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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617757

Disease Ontology ¹² DOID:0080278

MedGen ⁴² C4540342 CN596207

MeSH ⁴⁴ D002526 D005124 D052177

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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)

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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

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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

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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

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Anatomical Context for Joubert Syndrome 32

MalaCards organs/tissues related to Joubert Syndrome 32:

⁴¹

Liver, Brain

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Publications for Joubert Syndrome 32

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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	PubmedIds
1	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1227.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	28965847

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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	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

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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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