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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614465

Disease Ontology ¹² DOID:0110985

MedGen ⁴² C3280906

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 314407005 more

UMLS ⁷³ 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)

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.

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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

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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

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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

MalaCards organs/tissues related to Joubert Syndrome 16:

⁴¹

Kidney, Brain

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Publications for Joubert Syndrome 16

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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	PubmedIds
1	TMEM138	Transmembrane Protein 138	Protein Coding	1328.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22282472 20301500

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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

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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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