MCID: JBR045
MIFTS: 18

Joubert Syndrome 33

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

Aliases & Classifications for Joubert Syndrome 33

MalaCards integrated aliases for Joubert Syndrome 33:

Name: Joubert Syndrome 33 57 12 75 6
Jbts33 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617767
Disease Ontology 12 DOID:0080279

Summaries for Joubert Syndrome 33

UniProtKB/Swiss-Prot : 75 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, is also known as jbts33. An important gene associated with Joubert Syndrome 33 is PIBF1 (Progesterone Immunomodulatory Binding Factor 1). Affiliated tissues include liver, kidney and brain.

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)

Symptoms & Phenotypes for Joubert Syndrome 33

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
oculomotor apraxia

Neurologic Central Nervous System:
developmental delay, mild to moderate
ataxia, axial
ataxia, appendicular (in some patients)
molar tooth sign
vermian hypoplasia
more
Respiratory:
cyanotic episodes in infancy
irregular breathing
apneic episodes


Clinical features from OMIM:

617767

Drugs & Therapeutics for Joubert Syndrome 33

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 33

Genetic Tests for Joubert Syndrome 33

Anatomical Context for Joubert Syndrome 33

MalaCards organs/tissues related to Joubert Syndrome 33:

41
Liver, Kidney, Brain, Cerebellum

Publications for Joubert Syndrome 33

Variations for Joubert Syndrome 33

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

75
# Symbol AA change Variation ID SNP ID
1 PIBF1 p.Arg405Gln VAR_051280 rs17089782
2 PIBF1 p.Asp637Ala VAR_080441

ClinVar genetic disease variations for Joubert Syndrome 33:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIBF1 NM_006346.3(PIBF1): c.1214G> A (p.Arg405Gln) single nucleotide variant Likely pathogenic rs17089782 GRCh37 Chromosome 13, 73409497: 73409497
2 PIBF1 NM_006346.3(PIBF1): c.1214G> A (p.Arg405Gln) single nucleotide variant Likely pathogenic rs17089782 GRCh38 Chromosome 13, 72835359: 72835359
3 PIBF1 NM_006346.3(PIBF1): c.1910A> C (p.Asp637Ala) single nucleotide variant Pathogenic rs987735817 GRCh37 Chromosome 13, 73539488: 73539488
4 PIBF1 NM_006346.3(PIBF1): c.1910A> C (p.Asp637Ala) single nucleotide variant Pathogenic rs987735817 GRCh38 Chromosome 13, 72965350: 72965350
5 PIBF1 PIBF1, EX6-9 DEL deletion Pathogenic

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

Sources for Joubert Syndrome 33

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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