JBTS33
MCID: JBR045
MIFTS: 30

Joubert Syndrome 33 (JBTS33)

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

Aliases & Classifications for Joubert Syndrome 33

MalaCards integrated aliases for Joubert Syndrome 33:

Name: Joubert Syndrome 33 57 12 72 29 6 15
Jbts33 57 72
Joubert Syndrome, Type 33 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
joubert syndrome 33:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080279
OMIM® 57 617767
OMIM Phenotypic Series 57 PS213300

Summaries for Joubert Syndrome 33

UniProtKB/Swiss-Prot : 72 Joubert syndrome 33: A form of Joubert syndrome, 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, renal disease, liver fibrosis, and polydactyly. JBTS33 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 33, also known as jbts33, is related to asphyxiating thoracic dystrophy and fundus dystrophy. An important gene associated with Joubert Syndrome 33 is PIBF1 (Progesterone Immunomodulatory Binding Factor 1). Affiliated tissues include cerebellum, and related phenotypes are ataxia and global developmental delay

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21.

OMIM® : 57 Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (617767) (Updated 05-Apr-2021)

Related Diseases for Joubert Syndrome 33

Symptoms & Phenotypes for Joubert Syndrome 33

Human phenotypes related to Joubert Syndrome 33:

31
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 global developmental delay 31 HP:0001263
3 apnea 31 HP:0002104
4 molar tooth sign on mri 31 HP:0002419
5 oculomotor apraxia 31 HP:0000657

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
renal failure

Respiratory:
apneic episodes
irregular breathing
cyanotic episodes in infancy

Head And Neck Eyes:
oculomotor apraxia

Neurologic Central Nervous System:
molar tooth sign
deep interpeduncular fossa
developmental delay, mild to moderate
vermian hypoplasia
ataxia, axial
more

Clinical features from OMIM®:

617767 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Joubert Syndrome 33:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CELSR1 IFT27 PIBF1 TBX1
2 embryo MP:0005380 9.26 CELSR1 IFT27 PIBF1 TBX1
3 limbs/digits/tail MP:0005371 8.8 CELSR1 IFT27 TBX1

Drugs & Therapeutics for Joubert Syndrome 33

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 33

Genetic Tests for Joubert Syndrome 33

Genetic tests related to Joubert Syndrome 33:

# Genetic test Affiliating Genes
1 Joubert Syndrome 33 29 PIBF1

Anatomical Context for Joubert Syndrome 33

MalaCards organs/tissues related to Joubert Syndrome 33:

40
Cerebellum

Publications for Joubert Syndrome 33

Articles related to Joubert Syndrome 33:

# Title Authors PMID Year
1
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1. 57 6
30858804 2019
2
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. 57 6
29695797 2018
3
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 6 57
26167768 2015

Variations for Joubert Syndrome 33

ClinVar genetic disease variations for Joubert Syndrome 33:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIBF1 NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) SNV Pathogenic 446198 rs987735817 GRCh37: 13:73539488-73539488
GRCh38: 13:72965350-72965350
2 PIBF1 NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del Deletion Pathogenic 446200 GRCh37:
GRCh38:
3 PIBF1 NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) SNV Pathogenic 599034 rs539010725 GRCh37: 13:73468052-73468052
GRCh38: 13:72893914-72893914
4 PIBF1 NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) SNV Pathogenic 632607 rs911707459 GRCh37: 13:73539496-73539496
GRCh38: 13:72965358-72965358
5 PIBF1 NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup) Insertion Pathogenic 981932 GRCh37: 13:73409434-73409435
GRCh38: 13:72835296-72835297
6 PIBF1 NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) SNV Pathogenic 598934 rs144610914 GRCh37: 13:73482688-73482688
GRCh38: 13:72908550-72908550
7 PIBF1 NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs) Indel Pathogenic 996096 GRCh37: 13:73547735-73547737
GRCh38: 13:72973597-72973599
8 PIBF1 NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter) SNV Pathogenic 998208 GRCh37: 13:73409496-73409496
GRCh38: 13:72835358-72835358
9 PIBF1 NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) SNV Pathogenic 217689 rs17089782 GRCh37: 13:73409497-73409497
GRCh38: 13:72835359-72835359
10 PIBF1 NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter) SNV Pathogenic 807653 rs1594219498 GRCh37: 13:73505373-73505373
GRCh38: 13:72931235-72931235
11 PIBF1 NM_006346.4(PIBF1):c.33del (p.Lys11_Val12insTer) Deletion Pathogenic 1032434 GRCh37: 13:73357634-73357634
GRCh38: 13:72783496-72783496
12 PIBF1 NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) SNV Likely pathogenic 598934 rs144610914 GRCh37: 13:73482688-73482688
GRCh38: 13:72908550-72908550
13 PIBF1 NM_006346.4(PIBF1):c.1133A>C (p.His378Pro) SNV Likely pathogenic 807652 rs147863910 GRCh37: 13:73409416-73409416
GRCh38: 13:72835278-72835278
14 PIBF1 NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg) SNV Uncertain significance 770994 rs143644781 GRCh37: 13:73505365-73505365
GRCh38: 13:72931227-72931227
15 PIBF1 NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile) SNV Uncertain significance 1032433 GRCh37: 13:73573023-73573023
GRCh38: 13:72998885-72998885

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 33:

72
# Symbol AA change Variation ID SNP ID
1 PIBF1 p.Arg405Gln VAR_051280 rs17089782
2 PIBF1 p.Asp637Ala VAR_080441 rs987735817

Expression for Joubert Syndrome 33

Search GEO for disease gene expression data for Joubert Syndrome 33.

Pathways for Joubert Syndrome 33

GO Terms for Joubert Syndrome 33

Biological processes related to Joubert Syndrome 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 8.96 TBX1 CELSR1
2 inner ear morphogenesis GO:0042472 8.62 TBX1 CELSR1

Sources for Joubert Syndrome 33

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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