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Retinitis Pigmentosa

More information in Books or onNLM PubMed
Definition: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.     
See Also Tangier Disease
Examples Alstrom Syndrome 		Other names Tapetoretinal Degeneration; Rod-Cone Dystrophy; Pigmentary Retinopathy; Tapetoretinal Degenerations; Rod-Cone Dystrophies; Rod Cone Dystrophy; Retinopathy, Pigmentary; Retinopathies, Pigmentary; Pigmentary Retinopathies; Dystrophy, Rod-Cone; Dystrophy, Rod Cone; Dystrophy, Cone-Rod; Dystrophies, Rod-Cone; Dystrophies, Rod Cone; Dystrophies, Cone-Rod; Degenerations, Tapetoretinal; Degenerations, Cone-Rod; Degeneration, Tapetoretinal; Degeneration, Cone-Rod; Cone-Rod Dystrophies
 
SubstanceCAS Registry & nameCategoriesSource
FAM161A protein, human  0   *Eye Proteins Retinitis Pigmentosa. Am J Hum Genet 2010 Sep 10;87(3):376-81
Rp1L1 protein, mouse  0   *Eye Proteins Retinitis Pigmentosa. J Neurosci. 2009 Aug 5;29(31):9748-60
Mirhosseini-Holmes-Walton syndrome  0   *Intellectual Disability *Microcephaly *Retinitis Pigmentosa.
Retinitis pigmentosa 1  0   *Retinitis Pigmentosa.
Retinal cone dystrophy 2  0   *Retinitis Pigmentosa.
Furukawa Takagi Nakao syndrome  0   *Cerebellar Ataxia *Diabetes Mellitus *Muscular Atrophy *Retinitis Pigmentosa.
Chang Davidson Carlson syndrome  0   *Hypogonadism *Retinitis Pigmentosa.
RHYNS syndrome  0   *Hypopituitarism *Retinitis Pigmentosa.
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa  0   *Bone Diseases, Developmental *Growth Disorders *Retinitis Pigmentosa *Scoliosis.
Senior-Loken syndrome 4  0   *Retinitis Pigmentosa *Kidney Diseases, Cystic.
Neuropathy ataxia and retinis pigmentosa  0   *Retinitis Pigmentosa *Mitochondrial Myopathies.
Flynn Aird syndrome  0   *Cataract *Central Nervous System Diseases *Dental Caries *Hearing Loss, Sensorineural *Joint Diseases *Retinitis Pigmentosa *Skin Diseases. J Neurol Sci 2(2):161-82
Aldred syndrome  0   *Retinitis Pigmentosa *Mental Retardation, X-Linked.
Amaurosis hypertrichosis  0   *Hypertrichosis *Retinitis Pigmentosa *Leber Congenital Amaurosis.
Bork Stender Schmidt syndrome  0   *Retinitis Pigmentosa *Tooth Diseases *Brachydactyly Hair/abnormalities.
Oliver-McFarlane syndrome  0   *Blepharoptosis *Dwarfism *Hypertrichosis *Intellectual Disability *Retinitis Pigmentosa Developmental Disabilities.
Posterior column ataxia with retinitis pigmentosa  0   *Ataxia *Retinitis Pigmentosa.
Radioulnar synostosis retinal pigment abnormalities  0   *Growth Disorders *Intellectual Disability *Retinitis Pigmentosa *Synostosis *Facies. Genet Couns. 1991;2(4):237-40
Cone rod dystrophy amelogenesis imperfecta  0   *Amelogenesis Imperfecta *Retinitis Pigmentosa.
Cone dystrophy, x-linked, with tapetal-like sheen  0   *Retinitis Pigmentosa *Genetic Diseases, X-Linked.
Hardikar syndrome  0   *Cholestasis *Cleft Palate *Retinitis Pigmentosa.
Mainzer-Saldino Disease  0   *Cerebellar Ataxia *Retinitis Pigmentosa.
SRPX protein, human  0   *Membrane Proteins Retinitis Pigmentosa.
RP1L1 protein, human  0   *Eye Proteins Retinitis Pigmentosa. Mol Vis 2003 Apr 24;9:129-37
RP1 protein, human  0   *Eye Proteins Retinitis Pigmentosa. Nat Genet 1999 Jul;22(3):255-9
RP2 protein, human  0   *Eye Proteins *Membrane Proteins *Intracellular Signaling Peptides and Proteins Microtubules Retinitis Pigmentosa. Mol Biol Evol 1991;8(5):641

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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