MCID: JBR022
MIFTS: 19

Joubert Syndrome 20

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

Aliases & Classifications for Joubert Syndrome 20

MalaCards integrated aliases for Joubert Syndrome 20:

Name: Joubert Syndrome 20 57 12 75 29 13 6 73
Jbts20 57 12 75
Joubert Syndrome, Type 20 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families of french-canadian origin have been reported (last curated december 2012)


HPO:

32
joubert syndrome 20:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 20

UniProtKB/Swiss-Prot : 75 Joubert syndrome 20: 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 and renal disease.

MalaCards based summary : Joubert Syndrome 20, is also known as jbts20. An important gene associated with Joubert Syndrome 20 is TMEM231 (Transmembrane Protein 231). Related phenotypes are renal cyst and abnormal retinal morphology

Disease Ontology : 12 A Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.

Description from OMIM: 614970

Symptoms & Phenotypes for Joubert Syndrome 20

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
oculomotor apraxia
retinopathy (in some patients)

Neurologic Central Nervous System:
molar tooth sign seen on mri
delayed psychomotor development, severe
lack of speech
lack of independent ambulation

Respiratory:
breathing abnormalities

Skeletal Feet:
syndactyly (in some patients)
postaxial polydactyly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)

Genitourinary Kidneys:
renal cysts (in some patients)


Clinical features from OMIM:

614970

Human phenotypes related to Joubert Syndrome 20:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 frequent (33%) HP:0000107
2 abnormal retinal morphology 32 frequent (33%) HP:0000479
3 retinopathy 32 occasional (7.5%) HP:0000488
4 oculomotor apraxia 32 obligate (100%) HP:0000657
5 aggressive behavior 32 frequent (33%) HP:0000718
6 self-mutilation 32 frequent (33%) HP:0000742
7 syndactyly 32 occasional (7.5%) HP:0001159
8 global developmental delay 32 obligate (100%) HP:0001263
9 absent speech 32 obligate (100%) HP:0001344
10 respiratory insufficiency 32 obligate (100%) HP:0002093
11 molar tooth sign on mri 32 obligate (100%) HP:0002419
12 postaxial polydactyly 32 frequent (33%) HP:0100259

Drugs & Therapeutics for Joubert Syndrome 20

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 20

Genetic Tests for Joubert Syndrome 20

Genetic tests related to Joubert Syndrome 20:

# Genetic test Affiliating Genes
1 Joubert Syndrome 20 29 TMEM231

Anatomical Context for Joubert Syndrome 20

Publications for Joubert Syndrome 20

Variations for Joubert Syndrome 20

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 20:

75
# Symbol AA change Variation ID SNP ID
1 TMEM231 p.Asp209Asn VAR_069044 rs200799769

ClinVar genetic disease variations for Joubert Syndrome 20:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM231 NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys) single nucleotide variant Pathogenic rs397514609 GRCh37 Chromosome 16, 75590096: 75590096
2 TMEM231 NM_001077416.2(TMEM231): c.74T> A (p.Met25Lys) single nucleotide variant Pathogenic rs397514609 GRCh38 Chromosome 16, 75556198: 75556198
3 TMEM231 NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn) single nucleotide variant Pathogenic rs200799769 GRCh37 Chromosome 16, 75576539: 75576539
4 TMEM231 NM_001077416.2(TMEM231): c.784G> A (p.Asp262Asn) single nucleotide variant Pathogenic rs200799769 GRCh38 Chromosome 16, 75542641: 75542641
5 TMEM231 NM_001077418.2(TMEM231): c.891G> A (p.Val297=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh38 Chromosome 16, 75540054: 75540054
6 TMEM231 NM_001077418.2(TMEM231): c.891G> A (p.Val297=) single nucleotide variant Conflicting interpretations of pathogenicity rs149888762 GRCh37 Chromosome 16, 75573952: 75573952
7 TMEM231 NM_001077416.2(TMEM231): c.741+17T> A single nucleotide variant Benign rs2738801 GRCh38 Chromosome 16, 75545335: 75545335
8 TMEM231 NM_001077416.2(TMEM231): c.741+17T> A single nucleotide variant Benign rs2738801 GRCh37 Chromosome 16, 75579233: 75579233
9 TMEM231 NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly) single nucleotide variant Benign rs375353411 GRCh38 Chromosome 16, 75556001: 75556001
10 TMEM231 NM_001077416.2(TMEM231): c.271C> G (p.Arg91Gly) single nucleotide variant Benign rs375353411 GRCh37 Chromosome 16, 75589899: 75589899
11 TMEM231 NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu) single nucleotide variant Uncertain significance rs746025189 GRCh37 Chromosome 16, 75575291: 75575291
12 TMEM231 NM_001077416.2(TMEM231): c.886T> C (p.Phe296Leu) single nucleotide variant Uncertain significance rs746025189 GRCh38 Chromosome 16, 75541393: 75541393
13 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh37 Chromosome 16, 75589979: 75589979
14 TMEM231 NM_001077416.2(TMEM231): c.191C> T (p.Ser64Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs377440297 GRCh38 Chromosome 16, 75556081: 75556081
15 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh37 Chromosome 16, 75579334: 75579334
16 TMEM231 NM_001077416.2(TMEM231): c.657G> A (p.Pro219=) single nucleotide variant Benign/Likely benign rs201636741 GRCh38 Chromosome 16, 75545436: 75545436
17 TMEM231 NM_001077418.2(TMEM231): c.664+4A> G single nucleotide variant Pathogenic rs760426025 GRCh38 Chromosome 16, 75542598: 75542598
18 TMEM231 NM_001077418.2(TMEM231): c.664+4A> G single nucleotide variant Pathogenic rs760426025 GRCh37 Chromosome 16, 75576496: 75576496
19 TMEM231 NC_000016.10: g.(?_75539974)_(75542703_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75542703
20 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh38 Chromosome 16, 75539974: 75545515
21 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)del deletion Pathogenic GRCh37 Chromosome 16, 75573872: 75579413
22 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 75539974: 75545515
23 TMEM231 NC_000016.10: g.(?_75539974)_(75545515_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 75573872: 75579413
24 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh38 Chromosome 16, 75540017: 75540018
25 TMEM231 NM_001077416.2(TMEM231): c.1086_1087invCT (p.Asp362_Leu363delinsGluVal) inversion Likely benign GRCh37 Chromosome 16, 75573915: 75573916
26 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh37 Chromosome 16, 75590158: 75590158
27 TMEM231 NM_001077416.2(TMEM231): c.12G> A (p.Arg4=) single nucleotide variant Benign/Likely benign rs115739052 GRCh38 Chromosome 16, 75556260: 75556260
28 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh38 Chromosome 16, 75540147: 75540147
29 TMEM231 NM_001077416.2(TMEM231): c.957A> G (p.Val319=) single nucleotide variant Likely benign rs772364535 GRCh37 Chromosome 16, 75574045: 75574045
30 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh37 Chromosome 16, 75579362: 75579362
31 TMEM231 NM_001077416.2(TMEM231): c.629C> T (p.Ala210Val) single nucleotide variant Likely benign rs201036290 GRCh38 Chromosome 16, 75545464: 75545464
32 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh38 Chromosome 16, 75542693: 75542693
33 TMEM231 NM_001077416.2(TMEM231): c.742-10C> T single nucleotide variant Likely benign rs774265542 GRCh37 Chromosome 16, 75576591: 75576591

Expression for Joubert Syndrome 20

Search GEO for disease gene expression data for Joubert Syndrome 20.

Pathways for Joubert Syndrome 20

GO Terms for Joubert Syndrome 20

Sources for Joubert Syndrome 20

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17 ExPASy
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