Details of Disease

General Information of Disease (ID: DIS52E3N)

Disease Name Joubert syndrome with renal defect
Synonyms Joubert syndrome 4; Joubert syndrome with renal anomalies; JBTS4; JS-R; Joubert syndrome type 4
Definition A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DIS52E3N: Joubert syndrome with renal defect
Disease Identifiers
MONDO ID
MONDO_0012308
MESH ID
C536296
UMLS CUI
C1846790
OMIM ID
609583
MedGen ID
335526
Orphanet ID
220497

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RPGRIP1L OT6Z069I Supportive Autosomal recessive [1]
TMEM237 OTQEVL7L Supportive Autosomal recessive [2]
NPHP1 OTZHCFFQ Definitive Autosomal recessive [3]
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References

1 Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20.
2 Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.