MCID: JBR039
MIFTS: 19

Joubert Syndrome 28

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

Aliases & Classifications for Joubert Syndrome 28

MalaCards integrated aliases for Joubert Syndrome 28:

Name: Joubert Syndrome 28 57 12 75 29 6
Jbts28 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated september 2016)


HPO:

32
joubert syndrome 28:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 28

UniProtKB/Swiss-Prot : 75 Joubert syndrome 28: 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. JBTS28 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 28, is also known as jbts28. An important gene associated with Joubert Syndrome 28 is MKS1 (Meckel Syndrome, Type 1). Affiliated tissues include liver, and related phenotypes are retinopathy and nystagmus

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.

Description from OMIM: 617121

Symptoms & Phenotypes for Joubert Syndrome 28

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculomotor apraxia
retinopathy (1 patient)

Neurologic Central Nervous System:
delayed development
intellectual disability (in 1 patient)
ataxia
molar tooth sign seen on mri

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617121

Human phenotypes related to Joubert Syndrome 28:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 retinopathy 32 occasional (7.5%) HP:0000488
2 nystagmus 32 HP:0000639
3 oculomotor apraxia 32 HP:0000657
4 intellectual disability 32 HP:0001249
5 ataxia 32 HP:0001251
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290

Drugs & Therapeutics for Joubert Syndrome 28

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 28

Genetic Tests for Joubert Syndrome 28

Genetic tests related to Joubert Syndrome 28:

# Genetic test Affiliating Genes
1 Joubert Syndrome 28 29 MKS1

Anatomical Context for Joubert Syndrome 28

MalaCards organs/tissues related to Joubert Syndrome 28:

41
Liver

Publications for Joubert Syndrome 28

Variations for Joubert Syndrome 28

ClinVar genetic disease variations for Joubert Syndrome 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
2 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic rs754279998 GRCh38 Chromosome 17, 58208153: 58208155
3 MKS1 NM_001165927.1(MKS1): c.1461-2A> G single nucleotide variant Pathogenic rs886038203 GRCh38 Chromosome 17, 58206382: 58206382
4 MKS1 NM_001165927.1(MKS1): c.1461-2A> G single nucleotide variant Pathogenic rs886038203 GRCh37 Chromosome 17, 56283743: 56283743
5 MKS1 NM_017777.3(MKS1): c.1588+1G> T single nucleotide variant Pathogenic rs886038204 GRCh38 Chromosome 17, 58206282: 58206282
6 MKS1 NM_017777.3(MKS1): c.1588+1G> T single nucleotide variant Pathogenic rs886038204 GRCh37 Chromosome 17, 56283643: 56283643
7 MKS1 NM_017777.3(MKS1): c.1394delC (p.Pro465Glnfs) deletion Likely pathogenic rs865870355 GRCh37 Chromosome 17, 56284459: 56284459
8 MKS1 NM_017777.3(MKS1): c.1394delC (p.Pro465Glnfs) deletion Likely pathogenic rs865870355 GRCh38 Chromosome 17, 58207098: 58207098
9 MKS1 NM_017777.3(MKS1): c.367dupC (p.Arg123Profs) duplication Likely pathogenic rs775043799 GRCh38 Chromosome 17, 58216138: 58216138
10 MKS1 NM_017777.3(MKS1): c.367dupC (p.Arg123Profs) duplication Likely pathogenic rs775043799 GRCh37 Chromosome 17, 56293499: 56293499

Expression for Joubert Syndrome 28

Search GEO for disease gene expression data for Joubert Syndrome 28.

Pathways for Joubert Syndrome 28

GO Terms for Joubert Syndrome 28

Sources for Joubert Syndrome 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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