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

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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 Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological 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 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

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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

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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)

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

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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

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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	1027.71	Molecular basis known ⁵⁷ 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

#	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

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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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