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 ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ³⁸

Jbts32 ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 Eye diseases Nephrological diseases Respiratory diseases Liver diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080278

OMIM® ⁵⁷ 617757

OMIM Phenotypic Series ⁵⁷ PS213300

MeSH ⁴³ D002526 D005124 D052177

MedGen ⁴⁰ C4540342 CN596207

SNOMED-CT via HPO ⁶⁹ 193662007 194021007 22006008 more

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Summaries for Joubert Syndrome 32

UniProtKB/Swiss-Prot: ⁷³ 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, also known as jbts32, is related to 46,xy sex reversal 7 and primary ovarian insufficiency 6. An important gene associated with Joubert Syndrome 32 is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Signal Transduction. Affiliated tissues include liver, brain and cerebellum, and related phenotypes are nystagmus and polymicrogyria

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 08-Dec-2022)

Disease Ontology: ¹¹ A Joubert syndrome that has material basis in homozygous mutation in the SUFU gene on chromosome 10q24.

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Related Diseases for Joubert Syndrome 32

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 32 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)

#	Related Disease	Score	Top Affiliating Genes
1	46,xy sex reversal 7	10.2	GLI4 DHH
2	primary ovarian insufficiency 6	10.1	SUFU SHH
3	melanotic medulloblastoma	10.1	SUFU SHH
4	medullomyoblastoma	10.1	SUFU SMO SHH
5	basal cell carcinoma, infundibulocystic	10.0	SUFU PTCH1
6	anterior cranial fossa meningioma	10.0	SUFU PTCH1
7	ovary leiomyosarcoma	10.0	SUFU PTCH1
8	basal cell carcinoma 1	9.9	SMO PTCH2 PTCH1
9	acheiropody	9.9	ZP2 SHH
10	tibia, hypoplasia or aplasia of, with polydactyly	9.9	ZP2 SHH GLI3
11	syndactyly, type iv	9.9	ZP2 SHH GLI3
12	holoprosencephaly, recurrent infections, and monocytosis	9.9	PTCH1 GLI2
13	synpolydactyly	9.9	ZP2 SHH GLI3
14	polydactyly, preaxial ii	9.9	SHH PTCH1
15	fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	9.9	SHH GLI3
16	vulva basal cell carcinoma	9.9	SHH PTCH1
17	chromosomal duplication syndrome	9.9	ZP2 SHH GLI3
18	holoprosencephaly 6	9.9	SHH PTCH1
19	pancreas, annular	9.9	SHH IHH
20	pericytoma with t(7;12)	9.7	PTCH1 GLI1
21	laurin-sandrow syndrome	9.7	ZP2 SHH IHH GLI3
22	synostosis	9.7	ZP2 SHH IHH GLI3
23	holoprosencephaly 9	9.7	SHH GLI4 GLI3 GLI2
24	trachea leiomyoma	9.7	SHH GLI1
25	penis carcinoma in situ	9.7	SUFU PTCH1 GLI1
26	bone development disease	9.7	SHH IHH GLI3 EVC2
27	holoprosencephaly 11	9.7	SHH PTCH1 GLI2
28	midline interhemispheric variant of holoprosencephaly	9.7	SHH PTCH1 GLI2
29	septopreoptic holoprosencephaly	9.7	SHH PTCH1 GLI2
30	alobar holoprosencephaly	9.7	SHH PTCH1 GLI2
31	dysostosis	9.7	SHH IHH GLI3 EVC2
32	lobar holoprosencephaly	9.7	SHH PTCH1 GLI2
33	esophageal atresia	9.7	SHH GLI3 GLI2
34	micronodular basal cell carcinoma	9.7	SHH PTCH1 GLI2
35	semilobar holoprosencephaly	9.7	SHH PTCH1 GLI2
36	solitary median maxillary central incisor	9.7	SHH PTCH1 GLI2
37	fibroepithelial basal cell carcinoma	9.7	PTCH2 PTCH1 GLI1
38	basosquamous carcinoma	9.7	PTCH2 PTCH1 GLI1
39	skin tag	9.6	PTCH1 GLI3
40	ameloblastoma	9.6	SMO PTCH1 GLI1
41	large cell medulloblastoma	9.6	SUFU SHH PTCH1 GLI2
42	adult medulloblastoma	9.6	SUFU SHH PTCH1 GLI2
43	microform holoprosencephaly	9.6	SUFU SHH PTCH1 GLI2
44	joubert syndrome 8	9.6	SUFU SHH PTCH1 GLI2
45	holoprosencephaly 7	9.6	SMO PTCH1 GLI4 GLI2 DHH
46	coloboma of macula	9.6	SHH PTCH1 KIF7 GLI3
47	tooth agenesis	9.6	SHH PTCH1 GLI3 EVC2
48	li-fraumeni syndrome	9.6	SUFU SHH PTCH1
49	polydactyly, postaxial, type a1	9.6	PTCH1 GLI3 GLI1
50	holoprosencephaly 3	9.5	SHH PTCH1 GLI3 GLI2

Graphical network of the top 20 diseases related to Joubert Syndrome 32:

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Symptoms & Phenotypes for Joubert Syndrome 32

Human phenotypes related to Joubert Syndrome 32:

³⁰ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	polymicrogyria ³⁰	Very rare (1%)	HP:0002126
3	macrocephaly ³⁰		HP:0000256
4	frontal bossing ³⁰		HP:0002007
5	ataxia ³⁰		HP:0001251
6	dysarthria ³⁰		HP:0001260
7	global developmental delay ³⁰		HP:0001263
8	depressed nasal bridge ³⁰		HP:0005280
9	hypertelorism ³⁰		HP:0000316
10	intellectual disability, mild ³⁰		HP:0001256
11	hypertrophic cardiomyopathy ³⁰		HP:0001639
12	tall stature ³⁰		HP:0000098
13	abnormal cerebellum morphology ³⁰		HP:0001317
14	large for gestational age ³⁰		HP:0001520
15	molar tooth sign on mri ³⁰		HP:0002419
16	oculomotor apraxia ³⁰		HP:0000657
17	generalized hypotonia ³⁰		HP:0001290
18	postaxial polydactyly ³⁰		HP:0100259

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
ataxia
dysarthria
intellectual disability, mild
developmental delay
molar tooth sign
more

Head And Neck Nose:
depressed nasal bridge

Growth Height:
tall stature

Skeletal Feet:
postaxial polydactyly

Cardiovascular Heart:
hypertrophic cardiomyopathy (in 1 patient)

Head And Neck Face:
frontal bossing

Muscle Soft Tissue:
hypotonia

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

Skeletal Hands:
postaxial polydactyly

Growth Other:
macrosomia

Clinical features from OMIM®:

617757 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Joubert Syndrome 32:

⁴⁵ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.41	DHH EVC2 GLI1 GLI2 GLI3 GPR161
2	homeostasis/metabolism	MP:0005376	10.35	CHKA DHH EVC2 GLI2 GLI3 KIF7
3	limbs/digits/tail	MP:0005371	10.33	EVC2 GLI1 GLI2 GLI3 GPR161 IHH
4	growth/size/body region	MP:0005378	10.29	EVC2 GLI1 GLI2 GLI3 GPR161 IHH
5	digestive/alimentary	MP:0005381	10.27	DHH EVC2 GLI1 GLI2 GLI3 GPR161
6	normal	MP:0002873	10.24	EVC2 GLI1 GLI2 GLI3 PTCH1 PTCH2
7	no phenotypic analysis	MP:0003012	10.23	GLI1 GLI2 GLI3 IHH KIF7 PTCH1
8	embryo	MP:0005380	10.22	GLI1 GLI2 GLI3 GPR161 IHH KIF7
9	endocrine/exocrine gland	MP:0005379	10.19	DHH EVC2 GLI1 GLI2 GLI3 IHH
10	cellular	MP:0005384	10.18	EVC2 GLI1 GLI2 GLI3 GPR161 IHH
11	craniofacial	MP:0005382	10.17	EVC2 GLI1 GLI2 GLI3 GPR161 IHH
12	muscle	MP:0005369	10.1	GLI2 IHH KIF7 PTCH1 PTCH2 SHH
13	respiratory system	MP:0005388	10.07	GLI1 GLI2 GLI3 GPR161 IHH KIF7
14	skeleton	MP:0005390	10.03	EVC2 GLI1 GLI2 GLI3 GPR161 IHH
15	reproductive system	MP:0005389	10.02	DHH EVC2 GLI1 GLI2 GLI3 KIF7
16	hearing/vestibular/ear	MP:0005377	10	GLI2 GLI3 GPR161 PTCH1 SHH SMO
17	vision/eye	MP:0005391	9.81	GLI2 GLI3 GPR161 IHH KIF7 PTCH1
18	mortality/aging	MP:0010768	9.77	CHKA EVC2 GLI1 GLI2 GLI3 GPR161
19	integument	MP:0010771	9.28	EVC2 GLI2 GLI3 GPR161 PTCH1 PTCH2

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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 ²⁸	SUFU

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Anatomical Context for Joubert Syndrome 32

Organs/tissues related to Joubert Syndrome 32:

MalaCards : Liver, Brain, 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 ⁵	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):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	1313.25	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	28965847
2	GLI4	GLI Family Zinc Finger 4	Protein Coding	5.93	DISEASES inferred ¹⁴
3	ZP2	Zona Pellucida Glycoprotein 2	Protein Coding	5.13	DISEASES inferred ¹⁴
4	SMO	Smoothened, Frizzled Class Receptor	Protein Coding	5.08	DISEASES inferred ¹⁴
5	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	5	DISEASES inferred ¹⁴
6	KIF7	Kinesin Family Member 7	Protein Coding	4.99	DISEASES inferred ¹⁴
7	TAAR1	Trace Amine Associated Receptor 1	Protein Coding	4.68	DISEASES inferred ¹⁴
8	GPR161	G Protein-Coupled Receptor 161	Protein Coding	4.64	DISEASES inferred ¹⁴
9	PTCH2	Patched 2	Protein Coding	4.45	DISEASES inferred ¹⁴
10	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	4.26	DISEASES inferred ¹⁴
11	SPOP	Speckle Type BTB/POZ Protein	Protein Coding	4.2	DISEASES inferred ¹⁴
12	CHKA	Choline Kinase Alpha	Protein Coding	4.14	DISEASES inferred ¹⁴
13	GLI3	GLI Family Zinc Finger 3	Protein Coding	3.89	DISEASES inferred ¹⁴
14	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	3.85	DISEASES inferred ¹⁴
15	GLI2	GLI Family Zinc Finger 2	Protein Coding	3.64	DISEASES inferred ¹⁴
16	PTCH1	Patched 1	Protein Coding	3.35	DISEASES inferred ¹⁴
17	GLI1	GLI Family Zinc Finger 1	Protein Coding	3.3	DISEASES inferred ¹⁴
18	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	3.02	DISEASES inferred ¹⁴

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Variations for Joubert Syndrome 32

ClinVar genetic disease variations for Joubert Syndrome 32:

⁵ (show all 15)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SUFU	NM_016169.4(SUFU):c.527A>G (p.His176Arg)	SNV	Pathogenic	446157	rs1554852272	GRCh37: 10:104352411-104352411 GRCh38: 10:102592654-102592654
2	SUFU	NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)	SNV	Pathogenic	446156	rs1554854758	GRCh37: 10:104377106-104377106 GRCh38: 10:102617349-102617349
3	SUFU	NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	SNV	Uncertain Significance	406392	rs746322193	GRCh37: 10:104269018-104269018 GRCh38: 10:102509261-102509261
4	SUFU	NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SNV	Uncertain Significance	135285	rs79299301	GRCh37: 10:104375030-104375030 GRCh38: 10:102615273-102615273
5	SUFU	NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	SNV	Uncertain Significance	135283	rs368178771	GRCh37: 10:104375047-104375047 GRCh38: 10:102615290-102615290
6	SUFU	NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)	SNV	Uncertain Significance	486528	rs368020224	GRCh37: 10:104377121-104377121 GRCh38: 10:102617364-102617364
7	SUFU	NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	SNV	Uncertain Significance	453960	rs778125780	GRCh37: 10:104389836-104389836 GRCh38: 10:102630079-102630079
8	SUFU	NM_016169.4(SUFU):c.325G>A (p.Gly109Arg)	SNV	Uncertain Significance	638517	rs192025919	GRCh37: 10:104309734-104309734 GRCh38: 10:102549977-102549977
9	SUFU	NM_016169.4(SUFU):c.750C>A (p.His250Gln)	SNV	Uncertain Significance	453977	rs1235137905	GRCh37: 10:104353816-104353816 GRCh38: 10:102594059-102594059
10	SUFU	NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)	SNV	Uncertain Significance	453965	rs761921681	GRCh37: 10:104263952-104263952 GRCh38: 10:102504195-102504195
11	SUFU	NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)	SNV	Uncertain Significance	999529	rs1403040084	GRCh37: 10:104353782-104353782 GRCh38: 10:102594025-102594025
12	SUFU	NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)	SNV	Uncertain Significance	241078	rs773037813	GRCh37: 10:104359294-104359294 GRCh38: 10:102599537-102599537
13	SUFU	NM_016169.4(SUFU):c.1365+19T>C	SNV	Benign	260688	rs12414407	GRCh37: 10:104387019-104387019 GRCh38: 10:102627262-102627262
14	SUFU	NM_016169.4(SUFU):c.182+16C>T	SNV	Benign	260689	rs2274351	GRCh37: 10:104264107-104264107 GRCh38: 10:102504350-102504350
15	SUFU	NM_016169.4(SUFU):c.*20T>G	SNV	Benign	1175161		GRCh37: 10:104389932-104389932 GRCh38: 10:102630175-102630175

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SUFU	p.His176Arg	VAR_080421	rs1554852272
2	SUFU	p.Ile406Thr	VAR_080426	rs1554854758

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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

Pathways related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

(show all 27)

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of activated PAK-2p34 by proteasome mediated degradation ⁶⁶ Show member pathways ABC transporter disorders ⁶⁶ ABC transporters in lipid homeostasis ⁶⁶ ABC-family proteins mediated transport ⁶⁶ Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins ⁶⁶ Activation of NF-kappaB in B cells ⁶⁶ Activation of SMO ⁶⁶ APC/C:Cdc20 mediated degradation of mitotic proteins ⁶⁶ APC/C:Cdc20 mediated degradation of Securin ⁶⁶ APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 ⁶⁶ APC/C-mediated degradation of cell cycle proteins ⁶⁶ APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint ⁶⁶ Asymmetric localization of PCP proteins ⁶⁶ AUF1 (hnRNP D0) binds and destabilizes mRNA ⁶⁶ Autodegradation of Cdh1 by Cdh1:APC/C ⁶⁶ Autodegradation of the E3 ubiquitin ligase COP1 ⁶⁶ Beta-catenin independent WNT signaling ⁶⁶ Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA ⁶⁶ Ca2+ pathway ⁶⁶ Calcineurin activates NFAT ⁶⁶ Cdc20:Phospho-APC/C mediated degradation of Cyclin A ⁶⁶ CDK-mediated phosphorylation and removal of Cdc6 ⁶⁶ Cellular response to hypoxia ⁶⁶ Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase ⁶⁶ Cross-presentation of soluble exogenous antigens (endosomes) ⁶⁶ Cyclin A:Cdk2-associated events at S phase entry ⁶⁶ Cyclin E associated events during G1/S transition ⁶⁶ Dectin-1 mediated noncanonical NF-kB signaling ⁶⁶ Defective ABCA12 causes ARCI4B ⁶⁶ Defective ABCB6 causes MCOPCB7 ⁶⁶ Defective CFTR causes cystic fibrosis ⁶⁶ Degradation of AXIN ⁶⁶ Degradation of beta-catenin by the destruction complex ⁶⁶ Degradation of DVL ⁶⁶ Degradation of GLI1 by the proteasome ⁶⁶ Degradation of GLI2 by the proteasome ⁶⁶ Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Establishment of Sister Chromatid Cohesion ⁶⁶ FBXL7 down-regulates AURKA during mitotic entry and in early mitosis ⁶⁶ Fc epsilon receptor (FCERI) signaling ⁶⁶ FCERI mediated NF-kB activation ⁶⁶ G1/S DNA Damage Checkpoints ⁶⁶ GLI3 is processed to GLI3R by the proteasome ⁶⁶ GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2 ⁶⁶ Hedgehog ligand biogenesis ⁶⁶ Hedgehog 'on' state ⁶⁶ Hh mutants abrogate ligand secretion ⁶⁶ Hh mutants are degraded by ERAD ⁶⁶ HuR (ELAVL1) binds and stabilizes mRNA ⁶⁶ Immune response Antigen presentation by MHC class I ²² Interconversion of polyamines ⁶⁶ KSRP (KHSRP) binds and destabilizes mRNA ⁶⁶ MAPK6/MAPK4 signaling ⁶⁶ Metabolism of polyamines ⁶⁶ Mitochondrial ABC transporters ⁶⁶ Negative regulation of NOTCH4 signaling ⁶⁶ NIK-->noncanonical NF-kB signaling ⁶⁶ NOTCH4 Activation and Transmission of Signal to the Nucleus ⁶⁶ NOTCH4 Intracellular Domain Regulates Transcription ⁶⁶ Orc1 removal from chromatin ⁶⁶ Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha ⁶⁶ p53-Dependent G1 DNA Damage Response ⁶⁶ p53-Dependent G1/S DNA damage checkpoint ⁶⁶ p53-Independent DNA Damage Response ⁶⁶ p53-Independent G1/S DNA damage checkpoint ⁶⁶ PAOs oxidise polyamines to amines ⁶⁶ Parkinson's Disease Pathway ⁶⁴ Parkin-ubiquitin proteasomal system pathway ⁷⁴ PCP/CE pathway ⁶⁶ Phosphorylation of the APC/C ⁶⁶ Proteasome degradation ⁷⁴ Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway ²² putrescine biosynthesis III ⁶¹ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶ Regulation of APC/C activators between G1/S and early anaphase ⁶⁶ Regulation of Apoptosis ⁶⁶ Regulation of gene expression by Hypoxia-inducible Factor ⁶⁶ Regulation of mitotic cell cycle ⁶⁶ Regulation of mRNA stability by proteins that bind AU-rich elements ⁶⁶ Regulation of ornithine decarboxylase (ODC) ⁶⁶ Regulation of PAK-2p34 activity by PS-GAP/RHG10 ⁶⁶ Regulation of PTEN stability and activity ⁶⁶ Regulation of RAS by GAPs ⁶⁶ Regulation of RUNX2 expression and activity ⁶⁶ Regulation of RUNX3 expression and activity ⁶⁶ Release of Hh-Np from the secreting cell ⁶⁶ Repression of WNT target genes ⁶⁶ Role of LAT2/NTAL/LAB on calcium mobilization ⁶⁶ RUNX2 regulates genes involved in cell migration ⁶⁶ RUNX3 regulates BCL2L11 (BIM) transcription ⁶⁶ RUNX3 regulates CDKN1A transcription ⁶⁶ RUNX3 Regulates Immune Response and Cell Migration ⁶⁶ RUNX3 regulates NOTCH signaling ⁶⁶ RUNX3 regulates p14-ARF ⁶⁶ RUNX3 regulates RUNX1-mediated transcription ⁶⁶ RUNX3 regulates WNT signaling ⁶⁶ RUNX3 regulates YAP1-mediated transcription ⁶⁶ S Phase ⁶⁶ SCF(Skp2)-mediated degradation of p27/p21 ⁶⁶ SCF-beta-TrCP mediated degradation of Emi1 ⁶⁶ Signaling by NOTCH4 ⁶⁶ Signaling by TCF7L2 mutants ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶ spermine and spermidine degradation I ⁶¹ Stabilization of p53 ⁶⁶ superpathway of polyamine biosynthesis II ⁶¹ Switching of origins to a post-replicative state ⁶⁶ Synthesis of DNA ⁶⁶ The role of GTSE1 in G2/M progression after G2 checkpoint ⁶⁶ TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway ⁶⁶ TNFR2 non-canonical NF-kB pathway ⁶⁶ Transcriptional regulation by RUNX2 ⁶⁶ Transcriptional regulation by RUNX3 ⁶⁶ Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA ⁶⁶ Ubiquitin Mediated Degradation of Phosphorylated Cdc25A ⁶⁶ Ubiquitin-dependent degradation of Cyclin D ⁶⁶ UCH proteinases ⁶⁶ Vif-mediated degradation of APOBEC3G ⁶⁶ Vpu mediated degradation of CD4 ⁶⁶ WNT5A-dependent internalization of FZD2, FZD5 and ROR2 ⁶⁶ WNT5A-dependent internalization of FZD4 ⁶⁶	14.22	SUFU SPOP SMO SHH PTCH1 KIF7
2	Signal Transduction ⁶⁶	13.66	TAAR1 SUFU SPOP SMO SHH PTCH2
3	GPCR downstream signalling ⁶⁶ Show member pathways G alpha (i) signalling events ⁶⁶ G alpha (q) signalling events ⁶⁶ Signaling by GPCR ⁶⁶	13.45	TAAR1 SMO SHH PTCH2 PTCH1 IHH
4	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.42	SUFU SMO PTCH2 PTCH1 IHH GLI1
5	Class A/1 (Rhodopsin-like receptors) ⁶⁶ Show member pathways GPCR ligand binding ⁶⁶ GPCRs, class A rhodopsin-like ⁷⁴ Peptide GPCRs ⁷⁴ Peptide ligand-binding receptors ⁶⁶	13.3	TAAR1 SMO SHH PTCH2 PTCH1 IHH
6	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.17	SUFU SMO PTCH2 PTCH1 IHH GLI1
7	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.62	SMO PTCH2 PTCH1 GLI3 GLI2 GLI1
8	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.42	DHH IHH PTCH1 PTCH2 SHH SMO
9	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.39	DHH EVC2 GLI1 GLI2 GLI3 GPR161
10	Wnt / Hedgehog / Notch ³	12.26	SUFU SHH PTCH2 PTCH1 GLI2 GLI1
11	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	12.14	SUFU SMO PTCH1 KIF7 GPR161 GLI3
12	Ciliopathies ⁷⁴	12.03	SUFU SMO KIF7 GPR161 GLI3 GLI2
13	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.9	PTCH1 IHH GLI3
14	Hedgehog signaling pathway ⁷⁴	11.73	DHH EVC2 GLI1 GLI2 GLI3 GPR161
15	Osteoblast differentiation and related diseases ⁷⁴	11.71	SMO PTCH1 IHH GLI3 GLI2
16	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.57	GLI2 GLI3 IHH
17	Development of ureteric collection system ⁷⁴	11.55	SMO SHH GLI3 GLI2 GLI1
18	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.47	GLI1 GLI2 IHH PTCH1 SHH SMO
19	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.33	GLI1 GLI2 GLI3 GLI4 PTCH1 SMO
20	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	11.27	GLI1 GLI2 PTCH1 SHH SMO
21	Dopaminergic neurogenesis ⁷⁴	11.24	GLI1 GLI2 SHH
22	Alstrom syndrome ⁷⁴	11.21	SMO PTCH1 GPR161
23	Hedgehog signaling events mediated by Gli proteins ⁶¹	11.14	GLI1 GLI2 GLI3 PTCH1 SHH SMO
24	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	10.78	DHH GLI2 GLI3 IHH PTCH1 PTCH2
25	EDA signaling in hair follicle development ⁷⁴	10.77	SHH PTCH1 GLI1
26	Tgif disruption of Shh signaling ⁷⁴ Show member pathways mir34a and TGIF2 in osteoclastogenesis ⁷⁴	10.62	SHH GLI3
27	Glypican 3 network ⁶¹	10.51	SHH PTCH1

Sources

GO Terms for Joubert Syndrome 32

Cellular components related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cilium	GO:0005929	10.03	EVC2 GLI1 GLI2 GLI3 GPR161 KIF7
2	ciliary membrane	GO:0060170	9.92	SMO PTCH1 GPR161 EVC2
3	ciliary base	GO:0097546	9.86	SUFU GLI3 GLI2 GLI1
4	endocytic vesicle membrane	GO:0030666	9.85	SMO PTCH1 GPR161
5	ciliary tip	GO:0097542	9.73	SUFU SMO KIF7 GLI3 GLI2 GLI1
6	GLI-SUFU complex	GO:1990788	9.17	SUFU GLI3 GLI2 GLI1

Biological processes related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

(show top 50) (show all 80)

#	Name	GO ID	Score	Top Affiliating Genes
1	in utero embryonic development	GO:0001701	10.36	GLI2 GLI3 IHH PTCH1 SMO
2	regulation of gene expression	GO:0010468	10.34	SMO SHH IHH GLI3 DHH
3	lung development	GO:0030324	10.29	GLI1 GLI2 GLI3 SHH
4	heart looping	GO:0001947	10.26	SUFU SMO SHH IHH
5	osteoblast differentiation	GO:0001649	10.26	DHH GLI1 GLI2 GLI3 IHH SMO
6	odontogenesis of dentin-containing tooth	GO:0042475	10.25	SMO SHH GLI3 GLI2
7	branching involved in ureteric bud morphogenesis	GO:0001658	10.21	SHH PTCH1 GLI3
8	cell fate specification	GO:0001708	10.21	DHH IHH SHH SMO
9	positive regulation of protein import into nucleus	GO:0042307	10.2	GLI3 SHH SMO
10	neuroblast proliferation	GO:0007405	10.2	SMO SHH GLI3
11	hair follicle morphogenesis	GO:0031069	10.19	SMO SHH GLI2
12	anterior/posterior pattern specification	GO:0009952	10.19	GLI2 GLI3 SHH SMO
13	liver regeneration	GO:0097421	10.18	PTCH1 IHH GLI1
14	positive regulation of neuroblast proliferation	GO:0002052	10.18	SMO SHH GLI3
15	embryonic digit morphogenesis	GO:0042733	10.18	SHH IHH GLI3 GLI2
16	protein autoprocessing	GO:0016540	10.17	SHH IHH DHH
17	proximal/distal pattern formation	GO:0009954	10.17	GLI3 GLI2 GLI1
18	stem cell proliferation	GO:0072089	10.17	SHH PTCH1 GLI3 GLI2
19	positive regulation of epithelial cell proliferation	GO:0050679	10.15	SMO SHH IHH GLI2
20	embryonic digestive tract morphogenesis	GO:0048557	10.14	SHH IHH GLI3
21	embryonic limb morphogenesis	GO:0030326	10.13	SHH PTCH1 GLI3
22	skin development	GO:0043588	10.13	SUFU SHH PTCH2
23	prostate gland development	GO:0030850	10.12	SHH PTCH1 GLI1
24	self proteolysis	GO:0097264	10.11	DHH IHH SHH
25	somite development	GO:0061053	10.11	SMO SHH PTCH1 IHH
26	positive regulation of T cell differentiation in thymus	GO:0033089	10.1	SHH IHH GLI2
27	positive regulation of alpha-beta T cell differentiation	GO:0046638	10.09	SHH IHH GLI3
28	branching morphogenesis of an epithelial tube	GO:0048754	10.08	SHH GLI3 GLI2
29	cell population proliferation	GO:0008283	10.08	SMO SHH IHH GLI3 GLI2
30	negative regulation of chondrocyte differentiation	GO:0032331	10.08	IHH GLI3 GLI2
31	smooth muscle tissue development	GO:0048745	10.08	SMO SHH PTCH1 IHH
32	positive regulation of mesenchymal cell proliferation	GO:0002053	10.07	IHH SHH SMO
33	developmental growth	GO:0048589	10.07	SMO SHH GLI3 GLI2
34	regulation of proteolysis	GO:0030162	10.06	SPOP SHH
35	cerebellar cortex morphogenesis	GO:0021696	10.06	SMO GLI2 GLI1
36	commissural neuron axon guidance	GO:0071679	10.05	SMO PTCH1
37	negative thymic T cell selection	GO:0045060	10.05	SHH GLI3
38	thalamus development	GO:0021794	10.05	SMO SHH
39	artery development	GO:0060840	10.05	GLI3 SHH
40	metanephric collecting duct development	GO:0072205	10.05	PTCH1 SHH
41	alpha-beta T cell differentiation	GO:0046632	10.05	SHH GLI3
42	epithelial cell proliferation	GO:0050673	10.05	GLI2 PTCH1 SHH SMO
43	hindgut morphogenesis	GO:0007442	10.05	SHH GLI3 GLI2
44	positive regulation of epidermal cell differentiation	GO:0045606	10.04	PTCH2 PTCH1
45	camera-type eye development	GO:0043010	10.04	SHH IHH GLI3
46	chondrocyte differentiation	GO:0002062	10.04	IHH GLI3 GLI2
47	negative regulation of T cell differentiation in thymus	GO:0033085	10.04	IHH SHH
48	spinal cord motor neuron differentiation	GO:0021522	10.04	GLI2 GLI3 PTCH1 SHH
49	negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	GO:1901621	10.03	GPR161 SUFU
50	negative regulation of alpha-beta T cell differentiation	GO:0046639	10.03	SHH IHH GLI3

Molecular functions related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hedgehog family protein binding	GO:0097108	9.62	PTCH2 PTCH1
2	hedgehog receptor activity	GO:0008158	9.56	PTCH2 PTCH1
3	smoothened binding	GO:0005119	9.46	PTCH2 PTCH1
4	cholesterol-protein transferase activity	GO:0140853	9.43	SHH IHH DHH
5	patched binding	GO:0005113	9.32	SMO SHH PTCH1 IHH DHH

Sources

Sources for Joubert Syndrome 32

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

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⁹ dbSNP

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¹¹ Disease Ontology

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁶ GEO DataSets

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³¹ ICD10

³² ICD10 via Orphanet

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³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

JBTS32 MCID: JBR043 MIFTS: 46	Joubert Syndrome 32 (JBTS32) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Joubert Syndrome 32 (JBTS32)

Aliases & Classifications for Joubert Syndrome 32

MalaCards integrated aliases for Joubert Syndrome 32:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Joubert Syndrome 32

Related Diseases for Joubert Syndrome 32

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 32 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Joubert Syndrome 32:

Symptoms & Phenotypes for Joubert Syndrome 32

Human phenotypes related to Joubert Syndrome 32:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Joubert Syndrome 32:

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

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

Pathways related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

GO Terms for Joubert Syndrome 32

Cellular components related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

Biological processes related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

Molecular functions related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

Sources for Joubert Syndrome 32