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Joubert syndrome with renal defect
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:220497Classification level: Disorder
Prevalence is unknown.
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.
The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance.
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)
- Clinical practice guidelines
- Français (2021) - PNDS
- Anesthesia guidelines
- Czech (2019) - Orphananesthesia
- Deutsch (2022) - Orphananesthesia
- English (2022) - Orphananesthesia
- Español (2022) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
- Clinical genetics review
- English (2017) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.