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 57 72 29 6
Jbts35 57 72
Syndrome, Joubert, Type 35 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
joubert syndrome 35:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 35

UniProtKB/Swiss-Prot : 72 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 kidney and brain, and related phenotypes are ptosis and ataxia

OMIM® : 57 Joubert syndrome-35 is an autosomal recessive disorder characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia. Some patients have renal and retinal involvement (Alkanderi et al., 2018). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (618161) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Joubert Syndrome 35

Human phenotypes related to Joubert Syndrome 35:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 abnormal facial shape 31 HP:0001999
6 anteverted nares 31 HP:0000463
7 progressive visual loss 31 HP:0000529
8 low-set ears 31 HP:0000369
9 hydronephrosis 31 HP:0000126
10 highly arched eyebrow 31 HP:0002553
11 telecanthus 31 HP:0000506
12 recurrent urinary tract infections 31 HP:0000010
13 nyctalopia 31 HP:0000662
14 multicystic kidney dysplasia 31 HP:0000003
15 cerebellar vermis hypoplasia 31 HP:0001320
16 oculomotor apraxia 31 HP:0000657
17 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
rod-cone retinal dystrophy
telecanthus (patient a)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 35

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 35

Genetic Tests for Joubert Syndrome 35

Genetic tests related to Joubert Syndrome 35:

# Genetic test Affiliating Genes
1 Joubert Syndrome 35 29 ARL3

Anatomical Context for Joubert Syndrome 35

MalaCards organs/tissues related to Joubert Syndrome 35:

40
Kidney, Brain

Publications for Joubert Syndrome 35

Articles related to Joubert Syndrome 35:

# Title Authors PMID Year
1
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. 57 6
30269812 2018
2
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. 57
16565502 2006

Variations for Joubert Syndrome 35

ClinVar genetic disease variations for Joubert Syndrome 35:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL3 NM_004311.4(ARL3):c.445C>T (p.Arg149Cys) SNV Pathogenic 587372 rs776901858 GRCh37: 10:104445629-104445629
GRCh38: 10:102685872-102685872
2 ARL3 NM_004311.4(ARL3):c.446G>A (p.Arg149His) SNV Pathogenic 424963 rs770782663 GRCh37: 10:104445628-104445628
GRCh38: 10:102685871-102685871

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

72
# Symbol AA change Variation ID SNP ID
1 ARL3 p.Arg149Cys VAR_081202 rs776901858
2 ARL3 p.Arg149His VAR_081203 rs770782663

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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