Details of Disease

General Information of Disease (ID: DISDJVUI)

Disease Name Joubert syndrome with ocular defect
Synonyms Joubert syndrome 3; Joubert syndrome with ocular anomalies; JBTS3; JS-O; Joubert syndrome with retinopathy
Definition
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISQ1B1S: Disorder of visual system
DIS04FVG: Joubert syndrome and related disorders
DISOV08L: Central nervous system malformation
DISDJVUI: Joubert syndrome with ocular defect
Disease Identifiers
MONDO ID
MONDO_0016364
UMLS CUI
C4274118
MedGen ID
909607
Orphanet ID
220493
SNOMED CT ID
716998009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AHI1 OT8K2YWY Supportive Autosomal recessive [1]
CEP120 OT1ZMRHL Supportive Autosomal recessive [2]
CEP41 OTKZTBOX Supportive Autosomal recessive [3]
INPP5E OTJF2AZ9 Supportive Autosomal recessive [4]
MKS1 OT83W5PB Supportive Autosomal recessive [5]
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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 Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6.
3 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.
4 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.
5 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.