JBTS5
MCID: JBR012
MIFTS: 32

Joubert Syndrome 5 (JBTS5)

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

Aliases & Classifications for Joubert Syndrome 5

MalaCards integrated aliases for Joubert Syndrome 5:

Name: Joubert Syndrome 5 57 12 74 29 13 6 44 15 72
Jbts5 57 12 74
Joubert Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to senior-loken syndrome 6 () and leber congenital amaurosis type x ()


HPO:

32
joubert syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111000
MedGen 42 C1857780
UMLS 72 C1857780

Summaries for Joubert Syndrome 5

UniProtKB/Swiss-Prot : 74 Joubert syndrome 5: 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 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.

MalaCards based summary : Joubert Syndrome 5, also known as jbts5, is related to joubert syndrome with oculorenal anomalies and meckel syndrome, type 4, and has symptoms including ataxia An important gene associated with Joubert Syndrome 5 is CEP290 (Centrosomal Protein 290). Affiliated tissues include kidney, cerebellum and pons, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : 12 A Joubert syndrome that has material basis in mutation in the CEP290 gene on chromosome 12q21.

More information from OMIM: 610188 PS213300

Related Diseases for Joubert Syndrome 5

Graphical network of the top 20 diseases related to Joubert Syndrome 5:



Diseases related to Joubert Syndrome 5

Symptoms & Phenotypes for Joubert Syndrome 5

Human phenotypes related to Joubert Syndrome 5:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 ataxia 32 HP:0001251
4 muscular hypotonia 32 HP:0001252
5 generalized hypotonia 32 HP:0001290
6 rod-cone dystrophy 32 HP:0000510
7 nephronophthisis 32 HP:0000090
8 oculomotor apraxia 32 HP:0000657
9 molar tooth sign on mri 32 HP:0002419
10 episodic tachypnea 32 HP:0002876
11 central apnea 32 HP:0002871
12 stage 5 chronic kidney disease 32 HP:0003774
13 congenital blindness 32 HP:0007875
14 renal cortical cysts 32 HP:0000803
15 impaired renal concentrating ability 32 HP:0004727
16 aplasia/hypoplasia of the cerebellar vermis 32 HP:0006817
17 retinal coloboma 32 HP:0000480
18 agenesis of cerebellar vermis 32 HP:0002335
19 neonatal breathing dysregulation 32 HP:0002790
20 thickened superior cerebellar peduncle 32 HP:0002404

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculomotor apraxia
tapetoretinal degeneration
retinal coloboma
congenital amaurosis

Genitourinary Kidneys:
nephronophthisis
cortical cysts
end stage renal disease
urine concentration defect

Neurologic Central Nervous System:
ataxia
hypotonia
mental retardation
cerebellar vermis aplasia/hypoplasia
'molar tooth sign'
more
Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Clinical features from OMIM:

610188

UMLS symptoms related to Joubert Syndrome 5:


ataxia

Drugs & Therapeutics for Joubert Syndrome 5

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 5

Cochrane evidence based reviews: joubert syndrome 5

Genetic Tests for Joubert Syndrome 5

Genetic tests related to Joubert Syndrome 5:

# Genetic test Affiliating Genes
1 Joubert Syndrome 5 29 CEP290

Anatomical Context for Joubert Syndrome 5

MalaCards organs/tissues related to Joubert Syndrome 5:

41
Kidney, Cerebellum, Pons

Publications for Joubert Syndrome 5

Articles related to Joubert Syndrome 5:

(show all 13)
# Title Authors PMID Year
1
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 8 71
16682970 2006
2
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 8 71
16682973 2006
3
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 8
26092869 2015
4
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
5
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
6
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
7
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 71
17564967 2007
8
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 8
16240161 2006
9
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. 8
14981712 2004
10
Proteomic characterization of the human centrosome by protein correlation profiling. 8
14654843 2003
11
Joubert Syndrome 71
20301500 2003
12
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. 38
31346239 2019
13
Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. 38
15832356 2005

Variations for Joubert Syndrome 5

ClinVar genetic disease variations for Joubert Syndrome 5:

6 (show top 50) (show all 59)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290): c.2317dup (p.Ser773Lysfs) duplication Pathogenic rs1555218898 12:88505029-88505029 12:88111252-88111252
2 CEP290 NM_025114.3(CEP290): c.1066-1G> A single nucleotide variant Pathogenic rs965522059 12:88519147-88519147 12:88125370-88125370
3 CEP290 NM_025114.3(CEP290): c.4159dup (p.Ser1387Lysfs) duplication Pathogenic rs1555208870 12:88481592-88481592 12:88087815-88087815
4 CEP290 NM_025114.3(CEP290): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic rs776645403 12:88519134-88519134 12:88125357-88125357
5 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 12:88471040-88471040 12:88077263-88077263
6 CEP290 CEP290, 1-BP DEL, 4656A deletion Pathogenic
7 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic rs62635288 12:88535064-88535064 12:88141287-88141287
8 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 12:88494960-88494960 12:88101183-88101183
9 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 12:88477713-88477713 12:88083936-88083936
10 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 12:88471004-88471004 12:88077227-88077227
11 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) short repeat Pathogenic rs386834148 12:88514913-88514914 12:88121136-88121137
12 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 12:88508265-88508265 12:88114488-88114488
13 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 12:88530474-88530477 12:88136697-88136700
14 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 12:88487681-88487681 12:88093904-88093904
15 CEP290 NM_025114.3(CEP290): c.6939C> A (p.Tyr2313Ter) single nucleotide variant Pathogenic rs863225187 12:88449374-88449374 12:88055597-88055597
16 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 12:88456549-88456549 12:88062772-88062772
17 CEP290 NM_025114.3(CEP290): c.6072C> A (p.Tyr2024Ter) single nucleotide variant Pathogenic rs779262951 12:88462362-88462362 12:88068585-88068585
18 CEP290 NM_025114.3(CEP290): c.5932C> T (p.Arg1978Ter) single nucleotide variant Pathogenic rs371525247 12:88465150-88465150 12:88071373-88071373
19 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 12:88472889-88472889 12:88079112-88079112
20 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) short repeat Pathogenic rs756302731 12:88476853-88476854 12:88083076-88083077
21 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 12:88476938-88476938 12:88083161-88083161
22 CEP290 NM_025114.3(CEP290): c.3185delT (p.Leu1062Argfs) deletion Pathogenic rs863225189 12:88487671-88487671 12:88093894-88093894
23 CEP290 NM_025114.3(CEP290): c.3176delT (p.Ile1059Lysfs) deletion Pathogenic rs863225184 12:88487680-88487680 12:88093903-88093903
24 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 12:88478545-88478545 12:88084768-88084768
25 CEP290 NM_025114.3(CEP290): c.4452_4455delAGAA (p.Lys1484Asnfs) short repeat Pathogenic rs780624853 12:88478612-88478615 12:88084835-88084838
26 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 12:88479860-88479860 12:88086083-88086083
27 CEP290 NM_025114.3(CEP290): c.4384delG (p.Glu1462Argfs) deletion Pathogenic rs863225182 12:88479869-88479869 12:88086092-88086092
28 CEP290 NM_025114.3(CEP290): c.2343T> C (p.Asn781=) single nucleotide variant Pathogenic rs748034744 12:88505003-88505003 12:88111226-88111226
29 CEP290 NM_025114.3(CEP290): c.2112delA (p.Val705Leufs) deletion Pathogenic rs863225183 12:88505576-88505576 12:88111799-88111799
30 CEP290 NM_025114.3(CEP290): c.1666delA (p.Ile556Phefs) deletion Pathogenic rs727503855 12:88512305-88512305 12:88118528-88118528
31 CEP290 NM_025114.3(CEP290): c.1666dupA (p.Ile556Asnfs) duplication Pathogenic rs727503855 12:88512305-88512305 12:88118528-88118528
32 CEP290 NM_025114.3(CEP290): c.1623+1G> A single nucleotide variant Pathogenic rs863225186 12:88512419-88512419 12:88118642-88118642
33 CEP290 NM_025114.3(CEP290): c.654T> G (p.Tyr218Ter) single nucleotide variant Pathogenic rs863225185 12:88524060-88524060 12:88130283-88130283
34 CEP290 NM_025114.3(CEP290): c.164_167delCTCA (p.Thr55Serfs) deletion Pathogenic rs758550675 12:88534746-88534749 12:88140969-88140972
35 CEP290 NM_025114.3(CEP290): c.103-1G> T single nucleotide variant Pathogenic rs863225188 12:88534811-88534811 12:88141034-88141034
36 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 12:88471094-88471097 12:88077317-88077320
37 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 12:88482934-88482934 12:88089157-88089157
38 CEP290 NM_025114.3(CEP290): c.2251C> T (p.Arg751Ter) single nucleotide variant Pathogenic 12:88505095-88505095 12:88111318-88111318
39 CEP290 NM_025114.3(CEP290): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1170451277 12:88513984-88513984 12:88120207-88120207
40 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 12:88480227-88480227 12:88086450-88086450
41 CEP290 NM_025114.3(CEP290): c.5776C> T (p.Arg1926Ter) single nucleotide variant Likely pathogenic 12:88465637-88465637 12:88071860-88071860
42 CEP290 NM_025114.3(CEP290): c.4787_4790TAAA[1] (p.Lys1598Serfs) short repeat Likely pathogenic 12:88477640-88477644 12:88083865-88083868
43 CEP290 NM_025114.3(CEP290): c.1606C> T (p.Gln536Ter) single nucleotide variant Likely pathogenic 12:88512437-88512437 12:88118660-88118660
44 CEP290 NM_025114.4(CEP290): c.6818_6818+1dup duplication Likely pathogenic rs1060499781 12:88452623-88452624 12:88058847-88058848
45 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs760915898 12:88479815-88479815 12:88086038-88086038
46 CEP290 NM_025114.3(CEP290): c.6645+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201218801 12:88453674-88453674 12:88059897-88059897
47 CEP290 NM_025114.3(CEP290): c.2980G> A (p.Glu994Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs182369459 12:88496626-88496626 12:88102849-88102849
48 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 12:88483178-88483178 12:88089401-88089401
49 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 12:88472949-88472949 12:88079172-88079172
50 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 12:88480220-88480220 12:88086443-88086443

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 5:

74
# Symbol AA change Variation ID SNP ID
1 CEP290 p.Trp7Cys VAR_028356 rs62635288
2 CEP290 p.Glu534Lys VAR_068168 rs895126773

Expression for Joubert Syndrome 5

Search GEO for disease gene expression data for Joubert Syndrome 5.

Pathways for Joubert Syndrome 5

GO Terms for Joubert Syndrome 5

Sources for Joubert Syndrome 5

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