Orphanet: Joubert syndrome with oculorenal defect
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Joubert syndrome with oculorenal defect

Disease definition

A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

ORPHA:2318

Classification level: Disorder
  • 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.

Expert reviewer(s):  Dr Francesco BRANCATI - Pr Bruno DALLAPICCOLA - Pr Enza Maria VALENTE - Last update: July 2011

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