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

JBTS28 MCID: JBR039 MIFTS: 26	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 Publications 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 ⁷² ²⁹ ⁶

Jbts28 ⁵⁷ ¹² ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

joubert syndrome 28:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset fetal onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110997

OMIM® ⁵⁷ 617121

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C4310705 CN238518

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Summaries for Joubert Syndrome 28

UniProtKB/Swiss-Prot : ⁷² 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 (MKS Transition Zone Complex Subunit 1). Related phenotypes are nystagmus and ataxia

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

More information from OMIM: 617121 PS213300

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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	Joubert Syndrome 36
Joubert Syndrome 37

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Symptoms & Phenotypes for Joubert Syndrome 28

Human phenotypes related to Joubert Syndrome 28:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	very rare (1%)	HP:0000639
2	ataxia ³¹	very rare (1%)	HP:0001251
3	global developmental delay ³¹	very rare (1%)	HP:0001263
4	hypertelorism ³¹	very rare (1%)	HP:0000316
5	wide nasal bridge ³¹	very rare (1%)	HP:0000431
6	delayed speech and language development ³¹	very rare (1%)	HP:0000750
7	strabismus ³¹	very rare (1%)	HP:0000486
8	joint laxity ³¹	very rare (1%)	HP:0001388
9	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
10	broad forehead ³¹	very rare (1%)	HP:0000337
11	optic disc pallor ³¹	very rare (1%)	HP:0000543
12	molar tooth sign on mri ³¹	very rare (1%)	HP:0002419
13	oculomotor apraxia ³¹	very rare (1%)	HP:0000657
14	pigmentary retinopathy ³¹	very rare (1%)	HP:0000580
15	generalized hypotonia ³¹	very rare (1%)	HP:0001290
16	lower limb hyperreflexia ³¹	very rare (1%)	HP:0002395
17	intellectual disability ³¹		HP:0001249
18	dysarthria ³¹		HP:0001260

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

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Publications for Joubert Syndrome 28

Articles related to Joubert Syndrome 28:

#	Title	Authors	PMID	Year
1	Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. ⁵⁷ ⁶	Romani M...Valente EM	24886560	2014
2	Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. ⁶	Irfanullah...Ahmad W	27570071	2016
3	MKS1 regulates ciliary INPP5E levels in Joubert syndrome. ⁶	Slaats GG...Doherty D	26490104	2016
4	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁶	Bachmann-Gagescu R...Doherty D	26092869	2015
5	Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. ⁶	Szymanska K...Johnson CA	23351400	2012
6	Carrier testing for severe childhood recessive diseases by next-generation sequencing. ⁶	Bell CJ...Kingsmore SF	21228398	2011
7	Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. ⁶	Frank V...Bergmann C	17437276	2007
8	Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ⁶	Consugar MB...Harris PC	17377820	2007
9	Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. ⁶	Khaddour R...SOFFOET (Societe Francaise de Foetopathologie)	17397051	2007
10	MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. ⁶	Kyttala M...Kestila M	16415886	2006

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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	PubMed IDs
1	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	1043.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24886560

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Variations for Joubert Syndrome 28

ClinVar genetic disease variations for Joubert Syndrome 28:

⁶ (show top 50) (show all 56)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MKS1	NM_001165927.1(MKS1):c.1558+1G>T	SNV	Pathogenic	254677	rs886038204	GRCh37: 17:56283643-56283643 GRCh38: 17:58206282-58206282
2	MKS1	NM_001165927.1(MKS1):c.1461-2A>G	SNV	Pathogenic	254675	rs886038203	GRCh37: 17:56283743-56283743 GRCh38: 17:58206382-58206382
3	MKS1	NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)	Deletion	Pathogenic	217677	rs754279998	GRCh37: 17:56285514-56285516 GRCh38: 17:58208153-58208155
4	MKS1	NM_001165927.1(MKS1):c.1378-34_1378-6del	Deletion	Pathogenic	188400	rs386834043	GRCh37: 17:56283914-56283942 GRCh38: 17:58206553-58206581
5	MKS1	NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs)	Duplication	Likely pathogenic	56617	rs386834044	GRCh37: 17:56283862-56283863 GRCh38: 17:58206501-58206502
6	MKS1	NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)	Deletion	Likely pathogenic	217677	rs754279998	GRCh37: 17:56285514-56285516 GRCh38: 17:58208153-58208155
7	MKS1	NM_001165927.1(MKS1):c.994+1G>A	SNV	Likely pathogenic	1391	rs199874059	GRCh37: 17:56288019-56288019 GRCh38: 17:58210658-58210658
8	MKS1	NM_001165927.1(MKS1):c.995-2A>C	SNV	Likely pathogenic	194102	rs794727070	GRCh37: 17:56285946-56285946 GRCh38: 17:58208585-58208585
9	MKS1	NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs)	Deletion	Likely pathogenic	557671	rs1555596845	GRCh37: 17:56283854-56283882 GRCh38: 17:58206493-58206521
10	MKS1	NM_001165927.1(MKS1):c.154_160del (p.Thr52fs)	Deletion	Likely pathogenic	56619	rs386834046	GRCh37: 17:56295981-56295987 GRCh38: 17:58218620-58218626
11	MKS1	NM_001165927.1(MKS1):c.50+232A>G	SNV	Likely pathogenic	558654	rs1555601787	GRCh37: 17:56296591-56296591 GRCh38: 17:58219230-58219230
12	MKS1	NM_001165927.1(MKS1):c.337dup (p.Arg113fs)	Duplication	Likely pathogenic	371770	rs775043799	GRCh37: 17:56293498-56293499 GRCh38: 17:58216137-58216138
13	MKS1	NM_001165927.1(MKS1):c.1364del (p.Pro455fs)	Deletion	Likely pathogenic	371771	rs865870355	GRCh37: 17:56284459-56284459 GRCh38: 17:58207098-58207098
14	MKS1	NM_001165927.1(MKS1):c.50+313T>C	SNV	Likely pathogenic	1390	rs386834052	GRCh37: 17:56296510-56296510 GRCh38: 17:58219149-58219149
15	MKS1	NM_001165927.1(MKS1):c.160+2T>C	SNV	Likely pathogenic	550954	rs375170572	GRCh37: 17:56295979-56295979 GRCh38: 17:58218618-58218618
16	MKS1	NM_017777.4(MKS1):c.417G>A (p.Glu139=)	SNV	Likely pathogenic	1392	rs386834048	GRCh37: 17:56293449-56293449 GRCh38: 17:58216088-58216088
17	MKS1	NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter)	SNV	Likely pathogenic	235405	rs756853299	GRCh37: 17:56292109-56292109 GRCh38: 17:58214748-58214748
18	MKS1	NM_001165927.1(MKS1):c.485+2T>G	SNV	Likely pathogenic	553842	rs1376664664	GRCh37: 17:56292100-56292100 GRCh38: 17:58214739-58214739
19	MKS1	NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter)	SNV	Likely pathogenic	554581	rs1555599412	GRCh37: 17:56290372-56290372 GRCh38: 17:58213011-58213011
20	MKS1	NM_001165927.1(MKS1):c.485+1G>A	SNV	Likely pathogenic	56624	rs201933838	GRCh37: 17:56292101-56292101 GRCh38: 17:58214740-58214740
21	MKS1	NM_001165927.1(MKS1):c.828+1G>A	SNV	Likely pathogenic	556312	rs756102768	GRCh37: 17:56290342-56290342 GRCh38: 17:58212981-58212981
22	MKS1	NM_001165927.1(MKS1):c.1378-2A>G	SNV	Likely pathogenic	556614	rs1555596943	GRCh37: 17:56283910-56283910 GRCh38: 17:58206549-58206549
23	MKS1	NM_001165927.1(MKS1):c.50+282_50+286dup	Duplication	Likely pathogenic	56625	rs386834051	GRCh37: 17:56296536-56296537 GRCh38: 17:58219175-58219176
24	MKS1	NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter)	SNV	Likely pathogenic	211503	rs797045706	GRCh37: 17:56290357-56290357 GRCh38: 17:58212996-58212996
25	MKS1	NM_001165927.1(MKS1):c.1136-2A>G	SNV	Likely pathogenic	556907	rs1488635637	GRCh37: 17:56285364-56285364 GRCh38: 17:58208003-58208003
26	MKS1	NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser)	SNV	Uncertain significance	126271	rs587779734	GRCh37: 17:56296061-56296061 GRCh38: 17:58218700-58218700
27	MKS1	NM_001165927.1(MKS1):c.1467del (p.Phe489fs)	Deletion	Uncertain significance	555641	rs780161503	GRCh37: 17:56283735-56283735 GRCh38: 17:58206374-58206374
28	MKS1	NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup)	Microsatellite	Uncertain significance	555649	rs780100856	GRCh37: 17:56290366-56290367 GRCh38: 17:58213005-58213006
29	MKS1	NM_001165927.1(MKS1):c.1584del (p.Met529fs)	Deletion	Uncertain significance	554941	rs1555596555	GRCh37: 17:56283506-56283506 GRCh38: 17:58206145-58206145
30	MKS1	NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT	Indel	Uncertain significance	555057	rs1555597194	GRCh37: 17:56284441-56284443 GRCh38: 17:58207080-58207082
31	MKS1	NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter)	SNV	Uncertain significance	554287	rs772719574	GRCh37: 17:56283520-56283520 GRCh38: 17:58206159-58206159
32	MKS1	NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys)	SNV	Uncertain significance	324168	rs753620277	GRCh37: 17:56294074-56294074 GRCh38: 17:58216713-58216713
33	MKS1	NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del)	Microsatellite	Uncertain significance	551726	rs1555598065	GRCh37: 17:56285888-56285890 GRCh38: 17:58208527-58208529
34	MKS1	NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs)	Deletion	Uncertain significance	551955	rs1555596710	GRCh37: 17:56283698-56283701 GRCh38: 17:58206337-58206340
35	MKS1	NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal)	Deletion	Uncertain significance	552912	rs1555597266	GRCh37: 17:56284508-56284522 GRCh38: 17:58207147-58207161
36	MKS1	NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter)	SNV	Uncertain significance	551006	rs1555596538	GRCh37: 17:56283499-56283499 GRCh38: 17:58206138-58206138
37	MKS1	NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)	SNV	Uncertain significance	1393	rs137853105	GRCh37: 17:56283840-56283840 GRCh38: 17:58206479-58206479
38	MKS1	NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu)	SNV	Uncertain significance	219658	rs763534380	GRCh37: 17:56285353-56285353 GRCh38: 17:58207992-58207992
39	MKS1	NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys)	SNV	Uncertain significance	324158	rs775558298	GRCh37: 17:56283689-56283689 GRCh38: 17:58206328-58206328
40	MKS1	NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser)	SNV	Uncertain significance	188334	rs786204222	GRCh37: 17:56294055-56294055 GRCh38: 17:58216694-58216694
41	MKS1	NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys)	SNV	Uncertain significance	220047	rs35464956	GRCh37: 17:56283511-56283511 GRCh38: 17:58206150-58206150
42	MKS1	NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala)	SNV	Uncertain significance	260879	rs745809472	GRCh37: 17:56285906-56285906 GRCh38: 17:58208545-58208545
43	MKS1	NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)	SNV	Uncertain significance	217682	rs779953982	GRCh37: 17:56292124-56292124 GRCh38: 17:58214763-58214763
44	MKS1	NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile)	SNV	Uncertain significance	558281	rs760184188	GRCh37: 17:56285260-56285260 GRCh38: 17:58207899-58207899
45	MKS1	NM_001165927.1(MKS1):c.50+198_50+220del	Deletion	Uncertain significance	557821	rs1244307754	GRCh37: 17:56296603-56296625 GRCh38: 17:58219242-58219264
46	MKS1	NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del)	Deletion	Uncertain significance	556256	rs1555597302	GRCh37: 17:56284539-56284565 GRCh38: 17:58207178-58207204
47	MKS1	NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys)	SNV	Uncertain significance	183011	rs730882120	GRCh37: 17:56284471-56284471 GRCh38: 17:58207110-58207110
48	MKS1	NM_001165927.1(MKS1):c.514G>A (p.Val172Ile)	SNV	Uncertain significance	241188	rs200185068	GRCh37: 17:56291720-56291720 GRCh38: 17:58214359-58214359
49	MKS1	NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln)	SNV	Uncertain significance	235814	rs202112856	GRCh37: 17:56293498-56293498 GRCh38: 17:58216137-58216137
50	MKS1	NM_001165927.1(MKS1):c.88C>T (p.His30Tyr)	SNV	Uncertain significance	281544	rs199832333	GRCh37: 17:56296053-56296053 GRCh38: 17:58218692-58218692

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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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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

Human phenotypes related to Joubert Syndrome 28:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Publications for Joubert Syndrome 28

Articles related to 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