Joubert Syndrome 28 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Mental diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617121

Disease Ontology ¹² DOID:0110997

MedGen ⁴² C4310705 CN238518

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 29555009 563001 more

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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

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Related Diseases for Joubert Syndrome 28

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35

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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

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Drugs & Therapeutics for Joubert Syndrome 28

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 28

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Genetic Tests for Joubert Syndrome 28

Genetic tests related to Joubert Syndrome 28:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 28 ²⁹	MKS1

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Anatomical Context for Joubert Syndrome 28

MalaCards organs/tissues related to Joubert Syndrome 28:

⁴¹

Liver, Eye

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Publications for Joubert Syndrome 28

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Genes for Joubert Syndrome 28

Genes related to Joubert Syndrome 28 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MKS1	Meckel Syndrome, Type 1	Protein Coding	1027.54	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24886560 20301500

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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

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Expression for Joubert Syndrome 28

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

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Pathways for Joubert Syndrome 28

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GO Terms for Joubert Syndrome 28

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Sources for Joubert Syndrome 28

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⁷⁶ Wikipedia

Joubert Syndrome 28 (JBTS28)

Aliases & Classifications for Joubert Syndrome 28

MalaCards integrated aliases for Joubert Syndrome 28:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 28

Related Diseases for Joubert Syndrome 28

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 28

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Joubert Syndrome 28:

Drugs & Therapeutics for Joubert Syndrome 28

Genetic Tests for Joubert Syndrome 28

Genetic tests related to Joubert Syndrome 28:

Anatomical Context for Joubert Syndrome 28

MalaCards organs/tissues related to Joubert Syndrome 28:

Publications for Joubert Syndrome 28

Genes for Joubert Syndrome 28

Genes related to Joubert Syndrome 28 (1 elite genes):

Variations for Joubert Syndrome 28

ClinVar genetic disease variations for Joubert Syndrome 28:

Expression for Joubert Syndrome 28

Pathways for Joubert Syndrome 28

GO Terms for Joubert Syndrome 28

Sources for Joubert Syndrome 28