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Results 1 - 10 of 12 for Retinal ciliopathy
  1. Senior-Løken syndrome 
    ... mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  2. CEP290 gene 
    ... the brain and spinal cord (central nervous system), retina, and kidneys. Meckel syndrome is typically the most severe of the CEP290-associated ciliopathies; affected individuals usually die before or shortly after ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. NPHP1 gene 
    ... features; such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  4. Nephronophthisis 
    ... these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  5. Bardet-Biedl syndrome 
    ... Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. ... Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar;119(3):428- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. Asphyxiating thoracic dystrophy 
    ... of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused ... dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5): ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  7. Joubert syndrome 
    ... sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss, and coloboma, ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  8. Mainzer-Saldino syndrome 
    ... cilia and involve bone abnormalities are called skeletal ciliopathies.While IFT140 gene mutations are believed to account ... V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  9. IFT140 gene 
    ... cilia and involve bone abnormalities are called skeletal ciliopathies. More About This Health Condition MedlinePlus Genetics provides ... V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  10. IFT122 gene 
    ... Kuss AW. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am ...
    https://medlineplus.gov/genetics/gene/ift122 - Genetics
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