MCID: JBR012
MIFTS: 29

Joubert Syndrome 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 5

MalaCards integrated aliases for Joubert Syndrome 5:

Name: Joubert Syndrome 5 57 12 75 29 13 6 73
Jbts5 57 12 75
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:



Summaries for Joubert Syndrome 5

UniProtKB/Swiss-Prot : 75 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). The drugs cysteine and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, 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.

Description from OMIM: 610188

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

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

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 nephronophthisis 32 HP:0000090
6 oculomotor apraxia 32 HP:0000657
7 molar tooth sign on mri 32 HP:0002419
8 generalized hypotonia 32 HP:0001290
9 central apnea 32 HP:0002871
10 stage 5 chronic kidney disease 32 HP:0003774
11 episodic tachypnea 32 HP:0002876
12 tapetoretinal degeneration 32 HP:0000547
13 retinal coloboma 32 HP:0000480
14 congenital blindness 32 HP:0007875
15 aplasia/hypoplasia of the cerebellar vermis 32 HP:0006817
16 agenesis of cerebellar vermis 32 HP:0002335
17 renal cortical cysts 32 HP:0000803
18 impaired renal concentrating ability 32 HP:0004727
19 neonatal breathing dysregulation 32 HP:0002790
20 thickened superior cerebellar peduncle 32 HP:0002404

UMLS symptoms related to Joubert Syndrome 5:


ataxia

MGI Mouse Phenotypes related to Joubert Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.62 CEP290 TMTC3

Drugs & Therapeutics for Joubert Syndrome 5

Drugs for Joubert Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Nutraceutical Phase 1, Phase 2
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03140969 Phase 1, Phase 2 QR-110
2 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
3 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for 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, Liver

Publications for Joubert Syndrome 5

Variations for Joubert Syndrome 5

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

75
# Symbol AA change Variation ID SNP ID
1 CEP290 p.Trp7Cys VAR_028356 rs62635288
2 CEP290 p.Glu534Lys VAR_068168 rs895126773

ClinVar genetic disease variations for Joubert Syndrome 5:

6
(show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
3 CEP290 CEP290, 1-BP DEL, 4656A deletion Pathogenic
4 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic rs62635288 GRCh37 Chromosome 12, 88535064: 88535064
5 CEP290 NM_025114.3(CEP290): c.21G> T (p.Trp7Cys) single nucleotide variant Pathogenic rs62635288 GRCh38 Chromosome 12, 88141287: 88141287
6 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
7 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
8 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
9 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh38 Chromosome 12, 88083936: 88083936
10 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh37 Chromosome 12, 88471004: 88471004
11 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh38 Chromosome 12, 88077227: 88077227
12 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) deletion Pathogenic rs386834148 GRCh37 Chromosome 12, 88514913: 88514914
13 CEP290 NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs) deletion Pathogenic rs386834148 GRCh38 Chromosome 12, 88121136: 88121137
14 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh37 Chromosome 12, 88508265: 88508265
15 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 GRCh38 Chromosome 12, 88114488: 88114488
16 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh37 Chromosome 12, 88530474: 88530477
17 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 GRCh38 Chromosome 12, 88136697: 88136700
18 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
19 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
20 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh37 Chromosome 12, 88487681: 88487681
21 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh38 Chromosome 12, 88093904: 88093904
22 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh38 Chromosome 12, 88089157: 88089157
23 CEP290 NM_025114.3(CEP290): c.3904C> T (p.Gln1302Ter) single nucleotide variant Pathogenic rs587783016 GRCh37 Chromosome 12, 88482934: 88482934
24 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
25 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
26 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
27 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
28 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh37 Chromosome 12, 88508921: 88508924
29 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh38 Chromosome 12, 88115144: 88115147
30 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
31 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
32 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh37 Chromosome 12, 88453716: 88453716
33 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh38 Chromosome 12, 88059939: 88059939
34 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
35 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
36 CEP290 NM_025114.3(CEP290): c.6939C> A (p.Tyr2313Ter) single nucleotide variant Pathogenic rs863225187 GRCh38 Chromosome 12, 88055597: 88055597
37 CEP290 NM_025114.3(CEP290): c.6939C> A (p.Tyr2313Ter) single nucleotide variant Pathogenic rs863225187 GRCh37 Chromosome 12, 88449374: 88449374
38 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh38 Chromosome 12, 88062772: 88062772
39 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh37 Chromosome 12, 88456549: 88456549
40 CEP290 NM_025114.3(CEP290): c.6072C> A (p.Tyr2024Ter) single nucleotide variant Pathogenic rs779262951 GRCh38 Chromosome 12, 88068585: 88068585
41 CEP290 NM_025114.3(CEP290): c.6072C> A (p.Tyr2024Ter) single nucleotide variant Pathogenic rs779262951 GRCh37 Chromosome 12, 88462362: 88462362
42 CEP290 NM_025114.3(CEP290): c.5932C> T (p.Arg1978Ter) single nucleotide variant Pathogenic rs371525247 GRCh37 Chromosome 12, 88465150: 88465150
43 CEP290 NM_025114.3(CEP290): c.5932C> T (p.Arg1978Ter) single nucleotide variant Pathogenic rs371525247 GRCh38 Chromosome 12, 88071373: 88071373
44 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh37 Chromosome 12, 88472889: 88472889
45 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh38 Chromosome 12, 88079112: 88079112
46 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh37 Chromosome 12, 88476853: 88476854
47 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh38 Chromosome 12, 88083076: 88083077
48 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
49 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
50 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh37 Chromosome 12, 88478545: 88478545

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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