JBTS30
MCID: JBR040
MIFTS: 22

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 75 29 6
Jbts30 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
joubert syndrome 30:
Onset and clinical course congenital onset


Classifications:



Summaries for Joubert Syndrome 30

UniProtKB/Swiss-Prot : 75 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 liver, eye and brain, and related phenotypes are abnormality of eye movement and ptosis

Description from OMIM: 617622

Symptoms & Phenotypes for Joubert Syndrome 30

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
abnormal eye movements
retinal dystrophy (in some patients)

Respiratory:
apnea
tachypnea
breathing abnormalities

Skeletal Hands:
polydactyly, postaxial (in some patients)

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
speech delay
molar tooth sign on brain imaging
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617622

Human phenotypes related to Joubert Syndrome 30:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 HP:0000496
2 ptosis 32 HP:0000508
3 intellectual disability 32 HP:0001249
4 seizures 32 very rare (1%) HP:0001250
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 apnea 32 HP:0002104
8 tachypnea 32 HP:0002789
9 heterotopia 32 very rare (1%) HP:0002282
10 retinal dystrophy 32 very rare (1%) HP:0000556

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:

41
Liver, Eye, Brain

Publications for Joubert Syndrome 30

Variations for Joubert Syndrome 30

ClinVar genetic disease variations for Joubert Syndrome 30:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARMC9 NM_025139.5(ARMC9): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs750247691 GRCh37 Chromosome 2, 232079571: 232079571
2 ARMC9 NM_025139.5(ARMC9): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs750247691 GRCh38 Chromosome 2, 231214858: 231214858
3 ARMC9 NM_025139.5(ARMC9): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs372770167 GRCh37 Chromosome 2, 232079625: 232079625
4 ARMC9 NM_025139.5(ARMC9): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs372770167 GRCh38 Chromosome 2, 231214912: 231214912
5 ARMC9 NM_025139.5(ARMC9): c.1027C> A (p.Arg343Ser) single nucleotide variant Pathogenic rs759799287 GRCh37 Chromosome 2, 232127019: 232127019
6 ARMC9 NM_025139.5(ARMC9): c.1027C> A (p.Arg343Ser) single nucleotide variant Pathogenic rs759799287 GRCh38 Chromosome 2, 231262306: 231262306
7 ARMC9 NM_025139.5(ARMC9): c.1027C> T (p.Arg343Cys) single nucleotide variant Pathogenic rs759799287 GRCh37 Chromosome 2, 232127019: 232127019
8 ARMC9 NM_025139.5(ARMC9): c.1027C> T (p.Arg343Cys) single nucleotide variant Pathogenic rs759799287 GRCh38 Chromosome 2, 231262306: 231262306
9 ARMC9 NM_025139.5(ARMC9): c.1211_1334del124 (p.Arg405Alafs) deletion Pathogenic GRCh38 Chromosome 2, 231272955: 231273078
10 ARMC9 NM_025139.5(ARMC9): c.1211_1334del124 (p.Arg405Alafs) deletion Pathogenic GRCh37 Chromosome 2, 232137668: 232137791
11 ARMC9 NM_025139.5(ARMC9): c.1336C> T (p.Arg446Cys) single nucleotide variant Pathogenic rs753432312 GRCh38 Chromosome 2, 231276637: 231276637
12 ARMC9 NM_025139.5(ARMC9): c.1336C> T (p.Arg446Cys) single nucleotide variant Pathogenic rs753432312 GRCh37 Chromosome 2, 232141350: 232141350
13 ARMC9 NM_025139.5(ARMC9): c.1474G> A (p.Gly492Arg) single nucleotide variant Pathogenic rs780265931 GRCh37 Chromosome 2, 232141488: 232141488
14 ARMC9 NM_025139.5(ARMC9): c.1474G> A (p.Gly492Arg) single nucleotide variant Pathogenic rs780265931 GRCh38 Chromosome 2, 231276775: 231276775
15 ARMC9 NM_025139.5(ARMC9): c.1474+1G> C single nucleotide variant Pathogenic rs1114167448 GRCh37 Chromosome 2, 232141489: 232141489
16 ARMC9 NM_025139.5(ARMC9): c.1474+1G> C single nucleotide variant Pathogenic rs1114167448 GRCh38 Chromosome 2, 231276776: 231276776
17 ARMC9 NM_025139.5(ARMC9): c.1559C> T (p.Pro520Leu) single nucleotide variant Pathogenic rs1114167449 GRCh38 Chromosome 2, 231282066: 231282066
18 ARMC9 NM_025139.5(ARMC9): c.1559C> T (p.Pro520Leu) single nucleotide variant Pathogenic rs1114167449 GRCh37 Chromosome 2, 232146779: 232146779
19 ARMC9 NM_025139.5(ARMC9): c.879G> A (p.Thr293=) single nucleotide variant Likely pathogenic rs766572502 GRCh38 Chromosome 2, 231240041: 231240041
20 ARMC9 NM_025139.5(ARMC9): c.879G> A (p.Thr293=) single nucleotide variant Likely pathogenic rs766572502 GRCh37 Chromosome 2, 232104754: 232104754

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 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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