MCID: JBR040
MIFTS: 18

Joubert Syndrome 30

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

Aliases & Classifications for Joubert Syndrome 30

MalaCards integrated aliases for Joubert Syndrome 30:

Name: Joubert Syndrome 30 57 12 75 6
Jbts30 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617622
Disease Ontology 12 DOID:0080275

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, brain and eye.

Description from OMIM: 617622

Symptoms & Phenotypes for Joubert Syndrome 30

Symptoms via clinical synopsis from OMIM:

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

Skeletal Hands:
polydactyly, postaxial (in some patients)

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

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617622

Drugs & Therapeutics for Joubert Syndrome 30

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 30

Genetic Tests for Joubert Syndrome 30

Anatomical Context for Joubert Syndrome 30

MalaCards organs/tissues related to Joubert Syndrome 30:

41
Liver, Brain, Eye

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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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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