JBTS35
MCID: JBR047
MIFTS: 22

Joubert Syndrome 35 (JBTS35)

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

Aliases & Classifications for Joubert Syndrome 35

MalaCards integrated aliases for Joubert Syndrome 35:

Name: Joubert Syndrome 35 58 76 6
Jbts35 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated consanguineous families have been reported (last curated october 2018)


Classifications:



Summaries for Joubert Syndrome 35

UniProtKB/Swiss-Prot : 76 Joubert syndrome 35: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 35, is also known as jbts35. An important gene associated with Joubert Syndrome 35 is ARL3 (ADP Ribosylation Factor Like GTPase 3). Affiliated tissues include liver, kidney and brain, and related phenotypes are ptosis and ataxia

Description from OMIM: 618161

Symptoms & Phenotypes for Joubert Syndrome 35

Human phenotypes related to Joubert Syndrome 35:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 depressed nasal bridge 33 HP:0005280
5 anteverted nares 33 HP:0000463
6 progressive visual loss 33 HP:0000529
7 nyctalopia 33 HP:0000662
8 telecanthus 33 HP:0000506
9 multicystic kidney dysplasia 33 HP:0000003
10 recurrent urinary tract infections 33 HP:0000010
11 highly arched eyebrow 33 HP:0002553
12 hydronephrosis 33 HP:0000126
13 oculomotor apraxia 33 HP:0000657
14 cerebellar vermis hypoplasia 33 HP:0001320

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
developmental delay
molar tooth sign seen on brain imaging
elongation of the superior cerebellar peduncles

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
depressed nasal bridge (patient a)
upturned nares (patient a)

Head And Neck Ears:
low-set ears (patient a)

Head And Neck Eyes:
progressive visual loss
oculomotor apraxia
night blindness
ptosis (patient a)
rod-cone retinal dystrophy
more
Genitourinary Kidneys:
urinary tract infections
renal scarring
renal involvement (in some patients)
multicystic dysplastic kidney (patient a)
hydronephrosis (patient a)
more
Head And Neck Face:
dysmorphic facial features (patient a)

Laboratory Abnormalities:
cilia show normal morphology

Clinical features from OMIM:

618161

Drugs & Therapeutics for Joubert Syndrome 35

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 35

Genetic Tests for Joubert Syndrome 35

Anatomical Context for Joubert Syndrome 35

MalaCards organs/tissues related to Joubert Syndrome 35:

42
Liver, Kidney, Brain, Eye

Publications for Joubert Syndrome 35

Articles related to Joubert Syndrome 35:

# Title Authors Year
1
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. ( 30269812 )
2018

Variations for Joubert Syndrome 35

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 35:

76
# Symbol AA change Variation ID SNP ID
1 ARL3 p.Arg149Cys VAR_081202 rs776901858
2 ARL3 p.Arg149His VAR_081203 rs770782663

ClinVar genetic disease variations for Joubert Syndrome 35:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL3 NM_004311.3(ARL3): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs770782663 GRCh37 Chromosome 10, 104445628: 104445628
2 ARL3 NM_004311.3(ARL3): c.446G> A (p.Arg149His) single nucleotide variant Uncertain significance rs770782663 GRCh38 Chromosome 10, 102685871: 102685871
3 ARL3 NM_004311.3(ARL3): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 102685872: 102685872
4 ARL3 NM_004311.3(ARL3): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 104445629: 104445629

Expression for Joubert Syndrome 35

Search GEO for disease gene expression data for Joubert Syndrome 35.

Pathways for Joubert Syndrome 35

GO Terms for Joubert Syndrome 35

Sources for Joubert Syndrome 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
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50 NCI
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55 NINDS
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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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