JBTS28
MCID: JBR039
MIFTS: 21

Joubert Syndrome 28 (JBTS28)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 eye, and related phenotypes are nystagmus and intellectual disability

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)

Muscle Soft Tissue:
hypotonia

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


Clinical features from OMIM:

617121

Human phenotypes related to Joubert Syndrome 28:

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

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, Eye

Publications for Joubert Syndrome 28

Variations for Joubert Syndrome 28

ClinVar genetic disease variations for Joubert Syndrome 28:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
2 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh38 Chromosome 17, 58219149: 58219149
3 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
4 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh38 Chromosome 17, 58210658: 58210658
5 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh37 Chromosome 17, 56293449: 56293449
6 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh38 Chromosome 17, 58216088: 58216088
7 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
8 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
9 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
10 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh38 Chromosome 17, 58218620: 58218626
11 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
12 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh38 Chromosome 17, 58214740: 58214740
13 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
14 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh38 Chromosome 17, 58219176: 58219180
15 MKS1 NM_017777.3(MKS1): c.110A> G (p.Asn37Ser) single nucleotide variant Uncertain significance rs587779734 GRCh37 Chromosome 17, 56296061: 56296061
16 MKS1 NM_017777.3(MKS1): c.110A> G (p.Asn37Ser) single nucleotide variant Uncertain significance rs587779734 GRCh38 Chromosome 17, 58218700: 58218700
17 MKS1 NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys) single nucleotide variant Uncertain significance rs730882120 GRCh38 Chromosome 17, 58207110: 58207110
18 MKS1 NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys) single nucleotide variant Uncertain significance rs730882120 GRCh37 Chromosome 17, 56284471: 56284471
19 MKS1 NM_017777.3(MKS1): c.1408-34_1408-6del29 deletion Conflicting interpretations of pathogenicity rs386834043 GRCh37 Chromosome 17, 56283914: 56283942
20 MKS1 NM_017777.3(MKS1): c.1408-34_1408-6del29 deletion Conflicting interpretations of pathogenicity rs386834043 GRCh38 Chromosome 17, 58206553: 58206581
21 MKS1 NM_017777.3(MKS1): c.233T> G (p.Ile78Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs786204222 GRCh37 Chromosome 17, 56294055: 56294055
22 MKS1 NM_017777.3(MKS1): c.233T> G (p.Ile78Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs786204222 GRCh38 Chromosome 17, 58216694: 58216694
23 MKS1 NM_017777.3(MKS1): c.1025-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs794727070 GRCh37 Chromosome 17, 56285946: 56285946
24 MKS1 NM_017777.3(MKS1): c.1025-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs794727070 GRCh38 Chromosome 17, 58208585: 58208585
25 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045706 GRCh37 Chromosome 17, 56290357: 56290357
26 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045706 GRCh38 Chromosome 17, 58212996: 58212996
27 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
28 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh38 Chromosome 17, 58208153: 58208155
29 MKS1 NM_017777.3(MKS1): c.493C> T (p.Arg165Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779953982 GRCh37 Chromosome 17, 56292124: 56292124
30 MKS1 NM_017777.3(MKS1): c.493C> T (p.Arg165Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs779953982 GRCh38 Chromosome 17, 58214763: 58214763
31 MKS1 NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys) single nucleotide variant Uncertain significance rs35464956 GRCh37 Chromosome 17, 56283511: 56283511
32 MKS1 NM_017777.3(MKS1): c.1609C> T (p.Arg537Cys) single nucleotide variant Uncertain significance rs35464956 GRCh38 Chromosome 17, 58206150: 58206150
33 MKS1 NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu) single nucleotide variant Uncertain significance rs763534380 GRCh38 Chromosome 17, 58207992: 58207992
34 MKS1 NM_017777.3(MKS1): c.1175C> T (p.Pro392Leu) single nucleotide variant Uncertain significance rs763534380 GRCh37 Chromosome 17, 56285353: 56285353
35 MKS1 NM_017777.3(MKS1): c.508C> T (p.Arg170Ter) single nucleotide variant Likely pathogenic rs756853299 GRCh37 Chromosome 17, 56292109: 56292109
36 MKS1 NM_017777.3(MKS1): c.508C> T (p.Arg170Ter) single nucleotide variant Likely pathogenic rs756853299 GRCh38 Chromosome 17, 58214748: 58214748
37 MKS1 NM_001165927.1(MKS1): c.1461-2A> G single nucleotide variant Pathogenic rs886038203 GRCh38 Chromosome 17, 58206382: 58206382
38 MKS1 NM_001165927.1(MKS1): c.1461-2A> G single nucleotide variant Pathogenic rs886038203 GRCh37 Chromosome 17, 56283743: 56283743
39 MKS1 NM_017777.3(MKS1): c.1588+1G> T single nucleotide variant Pathogenic rs886038204 GRCh38 Chromosome 17, 58206282: 58206282
40 MKS1 NM_017777.3(MKS1): c.1588+1G> T single nucleotide variant Pathogenic rs886038204 GRCh37 Chromosome 17, 56283643: 56283643
41 MKS1 NM_017777.3(MKS1): c.1600C> A (p.Arg534=) single nucleotide variant Likely benign rs772719574 GRCh37 Chromosome 17, 56283520: 56283520
42 MKS1 NM_017777.3(MKS1): c.1600C> A (p.Arg534=) single nucleotide variant Likely benign rs772719574 GRCh38 Chromosome 17, 58206159: 58206159
43 MKS1 NM_017777.3(MKS1): c.1588+12C> G single nucleotide variant Likely benign rs762501967 GRCh37 Chromosome 17, 56283632: 56283632
44 MKS1 NM_017777.3(MKS1): c.1588+12C> G single nucleotide variant Likely benign rs762501967 GRCh38 Chromosome 17, 58206271: 58206271
45 MKS1 NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745809472 GRCh37 Chromosome 17, 56285906: 56285906
46 MKS1 NM_017777.3(MKS1): c.1063A> G (p.Thr355Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745809472 GRCh38 Chromosome 17, 58208545: 58208545
47 MKS1 NM_017777.3(MKS1): c.771G> A (p.Lys257=) single nucleotide variant Likely benign rs886038632 GRCh37 Chromosome 17, 56290430: 56290430
48 MKS1 NM_017777.3(MKS1): c.771G> A (p.Lys257=) single nucleotide variant Likely benign rs886038632 GRCh38 Chromosome 17, 58213069: 58213069
49 MKS1 NM_017777.3(MKS1): c.80+14C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761061379 GRCh38 Chromosome 17, 58219137: 58219137
50 MKS1 NM_017777.3(MKS1): c.80+14C> G single nucleotide variant Conflicting interpretations of pathogenicity rs761061379 GRCh37 Chromosome 17, 56296498: 56296498

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

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