Joubert Syndrome 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 16

MalaCards integrated aliases for Joubert Syndrome 16:

Name: Joubert Syndrome 16 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Jbts16 ⁵⁷ ¹² ⁷²

Joubert Syndrome, Type 16 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

HPO:

³¹

joubert syndrome 16:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110985

OMIM® ⁵⁷ 614465

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C3280906

SNOMED-CT via HPO ⁶⁸ 14447001 193662007 194021007 more

UMLS ⁷⁰ C3280906

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Summaries for Joubert Syndrome 16

OMIM® : ⁵⁷ Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (608091) (summary by Lee et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. (614465) (Updated 05-Apr-2021)

MalaCards based summary : Joubert Syndrome 16, is also known as jbts16. An important gene associated with Joubert Syndrome 16 is TMEM138 (Transmembrane Protein 138). Related phenotypes are hypertelorism and dandy-walker malformation

Disease Ontology : ¹² A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has material basis in homozygous mutation in the TMEM138 gene on chromosome 11q.

UniProtKB/Swiss-Prot : ⁷² Joubert syndrome 16: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly.

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Related Diseases for Joubert Syndrome 16

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 16

Human phenotypes related to Joubert Syndrome 16:

³¹ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³¹	very rare (1%)	HP:0000316
2	dandy-walker malformation ³¹	very rare (1%)	HP:0001305
3	nephronophthisis ³¹	very rare (1%)	HP:0000090
4	encephalocele ³¹	very rare (1%)	HP:0002084
5	retinal dystrophy ³¹	very rare (1%)	HP:0000556
6	molar tooth sign on mri ³¹	very rare (1%)	HP:0002419
7	renal cyst ³¹	very rare (1%)	HP:0000107
8	oculomotor apraxia ³¹	very rare (1%)	HP:0000657
9	coloboma ³¹	very rare (1%)	HP:0000589
10	polydactyly ³¹	very rare (1%)	HP:0010442

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
oculomotor apraxia
coloboma
retinal dystrophy (variable)

Genitourinary Kidneys:
cystic kidneys (rare)
nephronophthisis (rare)

Neurologic Central Nervous System:
molar tooth sign
encephalocele (1 patient)
dandy-walker malformation (1 patient)

Skeletal Hands:
polydactyly (rare)

Clinical features from OMIM®:

614465 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Joubert Syndrome 16

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 16

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Genetic Tests for Joubert Syndrome 16

Genetic tests related to Joubert Syndrome 16:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 16 ²⁹	TMEM138

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Anatomical Context for Joubert Syndrome 16

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Publications for Joubert Syndrome 16

Articles related to Joubert Syndrome 16:

#	Title	Authors	PMID	Year
1	Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. ⁵⁷ ⁶	Lee JH...Gleeson JG	22282472	2012
2	Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ⁶	Bachmann-Gagescu R...Doherty D	26092869	2015

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Genes for Joubert Syndrome 16

Genes related to Joubert Syndrome 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMEM138	Transmembrane Protein 138	Protein Coding	1343.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	22282472

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Variations for Joubert Syndrome 16

ClinVar genetic disease variations for Joubert Syndrome 16:

⁶ (show all 42)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TMEM138	NM_016464.5(TMEM138):c.128+5G>A	SNV	Pathogenic	31187	rs917404097	GRCh37: 11:61131995-61131995 GRCh38: 11:61364523-61364523
2	TMEM138	NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)	SNV	Pathogenic	31189	rs387907133	GRCh37: 11:61136072-61136072 GRCh38: 11:61368600-61368600
3	TMEM138	NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)	SNV	Pathogenic	31190	rs387907134	GRCh37: 11:61135470-61135470 GRCh38: 11:61367998-61367998
4	TMEM138	NM_016464.5(TMEM138):c.377-3C>G	SNV	Pathogenic	917959		GRCh37: 11:61136066-61136066 GRCh38: 11:61368594-61368594
5	TMEM138	NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)	SNV	Pathogenic	1033414		GRCh37: 11:61136173-61136173 GRCh38: 11:61368701-61368701
6	TMEM138	NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	SNV	Likely pathogenic	31188	rs387907132	GRCh37: 11:61133675-61133675 GRCh38: 11:61366203-61366203
7	TMEM138	NM_016464.5(TMEM138):c.327C>T (p.Ser109=)	SNV	Conflicting interpretations of pathogenicity	305063	rs201318247	GRCh37: 11:61135421-61135421 GRCh38: 11:61367949-61367949
8	TMEM138	NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)	SNV	Uncertain significance	837999		GRCh37: 11:61136107-61136107 GRCh38: 11:61368635-61368635
9	TMEM138	NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)	SNV	Uncertain significance	877257		GRCh37: 11:61136155-61136155 GRCh38: 11:61368683-61368683
10	TMEM138	NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)	SNV	Uncertain significance	852535		GRCh37: 11:61136098-61136098 GRCh38: 11:61368626-61368626
11	TMEM138	NM_016464.5(TMEM138):c.*354C>G	SNV	Uncertain significance	877258		GRCh37: 11:61136535-61136535 GRCh38: 11:61369063-61369063
12	TMEM138	NM_016464.5(TMEM138):c.*547C>T	SNV	Uncertain significance	878301		GRCh37: 11:61136728-61136728 GRCh38: 11:61369256-61369256
13	TMEM138	NM_016464.5(TMEM138):c.*548G>A	SNV	Uncertain significance	878302		GRCh37: 11:61136729-61136729 GRCh38: 11:61369257-61369257
14	TMEM138	NM_016464.5(TMEM138):c.-55G>A	SNV	Uncertain significance	879682		GRCh37: 11:61131808-61131808 GRCh38: 11:61364336-61364336
15	TMEM138	NM_016464.5(TMEM138):c.-23G>A	SNV	Uncertain significance	879683		GRCh37: 11:61131840-61131840 GRCh38: 11:61364368-61364368
16	TMEM138	NM_016464.5(TMEM138):c.-17G>A	SNV	Uncertain significance	879684		GRCh37: 11:61131846-61131846 GRCh38: 11:61364374-61364374
17	TMEM138	NM_016464.5(TMEM138):c.216C>T (p.Asn72=)	SNV	Uncertain significance	260747	rs145939072	GRCh37: 11:61133604-61133604 GRCh38: 11:61366132-61366132
18	TMEM138	NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)	SNV	Uncertain significance	880046		GRCh37: 11:61133662-61133662 GRCh38: 11:61366190-61366190
19	TMEM138	NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser)	SNV	Uncertain significance	880047		GRCh37: 11:61136071-61136071 GRCh38: 11:61368599-61368599
20	TMEM138	NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	SNV	Uncertain significance	31191	rs387907135	GRCh37: 11:61136081-61136081 GRCh38: 11:61368609-61368609
21	TMEM138	NM_016464.5(TMEM138):c.-157C>G	SNV	Uncertain significance	305058	rs779029696	GRCh37: 11:61129875-61129875 GRCh38: 11:61362403-61362403
22	TMEM138	NM_016464.5(TMEM138):c.308G>A (p.Arg103His)	SNV	Uncertain significance	305062	rs781769843	GRCh37: 11:61135402-61135402 GRCh38: 11:61367930-61367930
23	TMEM138	NM_016464.5(TMEM138):c.*92G>C	SNV	Uncertain significance	305068	rs372997712	GRCh37: 11:61136273-61136273 GRCh38: 11:61368801-61368801
24	TMEM138	NM_016464.5(TMEM138):c.*407G>C	SNV	Uncertain significance	305071	rs886048410	GRCh37: 11:61136588-61136588 GRCh38: 11:61369116-61369116
25	TMEM138	NM_016464.5(TMEM138):c.-169C>T	SNV	Uncertain significance	305056	rs553390222	GRCh37: 11:61129863-61129863 GRCh38: 11:61362391-61362391
26	TMEM138	NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)	SNV	Uncertain significance	287964	rs200399046	GRCh37: 11:61133635-61133635 GRCh38: 11:61366163-61366163
27	TMEM138	NM_016464.5(TMEM138):c.-71G>A	SNV	Uncertain significance	305059	rs199532763	GRCh37: 11:61131792-61131792 GRCh38: 11:61364320-61364320
28	TMEM138	NM_016464.5(TMEM138):c.420A>G (p.Arg140=)	SNV	Uncertain significance	305066	rs548368196	GRCh37: 11:61136112-61136112 GRCh38: 11:61368640-61368640
29	TMEM138	NM_016464.5(TMEM138):c.*228C>G	SNV	Uncertain significance	305069	rs536120944	GRCh37: 11:61136409-61136409 GRCh38: 11:61368937-61368937
30	TMEM138	NM_016464.5(TMEM138):c.-164T>C	SNV	Uncertain significance	305057	rs886048407	GRCh37: 11:61129868-61129868 GRCh38: 11:61362396-61362396
31	TMEM138	NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)	SNV	Uncertain significance	305064	rs774141923	GRCh37: 11:61135446-61135446 GRCh38: 11:61367974-61367974
32	TMEM138	NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)	SNV	Uncertain significance	305067	rs569659022	GRCh37: 11:61136174-61136174 GRCh38: 11:61368702-61368702
33	TMEM138	NM_016464.5(TMEM138):c.*264C>G	SNV	Uncertain significance	305070	rs886048409	GRCh37: 11:61136445-61136445 GRCh38: 11:61368973-61368973
34	TMEM138	NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)	SNV	Uncertain significance	472885	rs763118625	GRCh37: 11:61133581-61133581 GRCh38: 11:61366109-61366109
35	TMEM138	NM_016464.5(TMEM138):c.461G>A (p.Arg154His)	SNV	Uncertain significance	570566	rs147966742	GRCh37: 11:61136153-61136153 GRCh38: 11:61368681-61368681
36	TMEM138	NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)	SNV	Uncertain significance	579554	rs1565076874	GRCh37: 11:61131918-61131918 GRCh38: 11:61364446-61364446
37	TMEM138	NM_016464.5(TMEM138):c.465G>A (p.Lys155=)	SNV	Uncertain significance	642950	rs141851191	GRCh37: 11:61136157-61136157 GRCh38: 11:61368685-61368685
38	TMEM138	NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)	SNV	Uncertain significance	437008	rs775913576	GRCh37: 11:61131936-61131936 GRCh38: 11:61364464-61364464
39	TMEM138	NM_016464.5(TMEM138):c.102T>A (p.Thr34=)	SNV	Likely benign	767006	rs139387935	GRCh37: 11:61131964-61131964 GRCh38: 11:61364492-61364492
40	TMEM138	NM_016464.5(TMEM138):c.387G>A (p.Leu129=)	SNV	Benign/Likely benign	305065	rs553815473	GRCh37: 11:61136079-61136079 GRCh38: 11:61368607-61368607
41	TMEM138	NM_016464.5(TMEM138):c.-24G>A	SNV	Benign	305060	rs116455434	GRCh37: 11:61131839-61131839 GRCh38: 11:61364367-61364367
42	TMEM138	NM_016464.5(TMEM138):c.261G>A (p.Val87=)	SNV	Benign	130586	rs35245221	GRCh37: 11:61133649-61133649 GRCh38: 11:61366177-61366177

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 16:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	TMEM138	p.His96Arg	VAR_067059	rs387907132
2	TMEM138	p.Ala126Thr	VAR_067060	rs387907134
3	TMEM138	p.Ala127Val	VAR_067061	rs387907133
4	TMEM138	p.Tyr130Cys	VAR_067062	rs387907135

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Expression for Joubert Syndrome 16

Search GEO for disease gene expression data for Joubert Syndrome 16.

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Pathways for Joubert Syndrome 16

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GO Terms for Joubert Syndrome 16

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Sources for Joubert Syndrome 16

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Joubert Syndrome 16 (JBTS16)

Aliases & Classifications for Joubert Syndrome 16

MalaCards integrated aliases for Joubert Syndrome 16:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 16

Related Diseases for Joubert Syndrome 16

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 16

Human phenotypes related to Joubert Syndrome 16:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Joubert Syndrome 16

Genetic Tests for Joubert Syndrome 16

Genetic tests related to Joubert Syndrome 16:

Anatomical Context for Joubert Syndrome 16

Publications for Joubert Syndrome 16

Articles related to Joubert Syndrome 16:

Genes for Joubert Syndrome 16

Genes related to Joubert Syndrome 16 (1 elite genes):

Variations for Joubert Syndrome 16

ClinVar genetic disease variations for Joubert Syndrome 16:

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 16:

Expression for Joubert Syndrome 16

Pathways for Joubert Syndrome 16

GO Terms for Joubert Syndrome 16

Sources for Joubert Syndrome 16