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 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Jbts4 ⁵⁷ ¹² ⁷⁵

Joubert Syndrome, Type 4 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

joubert syndrome 4:
Inheritance heterogeneous autosomal recessive inheritance

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 609583

Disease Ontology ¹² DOID:0110999

MedGen ⁴² C1846790

MeSH ⁴⁴ D002526 D005124 D052177

SNOMED-CT via HPO ⁶⁹ 258211005 236423003 42399005 more

UMLS ⁷³ C1846790

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Summaries for Joubert Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ 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 kidney and eye, 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

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	11.1

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Symptoms & Phenotypes for Joubert Syndrome 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Joubert Syndrome 4:

³² (show all 13)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	ataxia ³²	HP:0001251
3	cognitive impairment ³²	HP:0100543
4	renal insufficiency ³²	HP:0000083
5	nephronophthisis ³²	HP:0000090
6	oculomotor apraxia ³²	HP:0000657
7	delayed gross motor development ³²	HP:0002194
8	cerebellar vermis hypoplasia ³²	HP:0001320
9	molar tooth sign on mri ³²	HP:0002419
10	generalized hypotonia ³²	HP:0001290
11	hypometric saccades ³²	HP:0000571
12	elongated superior cerebellar peduncle ³²	HP:0011933
13	thickened superior cerebellar peduncle ³²	HP:0002404

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

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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 ²⁹	NPHP1

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Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

⁴¹

Kidney, Eye

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Publications for Joubert Syndrome 4

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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	1026.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ 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.625-3dupT	duplication	Uncertain significance	rs200118387	GRCh38	Chromosome 2, 110165158: 110165158
3	NPHP1	NM_000272.3(NPHP1): c.625-3dupT	duplication	Uncertain significance	rs200118387	GRCh37	Chromosome 2, 110922735: 110922735
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

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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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Sources for Joubert Syndrome 4

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