 16:53652604-53652604
14 RPGRIP1L NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) SNV Pathogenic 1070 rs121918199 16:53720364-53720364 16:53686452-53686452
15 RPGRIP1L NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) SNV Pathogenic 1068 rs121918197 16:53720424-53720424 16:53686512-53686512
16 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) SNV Pathogenic 1069 rs121918198 16:53686756-53686756 16:53652844-53652844
17 NPHP1 NPHP1, DEL Deletion Pathogenic 3511
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) SNV Pathogenic 438669 rs1555616593 16:53730175-53730175 16:53696263-53696263
20 NPHP1 NM_001128178.3(NPHP1):c.555del (p.Lys185fs) Deletion Pathogenic 638899 rs766524637 2:110926098-110926098 2:110168521-110168521
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) SNV Likely pathogenic 931822 16:53720370-53720370 16:53686458-53686458
22 RPGRIP1L NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) SNV Likely pathogenic 931963 16:53686795-53686795 16:53652883-53652883
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) SNV Likely pathogenic 931964 16:53679660-53679660 16:53645748-53645748
24 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV Likely pathogenic 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
25 RPGRIP1L NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) SNV Likely pathogenic 635022 rs1567800920 16:53652959-53652959 16:53619047-53619047
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) Microsatellite Likely pathogenic 208609 rs797045104 16:53656262-53656263 16:53622350-53622351
27 RPGRIP1L NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) Duplication Likely pathogenic 212060 rs797045918 16:53698866-53698867 16:53664954-53664955
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.*270G>A SNV Uncertain significance 319641 rs549065732 16:53635718-53635718 16:53601806-53601806
29 RPGRIP1L NM_015272.5(RPGRIP1L):c.-7-10T>C SNV Uncertain significance 319671 rs886052099 16:53734652-53734652 16:53700740-53700740
30 NPHP1 NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) SNV Uncertain significance 330730 rs149887461 2:110901179-110901179 2:110143602-110143602
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) SNV Uncertain significance 319647 rs377402117 16:53636097-53636097 16:53602185-53602185
32 RPGRIP1L NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) SNV Uncertain significance 235333 rs148230131 16:53686863-53686863 16:53652951-53652951
33 RPGRIP1L NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) SNV Uncertain significance 319656 rs886052096 16:53679655-53679655 16:53645743-53645743
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) SNV Uncertain significance 286978 rs147366111 16:53690401-53690401 16:53656489-53656489
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.*626A>C SNV Uncertain significance 319636 rs886052089 16:53635362-53635362 16:53601450-53601450
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.*269C>T SNV Uncertain significance 319642 rs190566840 16:53635719-53635719 16:53601807-53601807
37 RPGRIP1L NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) SNV Uncertain significance 319655 rs141608712 16:53679538-53679538 16:53645626-53645626
38 NPHP1 NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) SNV Uncertain significance 287345 rs140469160 2:110919181-110919181 2:110161604-110161604
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) SNV Uncertain significance 319658 rs532412372 16:53679806-53679806 16:53645894-53645894
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) SNV Uncertain significance 319657 rs750235612 16:53679683-53679683 16:53645771-53645771
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.*418G>A SNV Uncertain significance 319639 rs886052090 16:53635570-53635570 16:53601658-53601658
42 NPHP1 NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) SNV Uncertain significance 330727 rs200631256 2:110881470-110881470 2:110123893-110123893
43 NPHP1 NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) SNV Uncertain significance 330737 rs886054756 2:110926060-110926060 2:110168483-110168483
44 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=) SNV Uncertain significance 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
45 RPGRIP1L NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) SNV Uncertain significance 260604 rs568801926 16:53656251-53656251 16:53622339-53622339
46 NPHP1 NM_000272.4(NPHP1):c.*250C>T SNV Uncertain significance 330726 rs150558683 2:110881118-110881118 2:110123541-110123541
47 RPGRIP1L NM_015272.5(RPGRIP1L):c.*1309C>A SNV Uncertain significance 319628 rs145688896 16:53634679-53634679 16:53600767-53600767
48 NPHP1 NM_000272.4(NPHP1):c.*322A>G SNV Uncertain significance 330725 rs886054752 2:110881046-110881046 2:110123469-110123469
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) SNV Uncertain significance 319660 rs117364872 16:53682979-53682979 16:53649067-53649067
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.*980T>C SNV Uncertain significance 319631 rs886052087 16:53635008-53635008 16:53601096-53601096

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 cytoplasm GO:0005737 10.41 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 centrosome GO:0005813 10.09 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 IQCB1
3 cilium GO:0005929 10.06 TTC21B TMEM67 TMEM237 TMEM216 RPGRIP1L OFD1
4 microtubule organizing center GO:0005815 9.97 RPGRIP1L OFD1 NPHP4 MKS1 IQCB1 CEP290
5 ciliary basal body GO:0036064 9.97 RPGRIP1L OFD1 NPHP4 MKS1 KIF7 IFT80
6 ciliary transition zone GO:0035869 9.96 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
7 centriole GO:0005814 9.93 OFD1 MKS1 IQCB1 CEP290 CCDC120 AHI1
8 MKS complex GO:0036038 9.92 TMEM67 TMEM216 TCTN2 TCTN1 MKS1 CEP290
9 cytoskeleton GO:0005856 9.89 TTC21B TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
10 photoreceptor connecting cilium GO:0032391 9.88 TMEM237 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 cell-cell junction GO:0005911 9.84 RPGRIP1L NPHP4 NPHP1 AHI1
12 motile cilium GO:0031514 9.74 OFD1 NPHP1 ARL13B
13 bicellular tight junction GO:0005923 9.73 RPGRIP1L NPHP4 NPHP1
14 ciliary membrane GO:0060170 9.72 TMEM67 TCTN2 ARL13B
15 ciliary tip GO:0097542 9.7 TTC21B KIF7 IFT80
16 non-motile cilium GO:0097730 9.69 NPHP4 ARL13B AHI1
17 cell projection GO:0042995 9.58 TTC21B TMEM67 TMEM237 TMEM216 TCTN2 TCTN1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.93 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 OFD1
2 smoothened signaling pathway GO:0007224 9.77 TTC21B TCTN2 IFT80 CC2D2A ARL13B
3 ciliary basal body-plasma membrane docking GO:0097711 9.77 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
4 determination of left/right symmetry GO:0007368 9.73 RPGRIP1L MKS1 CC2D2A ARL13B
5 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L MKS1 IFT80 CC2D2A ARL13B
6 regulation of smoothened signaling pathway GO:0008589 9.71 TTC21B TCTN1 RPGRIP1L MKS1
7 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
8 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
9 hindbrain development GO:0030902 9.57 CEP290 AHI1
10 head development GO:0060322 9.56 RPGRIP1L MKS1
11 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
12 left/right axis specification GO:0070986 9.54 ARL13B AHI1
13 photoreceptor cell outer segment organization GO:0035845 9.52 NPHP4 AHI1
14 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP4 NPHP1
15 neural tube patterning GO:0021532 9.49 RPGRIP1L ARL13B
16 receptor localization to non-motile cilium GO:0097500 9.48 IFT80 ARL13B
17 cilium assembly GO:0060271 9.47 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
18 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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