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Joubert syndrome with hepatic defect

Disease definition

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

ORPHA:1454

Classification level: Disorder
  • Synonym(s):
    • COACH syndrome
    • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q04.3
  • OMIM: 216360
  • UMLS: C1857662
  • MeSH: -
  • GARD: 1410
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis (NPH), but these are not mandatory features.

Etiology

Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).

Genetic counseling

Transmission is autosomal recessive.

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

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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.