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Joubert syndrome with hepatic defect
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:1454Classification level: Disorder
- COACH syndrome
- Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
- Gentile syndrome
- 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: -
Prevalence is unknown.
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.
Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).
Transmission is autosomal recessive.