MCID: PGM009
MIFTS: 27

Pigmentary Retinopathy malady

Summaries for Pigmentary Retinopathy

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63Wikipedia, 32MalaCards
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Wikipedia:63 Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment... more...

MalaCards: Pigmentary Retinopathy is related to retinal disease and retinal degeneration. An important gene associated with Pigmentary Retinopathy is BBS2 (Bardet-Biedl syndrome 2), and among its related pathways are Visual phototransduction and Visual Cycle in Retinal Rods. The compound 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are adipose tissue and pigmentation.

Aliases & Classifications for Pigmentary Retinopathy

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42NIH Rare Diseases
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Aliases & Descriptions:

pigmentary retinopathy 42


Related Diseases for Pigmentary Retinopathy

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17GeneCards, 18GeneDecks
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Diseases related to Pigmentary Retinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1retinal disease30.0PRPH2, RS1, CACNA1F, GUCA1B, RPE65
2retinal degeneration30.0BBS4, RPE65, PDE6G, MFRP, GUCA1B, PRCD
3bardet-biedl syndrome30.0BBS12, MKS1, TRIM32, ARL6, BBS10, BBS4
4rhyns syndrome30.0RS1, RGR, PRPH2, GUCA1B, BBS4, BBS2
5kearns-sayre syndrome10.4
6ophthalmoplegia10.3
7retinitis10.3
8hardikar syndrome10.3
9ophthalmomyiasis10.2
10cleft palate10.2
11cholestasis10.2
12chronic progressive external ophthalmoplegia10.2
13diabetic retinopathy10.2
14familial dystonia10.2
15hypogonadism10.2
16retinopathy of prematurity10.0
17cockayne syndrome10.0
18acanthosis nigricans10.0
19cycloplegia10.0
20nephronophthisis10.0
21band keratopathy10.0
22congenital adrenal insufficiency10.0
23senior-loken syndrome10.0
24retinitis pigmentosa10.0
25blepharospasm10.0
26cleft lip10.0
27conduct disorder10.0
28glucose intolerance10.0
29measles10.0
30pantothenate kinase-associated neurodegeneration10.0
31atherosclerosis10.0
32choroideremia10.0
33dementia10.0
34diabetes mellitus10.0
35hypertrichosis10.0
36keratopathy10.0
37myotonic dystrophy10.0
38nephrotic syndrome10.0
39polyneuropathy10.0
40toxoplasmosis10.0
41neurologic diseases10.0
42maternally inherited diabetes and deafness10.0
43cerebro-oculo-facio-skeletal syndrome10.0
44cockayne syndrome type i10.0
45retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.0
46lchad deficiency10.0
47usher syndrome, type 1c10.0
48usher syndrome, type 1f10.0
49microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.0
50cerebrooculofacioskeletal syndrome 410.0

Graphical network of the top 20 diseases related to Pigmentary Retinopathy:



Diseases related to pigmentary retinopathy

Clinical Features for Pigmentary Retinopathy

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Drugs & Therapeutics for Pigmentary Retinopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pigmentary Retinopathy

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Anatomical Context for Pigmentary Retinopathy

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32MalaCards
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MalaCards organs/tissues related to Pigmentary Retinopathy:

32
Eye

Animal Models for Pigmentary Retinopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pigmentary Retinopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.2BBS12, BBS2, AMACR, ARL6, BBS4
2MP:000118610.0MFRP, RS1, PRPH2, BBS4, RPE65
3MP:00053919.8RS1, RGR, MKS1, PRPH2, ARL6, GUCA1B
4MP:00036319.8RS1, PDE6G, CACNA1F, RPE65, BBS2, BBS12

Publications for Pigmentary Retinopathy

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Genetic Variations for Pigmentary Retinopathy

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Expression for genes affiliated with Pigmentary Retinopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pigmentary Retinopathy

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Pathways for genes affiliated with Pigmentary Retinopathy

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53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Pigmentary Retinopathy

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44Novoseek, 24HMDB
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Compounds related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2411.4RGR, RPE65

GO Terms for genes affiliated with Pigmentary Retinopathy

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16Gene Ontology
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Cellular components related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:09738110.4GUCA1B, PDE6G
2BBSomeGO:03446410.3BBS4, BBS2, ARL6
3microtubule basal bodyGO:00593210.2MKS1, BBS4, BBS2, ARL6
4cilium membraneGO:06017010.0ARL6, BBS2, BBS4

Biological processes related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.7BBS4, BBS2
2regulation of cilium beat frequency involved in ciliary motilityGO:06029610.7BBS2, BBS4
3photoreceptor cell maintenanceGO:04549410.7BBS2, BBS10, BBS4
4melanosome transportGO:03240210.7ARL6, BBS2, BBS4
5nonmotile primary cilium assemblyGO:03505810.7BBS10, BBS4
6cilium morphogenesisGO:06027110.6MKS1, BBS2, BBS4
7retina homeostasisGO:00189510.6BBS4, BBS10
8fat cell differentiationGO:04544410.6BBS4, BBS2, ARL6, TRIM32
9striatum developmentGO:02175610.6BBS2, BBS4
10retina development in camera-type eyeGO:06004110.6CACNA1F, PRPH2, ZNF513
11response to stimulusGO:05089610.6ZNF513, PRCD, BBS10
12chaperone-mediated protein complex assemblyGO:05113110.5BBS12, BBS10
13cilium assemblyGO:04238410.5MKS1, ARL6, BBS4
14brain morphogenesisGO:04885410.5BBS2, BBS4
15phototransduction, visible lightGO:00760310.5RPE65, PDE6G, GUCA1B
16protein localization to organelleGO:03336510.5BBS2, BBS4
17adult behaviorGO:03053410.4BBS4, BBS2
18rhodopsin mediated signaling pathwayGO:01605610.4GUCA1B, PDE6G
19regulation of rhodopsin mediated signaling pathwayGO:02240010.3GUCA1B, PDE6G
20visual perceptionGO:00760110.2RS1, BBS4, BBS10, BBS2, RPE65, CACNA1F
21positive regulation of multicellular organism growthGO:04001810.1BBS2, BBS4

Products for genes affiliated with Pigmentary Retinopathy

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Sources for Pigmentary Retinopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet