MCID: JBR041
MIFTS: 24

Joubert Syndrome 3

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

Aliases & Classifications for Joubert Syndrome 3

MalaCards integrated aliases for Joubert Syndrome 3:

Name: Joubert Syndrome 3 57 12 75 29 6 73
Jbts3 57 12 75
Joubert Syndrome, Type 3 40
Joubert Syndrome-3 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
joubert syndrome 3:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 3

UniProtKB/Swiss-Prot : 75 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 has symptoms including ataxia An important gene associated with Joubert Syndrome 3 is AHI1 (Abelson Helper Integration Site 1). Affiliated tissues include kidney and eye, and related phenotypes are nephronophthisis and open mouth

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

Symptoms & Phenotypes for Joubert Syndrome 3

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

Human phenotypes related to Joubert Syndrome 3:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 open mouth 32 HP:0000194
3 epicanthus 32 HP:0000286
4 low-set ears 32 HP:0000369
5 wide nasal bridge 32 HP:0000431
6 anteverted nares 32 HP:0000463
7 visual impairment 32 HP:0000505
8 ptosis 32 HP:0000508
9 abnormal electroretinogram 32 HP:0000512
10 retinal dystrophy 32 HP:0000556
11 pigmentary retinopathy 32 HP:0000580
12 nystagmus 32 HP:0000639
13 oculomotor apraxia 32 HP:0000657
14 intellectual disability 32 HP:0001249
15 ataxia 32 HP:0001251
16 muscular hypotonia 32 HP:0001252
17 motor delay 32 HP:0001270
18 generalized hypotonia 32 HP:0001290
19 cerebellar vermis hypoplasia 32 HP:0001320
20 molar tooth sign on mri 32 HP:0002419
21 highly arched eyebrow 32 HP:0002553
22 neonatal breathing dysregulation 32 HP:0002790
23 central apnea 32 HP:0002871
24 episodic tachypnea 32 HP:0002876
25 stage 5 chronic kidney disease 32 HP:0003774
26 elongated superior cerebellar peduncle 32 HP:0011933
27 enlarged fossa interpeduncularis 32 HP:0100951

UMLS symptoms related to Joubert Syndrome 3:


ataxia

Drugs & Therapeutics for Joubert Syndrome 3

Search Clinical Trials , NIH Clinical Center for 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
Kidney, Eye

Publications for Joubert Syndrome 3

Variations for Joubert Syndrome 3

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

75
# 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 92)
# 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_017651.4(AHI1): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs267606641 GRCh37 Chromosome 6, 135768160: 135768160
8 AHI1 NM_017651.4(AHI1): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs267606641 GRCh38 Chromosome 6, 135447022: 135447022
9 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh37 Chromosome 6, 135754263: 135754263
10 AHI1 NM_001134831.1(AHI1): c.2168G> A (p.Arg723Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434351 GRCh38 Chromosome 6, 135433125: 135433125
11 AHI1 NM_001134831.1(AHI1): c.2368_2369insT (p.Asn790Ilefs) insertion Pathogenic rs387906270 GRCh37 Chromosome 6, 135752350: 135752351
12 AHI1 NM_001134831.1(AHI1): c.2368_2369insT (p.Asn790Ilefs) insertion Pathogenic rs387906270 GRCh38 Chromosome 6, 135431212: 135431213
13 AHI1 NM_017651.4(AHI1): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201391050 GRCh37 Chromosome 6, 135778798: 135778798
14 AHI1 NM_017651.4(AHI1): c.985C> T (p.Arg329Ter) single nucleotide variant Pathogenic rs201391050 GRCh38 Chromosome 6, 135457660: 135457660
15 AHI1 NM_001134831.1(AHI1): c.1484G> A (p.Arg495His) single nucleotide variant Pathogenic rs387907003 GRCh37 Chromosome 6, 135769570: 135769570
16 AHI1 NM_001134831.1(AHI1): c.1484G> A (p.Arg495His) single nucleotide variant Pathogenic rs387907003 GRCh38 Chromosome 6, 135448432: 135448432
17 AHI1 NM_001134831.1(AHI1): c.1052G> T (p.Arg351Leu) single nucleotide variant Pathogenic rs397514726 GRCh37 Chromosome 6, 135778731: 135778731
18 AHI1 NM_001134831.1(AHI1): c.1052G> T (p.Arg351Leu) single nucleotide variant Pathogenic rs397514726 GRCh38 Chromosome 6, 135457593: 135457593
19 AHI1 NM_017651.4(AHI1): c.2174G> A (p.Trp725Ter) single nucleotide variant Pathogenic rs587783013 GRCh38 Chromosome 6, 135433119: 135433119
20 AHI1 NM_017651.4(AHI1): c.2174G> A (p.Trp725Ter) single nucleotide variant Pathogenic rs587783013 GRCh37 Chromosome 6, 135754257: 135754257
21 AHI1 NM_017651.4(AHI1): c.2598_2604delAGTGTAT (p.Ile866Metfs) deletion Pathogenic rs587783014 GRCh38 Chromosome 6, 135428648: 135428654
22 AHI1 NM_017651.4(AHI1): c.2598_2604delAGTGTAT (p.Ile866Metfs) deletion Pathogenic rs587783014 GRCh37 Chromosome 6, 135749786: 135749792
23 AHI1 NM_001134831.1(AHI1): c.2282C> T (p.Ser761Leu) single nucleotide variant Uncertain significance rs794727174 GRCh37 Chromosome 6, 135752437: 135752437
24 AHI1 NM_001134831.1(AHI1): c.2282C> T (p.Ser761Leu) single nucleotide variant Uncertain significance rs794727174 GRCh38 Chromosome 6, 135431299: 135431299
25 AHI1 NM_001134831.1(AHI1): c.1205delC (p.Pro402Leufs) deletion Likely pathogenic rs794729195 GRCh38 Chromosome 6, 135455873: 135455873
26 AHI1 NM_001134831.1(AHI1): c.1205delC (p.Pro402Leufs) deletion Likely pathogenic rs794729195 GRCh37 Chromosome 6, 135777011: 135777011
27 AHI1 NM_017651.4(AHI1): c.2087A> G (p.His696Arg) single nucleotide variant Likely pathogenic rs797045224 GRCh38 Chromosome 6, 135433206: 135433206
28 AHI1 NM_017651.4(AHI1): c.2087A> G (p.His696Arg) single nucleotide variant Likely pathogenic rs797045224 GRCh37 Chromosome 6, 135754344: 135754344
29 AHI1 NM_017651.4(AHI1): c.1861G> T (p.Gly621Ter) single nucleotide variant Pathogenic rs797045223 GRCh37 Chromosome 6, 135763771: 135763771
30 AHI1 NM_017651.4(AHI1): c.1861G> T (p.Gly621Ter) single nucleotide variant Pathogenic rs797045223 GRCh38 Chromosome 6, 135442633: 135442633
31 AHI1 NM_017651.4(AHI1): c.2561G> T (p.Cys854Phe) single nucleotide variant no interpretation for the single variant rs745507530 GRCh38 Chromosome 6, 135428691: 135428691
32 AHI1 NM_017651.4(AHI1): c.2561G> T (p.Cys854Phe) single nucleotide variant no interpretation for the single variant rs745507530 GRCh37 Chromosome 6, 135749829: 135749829
33 AHI1 NM_001134831.1(AHI1): c.2705T> A (p.Val902Asp) single nucleotide variant Pathogenic rs368788993 GRCh38 Chromosome 6, 135427226: 135427226
34 AHI1 NM_001134831.1(AHI1): c.2705T> A (p.Val902Asp) single nucleotide variant Pathogenic rs368788993 GRCh37 Chromosome 6, 135748364: 135748364
35 AHI1 NM_001134831.1(AHI1): c.2687A> G (p.His896Arg) single nucleotide variant Pathogenic rs863225135 GRCh38 Chromosome 6, 135427244: 135427244
36 AHI1 NM_001134831.1(AHI1): c.2687A> G (p.His896Arg) single nucleotide variant Pathogenic rs863225135 GRCh37 Chromosome 6, 135748382: 135748382
37 AHI1 NM_001134831.1(AHI1): c.2495T> G (p.Leu832Ter) single nucleotide variant Pathogenic rs863225131 GRCh38 Chromosome 6, 135428757: 135428757
38 AHI1 NM_001134831.1(AHI1): c.2495T> G (p.Leu832Ter) single nucleotide variant Pathogenic rs863225131 GRCh37 Chromosome 6, 135749895: 135749895
39 AHI1 NM_001134831.1(AHI1): c.2361G> T (p.Trp787Cys) single nucleotide variant Pathogenic rs863225146 GRCh38 Chromosome 6, 135431220: 135431220
40 AHI1 NM_001134831.1(AHI1): c.2361G> T (p.Trp787Cys) single nucleotide variant Pathogenic rs863225146 GRCh37 Chromosome 6, 135752358: 135752358
41 AHI1 NM_001134831.1(AHI1): c.2297G> A (p.Gly766Glu) single nucleotide variant Pathogenic rs863225139 GRCh38 Chromosome 6, 135431284: 135431284
42 AHI1 NM_001134831.1(AHI1): c.2297G> A (p.Gly766Glu) single nucleotide variant Pathogenic rs863225139 GRCh37 Chromosome 6, 135752422: 135752422
43 AHI1 NM_001134831.1(AHI1): c.2212C> T (p.Arg738Ter) single nucleotide variant Pathogenic rs372659908 GRCh38 Chromosome 6, 135433081: 135433081
44 AHI1 NM_001134831.1(AHI1): c.2212C> T (p.Arg738Ter) single nucleotide variant Pathogenic rs372659908 GRCh37 Chromosome 6, 135754219: 135754219
45 AHI1 NM_001134831.1(AHI1): c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) deletion Pathogenic rs863225140 GRCh38 Chromosome 6, 135433097: 135433106
46 AHI1 NM_001134831.1(AHI1): c.2187_2196delGAGAGAAGAT (p.Met729Ilefs) deletion Pathogenic rs863225140 GRCh37 Chromosome 6, 135754235: 135754244
47 AHI1 NM_001134831.1(AHI1): c.2173T> C (p.Trp725Arg) single nucleotide variant Pathogenic rs863225144 GRCh38 Chromosome 6, 135433120: 135433120
48 AHI1 NM_001134831.1(AHI1): c.2173T> C (p.Trp725Arg) single nucleotide variant Pathogenic rs863225144 GRCh37 Chromosome 6, 135754258: 135754258
49 AHI1 NM_001134831.1(AHI1): c.2172delA (p.Trp725Glyfs) deletion Pathogenic rs755407014 GRCh38 Chromosome 6, 135433121: 135433121
50 AHI1 NM_001134831.1(AHI1): c.2172delA (p.Trp725Glyfs) deletion Pathogenic rs755407014 GRCh37 Chromosome 6, 135754259: 135754259

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

Sources for Joubert Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....