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ciliary disorder; ciliopathy
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
Related
cilia
Specific
ciliary dyskinesia; immotile cilia syndrome (Kartagener's syndrome)
Joubert syndrome 2; cerebello-oculo-renal syndrome; Joubert syndrome type B (JBTS2)
General
metabolic disease
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: 17558409
- den Hollander AI et al,
Mutations encoding the ciliary protein lebercilin, cause
Leber congenital amaurosis.
Nat Genet 2007, 39:889
PMID: 17546029