JBTS32
MCID: JBR043
MIFTS: 23

Joubert Syndrome 32 (JBTS32)

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

Aliases & Classifications for Joubert Syndrome 32

MalaCards integrated aliases for Joubert Syndrome 32:

Name: Joubert Syndrome 32 57 12 72 29 6
Jbts32 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
joubert syndrome 32:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Joubert Syndrome 32

UniProtKB/Swiss-Prot : 72 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 cerebellum, and related phenotypes are nystagmus and polymicrogyria

Disease Ontology : 12 A Joubert syndrome that has material basis in homozygous mutation in the SUFU gene on chromosome 10q24.

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) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Joubert Syndrome 32

Human phenotypes related to Joubert Syndrome 32:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 polymicrogyria 31 very rare (1%) HP:0002126
3 macrocephaly 31 HP:0000256
4 frontal bossing 31 HP:0002007
5 ataxia 31 HP:0001251
6 dysarthria 31 HP:0001260
7 global developmental delay 31 HP:0001263
8 depressed nasal bridge 31 HP:0005280
9 hypertelorism 31 HP:0000316
10 intellectual disability, mild 31 HP:0001256
11 hypertrophic cardiomyopathy 31 HP:0001639
12 tall stature 31 HP:0000098
13 abnormal cerebellum morphology 31 HP:0001317
14 large for gestational age 31 HP:0001520
15 molar tooth sign on mri 31 HP:0002419
16 oculomotor apraxia 31 HP:0000657
17 generalized hypotonia 31 HP:0001290
18 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
ataxia
dysarthria
intellectual disability, mild
developmental delay
molar tooth sign
more
Head And Neck Eyes:
hypertelorism
oculomotor apraxia
nystagmus (in some patients)

Skeletal Hands:
postaxial polydactyly

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
hypertrophic cardiomyopathy (in 1 patient)

Head And Neck Face:
frontal bossing

Head And Neck Nose:
depressed nasal bridge

Growth Height:
tall stature

Skeletal Feet:
postaxial polydactyly

Growth Other:
macrosomia

Clinical features from OMIM®:

617757 (Updated 05-Apr-2021)

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 SUFU

Anatomical Context for Joubert Syndrome 32

MalaCards organs/tissues related to Joubert Syndrome 32:

40
Cerebellum

Publications for Joubert Syndrome 32

Articles related to Joubert Syndrome 32:

# Title Authors PMID Year
1
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 57 6
28965847 2017

Variations for Joubert Syndrome 32

ClinVar genetic disease variations for Joubert Syndrome 32:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SUFU NM_016169.3(SUFU):c.527A>G (p.His176Arg) SNV Pathogenic 446157 rs1554852272 GRCh37: 10:104352411-104352411
GRCh38: 10:102592654-102592654
2 SUFU NM_016169.3(SUFU):c.1217T>C (p.Ile406Thr) SNV Pathogenic 446156 rs1554854758 GRCh37: 10:104377106-104377106
GRCh38: 10:102617349-102617349
3 SUFU NM_016169.3(SUFU):c.275G>C (p.Ser92Thr) SNV Uncertain significance 406392 rs746322193 GRCh37: 10:104269018-104269018
GRCh38: 10:102509261-102509261
4 SUFU NM_016169.3(SUFU):c.750C>A (p.His250Gln) SNV Uncertain significance 453977 rs1235137905 GRCh37: 10:104353816-104353816
GRCh38: 10:102594059-102594059
5 SUFU NM_016169.3(SUFU):c.1028G>A (p.Arg343His) SNV Uncertain significance 135285 rs79299301 GRCh37: 10:104375030-104375030
GRCh38: 10:102615273-102615273
6 SUFU NM_016169.3(SUFU):c.325G>A (p.Gly109Arg) SNV Uncertain significance 638517 rs192025919 GRCh37: 10:104309734-104309734
GRCh38: 10:102549977-102549977
7 SUFU NM_016169.3(SUFU):c.1045A>G (p.Ser349Gly) SNV Uncertain significance 135283 rs368178771 GRCh37: 10:104375047-104375047
GRCh38: 10:102615290-102615290
8 SUFU NM_016169.3(SUFU):c.43C>A (p.Pro15Thr) SNV Uncertain significance 453965 rs761921681 GRCh37: 10:104263952-104263952
GRCh38: 10:102504195-102504195
9 SUFU NM_016169.3(SUFU):c.1232C>T (p.Thr411Met) SNV Uncertain significance 486528 rs368020224 GRCh37: 10:104377121-104377121
GRCh38: 10:102617364-102617364
10 SUFU NM_016169.3(SUFU):c.1379A>G (p.Lys460Arg) SNV Uncertain significance 453960 rs778125780 GRCh37: 10:104389836-104389836
GRCh38: 10:102630079-102630079
11 SUFU NM_016169.3(SUFU):c.1015C>T (p.Arg339Trp) SNV Uncertain significance 241078 rs773037813 GRCh37: 10:104359294-104359294
GRCh38: 10:102599537-102599537

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

72
# Symbol AA change Variation ID SNP ID
1 SUFU p.His176Arg VAR_080421 rs155485227
2 SUFU p.Ile406Thr VAR_080426 rs155485475

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 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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