JBTS15
MCID: JBR026
MIFTS: 42

Joubert Syndrome 15 (JBTS15)

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

Aliases & Classifications for Joubert Syndrome 15

MalaCards integrated aliases for Joubert Syndrome 15:

Name: Joubert Syndrome 15 57 12 73 29 13 6 15 71
Jbts15 57 12 73
Joubert Syndrome, Type 15 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
joubert syndrome 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110984
OMIM® 57 614464
OMIM Phenotypic Series 57 PS213300
UMLS 71 C3280897

Summaries for Joubert Syndrome 15

UniProtKB/Swiss-Prot : 73 Joubert syndrome 15: An autosomal recessive 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, renal disease, liver fibrosis and polydactyly.

MalaCards based summary : Joubert Syndrome 15, also known as jbts15, is related to joubert syndrome 26 and joubert syndrome 21, and has symptoms including ataxia An important gene associated with Joubert Syndrome 15 is CEP41 (Centrosomal Protein 41), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include liver, and related phenotypes are oculomotor apraxia and polydactyly

Disease Ontology : 12 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32.

OMIM® : 57 Joubert syndrome-15 is an autosomal recessive developmental disorder characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation. Other features, such as polydactyly, breathing abnormalities, and oculomotor apraxia, are variable (summary by Lee et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614464) (Updated 05-Mar-2021)

Related Diseases for Joubert Syndrome 15

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 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 26 10.2 KIF7 CEP41
2 joubert syndrome 21 10.2 KIF7 CEP41
3 congenital hepatic fibrosis 10.1 RPGRIP1L CC2D2A
4 cone-rod dystrophy 13 10.0 RPGRIP1L NPHP4
5 retinitis pigmentosa 54 10.0 TMEM231 CC2D2A
6 joubert syndrome 9 10.0 RPGRIP1L CEP41 CC2D2A
7 retinal aplasia 10.0 NPHP4 NPHP1
8 polydactyly, postaxial, type a1 10.0 KIF7 CC2D2A
9 meckel syndrome, type 7 9.9 TMEM237 TMEM231 CC2D2A
10 nephronophthisis 13 9.9 NPHP4 NPHP1
11 nephronophthisis 18 9.9 NPHP4 NPHP1
12 meckel syndrome, type 8 9.9 TMEM237 RPGRIP1L CC2D2A
13 nephronophthisis 15 9.9 NPHP4 NPHP1
14 joubert syndrome 20 9.9 TMEM237 TMEM231 NPHP4
15 nephronophthisis 4 9.9 NPHP4 NPHP1
16 tubulointerstitial kidney disease, autosomal dominant, 1 9.8 NPHP4 NPHP1
17 renal-hepatic-pancreatic dysplasia 9.8 NPHP4 NPHP1 KIF7
18 johanson-blizzard syndrome 9.8 TMEM231 RPGRIP1L CC2D2A
19 joubert syndrome 6 9.8 RPGRIP1L NPHP1 CC2D2A
20 polycystic liver disease 1 with or without kidney cysts 9.8 NPHP4 NPHP1
21 joubert syndrome 10 9.8 RPGRIP1L NPHP1 CC2D2A
22 joubert syndrome 2 9.8 RPGRIP1L NPHP1 CC2D2A
23 joubert syndrome 8 9.8 RPGRIP1L NPHP1 CC2D2A
24 bardet-biedl syndrome 1 9.8 NPHP4 NPHP1 KIF7
25 joubert syndrome 7 9.8 RPGRIP1L NPHP1 CC2D2A
26 joubert syndrome 5 9.8 RPGRIP1L NPHP1 CC2D2A
27 bardet-biedl syndrome 14 9.8 RPGRIP1L CC2D2A
28 acrocallosal syndrome 9.7 RPGRIP1L NPHP1 KIF7
29 nephronophthisis 19 9.7 RPGRIP1L NPHP4 NPHP1
30 nephronophthisis 16 9.7 RPGRIP1L NPHP4 NPHP1
31 arima syndrome 9.7 TMEM237 TMEM231 NPHP4 CC2D2A
32 polydactyly 9.7 TMEM231 RPGRIP1L KIF7 CC2D2A
33 nephronophthisis 9 9.7 RPGRIP1L NPHP4 NPHP1
34 joubert syndrome 24 9.7 TMEM231 RPGRIP1L NPHP1
35 polycystic kidney disease 1 with or without polycystic liver disease 9.7 RPGRIP1L NPHP4 NPHP1
36 joubert syndrome 13 9.6 RPGRIP1L NPHP1 KIF7 CC2D2A
37 nephronophthisis 1 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
38 cogan syndrome 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
39 nephronophthisis 11 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
40 nephronophthisis 7 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
41 nephronophthisis 14 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
42 cystic kidney disease 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
43 nephronophthisis 2 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
44 cranioectodermal dysplasia 9.6 RPGRIP1L NPHP4 NPHP1 CC2D2A
45 visceral heterotaxy 9.5 RPGRIP1L NPHP4 NPHP1 CC2D2A
46 ciliopathy 9.5 TMEM231 RPGRIP1L NPHP4 KIF7 CC2D2A
47 meckel syndrome, type 2 9.5 TMEM237 TMEM231 RPGRIP1L NPHP4 CC2D2A
48 nephronophthisis 12 9.4 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP41
49 kartagener syndrome 9.4 TMEM237 RPGRIP1L NPHP4 NPHP1 CC2D2A
50 polycystic kidney disease 4 with or without polycystic liver disease 9.3 TMEM231 RPGRIP1L NPHP4 NPHP1 CC2D2A

Graphical network of the top 20 diseases related to Joubert Syndrome 15:



Diseases related to Joubert Syndrome 15

Symptoms & Phenotypes for Joubert Syndrome 15

Human phenotypes related to Joubert Syndrome 15:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 oculomotor apraxia 31 frequent (33%) HP:0000657
2 polydactyly 31 frequent (33%) HP:0010442
3 retinopathy 31 occasional (7.5%) HP:0000488
4 ambiguous genitalia 31 occasional (7.5%) HP:0000062
5 nephronophthisis 31 occasional (7.5%) HP:0000090
6 retinal dystrophy 31 occasional (7.5%) HP:0000556
7 intellectual disability 31 HP:0001249
8 ataxia 31 HP:0001251
9 global developmental delay 31 HP:0001263
10 micropenis 31 HP:0000054
11 molar tooth sign on mri 31 HP:0002419
12 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
ataxia
hypotonia
mental retardation
delayed psychomotor development
molar tooth sign

Muscle Soft Tissue:
hypotonia

Respiratory:
breathing abnormalities (variable)

Genitourinary Kidneys:
nephronophthisis (1 patient)

Genitourinary External Genitalia Male:
micropenis
ambiguous genitalia (1 patient)

Head And Neck Eyes:
oculomotor apraxia (variable)
retinopathy (rare)

Abdomen Liver:
liver abnormalities, mild (1 patient)

Skeletal Hands:
polydactyly (variable)

Clinical features from OMIM®:

614464 (Updated 05-Mar-2021)

UMLS symptoms related to Joubert Syndrome 15:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 15:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CC2D2A CEP41 KIF7 NPHP4 RPGRIP1L TMEM231
2 nervous system MP:0003631 9.61 CC2D2A CEP41 KIF7 NPHP1 NPHP4 RPGRIP1L
3 vision/eye MP:0005391 9.1 CC2D2A KIF7 NPHP1 NPHP4 RPGRIP1L TMEM231

Drugs & Therapeutics for Joubert Syndrome 15

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 15

Genetic Tests for Joubert Syndrome 15

Genetic tests related to Joubert Syndrome 15:

# Genetic test Affiliating Genes
1 Joubert Syndrome 15 29 CEP41

Anatomical Context for Joubert Syndrome 15

MalaCards organs/tissues related to Joubert Syndrome 15:

40
Liver

Publications for Joubert Syndrome 15

Articles related to Joubert Syndrome 15:

# Title Authors PMID Year
1
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 57 6 61
22246503 2012
2
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
3
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 6
19574260 2010

Variations for Joubert Syndrome 15

ClinVar genetic disease variations for Joubert Syndrome 15:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF7 NM_198525.3(KIF7):c.811del (p.Glu271fs) Deletion Pathogenic 30901 rs797044466 15:90192317-90192317 15:89649086-89649086
2 CEP41 NM_018718.3(CEP41):c.536G>A (p.Arg179His) SNV Pathogenic 30841 rs140259402 7:130042527-130042527 7:130402686-130402686
3 CEP41 NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) SNV Pathogenic 30843 rs371812716 7:130038776-130038776 7:130398935-130398935
4 CC2D2A NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) SNV Pathogenic 30934 rs387907058 4:15597733-15597733 4:15596110-15596110
5 CEP41 NM_018718.3(CEP41):c.33+2T>G SNV Pathogenic 30838 rs1584916464 7:130080773-130080773 7:130440932-130440932
6 CEP41 CEP41, 3-BP DEL, IVS1DS, 97GAG Deletion Pathogenic 30839
7 CEP41 NM_018718.3(CEP41):c.423-2A>C SNV Pathogenic 30840 rs781815473 7:130042642-130042642 7:130402801-130402801
8 CEP41 NM_018718.3(CEP41):c.107T>C (p.Met36Thr) SNV Pathogenic 30842 rs368178632 7:130056798-130056798 7:130416957-130416957
9 CEP41 NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) SNV Pathogenic 30844 rs1584901211 7:130067810-130067810 7:130427969-130427969
10 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) SNV Pathogenic 747 rs386833750 4:15565108-15565108 4:15563485-15563485
11 CEP41 NM_018718.3(CEP41):c.423-2A>G SNV Pathogenic 954659 7:130042642-130042642 7:130402801-130402801
12 CEP41 NM_018718.3(CEP41):c.942_943del (p.Glu315fs) Deletion Likely pathogenic 692046 rs1584867379 7:130039910-130039911 7:130400069-130400070
13 CEP41 NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) SNV Conflicting interpretations of pathogenicity 707167 rs147494464 7:130080788-130080788 7:130440947-130440947
14 CEP41 NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) SNV Conflicting interpretations of pathogenicity 358942 rs143303575 7:130041748-130041748 7:130401907-130401907
15 CEP41 NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) SNV Uncertain significance 570128 rs1554417299 7:130042590-130042590 7:130402749-130402749
16 CEP41 NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) SNV Uncertain significance 631996 rs782286004 7:130038878-130038878 7:130399037-130399037
17 CEP41 NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) SNV Uncertain significance 631997 rs1562984087 7:130050996-130050996 7:130411155-130411155
18 CEP41 NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) SNV Uncertain significance 358940 rs782672149 7:130038850-130038850 7:130399009-130399009
19 CEP41 NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) SNV Uncertain significance 653434 rs782436531 7:130044444-130044444 7:130404603-130404603
20 CEP41 NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) SNV Uncertain significance 839755 7:130080804-130080804 7:130440963-130440963
21 CEP41 NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) SNV Uncertain significance 432833 rs145850728 7:130042632-130042632 7:130402791-130402791
22 CEP41 NM_018718.3(CEP41):c.422+6C>T SNV Uncertain significance 358943 rs199678365 7:130044399-130044399 7:130404558-130404558
23 CEP41 NM_018718.3(CEP41):c.226C>G (p.Leu76Val) SNV Uncertain significance 842586 7:130051014-130051014 7:130411173-130411173
24 CEP41 NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) SNV Uncertain significance 846237 7:130038877-130038877 7:130399036-130399036
25 CEP41 NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) SNV Uncertain significance 847423 7:130040068-130040068 7:130400227-130400227
26 CEP41 NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) SNV Uncertain significance 847788 7:130038817-130038817 7:130398976-130398976
27 CEP41 NM_018718.3(CEP41):c.973+404_1077del Deletion Uncertain significance 848331 7:130038777-130039476 7:130398936-130399635
28 CEP41 NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) SNV Uncertain significance 855107 7:130080803-130080803 7:130440962-130440962
29 CEP41 NM_018718.3(CEP41):c.*1056A>C SNV Uncertain significance 358929 rs574982700 7:130037676-130037676 7:130397835-130397835
30 CEP41 NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) SNV Uncertain significance 358944 rs200516165 7:130044538-130044538 7:130404697-130404697
31 CEP41 NM_018718.3(CEP41):c.*4973C>T SNV Uncertain significance 358886 rs760160179 7:130033759-130033759 7:130393918-130393918
32 CEP41 NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) SNV Uncertain significance 358945 rs111688621 7:130067840-130067840 7:130427999-130427999
33 CEP41 NM_018718.3(CEP41):c.*277A>G SNV Uncertain significance 358938 rs886062001 7:130038455-130038455 7:130398614-130398614
34 CEP41 NM_018718.3(CEP41):c.*3069T>C SNV Uncertain significance 358910 rs886061990 7:130035663-130035663 7:130395822-130395822
35 CEP41 NM_018718.3(CEP41):c.*859G>A SNV Uncertain significance 358930 rs781930185 7:130037873-130037873 7:130398032-130398032
36 CEP41 NM_018718.3(CEP41):c.*5068G>A SNV Uncertain significance 358884 rs148856430 7:130033664-130033664 7:130393823-130393823
37 CEP41 NM_018718.3(CEP41):c.*4908G>A SNV Uncertain significance 358887 rs552988501 7:130033824-130033824 7:130393983-130393983
38 CEP41 NM_018718.3(CEP41):c.*1411G>T SNV Uncertain significance 358923 rs886061996 7:130037321-130037321 7:130397480-130397480
39 CEP41 NM_018718.3(CEP41):c.*4599A>G SNV Uncertain significance 358890 rs753024852 7:130034133-130034133 7:130394292-130394292
40 CEP41 NM_018718.3(CEP41):c.*3451G>A SNV Uncertain significance 358907 rs144534675 7:130035281-130035281 7:130395440-130395440
41 CEP41 NM_018718.3(CEP41):c.*705G>A SNV Uncertain significance 358933 rs782543502 7:130038027-130038027 7:130398186-130398186
42 CEP41 NM_018718.3(CEP41):c.*2605C>T SNV Uncertain significance 358913 rs886061992 7:130036127-130036127 7:130396286-130396286
43 CEP41 NM_018718.3(CEP41):c.*409A>C SNV Uncertain significance 358936 rs782042681 7:130038323-130038323 7:130398482-130398482
44 CEP41 NM_018718.3(CEP41):c.*4391G>A SNV Uncertain significance 358893 rs782450438 7:130034341-130034341 7:130394500-130394500
45 CEP41 NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) SNV Uncertain significance 235611 rs141025803 7:130044507-130044507 7:130404666-130404666
46 CEP41 NM_018718.3(CEP41):c.*4994T>C SNV Uncertain significance 358885 rs527933839 7:130033738-130033738 7:130393897-130393897
47 CEP41 NM_018718.3(CEP41):c.*805A>G SNV Uncertain significance 358931 rs145808545 7:130037927-130037927 7:130398086-130398086
48 CEP41 NM_018718.3(CEP41):c.*680G>A SNV Uncertain significance 358934 rs146622910 7:130038052-130038052 7:130398211-130398211
49 CEP41 NM_018718.3(CEP41):c.*4866C>T SNV Uncertain significance 358888 rs782719539 7:130033866-130033866 7:130394025-130394025
50 CEP41 NM_018718.3(CEP41):c.-41C>T SNV Uncertain significance 358946 rs886062002 7:130080848-130080848 7:130441007-130441007

Expression for Joubert Syndrome 15

Search GEO for disease gene expression data for Joubert Syndrome 15.

Pathways for Joubert Syndrome 15

GO Terms for Joubert Syndrome 15

Cellular components related to Joubert Syndrome 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 TTLL6 RPGRIP1L NPHP4 NPHP1 KIF7 CNTLN
2 cell projection GO:0042995 9.81 TTLL6 TMEM237 TMEM231 RPGRIP1L NPHP4 NPHP1
3 centrosome GO:0005813 9.76 RPGRIP1L NPHP4 CNTLN CEP41
4 ciliary basal body GO:0036064 9.72 TTLL6 RPGRIP1L NPHP4 KIF7 CEP41
5 cell-cell junction GO:0005911 9.65 RPGRIP1L NPHP4 NPHP1
6 bicellular tight junction GO:0005923 9.61 RPGRIP1L NPHP4 NPHP1
7 photoreceptor connecting cilium GO:0032391 9.56 TMEM237 RPGRIP1L NPHP4 NPHP1
8 MKS complex GO:0036038 9.4 TMEM231 CC2D2A
9 ciliary transition zone GO:0035869 9.35 TMEM237 TMEM231 RPGRIP1L NPHP4 CC2D2A
10 cilium GO:0005929 9.28 TTLL6 TMEM237 TMEM231 RPGRIP1L NPHP4 NPHP1

Biological processes related to Joubert Syndrome 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.55 TMEM237 TMEM231 RPGRIP1L CEP41 CC2D2A
2 camera-type eye development GO:0043010 9.5 TMEM231 RPGRIP1L CC2D2A
3 non-motile cilium assembly GO:1905515 9.46 RPGRIP1L CC2D2A
4 protein polyglutamylation GO:0018095 9.43 TTLL6 CEP41
5 protein localization to ciliary transition zone GO:1904491 9.4 NPHP4 CC2D2A
6 positive regulation of bicellular tight junction assembly GO:1903348 9.37 NPHP4 NPHP1
7 cell projection organization GO:0030030 9.35 TMEM237 TMEM231 NPHP1 CEP41 CC2D2A
8 visual behavior GO:0007632 9.26 NPHP4 NPHP1
9 ciliary basal body-plasma membrane docking GO:0097711 9.02 RPGRIP1L NPHP4 NPHP1 CEP41 CC2D2A

Sources for Joubert Syndrome 15

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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