JBTS3
MCID: JBR041
MIFTS: 36

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 57 12 74 29 6 44 15 72
Jbts3 57 12 74
Joubert Syndrome, Type 3 40
Joubert Syndrome-3 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
joubert syndrome 3:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110998
MedGen 42 C1837713
UMLS 72 C1837713

Summaries for Joubert Syndrome 3

UniProtKB/Swiss-Prot : 74 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 and kidney, 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.

More information from OMIM: 608629 PS213300

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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 ataxia 32 HP:0001251
6 muscular hypotonia 32 HP:0001252
7 wide nasal bridge 32 HP:0000431
8 anteverted nares 32 HP:0000463
9 visual impairment 32 HP:0000505
10 open mouth 32 HP:0000194
11 generalized hypotonia 32 HP:0001290
12 highly arched eyebrow 32 HP:0002553
13 epicanthus 32 HP:0000286
14 abnormal electroretinogram 32 HP:0000512
15 nephronophthisis 32 HP:0000090
16 oculomotor apraxia 32 HP:0000657
17 retinal dystrophy 32 HP:0000556
18 cerebellar vermis hypoplasia 32 HP:0001320
19 molar tooth sign on mri 32 HP:0002419
20 episodic tachypnea 32 HP:0002876
21 central apnea 32 HP:0002871
22 stage 5 chronic kidney disease 32 HP:0003774
23 pigmentary retinopathy 32 HP:0000580
24 elongated superior cerebellar peduncle 32 HP:0011933
25 delayed ability to walk 32 HP:0031936
26 neonatal breathing dysregulation 32 HP:0002790
27 enlarged fossa interpeduncularis 32 HP:0100951

Symptoms via clinical synopsis from OMIM:

57
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 29 AHI1

Anatomical Context for Joubert Syndrome 3

MalaCards organs/tissues related to Joubert Syndrome 3:

41
Eye, Kidney

Publications for Joubert Syndrome 3

Articles related to Joubert Syndrome 3:

(show all 15)
# Title Authors PMID Year
1
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 38 8 71
15322546 2004
2
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. 8 71
25616960 2015
3
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
21937992 2011
4
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 8 71
16453322 2006
5
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. 8 71
16240161 2006
6
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. 38 8
15786477 2005
7
Homozygosity mapping of a third Joubert syndrome locus to 6q23. 38 8
15060101 2004
8
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 71
23532844 2013
9
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
10
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
11
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
12
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 8
16155189 2006
13
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. 8
15467982 2004
14
Joubert Syndrome 71
20301500 2003
15
Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. 8
576733 1977

Variations for Joubert Syndrome 3

ClinVar genetic disease variations for Joubert Syndrome 3:

6 (show top 50) (show all 55)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AHI1 NM_001134831.2(AHI1): c.1051C> T (p.Arg351Ter) single nucleotide variant Pathogenic rs121434348 6:135778732-135778732 6:135457594-135457594
2 AHI1 NM_001134831.2(AHI1): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs121434349 6:135776913-135776913 6:135455775-135455775
3 AHI1 NM_001134831.2(AHI1): c.2368_2369insT (p.Asn790fs) insertion Pathogenic rs387906270 6:135752350-135752351 6:135431212-135431213
4 AHI1 NM_001134831.2(AHI1): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201391050 6:135778798-135778798 6:135457660-135457660
5 AHI1 NM_001134831.2(AHI1): c.1484G> A (p.Arg495His) single nucleotide variant Pathogenic rs387907003 6:135769570-135769570 6:135448432-135448432
6 AHI1 NM_001134831.2(AHI1): c.1052G> T (p.Arg351Leu) single nucleotide variant Pathogenic rs397514726 6:135778731-135778731 6:135457593-135457593
7 AHI1 NM_001134831.2(AHI1): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs267606641 6:135768160-135768160 6:135447022-135447022
8 AHI1 NM_001134831.2(AHI1): c.2598_2604del (p.Ile866fs) deletion Pathogenic rs587783014 6:135749786-135749792 6:135428648-135428654
9 AHI1 NM_001134831.2(AHI1): c.1861G> T (p.Gly621Ter) single nucleotide variant Pathogenic rs797045223 6:135763771-135763771 6:135442633-135442633
10 AHI1 NM_001134831.2(AHI1): c.2705T> A (p.Val902Asp) single nucleotide variant Pathogenic rs368788993 6:135748364-135748364 6:135427226-135427226
11 AHI1 NM_001134831.2(AHI1): c.2687A> G (p.His896Arg) single nucleotide variant Pathogenic rs863225135 6:135748382-135748382 6:135427244-135427244
12 AHI1 NM_001134831.2(AHI1): c.2495T> G (p.Leu832Ter) single nucleotide variant Pathogenic rs863225131 6:135749895-135749895 6:135428757-135428757
13 AHI1 NM_001134831.2(AHI1): c.2361G> T (p.Trp787Cys) single nucleotide variant Pathogenic rs863225146 6:135752358-135752358 6:135431220-135431220
14 AHI1 NM_001134831.2(AHI1): c.2297G> A (p.Gly766Glu) single nucleotide variant Pathogenic rs863225139 6:135752422-135752422 6:135431284-135431284
15 AHI1 NM_001134831.2(AHI1): c.2212C> T (p.Arg738Ter) single nucleotide variant Pathogenic rs372659908 6:135754219-135754219 6:135433081-135433081
16 AHI1 NM_001134831.2(AHI1): c.2187_2196del (p.Met729fs) deletion Pathogenic rs863225140 6:135754235-135754244 6:135433097-135433106
17 AHI1 NM_001134831.2(AHI1): c.1976A> T (p.Asp659Val) single nucleotide variant Pathogenic rs541041911 6:135759573-135759573 6:135438435-135438435
18 AHI1 NM_001134831.2(AHI1): c.1917T> A (p.Tyr639Ter) single nucleotide variant Pathogenic rs764412921 6:135759632-135759632 6:135438494-135438494
19 AHI1 NM_001134831.2(AHI1): c.1897_1898dup (p.Tyr634fs) duplication Pathogenic rs863225132 6:135763734-135763735 6:135442596-135442597
20 AHI1 NM_001134831.2(AHI1): c.1626+4_1626+5insTTAC insertion Pathogenic rs863225148 6:135769423-135769424 6:135448285-135448286
21 AHI1 NM_001134831.2(AHI1): c.1626+1G> A single nucleotide variant Pathogenic rs863225137 6:135769427-135769427 6:135448289-135448289
22 AHI1 NM_001134831.2(AHI1): c.1614del (p.Val539fs) deletion Pathogenic rs863225141 6:135769440-135769440 6:135448302-135448302
23 AHI1 NM_001134831.2(AHI1): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs371637724 6:135769538-135769538 6:135448400-135448400
24 AHI1 NM_001134831.2(AHI1): c.1267C> T (p.Gln423Ter) single nucleotide variant Pathogenic rs777668842 6:135776949-135776949 6:135455811-135455811
25 AHI1 NM_001134831.2(AHI1): c.1260G> A (p.Trp420Ter) single nucleotide variant Pathogenic rs863225143 6:135776956-135776956 6:135455818-135455818
26 AHI1 NM_001134831.2(AHI1): c.1152-2A> G single nucleotide variant Pathogenic rs753085250 6:135777066-135777066 6:135455928-135455928
27 AHI1 NM_001134831.2(AHI1): c.1115A> G (p.Asp372Gly) single nucleotide variant Pathogenic rs863225133 6:135778668-135778668 6:135457530-135457530
28 AHI1 NM_001134831.2(AHI1): c.910dup (p.Thr304fs) duplication Pathogenic rs753874898 6:135784284-135784284 6:135463146-135463146
29 AHI1 NM_001134831.2(AHI1): c.736A> T (p.Lys246Ter) single nucleotide variant Pathogenic rs863225142 6:135786965-135786965 6:135465827-135465827
30 AHI1 NM_001134831.2(AHI1): c.662C> G (p.Ser221Ter) single nucleotide variant Pathogenic rs863225138 6:135787039-135787039 6:135465901-135465901
31 AHI1 NM_001134831.2(AHI1): c.2098_2099dup (p.Tyr701fs) duplication Pathogenic rs863225136 6:135754332-135754333 6:135433194-135433195
32 AHI1 NM_001134831.2(AHI1): c.2036+1G> T single nucleotide variant Pathogenic rs776093293 6:135759512-135759512 6:135438374-135438374
33 AHI1 NM_001134831.2(AHI1): c.2023G> A (p.Asp675Asn) single nucleotide variant Pathogenic rs863225145 6:135759526-135759526 6:135438388-135438388
34 AHI1 NM_001134831.2(AHI1): c.2012C> T (p.Thr671Ile) single nucleotide variant Pathogenic rs772989270 6:135759537-135759537 6:135438399-135438399
35 AHI1 NM_001134831.2(AHI1): c.2172del (p.Trp725fs) deletion Pathogenic rs755407014 6:135754259-135754259 6:135433121-135433121
36 AHI1 NM_001134831.2(AHI1): c.2623+1G> T single nucleotide variant Pathogenic 6:135749766-135749766 6:135428628-135428628
37 AHI1 NM_001134831.2(AHI1): c.2174G> A (p.Trp725Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587783013 6:135754257-135754257 6:135433119-135433119
38 AHI1 NM_001134831.2(AHI1): c.2156A> G (p.Asp719Gly) single nucleotide variant Pathogenic/Likely pathogenic rs863225134 6:135754275-135754275 6:135433137-135433137
39 AHI1 NM_001134831.2(AHI1): c.1997A> T (p.Asp666Val) single nucleotide variant Pathogenic/Likely pathogenic rs863225147 6:135759552-135759552 6:135438414-135438414
40 AHI1 NM_001134831.2(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 6:135754263-135754263 6:135433125-135433125
41 AHI1 NM_001134831.2(AHI1): c.1328T> A (p.Val443Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434350 6:135776888-135776888 6:135455750-135455750
42 AHI1 NM_001134831.2(AHI1): c.1205del (p.Pro402fs) deletion Likely pathogenic rs794729195 6:135777011-135777011 6:135455873-135455873
43 AHI1 NM_001134831.2(AHI1): c.2087A> G (p.His696Arg) single nucleotide variant Likely pathogenic rs797045224 6:135754344-135754344 6:135433206-135433206
44 AHI1 NM_001134831.2(AHI1): c.3257A> G (p.Glu1086Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs148000791 6:135644371-135644371 6:135323233-135323233
45 AHI1 NM_001134831.2(AHI1): c.2173T> C (p.Trp725Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs863225144 6:135754258-135754258 6:135433120-135433120
46 AHI1 NM_001134831.2(AHI1): c.3503A> G (p.Glu1168Gly) single nucleotide variant Uncertain significance rs199578341 6:135611646-135611646 6:135290508-135290508
47 AHI1 NM_001134831.2(AHI1): c.2282C> T (p.Ser761Leu) single nucleotide variant Uncertain significance rs794727174 6:135752437-135752437 6:135431299-135431299
48 AHI1 NM_001134831.2(AHI1): c.3263_3264del (p.Trp1088fs) deletion Uncertain significance rs387906269 6:135644364-135644365 6:135323226-135323227
49 AHI1 NM_001134831.2(AHI1): c.108del (p.Lys36fs) deletion Uncertain significance 6:135811787-135811788 6:135490655-135490655
50 AHI1 NM_001134831.2(AHI1): c.96dup (p.Leu33fs) duplication Uncertain significance 6:135811799-135811799 6:135490667-135490667

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

74
# 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

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 NPHP1 AHI1
2 cell-cell junction GO:0005911 8.96 NPHP1 AHI1
3 adherens junction GO:0005912 8.62 NPHP1 AHI1

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 NPHP1 AHI1
2 ciliary basal body-plasma membrane docking GO:0097711 8.62 NPHP1 AHI1

Sources for Joubert Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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