ciliary disorder; ciliopathy
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Etiology
(associated disorders)
- congenital kidney disease
- Bardet-Biedl syndrome
- obesity
- diabetes
- structural birth defects
- cerebello-oculo-renal syndrome
- Meckel syndrome
- Leber congenital amaurosis
- Joubert syndrome
- nephronophtisis
- Senior-Loken syndrome
- Jeune asphyxiating thoracic dystrophy
Pathology
- ciliary dysfunction leads to a broad spectrum of disorders
- overlapping features include retinal degeneration, polycystic kidneys, skeletal abnormalities (polydactyly), fibrosis of various organ, & a complex range of anatomical & functional defects of the central nervous system & peripheral nervous system
Genetics
- single-locus allelism is insufficient to explain the variable penetrance & expressivity
Laboratory
- abnormal liver function tests may be observed
- abnormal kidney function tests may be observed
More general terms
More specific terms
- ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome)
- Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)
Additional terms
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/17558409
- ↑ den Hollander AI et al, Mutations encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007, 39:889 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17546029