JBTS15
MCID: JBR026
MIFTS: 40

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 56 12 73 29 13 6 15 71
Jbts15 56 12 73
Joubert Syndrome, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
joubert syndrome 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110984
OMIM 56 614464
OMIM Phenotypic Series 56 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 14 and joubert syndrome 20, 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 : 56 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)

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

Diseases related to Joubert Syndrome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 14 10.0 TMEM237 NPHP4
2 joubert syndrome 20 10.0 TMEM237 NPHP4
3 meckel syndrome, type 8 10.0 TMEM237 RPGRIP1L
4 cone-rod dystrophy 13 10.0 RPGRIP1L NPHP4
5 ciliopathy 9.8 RPGRIP1L NPHP4
6 nephronophthisis 1 9.8 NPHP4 NPHP1
7 retinal aplasia 9.8 NPHP4 NPHP1
8 joubert syndrome 6 9.8 RPGRIP1L NPHP1
9 cogan syndrome 9.7 NPHP4 NPHP1
10 juvenile nephronophthisis 9.7 NPHP4 NPHP1
11 joubert syndrome 10 9.7 RPGRIP1L NPHP1
12 joubert syndrome 2 9.7 RPGRIP1L NPHP1
13 nephronophthisis 13 9.7 NPHP4 NPHP1
14 nephronophthisis 18 9.7 NPHP4 NPHP1
15 joubert syndrome 7 9.7 RPGRIP1L NPHP1
16 joubert syndrome 24 9.7 RPGRIP1L NPHP1
17 asphyxiating thoracic dystrophy 9.7 RPGRIP1L NPHP4
18 nephronophthisis 15 9.7 NPHP4 NPHP1
19 joubert syndrome 13 9.7 RPGRIP1L NPHP1
20 joubert syndrome 8 9.7 RPGRIP1L NPHP1
21 joubert syndrome 5 9.7 RPGRIP1L NPHP1
22 nephronophthisis 4 9.6 NPHP4 NPHP1
23 renal-hepatic-pancreatic dysplasia 9.6 NPHP4 NPHP1
24 hyperuricemic nephropathy, familial juvenile, 1 9.6 NPHP4 NPHP1
25 alstrom syndrome 9.6 RPGRIP1L NPHP1
26 polycystic liver disease 1 with or without kidney cysts 9.6 NPHP4 NPHP1
27 joubert syndrome 9 9.5 RPGRIP1L NPHP1 CEP41
28 nephronophthisis 12 9.5 NPHP4 NPHP1 CEP41
29 meckel syndrome, type 4 9.4 TMEM237 RPGRIP1L NPHP1
30 orofaciodigital syndrome vi 9.4 TMEM237 RPGRIP1L NPHP1
31 nephronophthisis 19 9.4 RPGRIP1L NPHP4 NPHP1
32 nephronophthisis 11 9.4 RPGRIP1L NPHP4 NPHP1
33 nephronophthisis 7 9.4 RPGRIP1L NPHP4 NPHP1
34 nephronophthisis 16 9.4 RPGRIP1L NPHP4 NPHP1
35 nephronophthisis 14 9.4 RPGRIP1L NPHP4 NPHP1
36 apraxia 9.4 RPGRIP1L NPHP1
37 nephronophthisis 9 9.4 RPGRIP1L NPHP4 NPHP1
38 nephronophthisis 2 9.4 RPGRIP1L NPHP4 NPHP1
39 cranioectodermal dysplasia 1 9.4 RPGRIP1L NPHP4 NPHP1
40 polycystic kidney disease 4 with or without polycystic liver disease 9.4 RPGRIP1L NPHP4 NPHP1
41 cystic kidney disease 9.4 RPGRIP1L NPHP4 NPHP1
42 visceral heterotaxy 9.4 RPGRIP1L NPHP4 NPHP1
43 renal fibrosis 9.2 NPHP4 NPHP1
44 short-rib thoracic dysplasia 1 with or without polydactyly 9.2 TMEM237 RPGRIP1L NPHP1 CEP41
45 retinal degeneration 9.1 RPGRIP1L NPHP4 NPHP1
46 meckel syndrome, type 2 9.1 TMEM237 RPGRIP1L NPHP4 NPHP1
47 meckel syndrome, type 5 9.1 TMEM237 RPGRIP1L NPHP4 NPHP1
48 meckel syndrome, type 6 9.1 TMEM237 RPGRIP1L NPHP4 NPHP1
49 meckel syndrome, type 3 9.1 TMEM237 RPGRIP1L NPHP4 NPHP1
50 coach syndrome 9.1 TMEM237 RPGRIP1L NPHP4 NPHP1

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 global developmental delay 31 HP:0001263
9 ataxia 31 HP:0001251
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:

56
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

UMLS symptoms related to Joubert Syndrome 15:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 15:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 CEP41 NPHP1 NPHP4 RPGRIP1L TMEM237

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. 6 61 56
22246503 2012
2
Exome sequencing can improve diagnosis and alter patient management. 6
22700954 2012
3
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
4
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
5
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 6
19574260 2010
6
Joubert Syndrome 6
20301500 2003

Variations for Joubert Syndrome 15

ClinVar genetic disease variations for Joubert Syndrome 15:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP41 NM_018718.3(CEP41):c.33+2T>GSNV Pathogenic 30838 7:130080773-130080773 7:130440932-130440932
2 CEP41 CEP41, 3-BP DEL, IVS1DS, 97GAGdeletion Pathogenic 30839
3 CEP41 NM_018718.3(CEP41):c.423-2A>CSNV Pathogenic 30840 7:130042642-130042642 7:130402801-130402801
4 CEP41 NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)SNV Pathogenic 30844 7:130067810-130067810 7:130427969-130427969
5 CEP41 NM_018718.3(CEP41):c.942_943del (p.Glu315fs)deletion Likely pathogenic 692046 7:130039910-130039911 7:130400069-130400070
6 CEP41 NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)SNV Conflicting interpretations of pathogenicity 707167 7:130080788-130080788 7:130440947-130440947
7 CEP41 NM_018718.3(CEP41):c.278-15A>CSNV Conflicting interpretations of pathogenicity 508800 rs142452124 7:130044564-130044564 7:130404723-130404723
8 CEP41 NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)SNV Conflicting interpretations of pathogenicity 358939 rs147444165 7:130038845-130038845 7:130399004-130399004
9 CEP41 NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)SNV Conflicting interpretations of pathogenicity 358942 rs143303575 7:130041748-130041748 7:130401907-130401907
10 CEP41 NM_018718.3(CEP41):c.278-15A>TSNV Conflicting interpretations of pathogenicity 384130 rs142452124 7:130044564-130044564 7:130404723-130404723
11 CEP41 NM_018718.3(CEP41):c.*2386A>GSNV Uncertain significance 358916 rs886061993 7:130036346-130036346 7:130396505-130396505
12 CEP41 NM_018718.3(CEP41):c.*3044A>GSNV Uncertain significance 358911 rs886061991 7:130035688-130035688 7:130395847-130395847
13 CEP41 NM_018718.3(CEP41):c.*2605C>TSNV Uncertain significance 358913 rs886061992 7:130036127-130036127 7:130396286-130396286
14 CEP41 NM_018718.3(CEP41):c.*2159C>TSNV Uncertain significance 358918 rs886061995 7:130036573-130036573 7:130396732-130396732
15 CEP41 NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)SNV Uncertain significance 391647 rs201834429 7:130040551-130040551 7:130400710-130400710
16 CEP41 NM_018718.3(CEP41):c.*409A>CSNV Uncertain significance 358936 rs782042681 7:130038323-130038323 7:130398482-130398482
17 CEP41 NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)SNV Uncertain significance 358940 rs782672149 7:130038850-130038850 7:130399009-130399009
18 CEP41 NM_018718.3(CEP41):c.-41C>TSNV Uncertain significance 358946 rs886062002 7:130080848-130080848 7:130441007-130441007
19 CEP41 NM_018718.3(CEP41):c.*2194C>TSNV Uncertain significance 358917 rs886061994 7:130036538-130036538 7:130396697-130396697
20 CEP41 NM_018718.3(CEP41):c.*4866C>TSNV Uncertain significance 358888 rs782719539 7:130033866-130033866 7:130394025-130394025
21 CEP41 NM_018718.3(CEP41):c.*4391G>ASNV Uncertain significance 358893 rs782450438 7:130034341-130034341 7:130394500-130394500
22 CEP41 NM_018718.3(CEP41):c.*3451G>ASNV Uncertain significance 358907 rs144534675 7:130035281-130035281 7:130395440-130395440
23 CEP41 NM_018718.3(CEP41):c.*3193C>TSNV Uncertain significance 358909 rs886061989 7:130035539-130035539 7:130395698-130395698
24 CEP41 NM_018718.3(CEP41):c.*2389G>ASNV Uncertain significance 358915 rs73152867 7:130036343-130036343 7:130396502-130396502
25 CEP41 NM_018718.3(CEP41):c.*1056A>CSNV Uncertain significance 358929 rs574982700 7:130037676-130037676 7:130397835-130397835
26 CEP41 NM_018718.3(CEP41):c.*859G>ASNV Uncertain significance 358930 rs781930185 7:130037873-130037873 7:130398032-130398032
27 CEP41 NM_018718.3(CEP41):c.*805A>GSNV Uncertain significance 358931 rs145808545 7:130037927-130037927 7:130398086-130398086
28 CEP41 NM_018718.3(CEP41):c.*680G>ASNV Uncertain significance 358934 rs146622910 7:130038052-130038052 7:130398211-130398211
29 CEP41 NM_018718.3(CEP41):c.422+6C>TSNV Uncertain significance 358943 rs199678365 7:130044399-130044399 7:130404558-130404558
30 CEP41 NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)SNV Uncertain significance 358945 rs111688621 7:130067840-130067840 7:130427999-130427999
31 CEP41 NM_018718.3(CEP41):c.*4994T>CSNV Uncertain significance 358885 rs527933839 7:130033738-130033738 7:130393897-130393897
32 CEP41 NM_018718.3(CEP41):c.*4908G>ASNV Uncertain significance 358887 rs552988501 7:130033824-130033824 7:130393983-130393983
33 CEP41 NM_018718.3(CEP41):c.*4599A>GSNV Uncertain significance 358890 rs753024852 7:130034133-130034133 7:130394292-130394292
34 CEP41 NM_018718.3(CEP41):c.*4365G>ASNV Uncertain significance 358894 rs535299613 7:130034367-130034367 7:130394526-130394526
35 CEP41 NM_018718.3(CEP41):c.*4244C>GSNV Uncertain significance 358897 rs544508687 7:130034488-130034488 7:130394647-130394647
36 CEP41 NM_018718.3(CEP41):c.*4216C>TSNV Uncertain significance 358898 rs187549864 7:130034516-130034516 7:130394675-130394675
37 CEP41 NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)SNV Uncertain significance 358944 rs200516165 7:130044538-130044538 7:130404697-130404697
38 CEP41 NM_018718.3(CEP41):c.*4659C>GSNV Uncertain significance 358889 rs886061986 7:130034073-130034073 7:130394232-130394232
39 CEP41 NM_018718.3(CEP41):c.*4007C>TSNV Uncertain significance 358900 rs782719854 7:130034725-130034725 7:130394884-130394884
40 CEP41 NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)SNV Uncertain significance 358941 rs368525533 7:130038866-130038866 7:130399025-130399025
41 CEP41 NM_018718.3(CEP41):c.*3274G>ASNV Uncertain significance 358908 rs112007936 7:130035458-130035458 7:130395617-130395617
42 CEP41 NM_018718.3(CEP41):c.*3069T>CSNV Uncertain significance 358910 rs886061990 7:130035663-130035663 7:130395822-130395822
43 CEP41 NM_018718.3(CEP41):c.*1579T>CSNV Uncertain significance 358922 rs554826749 7:130037153-130037153 7:130397312-130397312
44 CEP41 NM_018718.3(CEP41):c.*1411G>TSNV Uncertain significance 358923 rs886061996 7:130037321-130037321 7:130397480-130397480
45 CEP41 NM_018718.3(CEP41):c.*1385T>GSNV Uncertain significance 358926 rs781845516 7:130037347-130037347 7:130397506-130397506
46 CEP41 NM_018718.3(CEP41):c.*747G>ASNV Uncertain significance 358932 rs782582354 7:130037985-130037985 7:130398144-130398144
47 CEP41 NM_018718.3(CEP41):c.*705G>ASNV Uncertain significance 358933 rs782543502 7:130038027-130038027 7:130398186-130398186
48 CEP41 NM_018718.3(CEP41):c.*593G>ASNV Uncertain significance 358935 rs186685101 7:130038139-130038139 7:130398298-130398298
49 CEP41 NM_018718.3(CEP41):c.*333C>TSNV Uncertain significance 358937 rs886062000 7:130038399-130038399 7:130398558-130398558
50 CEP41 NM_018718.3(CEP41):c.*277A>GSNV Uncertain significance 358938 rs886062001 7:130038455-130038455 7:130398614-130398614

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 TTLL6 RPGRIP1L NPHP4 NPHP1 CNTLN CEP41
2 cytoskeleton GO:0005856 9.85 TTLL6 RPGRIP1L NPHP4 NPHP1 CNTLN CEP41
3 centrosome GO:0005813 9.73 RPGRIP1L NPHP4 CNTLN CEP41
4 cell projection GO:0042995 9.73 TTLL6 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP41
5 microtubule organizing center GO:0005815 9.65 RPGRIP1L NPHP4 CEP41
6 cell-cell junction GO:0005911 9.63 RPGRIP1L NPHP4 NPHP1
7 bicellular tight junction GO:0005923 9.58 RPGRIP1L NPHP4 NPHP1
8 ciliary transition zone GO:0035869 9.5 TMEM237 RPGRIP1L NPHP4
9 ciliary basal body GO:0036064 9.46 TTLL6 RPGRIP1L NPHP4 CEP41
10 photoreceptor connecting cilium GO:0032391 9.26 TMEM237 RPGRIP1L NPHP4 NPHP1
11 cilium GO:0005929 9.1 TTLL6 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP41

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 9.54 TMEM237 RPGRIP1L CEP41
2 cell projection organization GO:0030030 9.5 TMEM237 NPHP1 CEP41
3 retina development in camera-type eye GO:0060041 9.4 NPHP4 NPHP1
4 protein polyglutamylation GO:0018095 9.26 TTLL6 CEP41
5 positive regulation of bicellular tight junction assembly GO:1903348 9.16 NPHP4 NPHP1
6 visual behavior GO:0007632 8.96 NPHP4 NPHP1
7 ciliary basal body-plasma membrane docking GO:0097711 8.92 RPGRIP1L NPHP4 NPHP1 CEP41

Sources for Joubert Syndrome 15

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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