Ciliary Disorder

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Etiology 3 Clinical-manifestations 4 Laboratory 5 More General Terms 6 Additional Terms 7 References

More Specific Terms

• ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome)
• Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)

Etiology

• (associated disorders)
• congenital kidney disease
• Bardet-Biedl syndrome
• obesity
• diabetes
• structural birth defects
• cerebello-oculo-renal syndrome
• Meckel syndrome
• Leber congenital amaurosis

Clinical-manifestations

• (may be present)
• polydactyly
• polycystic kidneys

Laboratory

• abnormal liver function tests may be observed
• abnormal kidney function tests may be observed

More General Terms

• metabolic disease

Additional Terms

• cilia

References

1. Delous M et al, The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007, 39:875 PMID: [1]
2. den Hollander AI et al, Mutations encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007, 39:889 PMID: [2]

ciliary disorder