MCID: JBR043
MIFTS: 18

Joubert Syndrome 32

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

Aliases & Classifications for Joubert Syndrome 32

MalaCards integrated aliases for Joubert Syndrome 32:

Name: Joubert Syndrome 32 57 12 75 29 6
Jbts32 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
four patients from 2 unrelated consanguineous families have been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617757
Disease Ontology 12 DOID:0080278

Summaries for Joubert Syndrome 32

UniProtKB/Swiss-Prot : 75 Joubert syndrome 32: 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. JBTS32 inheritance is autosomal recessive.

MalaCards based summary : Joubert Syndrome 32, is also known as jbts32. An important gene associated with Joubert Syndrome 32 is SUFU (SUFU Negative Regulator Of Hedgehog Signaling). Affiliated tissues include liver and brain.

OMIM : 57 JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (617757)

Symptoms & Phenotypes for Joubert Syndrome 32

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
tall stature

Head And Neck Head:
macrocephaly

Head And Neck Eyes:
hypertelorism
oculomotor apraxia
nystagmus (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (in 1 patient)

Skeletal Feet:
postaxial polydactyly

Neurologic Central Nervous System:
developmental delay
intellectual disability, mild
ataxia
dysarthria
cerebellar abnormalities
more
Growth Other:
macrosomia

Head And Neck Face:
frontal bossing

Head And Neck Nose:
depressed nasal bridge

Skeletal Hands:
postaxial polydactyly

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617757

Drugs & Therapeutics for Joubert Syndrome 32

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 32

Genetic Tests for Joubert Syndrome 32

Genetic tests related to Joubert Syndrome 32:

# Genetic test Affiliating Genes
1 Joubert Syndrome 32 29

Anatomical Context for Joubert Syndrome 32

MalaCards organs/tissues related to Joubert Syndrome 32:

41
Liver, Brain

Publications for Joubert Syndrome 32

Variations for Joubert Syndrome 32

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 32:

75
# Symbol AA change Variation ID SNP ID
1 SUFU p.His176Arg VAR_080421
2 SUFU p.Ile406Thr VAR_080426

ClinVar genetic disease variations for Joubert Syndrome 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SUFU NM_016169.3(SUFU): c.1217T> C (p.Ile406Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 104377106: 104377106
2 SUFU NM_016169.3(SUFU): c.1217T> C (p.Ile406Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 102617349: 102617349
3 SUFU NM_016169.3(SUFU): c.527A> G (p.His176Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 104352411: 104352411
4 SUFU NM_016169.3(SUFU): c.527A> G (p.His176Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 102592654: 102592654

Expression for Joubert Syndrome 32

Search GEO for disease gene expression data for Joubert Syndrome 32.

Pathways for Joubert Syndrome 32

GO Terms for Joubert Syndrome 32

Sources for Joubert Syndrome 32

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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