JBTS16
MCID: JBR027
MIFTS: 24

Joubert Syndrome 16 (JBTS16)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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:



External Ids:

Disease Ontology 12 DOID:0110985
OMIM® 57 614465
OMIM Phenotypic Series 57 PS213300
MedGen 41 C3280906
UMLS 70 C3280906

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.

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)

Drugs & Therapeutics for Joubert Syndrome 16

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 16

Genetic Tests for Joubert Syndrome 16

Genetic tests related to Joubert Syndrome 16:

# Genetic test Affiliating Genes
1 Joubert Syndrome 16 29 TMEM138

Anatomical Context for Joubert Syndrome 16

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
22282472 2012
2
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 6
26092869 2015

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

Expression for Joubert Syndrome 16

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

Pathways for Joubert Syndrome 16

GO Terms for Joubert Syndrome 16

Sources for Joubert Syndrome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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