Orphanet: Joubert syndrome with renal defect
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Joubert syndrome with renal defect

Disease definition

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

ORPHA:220497

Classification level: Disorder
  • Synonym(s):
    • JS-R
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3  Q61.5
  • OMIM: 609583  611560  614424
  • UMLS: -
  • MeSH: -
  • GARD: 10169
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

In most cases, renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile NPH, with onset in the first years of life.

Etiology

The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance.

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

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Polski (2011, pdf)

Detailed information

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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