MCID: JBR027
MIFTS: 21

Joubert Syndrome 16

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Joubert Syndrome 16

MalaCards integrated aliases for Joubert Syndrome 16:

Name: Joubert Syndrome 16 57 12 75 29 13 6 73
Jbts16 57 12 75
Joubert Syndrome, Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
joubert syndrome 16:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Joubert Syndrome 16, is also known as jbts16. An important gene associated with Joubert Syndrome 16 is TMEM138 (Transmembrane Protein 138). Affiliated tissues include kidney and brain, and related phenotypes are nephronophthisis 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
oculomotor apraxia
retinal dystrophy (variable)
coloboma

Skeletal Hands:
polydactyly (rare)

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

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


Clinical features from OMIM:

614465

Human phenotypes related to Joubert Syndrome 16:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 occasional (7.5%) HP:0000090
2 dandy-walker malformation 32 occasional (7.5%) HP:0001305
3 encephalocele 32 occasional (7.5%) HP:0002084
4 oculomotor apraxia 32 HP:0000657
5 renal cyst 32 occasional (7.5%) HP:0000107
6 retinal dystrophy 32 frequent (33%) HP:0000556
7 molar tooth sign on mri 32 HP:0002419
8 coloboma 32 HP:0000589
9 polydactyly 32 occasional (7.5%) HP:0010442

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

MalaCards organs/tissues related to Joubert Syndrome 16:

41
Kidney, Brain

Publications for Joubert Syndrome 16

Variations for Joubert Syndrome 16

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

75
# 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

ClinVar genetic disease variations for Joubert Syndrome 16:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM138 TMEM138, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
2 TMEM138 NM_016464.4(TMEM138): c.287A> G (p.His96Arg) single nucleotide variant Likely pathogenic rs387907132 GRCh37 Chromosome 11, 61133675: 61133675
3 TMEM138 NM_016464.4(TMEM138): c.287A> G (p.His96Arg) single nucleotide variant Likely pathogenic rs387907132 GRCh38 Chromosome 11, 61366203: 61366203
4 TMEM138 NM_016464.4(TMEM138): c.380C> T (p.Ala127Val) single nucleotide variant Pathogenic rs387907133 GRCh37 Chromosome 11, 61136072: 61136072
5 TMEM138 NM_016464.4(TMEM138): c.380C> T (p.Ala127Val) single nucleotide variant Pathogenic rs387907133 GRCh38 Chromosome 11, 61368600: 61368600
6 TMEM138 NM_016464.4(TMEM138): c.376G> A (p.Ala126Thr) single nucleotide variant Pathogenic rs387907134 GRCh37 Chromosome 11, 61135470: 61135470
7 TMEM138 NM_016464.4(TMEM138): c.376G> A (p.Ala126Thr) single nucleotide variant Pathogenic rs387907134 GRCh38 Chromosome 11, 61367998: 61367998
8 TMEM138 NM_016464.4(TMEM138): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs387907135 GRCh37 Chromosome 11, 61136081: 61136081
9 TMEM138 NM_016464.4(TMEM138): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs387907135 GRCh38 Chromosome 11, 61368609: 61368609
10 TMEM138 NM_016464.4(TMEM138): c.193G> A (p.Val65Ile) single nucleotide variant Uncertain significance rs763118625 GRCh37 Chromosome 11, 61133581: 61133581
11 TMEM138 NM_016464.4(TMEM138): c.193G> A (p.Val65Ile) single nucleotide variant Uncertain significance rs763118625 GRCh38 Chromosome 11, 61366109: 61366109

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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