MCID: PGM009
MIFTS: 35

Pigmentary Retinopathy malady

Summaries for Pigmentary Retinopathy

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64Wikipedia, 33MalaCards
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Wikipedia:64 Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment... more...

MalaCards: Pigmentary Retinopathy is related to bardet-biedl syndrome and rhyns syndrome. 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 heart, liver and ovary, and related mouse phenotypes are adipose tissue and pigmentation.

Aliases & Classifications for Pigmentary Retinopathy

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43NIH Rare Diseases
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Aliases & Descriptions:

pigmentary retinopathy 43


Related Diseases for Pigmentary Retinopathy

Sources:
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 60)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.0BBS4, BBS10, BBS12, BBS2, ARL6, TRIM32
2rhyns syndrome30.0BBS4, BBS2, RPE65, PDE6G, MFRP, GUCA1B
3kearns-sayre syndrome10.4
4n syndrome10.4
5hardikar syndrome10.4
6say syndrome10.4
7retinopathy pigmentary mental retardation10.3
8mental retardation10.3
9ophthalmomyiasis10.2
10cleft palate10.2
11micro syndrome10.2
12familial deafness10.2
13cockayne syndrome10.1
14acanthosis nigricans10.1
15cycloplegia10.1
16nephronophthisis10.1
17band keratopathy10.1
18congenital adrenal insufficiency10.1
19senior-loken syndrome10.1
20retinitis pigmentosa10.1
21blepharospasm10.1
22conduct disorder10.1
23glucose intolerance10.1
24measles10.1
25pantothenate kinase-associated neurodegeneration10.1
26atherosclerosis10.1
27toxoplasmosis10.1
28neurologic diseases10.1
29char syndrome10.1
30acanthocytosis10.1
31maternally inherited diabetes and deafness10.1
32cerebro-oculo-facio-skeletal syndrome10.1
33cockayne syndrome type i10.1
34deafness hypogonadism syndrome10.1
35diabetes hypogonadism deafness mental retardation10.1
36growth hormone deficiency10.1
37retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.1
38lchad deficiency10.1
39ocular toxoplasmosis10.1
40usher syndrome, type 1c10.1
41usher syndrome, type 1f10.1
42microcephaly with or without chorioretinopathy, lymphedema, or mental retardation10.1
43cerebrooculofacioskeletal syndrome 410.1
44cerebrooculofacioskeletal syndrome 210.1
45cleft hard palate10.1
46blindness10.0RPE65, RS1
47fundus albipunctatus10.0CACNA1F
48bardet-biedl syndrome 1210.0BBS12
49fundus dystrophy10.0BBS4, BBS12, BBS2, RPE65, ARL6
50hyperopia10.0MFRP, CACNA1F

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



Diseases related to pigmentary retinopathy

Clinical Features for Pigmentary Retinopathy

Drugs & Therapeutics for Pigmentary Retinopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pigmentary Retinopathy

Drug clinical trials:

Search ClinicalTrials for Pigmentary Retinopathy

Search NIH Clinical Center for Pigmentary Retinopathy

Search CenterWatch for Pigmentary Retinopathy

Genetic Tests for Pigmentary Retinopathy

Anatomical Context for Pigmentary Retinopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Pigmentary Retinopathy:

33
Heart, Liver, Ovary

Animal Models for Pigmentary Retinopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Pigmentary Retinopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.2ARL6, AMACR, BBS2, BBS12, BBS4
2MP:000118610.0BBS4, RPE65, MFRP, PRPH2, RS1
3MP:00053919.8RS1, BBS4, BBS12, BBS2, RPE65, CACNA1F
4MP:00036319.8CACNA1F, RPE65, BBS2, BBS12, BBS4, PDE6G

Publications for Pigmentary Retinopathy

Sources:
51PubMed
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Articles related to Pigmentary Retinopathy:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Disease course of patients with unilateral pigmentary retinopathy. (21989720)
2011
2
Posterior microphthalmos pigmentary retinopathy syndrome. (21416382)
2011
3
Presumed Atypical HDR Syndrome Associated with Band Keratopathy and Pigmentary Retinopathy. (19645385)
2009
4
Pericentral pigmentary retinopathy: long-term follow-up. (16456588)
2006
5
Pigmentary retinopathy of ALS/PDC in Kii. (17074574)
2006
6
Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment. (12642318)
2003
7
Ophthalmomyiasis-like pigmentary retinopathy in ALS/PDC in the Kii peninsula of Japan. (12771286)
2003
8
Diagnostic and therapeutic challenges. Pediatric pigmentary retinopathy. (12824841)
2003
9
A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. (12401990)
2002
10
Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA. (12397426)
2002
11
Pigmentary retinopathy associated with intravitreal fomivirsen. (12049600)
2002
12
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)
2000
13
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. (9339682)
1997
14
Ophthalmomyiasis interna posterior and pigmentary retinopathy of Guam. (9280754)
1997
15
Investigations of antiretinal antibodies in pigmentary retinopathy and other retinal degenerations. (8981696)
1996
16
Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome? (8723069)
1996
17
A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. (8521624)
1995
18
Pigmentary retinopathy with nephrotic syndrome, MAcnActrier's disease, and diabetes mellitus. (7827384)
1994
19
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. (8456839)
1993
20
Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy. (8423892)
1993
21
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? (1519643)
1992
22
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. (1537353)
1992
23
Systemic associations of pigmentary retinopathy. (1880001)
1991
24
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. (2191234)
1990
25
A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. (2392218)
1990
26
Autosomal recessive pericentral pigmentary retinopathy. (2597243)
1989
27
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. (2846958)
1988
28
Statistical evaluation of visual functions in dominant and recessive autosomal pigmentary retinopathy. (3698795)
1986
29
Pigmentary retinopathy associated with low-dose thioridazine treatment. (3978494)
1985
30
Sex-linked pigmentary retinopathy (P.R.). (6545395)
1984
31
Sectorial pigmentary retinopathy associated with head trauma. (6601912)
1983
32
Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. (6829683)
1983
33
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. (7162786)
1982
34
Traumatic pigmentary retinopathy. (7304688)
1981
35
Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. (506943)
1979
36
A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. (1251844)
1976
37
Electrophysiological studies on a case of thioridazine pigmentary retinopathy. (1232704)
1975
38
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
39
Detection of heterozygotes in families with X-linked pigmentary retinopathy by measurement of retinal rhodopsin concentration. (4515512)
1972
40
Symposium: pigmentary retinopathy summing-up. (4577653)
1972
41
Pigmentary retinopathy associated with metabolic defects. (4123897)
1972
42
Visual functions in pericentral and central pigmentary retinopathy. (4538423)
1972
43
The value of electrodiagnostic tests in pigmentary retinopathy. (4197852)
1972
44
Pigmentary retinopathy in cases of chronic progressive external ophthalmoplegia. Visual sensory aspects. (4541520)
1972
45
ERG and EOG in pericentral pigmentary retinopathy. (5156823)
1971
46
Pigmentary retinopathy following maternal measles (morbilli) infection. (5727648)
1968
47
Five cases of pigmentary retinopathy associated with thioridazine administration. (5935198)
1966
48
PIGMENTARY RETINOPATHY ASSOCIATED WITH THIORIDAZINE: REPORT OF A CASE WITH A MAXIMUM DAILY DOSE OF 1400 MGM. (14129300)
1964
49
Pigmentary retinopathy and irido-cycloplegia in psychiatric patients. (14490838)
1962
50
Pigmentary retinopathy in patients receiving high doses of a new phenothiazine. (13843390)
1960

Genetic Variations for Pigmentary Retinopathy

Expression for genes affiliated with Pigmentary Retinopathy

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

Search GEO for disease gene expression data for Pigmentary Retinopathy.

Pathways for genes affiliated with Pigmentary Retinopathy

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Pigmentary Retinopathy

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45Novoseek, 24HMDB
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Compounds related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol45 2411.4RGR, RPE65

GO Terms for genes affiliated with Pigmentary Retinopathy

Sources:
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:03446410.3ARL6, BBS2, BBS4
3microtubule basal bodyGO:00593210.2BBS4, BBS2, ARL6, MKS1
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet