JBTS30
MCID: JBR040
MIFTS: 25

Joubert Syndrome 30 (JBTS30)

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

Aliases & Classifications for Joubert Syndrome 30

MalaCards integrated aliases for Joubert Syndrome 30:

Name: Joubert Syndrome 30 57 12 72 29 6
Jbts30 57 72
Syndrome, Joubert, Type 30 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
variable extraneurologic manifestations
no hepatic or renal involvement


HPO:

31
joubert syndrome 30:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Joubert Syndrome 30

UniProtKB/Swiss-Prot : 72 Joubert syndrome 30: 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. JBTS30 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 30, is also known as jbts30. An important gene associated with Joubert Syndrome 30 is ARMC9 (Armadillo Repeat Containing 9). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and abnormality of eye movement

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37.

More information from OMIM: 617622 PS213300

Symptoms & Phenotypes for Joubert Syndrome 30

Human phenotypes related to Joubert Syndrome 30:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 abnormality of eye movement 31 very rare (1%) HP:0000496
3 ptosis 31 very rare (1%) HP:0000508
4 global developmental delay 31 very rare (1%) HP:0001263
5 dandy-walker malformation 31 very rare (1%) HP:0001305
6 reduced visual acuity 31 very rare (1%) HP:0007663
7 apnea 31 very rare (1%) HP:0002104
8 postaxial hand polydactyly 31 very rare (1%) HP:0001162
9 cerebellar atrophy 31 very rare (1%) HP:0001272
10 tachypnea 31 very rare (1%) HP:0002789
11 gray matter heterotopia 31 very rare (1%) HP:0002282
12 retinal dystrophy 31 very rare (1%) HP:0000556
13 molar tooth sign on mri 31 very rare (1%) HP:0002419
14 seizure 31 very rare (1%) HP:0001250
15 delayed speech and language development 31 HP:0000750
16 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures (in some patients)
speech delay
delayed psychomotor development
molar tooth sign on brain imaging
more
Respiratory:
apnea
tachypnea
breathing abnormalities

Skeletal Hands:
polydactyly, postaxial (in some patients)

Head And Neck Eyes:
ptosis
abnormal eye movements
retinal dystrophy (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

617622 (Updated 05-Apr-2021)

Drugs & Therapeutics for Joubert Syndrome 30

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 30

Genetic Tests for Joubert Syndrome 30

Genetic tests related to Joubert Syndrome 30:

# Genetic test Affiliating Genes
1 Joubert Syndrome 30 29 ARMC9

Anatomical Context for Joubert Syndrome 30

MalaCards organs/tissues related to Joubert Syndrome 30:

40
Eye, Brain

Publications for Joubert Syndrome 30

Articles related to Joubert Syndrome 30:

# Title Authors PMID Year
1
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. 6 57
28625504 2017
2
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. 6
29159890 2018

Variations for Joubert Syndrome 30

ClinVar genetic disease variations for Joubert Syndrome 30:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARMC9 NM_001352754.2(ARMC9):c.1474+1G>C SNV Pathogenic 427934 rs1114167448 GRCh37: 2:232141489-232141489
GRCh38: 2:231276776-231276776
2 ARMC9 NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) SNV Pathogenic 427936 rs1114167449 GRCh37: 2:232146779-232146779
GRCh38: 2:231282066-231282066
3 ARMC9 NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) SNV Pathogenic 427930 rs750247691 GRCh37: 2:232079571-232079571
GRCh38: 2:231214858-231214858
4 ARMC9 NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) SNV Pathogenic 427937 rs759799287 GRCh37: 2:232127019-232127019
GRCh38: 2:231262306-231262306
5 ARMC9 NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) SNV Pathogenic 427935 rs780265931 GRCh37: 2:232141488-232141488
GRCh38: 2:231276775-231276775
6 ARMC9 NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) SNV Pathogenic 427939 rs753432312 GRCh37: 2:232141350-232141350
GRCh38: 2:231276637-231276637
7 ARMC9 NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) SNV Pathogenic 427932 rs759799287 GRCh37: 2:232127019-232127019
GRCh38: 2:231262306-231262306
8 ARMC9 NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA Indel Pathogenic 427938 GRCh37: 2:232137234-232139754
GRCh38: 2:231272521-231275041
9 ARMC9 NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) SNV Pathogenic 427933 rs372770167 GRCh37: 2:232079625-232079625
GRCh38: 2:231214912-231214912
10 ARMC9 NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter) SNV Pathogenic 1034090 GRCh37: 2:232072888-232072888
GRCh38: 2:231208175-231208175
11 ARMC9 NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) SNV Likely pathogenic 522606 rs766572502 GRCh37: 2:232104754-232104754
GRCh38: 2:231240041-231240041
12 ARMC9 NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn) SNV Uncertain significance 636241 rs147777576 GRCh37: 2:232100039-232100039
GRCh38: 2:231235326-231235326
13 ARMC9 NM_001352754.2(ARMC9):c.-41-2521_177+2986del Deletion Uncertain significance 636278 GRCh37: 2:232068390-232075951
GRCh38: 2:231203677-231211238
14 ARMC9 NM_001352754.2(ARMC9):c.1213C>T (p.Arg405Cys) SNV Uncertain significance 1030903 GRCh37: 2:232137670-232137670
GRCh38: 2:231272957-231272957

Expression for Joubert Syndrome 30

Search GEO for disease gene expression data for Joubert Syndrome 30.

Pathways for Joubert Syndrome 30

GO Terms for Joubert Syndrome 30

Sources for Joubert Syndrome 30

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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