JBTS4
MCID: JBR018
MIFTS: 26

Joubert Syndrome 4 (JBTS4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Joubert Syndrome 4

MalaCards integrated aliases for Joubert Syndrome 4:

Name: Joubert Syndrome 4 57 12 74 29 13 6 44 72
Jbts4 57 12 74
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 autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110999
MedGen 42 C1846790
UMLS 72 C1846790

Summaries for Joubert Syndrome 4

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 609583 PS213300

Related Diseases for Joubert Syndrome 4

Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

32 (show all 13)
# Description HPO Frequency 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 generalized hypotonia 32 HP:0001290
6 nephronophthisis 32 HP:0000090
7 oculomotor apraxia 32 HP:0000657
8 delayed gross motor development 32 HP:0002194
9 cerebellar vermis hypoplasia 32 HP:0001320
10 molar tooth sign on mri 32 HP:0002419
11 hypometric saccades 32 HP:0000571
12 elongated superior cerebellar peduncle 32 HP:0011933
13 thickened superior cerebellar peduncle 32 HP:0002404

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

UMLS symptoms related to Joubert Syndrome 4:


ataxia

Drugs & Therapeutics for Joubert Syndrome 4

Search Clinical Trials , NIH Clinical Center for Joubert Syndrome 4

Cochrane evidence based reviews: joubert syndrome 4

Genetic Tests for Joubert Syndrome 4

Genetic tests related to Joubert Syndrome 4:

# Genetic test Affiliating Genes
1 Joubert Syndrome 4 29 NPHP1

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

41
Kidney, Eye

Publications for Joubert Syndrome 4

Articles related to Joubert Syndrome 4:

# Title Authors PMID Year
1
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 8 71
16155189 2006
2
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 8 71
15138899 2004
3
Exome sequencing can improve diagnosis and alter patient management. 71
22700954 2012
4
Clinical utility gene card for: Joubert syndrome. 71
21448235 2011
5
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 71
21633164 2011
6
Joubert Syndrome 71
20301500 2003
7
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 71
10712196 2000
8
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 71
9856524 1998
9
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 71
9326933 1997
10
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 71
8852662 1996

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

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

Expression for Joubert Syndrome 4

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

Pathways for Joubert Syndrome 4

GO Terms for Joubert Syndrome 4

Sources for Joubert Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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