MCID: JBR018
MIFTS: 22

Joubert Syndrome 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

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:



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

Related Diseases for Joubert Syndrome 4

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 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 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

Drugs & Therapeutics for Joubert Syndrome 4

Search Clinical Trials , NIH Clinical Center for 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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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