JBTS3
MCID: JBR041
MIFTS: 35

Joubert Syndrome 3 (JBTS3)

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

Aliases & Classifications for Joubert Syndrome 3

MalaCards integrated aliases for Joubert Syndrome 3:

Name: Joubert Syndrome 3 58 12 76 30 6 45 15 74
Jbts3 58 12 76
Joubert Syndrome, Type 3 41
Joubert Syndrome-3 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

33
joubert syndrome 3:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 3

UniProtKB/Swiss-Prot : 76 Joubert syndrome 3: 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 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.

MalaCards based summary : Joubert Syndrome 3, also known as jbts3, is related to joubert syndrome with ocular anomalies and joubert syndrome 2, and has symptoms including ataxia An important gene associated with Joubert Syndrome 3 is AHI1 (Abelson Helper Integration Site 1). Affiliated tissues include eye, kidney and liver, and related phenotypes are low-set ears and ptosis

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the AHI1 gene on chromosome 6q23.3.

Description from OMIM: 608629

Related Diseases for Joubert Syndrome 3

Graphical network of the top 20 diseases related to Joubert Syndrome 3:



Diseases related to Joubert Syndrome 3

Symptoms & Phenotypes for Joubert Syndrome 3

Human phenotypes related to Joubert Syndrome 3:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 ptosis 33 HP:0000508
3 nystagmus 33 HP:0000639
4 intellectual disability 33 HP:0001249
5 ataxia 33 HP:0001251
6 muscular hypotonia 33 HP:0001252
7 wide nasal bridge 33 HP:0000431
8 anteverted nares 33 HP:0000463
9 visual impairment 33 HP:0000505
10 epicanthus 33 HP:0000286
11 abnormal electroretinogram 33 HP:0000512
12 open mouth 33 HP:0000194
13 highly arched eyebrow 33 HP:0002553
14 nephronophthisis 33 HP:0000090
15 generalized hypotonia 33 HP:0001290
16 oculomotor apraxia 33 HP:0000657
17 retinal dystrophy 33 HP:0000556
18 cerebellar vermis hypoplasia 33 HP:0001320
19 molar tooth sign on mri 33 HP:0002419
20 episodic tachypnea 33 HP:0002876
21 central apnea 33 HP:0002871
22 stage 5 chronic kidney disease 33 HP:0003774
23 pigmentary retinopathy 33 HP:0000580
24 elongated superior cerebellar peduncle 33 HP:0011933
25 delayed ability to walk 33 HP:0031936
26 neonatal breathing dysregulation 33 HP:0002790
27 enlarged fossa interpeduncularis 33 HP:0100951

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
hypotonia
delayed motor development
mental retardation
more
Head And Neck Nose:
broad nasal bridge
anteverted nostrils

Head And Neck Face:
high-rounded eyebrows

Head And Neck Eyes:
ptosis
nystagmus
oculomotor apraxia
retinal dystrophy
pigmentary retinopathy
more
Respiratory:
central apnea
neonatal breathing dysregulation
hyperpnea, episodic
tachypnea, episodic

Genitourinary Kidneys:
end-stage renal disease
nephronophthisis (less common)

Head And Neck Mouth:
triangular-shaped, open mouth

Clinical features from OMIM:

608629

UMLS symptoms related to Joubert Syndrome 3:


ataxia

Drugs & Therapeutics for Joubert Syndrome 3

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 3

Cochrane evidence based reviews: joubert syndrome 3

Genetic Tests for Joubert Syndrome 3

Genetic tests related to Joubert Syndrome 3:

# Genetic test Affiliating Genes
1 Joubert Syndrome 3 30 AHI1

Anatomical Context for Joubert Syndrome 3

MalaCards organs/tissues related to Joubert Syndrome 3:

42
Eye, Kidney, Liver

Publications for Joubert Syndrome 3

Articles related to Joubert Syndrome 3:

# Title Authors Year
1
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. ( 25616960 )
2015
2
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. ( 23532844 )
2013
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
4
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. ( 16240161 )
2006
5
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. ( 16453322 )
2006
6
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. ( 15322546 )
2004

Variations for Joubert Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 AHI1 p.Val443Asp VAR_023391 rs121434350
2 AHI1 p.Arg723Gln VAR_037894 rs121434351
3 AHI1 p.Arg351Leu VAR_071194 rs397514726
4 AHI1 p.Thr671Ile VAR_076820 rs772989270
5 AHI1 p.Asp719Gly VAR_076821 rs863225134
6 AHI1 p.His896Arg VAR_076822 rs863225135

ClinVar genetic disease variations for Joubert Syndrome 3:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 AHI1 NM_001134831.1(AHI1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic rs121434348 GRCh37 Chromosome 6, 135778732: 135778732
2 AHI1 NM_001134831.1(AHI1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic rs121434348 GRCh38 Chromosome 6, 135457594: 135457594
3 AHI1 NM_001134831.1(AHI1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121434349 GRCh37 Chromosome 6, 135776913: 135776913
4 AHI1 NM_001134831.1(AHI1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121434349 GRCh38 Chromosome 6, 135455775: 135455775
5 AHI1 NM_001134832.1(AHI1): c.1328T> A (p.Val443Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434350 GRCh37 Chromosome 6, 135776888: 135776888
6 AHI1 NM_001134832.1(AHI1): c.1328T> A (p.Val443Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434350 GRCh38 Chromosome 6, 135455750: 135455750
7 AHI1 NM_001134831.1(AHI1): c.3263_3264delGG (p.Trp1088Leufs) deletion Uncertain significance rs387906269 GRCh37 Chromosome 6, 135644364: 135644365
8 AHI1 NM_001134831.1(AHI1): c.3263_3264delGG (p.Trp1088Leufs) deletion Uncertain significance rs387906269 GRCh38 Chromosome 6, 135323226: 135323227
9 AHI1 NM_017651.4(AHI1): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs267606641 GRCh37 Chromosome 6, 135768160: 135768160
10 AHI1 NM_017651.4(AHI1): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs267606641 GRCh38 Chromosome 6, 135447022: 135447022
11 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
12 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh38 Chromosome 6, 135433125: 135433125
13 AHI1 NM_001134831.1(AHI1): c.2368_2369insT (p.Asn790Ilefs) insertion Pathogenic rs387906270 GRCh37 Chromosome 6, 135752350: 135752351
14 AHI1 NM_001134831.1(AHI1): c.2368_2369insT (p.Asn790Ilefs) insertion Pathogenic rs387906270 GRCh38 Chromosome 6, 135431212: 135431213
15 AHI1 NM_017651.4(AHI1): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201391050 GRCh37 Chromosome 6, 135778798: 135778798
16 AHI1 NM_017651.4(AHI1): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201391050 GRCh38 Chromosome 6, 135457660: 135457660
17 AHI1 NM_001134831.1(AHI1): c.1484G> A (p.Arg495His) single nucleotide variant Pathogenic rs387907003 GRCh37 Chromosome 6, 135769570: 135769570
18 AHI1 NM_001134831.1(AHI1): c.1484G> A (p.Arg495His) single nucleotide variant Pathogenic rs387907003 GRCh38 Chromosome 6, 135448432: 135448432
19 AHI1 NM_001134831.1(AHI1): c.1052G> T (p.Arg351Leu) single nucleotide variant Pathogenic rs397514726 GRCh37 Chromosome 6, 135778731: 135778731
20 AHI1 NM_001134831.1(AHI1): c.1052G> T (p.Arg351Leu) single nucleotide variant Pathogenic rs397514726 GRCh38 Chromosome 6, 135457593: 135457593
21 AHI1 NM_017651.4(AHI1): c.3368C> T (p.Ser1123Phe) single nucleotide variant Benign/Likely benign rs117447608 GRCh37 Chromosome 6, 135639715: 135639715
22 AHI1 NM_017651.4(AHI1): c.3368C> T (p.Ser1123Phe) single nucleotide variant Benign/Likely benign rs117447608 GRCh38 Chromosome 6, 135318577: 135318577
23 AHI1 NM_017651.4(AHI1): c.3426+13G> A single nucleotide variant Benign rs6914831 GRCh37 Chromosome 6, 135639644: 135639644
24 AHI1 NM_017651.4(AHI1): c.3426+13G> A single nucleotide variant Benign rs6914831 GRCh38 Chromosome 6, 135318506: 135318506
25 AHI1 NM_017651.4(AHI1): c.3257A> G (p.Glu1086Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148000791 GRCh37 Chromosome 6, 135644371: 135644371
26 AHI1 NM_017651.4(AHI1): c.3257A> G (p.Glu1086Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148000791 GRCh38 Chromosome 6, 135323233: 135323233
27 AHI1 NM_017651.4(AHI1): c.2174G> A (p.Trp725Ter) single nucleotide variant Pathogenic rs587783013 GRCh38 Chromosome 6, 135433119: 135433119
28 AHI1 NM_017651.4(AHI1): c.2174G> A (p.Trp725Ter) single nucleotide variant Pathogenic rs587783013 GRCh37 Chromosome 6, 135754257: 135754257
29 AHI1 NM_017651.4(AHI1): c.2598_2604delAGTGTAT (p.Ile866Metfs) deletion Pathogenic rs587783014 GRCh38 Chromosome 6, 135428648: 135428654
30 AHI1 NM_017651.4(AHI1): c.2598_2604delAGTGTAT (p.Ile866Metfs) deletion Pathogenic rs587783014 GRCh37 Chromosome 6, 135749786: 135749792
31 AHI1 NM_001134831.1(AHI1): c.2282C> T (p.Ser761Leu) single nucleotide variant Uncertain significance rs794727174 GRCh37 Chromosome 6, 135752437: 135752437
32 AHI1 NM_001134831.1(AHI1): c.2282C> T (p.Ser761Leu) single nucleotide variant Uncertain significance rs794727174 GRCh38 Chromosome 6, 135431299: 135431299
33 AHI1 NM_001134831.1(AHI1): c.1205delC (p.Pro402Leufs) deletion Likely pathogenic rs794729195 GRCh38 Chromosome 6, 135455873: 135455873
34 AHI1 NM_001134831.1(AHI1): c.1205delC (p.Pro402Leufs) deletion Likely pathogenic rs794729195 GRCh37 Chromosome 6, 135777011: 135777011
35 AHI1 NM_017651.4(AHI1): c.2087A> G (p.His696Arg) single nucleotide variant Likely pathogenic rs797045224 GRCh38 Chromosome 6, 135433206: 135433206
36 AHI1 NM_017651.4(AHI1): c.2087A> G (p.His696Arg) single nucleotide variant Likely pathogenic rs797045224 GRCh37 Chromosome 6, 135754344: 135754344
37 AHI1 NM_017651.4(AHI1): c.1861G> T (p.Gly621Ter) single nucleotide variant Pathogenic rs797045223 GRCh37 Chromosome 6, 135763771: 135763771
38 AHI1 NM_017651.4(AHI1): c.1861G> T (p.Gly621Ter) single nucleotide variant Pathogenic rs797045223 GRCh38 Chromosome 6, 135442633: 135442633
39 AHI1 NM_001134831.1(AHI1): c.2705T> A (p.Val902Asp) single nucleotide variant Pathogenic rs368788993 GRCh38 Chromosome 6, 135427226: 135427226
40 AHI1 NM_001134831.1(AHI1): c.2705T> A (p.Val902Asp) single nucleotide variant Pathogenic rs368788993 GRCh37 Chromosome 6, 135748364: 135748364
41 AHI1 NM_001134831.1(AHI1): c.2687A> G (p.His896Arg) single nucleotide variant Pathogenic rs863225135 GRCh38 Chromosome 6, 135427244: 135427244
42 AHI1 NM_001134831.1(AHI1): c.2687A> G (p.His896Arg) single nucleotide variant Pathogenic rs863225135 GRCh37 Chromosome 6, 135748382: 135748382
43 AHI1 NM_001134831.1(AHI1): c.2495T> G (p.Leu832Ter) single nucleotide variant Pathogenic rs863225131 GRCh38 Chromosome 6, 135428757: 135428757
44 AHI1 NM_001134831.1(AHI1): c.2495T> G (p.Leu832Ter) single nucleotide variant Pathogenic rs863225131 GRCh37 Chromosome 6, 135749895: 135749895
45 AHI1 NM_001134831.1(AHI1): c.2361G> T (p.Trp787Cys) single nucleotide variant Pathogenic rs863225146 GRCh38 Chromosome 6, 135431220: 135431220
46 AHI1 NM_001134831.1(AHI1): c.2361G> T (p.Trp787Cys) single nucleotide variant Pathogenic rs863225146 GRCh37 Chromosome 6, 135752358: 135752358
47 AHI1 NM_001134831.1(AHI1): c.2297G> A (p.Gly766Glu) single nucleotide variant Pathogenic rs863225139 GRCh38 Chromosome 6, 135431284: 135431284
48 AHI1 NM_001134831.1(AHI1): c.2297G> A (p.Gly766Glu) single nucleotide variant Pathogenic rs863225139 GRCh37 Chromosome 6, 135752422: 135752422
49 AHI1 NM_001134831.1(AHI1): c.2212C> T (p.Arg738Ter) single nucleotide variant Pathogenic rs372659908 GRCh38 Chromosome 6, 135433081: 135433081
50 AHI1 NM_001134831.1(AHI1): c.2212C> T (p.Arg738Ter) single nucleotide variant Pathogenic rs372659908 GRCh37 Chromosome 6, 135754219: 135754219

Expression for Joubert Syndrome 3

Search GEO for disease gene expression data for Joubert Syndrome 3.

Pathways for Joubert Syndrome 3

GO Terms for Joubert Syndrome 3

Cellular components related to Joubert Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.16 AHI1 NPHP1
2 cell-cell junction GO:0005911 8.96 AHI1 NPHP1
3 adherens junction GO:0005912 8.62 AHI1 NPHP1

Biological processes related to Joubert Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 8.96 AHI1 NPHP1
2 ciliary basal body-plasma membrane docking GO:0097711 8.62 AHI1 NPHP1

Sources for Joubert Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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