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Senior-Boichis syndrome

Disease definition

A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.


Classification level: Disorder
  • Synonym(s):
    • Boichis disease
    • Nephronophthisis-hepatic fibrosis syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: Q61.8
  • ICD-11: GB8Y
  • OMIM: 613550  616217
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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