Joubert Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Joubert Syndrome 4

MalaCards integrated aliases for Joubert Syndrome 4:

Name: Joubert Syndrome 4 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ⁴⁵ ⁷⁴

Jbts4 ⁵⁸ ¹² ⁷⁶

Joubert Syndrome, Type 4 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
phenotypically mild form of joubert syndrome
genetic heterogeneity (see jbts1 )
allelic disorder to juvenile nephronophthisis-1

HPO:

³³

joubert syndrome 4:
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110999

OMIM ⁵⁸ 609583

MeSH ⁴⁵ C536296 D002526 D005124 more

MedGen ⁴³ C1846790

SNOMED-CT via HPO ⁷⁰ 193662007 204958008 236423003 more

UMLS ⁷⁴ C1846790

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Summaries for Joubert Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁶ Joubert syndrome 4: 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 and renal disease. Joubert syndrome type 4 is a phenotypically mild form.

MalaCards based summary : Joubert Syndrome 4, also known as jbts4, is related to joubert syndrome with renal anomalies, and has symptoms including ataxia An important gene associated with Joubert Syndrome 4 is NPHP1 (Nephrocystin 1). Affiliated tissues include eye, kidney and liver, and related phenotypes are nystagmus and ataxia

Disease Ontology : ¹² A Joubert syndrome that has material basis in deletions of the NPHP1 gene on chromosome 2q13.

Description from OMIM: 609583

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Related Diseases for Joubert Syndrome 4

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

Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	joubert syndrome with renal anomalies	11.3

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Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

³³ (show all 13)

#	Description	HPO Source Accession
1	nystagmus ³³	HP:0000639
2	ataxia ³³	HP:0001251
3	cognitive impairment ³³	HP:0100543
4	renal insufficiency ³³	HP:0000083
5	nephronophthisis ³³	HP:0000090
6	generalized hypotonia ³³	HP:0001290
7	oculomotor apraxia ³³	HP:0000657
8	delayed gross motor development ³³	HP:0002194
9	cerebellar vermis hypoplasia ³³	HP:0001320
10	molar tooth sign on mri ³³	HP:0002419
11	hypometric saccades ³³	HP:0000571
12	elongated superior cerebellar peduncle ³³	HP:0011933
13	thickened superior cerebellar peduncle ³³	HP:0002404

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
nystagmus
oculomotor apraxia
hypometric saccades
abnormal eye movements

Genitourinary Kidneys:
nephronophthisis
renal failure
tubulointerstitial medullary cystic kidney disease

Neurologic Central Nervous System:
ataxia
cerebellar vermis hypoplasia
cognitive impairment, mild
hypotonia, mild
'molar tooth sign' on mri
more

Clinical features from OMIM:

609583

UMLS symptoms related to Joubert Syndrome 4:

ataxia

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Drugs & Therapeutics for Joubert Syndrome 4

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

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Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

#	Genetic test	Affiliating Genes
1	Joubert Syndrome 4 ³⁰	NPHP1

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Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

⁴²

Eye, Kidney, Liver

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Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

#	Title	Authors	Year
1	AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. ( 16155189 )	Parisi MA...Glass IA	2006
2	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ( 15138899 )	Parisi MA...Glass IA	2004
3	Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ( 10712196 )	Saunier S...Antignac C	2000
4	Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. ( 9856524 )	Caridi G...Ghiggeri GM	1998
5	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. ( 9326933 )	Hildebrandt F...Brandis M	1997
6	Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ( 8852662 )	Konrad M...Antignac C	1996

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Genes for Joubert Syndrome 4

Genes related to Joubert Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NPHP1	Nephrocystin 1	Protein Coding	1026.79	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	10712196 8852662 9326933 (more) 9856524 15138899 16155189 20301500 27336129

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Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NPHP1	NPHP1, DEL	deletion	Pathogenic
2	NPHP1	NM_000272.3(NPHP1): c.625-3dup	duplication	Conflicting interpretations of pathogenicity	rs200118387	GRCh38	Chromosome 2, 110165163: 110165163
3	NPHP1	NM_000272.3(NPHP1): c.625-3dup	duplication	Conflicting interpretations of pathogenicity	rs200118387	GRCh37	Chromosome 2, 110922740: 110922740
4	NPHP1	NM_000272.3(NPHP1): c.232T> C (p.Tyr78His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140446520	GRCh37	Chromosome 2, 110936097: 110936097
5	NPHP1	NM_000272.3(NPHP1): c.232T> C (p.Tyr78His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140446520	GRCh38	Chromosome 2, 110178520: 110178520
6		2q13 deletion	deletion	Pathogenic
7	NPHP1	NM_000272.3(NPHP1): c.971T> C (p.Met324Thr)	single nucleotide variant	Uncertain significance	rs114250691	GRCh37	Chromosome 2, 110920681: 110920681
8	NPHP1	NM_000272.3(NPHP1): c.971T> C (p.Met324Thr)	single nucleotide variant	Uncertain significance	rs114250691	GRCh38	Chromosome 2, 110163104: 110163104
9	NPHP1	NM_000272.3(NPHP1): c.1333C> T (p.Arg445Cys)	single nucleotide variant	Uncertain significance	rs375907280	GRCh38	Chromosome 2, 110148020: 110148020
10	NPHP1	NM_000272.3(NPHP1): c.1333C> T (p.Arg445Cys)	single nucleotide variant	Uncertain significance	rs375907280	GRCh37	Chromosome 2, 110905597: 110905597

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Expression for Joubert Syndrome 4

Search GEO for disease gene expression data for Joubert Syndrome 4.

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Pathways for Joubert Syndrome 4

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GO Terms for Joubert Syndrome 4

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Joubert Syndrome 4 (JBTS4)

Aliases & Classifications for Joubert Syndrome 4

MalaCards integrated aliases for Joubert Syndrome 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Joubert Syndrome 4

Related Diseases for Joubert Syndrome 4

Diseases in the Joubert Syndrome 1 family:

Diseases related to Joubert Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Joubert Syndrome 4:

Drugs & Therapeutics for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

Genes for Joubert Syndrome 4

Genes related to Joubert Syndrome 4 (1 elite genes):

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

Expression for Joubert Syndrome 4

Pathways for Joubert Syndrome 4

GO Terms for Joubert Syndrome 4

Sources for Joubert Syndrome 4