JBTS4
MCID: JBR018
MIFTS: 23

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 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:



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 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

Related Diseases for Joubert Syndrome 4

Symptoms & Phenotypes for Joubert Syndrome 4

Human phenotypes related to Joubert Syndrome 4:

33 (show all 13)
# Description HPO Frequency 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

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 30 NPHP1

Anatomical Context for Joubert Syndrome 4

MalaCards organs/tissues related to Joubert Syndrome 4:

42
Kidney, Eye

Publications for Joubert Syndrome 4

Variations for Joubert Syndrome 4

ClinVar genetic disease variations for Joubert Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh37 Chromosome 2, 110936097: 110936097
2 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh38 Chromosome 2, 110178520: 110178520
3 2q13 deletion deletion Pathogenic
4 NPHP1 NPHP1, DEL deletion Pathogenic
5 NPHP1 NM_000272.3(NPHP1): c.625-3dup duplication Conflicting interpretations of pathogenicity rs200118387 GRCh38 Chromosome 2, 110165163: 110165163
6 NPHP1 NM_000272.3(NPHP1): c.625-3dup duplication Conflicting interpretations of pathogenicity rs200118387 GRCh37 Chromosome 2, 110922740: 110922740

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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