Search for a rare disease
Other search option(s)
Joubert syndrome with oculorenal defect
Disease definition
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.
ORPHA:2318
- Synonym(s):
- Arima syndrome
- CORS
- Cerebellooculorenal syndrome
- Dekaban-Arima syndrome
- JS type B
- JS-OR
- Joubert syndrome with Senior-Loken syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q04.3
- OMIM: 243910 608091 610188 612285 614424 614465 614844
- UMLS: C1855675
- MeSH: -
- GARD: 9455
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown.
Clinical description
Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.
Etiology
About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2011, pdf)
- Polski (2011, pdf)
- Review article
- English (2010)
- Clinical practice guidelines
- Español (2017, pdf)
- Practical genetics
- English (2007, pdf)
- Guidance for genetic testing
- English (2013, pdf)
- Clinical genetics review
- English (2017)
Additional information