Joubert Syndrome 32 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080278

OMIM® ⁵⁷ 617757

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴⁴ D002526 D005124 D052177

MedGen ⁴¹ C4540342 CN596207

SNOMED-CT via HPO ⁶⁸ 193662007 194021007 22006008 more

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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)

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Related Diseases for Joubert Syndrome 32

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10	Joubert Syndrome 2
Joubert Syndrome 3	Joubert Syndrome 4
Joubert Syndrome 5	Joubert Syndrome 6
Joubert Syndrome 7	Joubert Syndrome 9
Joubert Syndrome 8	Joubert Syndrome 13
Joubert Syndrome 14	Joubert Syndrome 15
Joubert Syndrome 16	Joubert Syndrome 17
Joubert Syndrome 18	Joubert Syndrome 20
Joubert Syndrome 21	Joubert Syndrome 22
Joubert Syndrome 23	Joubert Syndrome 24
Joubert Syndrome 25	Joubert Syndrome 26
Joubert Syndrome 27	Joubert Syndrome 28
Joubert Syndrome 30	Joubert Syndrome 32
Joubert Syndrome 31	Joubert Syndrome 33
Joubert Syndrome 35	Joubert Syndrome 36
Joubert Syndrome 37

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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)

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Drugs & Therapeutics for Joubert Syndrome 32

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 32

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Genetic Tests for Joubert Syndrome 32

Genetic tests related to Joubert Syndrome 32:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 32 ²⁹	SUFU

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Anatomical Context for Joubert Syndrome 32

MalaCards organs/tissues related to Joubert Syndrome 32:

⁴⁰

Cerebellum

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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	De Mori R...Valente EM	28965847	2017

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Genes for Joubert Syndrome 32

Genes related to Joubert Syndrome 32 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1317.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28965847

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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

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Expression for Joubert Syndrome 32

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

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Pathways for Joubert Syndrome 32

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GO Terms for Joubert Syndrome 32

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Sources for Joubert Syndrome 32

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⁷³ Wikipedia

Joubert Syndrome 32 (JBTS32)

Aliases & Classifications for Joubert Syndrome 32

MalaCards integrated aliases for Joubert Syndrome 32:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 32

Related Diseases for Joubert Syndrome 32

Diseases in the Joubert Syndrome 1 family:

Symptoms & Phenotypes for Joubert Syndrome 32

Human phenotypes related to Joubert Syndrome 32:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Joubert Syndrome 32

Genetic Tests for Joubert Syndrome 32

Genetic tests related to Joubert Syndrome 32:

Anatomical Context for Joubert Syndrome 32

MalaCards organs/tissues related to Joubert Syndrome 32:

Publications for Joubert Syndrome 32

Articles related to Joubert Syndrome 32:

Genes for Joubert Syndrome 32

Genes related to Joubert Syndrome 32 (1 elite genes):

Variations for Joubert Syndrome 32

ClinVar genetic disease variations for Joubert Syndrome 32:

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

Expression for Joubert Syndrome 32

Pathways for Joubert Syndrome 32

GO Terms for Joubert Syndrome 32

Sources for Joubert Syndrome 32