Aliases & Classifications for Pigmentary Retinopathy

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Pigmentary Retinopathy, Aliases & Descriptions:

Name: Pigmentary Retinopathy 41
 
Retinitis Pigmentosa 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Summaries for Pigmentary Retinopathy

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

MalaCards based summary: Pigmentary Retinopathy, also known as retinitis pigmentosa, is related to retinitis and bardet-biedl syndrome. An important gene associated with Pigmentary Retinopathy is IMPG2 (interphotoreceptor matrix proteoglycan 2), and among its related pathways are Vitamin A and carotenoid metabolism and Retinol metabolism. The compounds 11-cis-retinol and retinoid have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related mouse phenotypes are hearing/vestibular/ear and cardiovascular system.

Related Diseases for Pigmentary Retinopathy

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Diseases related to Pigmentary Retinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.2RHO
2bardet-biedl syndrome30.6BBS2, BBS10, BBS4
3retinal degeneration28.0TULP1, MFRP, USH2A, PRPH2, PRCD, BEST1
4bardet-biedl syndrome 410.5BBS4
5kearns-sayre syndrome10.5
6bardet-biedl syndrome 1010.5BBS10
7hardikar syndrome10.4
8stargardt disease 110.4ROM1
9best vitelliform macular dystrophy10.3BEST1
10ophthalmoplegia10.3
11mental retardation10.3
12stargardt disease10.2CRX, RHO
13neurodegeneration with brain iron accumulation 110.2
143-hydroxyacyl-coa dehydrogenase deficiency10.2
15cockayne syndrome, type a10.2
16retinitis pigmentosa10.2
17ophthalmomyiasis10.2
18cholestasis10.2
19chronic progressive external ophthalmoplegia10.2
20dystonia10.2
21hypogonadism10.2
22retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.2
23fundus albipunctatus10.2RHO, PRPH2
24congenital stationary night blindness10.2RPE65, PDE6B, RHO
25peripheral retinal degeneration10.2ROM1
26polydactyly10.2BBS4, BBS10, BBS2
27macular dystrophy, vitelliform, 310.2BEST1, PRPH2
28night blindness10.2RPE65, PDE6B, RHO
29blindness10.1RHO, CRX, PDE6B, RPE65
30obesity10.1BBS4, BBS2, TULP1
31methylmalonic aciduria and homocystinuria, cblc type10.1
32leber congenital amaurosis 210.1
33retinitis pigmentosa 1910.1
34pigmented paravenous chorioretinal atrophy10.1
35retinitis pigmentosa 3910.1
36mitochondrial complex iv deficiency10.1
37retinitis pigmentosa 5810.1
38retinitis pigmentosa 5410.1
39trifunctional protein deficiency10.1
40retinitis pigmentosa 2810.1
41alstrom syndrome10.1
42retinitis pigmentosa 3310.1
43leigh syndrome10.1
44spinocerebellar ataxia 710.1
45night blindness, congenital stationary, autosomal dominant 110.1
46retinitis pigmentosa 6110.1
47alpha-methylacyl-coa racemase deficiency10.1
48retinitis pigmentosa 4310.1
49retinitis pigmentosa 2510.1
50retinitis pigmentosa 910.1

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



Diseases related to pigmentary retinopathy

Symptoms for Pigmentary Retinopathy

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Drugs & Therapeutics for Pigmentary Retinopathy

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Drug clinical trials:

Search ClinicalTrials for Pigmentary Retinopathy

Search NIH Clinical Center for Pigmentary Retinopathy

Genetic Tests for Pigmentary Retinopathy

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Anatomical Context for Pigmentary Retinopathy

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MalaCards organs/tissues related to Pigmentary Retinopathy:

31
Bone, Eye, Retina, Heart, Liver, Ovary, Testes

Animal Models for Pigmentary Retinopathy or affiliated genes

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MGI Mouse Phenotypes related to Pigmentary Retinopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4PDE6B, BBS4, USH2A, TULP1
2MP:00053858.6TULP1, PRPH2, BBS4, ROM1, PDE6B, CRX
3MP:00011868.3TULP1, MFRP, PRPH2, BEST1, BBS4, RPE65
4MP:00036317.5BBS2, PRPH2, USH2A, MFRP, TULP1, BBS4
5MP:00053917.4RDH12, TULP1, MFRP, USH2A, PRPH2, BEST1

Publications for Pigmentary Retinopathy

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Articles related to Pigmentary Retinopathy:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Petaloid-pattern pigmentary retinopathy: a novel case report. (24510016)
2014
2
Disease course of patients with unilateral pigmentary retinopathy. (21989720)
2011
3
Presumed Atypical HDR Syndrome Associated with Band Keratopathy and Pigmentary Retinopathy. (19645385)
2009
4
Retention of the cyanobacterial neurotoxin beta-N-methylamino-l-alanine in melanin and neuromelanin-containing cells--a possible link between Parkinson-dementia complex and pigmentary retinopathy. (19154235)
2009
5
Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment. (12642318)
2003
6
Ophthalmomyiasis-like pigmentary retinopathy in ALS/PDC in the Kii peninsula of Japan. (12771286)
2003
7
Diagnostic and therapeutic challenges. Pediatric pigmentary retinopathy. (12824841)
2003
8
A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. (12401990)
2002
9
Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA. (12397426)
2002
10
Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]. (11139690)
2000
11
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)
2000
12
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? (9823492)
1998
13
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy. (9427163)
1997
14
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (9535636)
1997
15
Associated ocular findings in pericentral pigmentary retinopathy. (9088414)
1997
16
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. (9339682)
1997
17
Investigations of antiretinal antibodies in pigmentary retinopathy and other retinal degenerations. (8981696)
1996
18
Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome? (8723069)
1996
19
A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. (8521624)
1995
20
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. (8456839)
1993
21
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? (1519643)
1992
22
Systemic associations of pigmentary retinopathy. (1880001)
1991
23
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. (2191234)
1990
24
A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. (2392218)
1990
25
Autosomal recessive pericentral pigmentary retinopathy. (2597243)
1989
26
Autosomal recessive pericentral pigmentary retinopathy. (3189470)
1988
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
Hereditary progressive dystonia with marked diurnal fluctuation in a family with pigmentary retinopathy. (3825618)
1986
29
Statistical evaluation of visual functions in dominant and recessive autosomal pigmentary retinopathy. (3698795)
1986
30
Ultrastructural study of primary canine and human pigmentary retinopathy. (4058869)
1985
31
Sex-linked pigmentary retinopathy (P.R.). (6545395)
1984
32
Sectorial pigmentary retinopathy associated with head trauma. (6601912)
1983
33
Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. (6829683)
1983
34
Pigmentary retinopathy, hearing loss, mental retardation, and dysmorphism in sibs: a new syndrome? (7139098)
1982
35
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. (7162786)
1982
36
Traumatic pigmentary retinopathy. (7304688)
1981
37
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
38
Electrophysiological studies on a case of thioridazine pigmentary retinopathy. (1232704)
1975
39
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975
40
Thioridazine pigmentary retinopathy. (4729780)
1973
41
Detection of heterozygotes in families with X-linked pigmentary retinopathy by measurement of retinal rhodopsin concentration. (4515512)
1972
42
Symposium: pigmentary retinopathy summing-up. (4577653)
1972
43
Pigmentary retinopathy associated with metabolic defects. (4123897)
1972
44
Visual functions in pericentral and central pigmentary retinopathy. (4538423)
1972
45
ERG and EOG in pericentral pigmentary retinopathy. (5156823)
1971
46
Pigmentary retinopathy associated with thioridazine administration. (5151895)
1971
47
Agents which cause pigmentary retinopathy. (5672558)
1968
48
Pigmentary retinopathy following maternal measles (morbilli) infection. (5727648)
1968
49
Five cases of pigmentary retinopathy associated with thioridazine administration. (5935198)
1966
50
Pigmentary retinopathy in patients receiving high doses of a new phenothiazine. (13843390)
1960

Variations for Pigmentary Retinopathy

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Clinvar genetic disease variations for Pigmentary Retinopathy:

6 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicGRCh37Chr 4, 654392: 654392
6PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicGRCh37Chr 6, 42689663: 42689663
7PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicGRCh37Chr 6, 42689574: 42689574
8ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicGRCh38Chr 11, 62613612: 62613612
9RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicGRCh37Chr 3, 129249877: 129249877
10RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicGRCh37Chr 3, 129251125: 129251125
11CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicGRCh38Chr 19, 47836335: 47836335
12PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicGRCh37Chr 17, 74536225: 74536225
13EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicGRCh38Chr 6, 64590910: 64590910
14EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicGRCh37Chr 6, 64791763: 64791763
15EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicGRCh37Chr 6, 64488004: 64488004
16EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64472506: 64472506
17EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64431122: 64431122
18EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicGRCh37Chr 6, 64430718: 64430718
19BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicGRCh38Chr 11, 61958194: 61958194
20TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicGRCh37Chr 9, 32541966: 32541969
21SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicGRCh37Chr 2, 96958828: 96958828
22SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicGRCh37Chr 2, 96958823: 96958823
23IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicGRCh37Chr 3, 100949961: 100949961
24NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicGRCh37Chr 14, 68196025: 68196025
25USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicGRCh37Chr 1, 215956121: 215956121
26USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215807865: 215807865
27USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicGRCh37Chr 1, 216419934: 216419934
28USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215972456: 215972456
29RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
30USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
31USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
32USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
33USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
34TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
35PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
36RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Pigmentary Retinopathy

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Search GEO for disease gene expression data for Pigmentary Retinopathy.

Pathways for genes affiliated with Pigmentary Retinopathy

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Compounds for genes affiliated with Pigmentary Retinopathy

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Pigmentary Retinopathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
111-cis-retinol43 2411.0RHO, RPE65
2retinoid439.9RHO, CRX, RPE65
3vitamin a43 24 1211.7RDH12, RHO, RPE65

GO Terms for genes affiliated with Pigmentary Retinopathy

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Cellular components related to Pigmentary Retinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.4RDH12, RHO
2photoreceptor disc membraneGO:009738110.2RHO, PDE6B
3photoreceptor outer segment membraneGO:004262210.2ROM1, RHO
4photoreceptor inner segmentGO:000191710.0RHO, TULP1
5BBSomeGO:003446410.0BBS2, BBS4
6photoreceptor outer segmentGO:00017509.9RHO, TULP1
7motile ciliumGO:00315149.8BBS4, BBS2
8ciliary basal bodyGO:00360649.7BBS4, BBS2, TOPORS
9ciliary membraneGO:00601709.5BBS4, BBS2

Biological processes related to Pigmentary Retinopathy according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulus involved in visual perceptionGO:005090810.3EYS, BEST1
2regulation of rhodopsin mediated signaling pathwayGO:002240010.3RHO, PDE6B
3retinoid metabolic processGO:000152310.3RPE65, RHO, RDH12
4retinal rod cell developmentGO:004654810.2BBS4, TOPORS
5maintenance of protein location in nucleusGO:005145710.1BBS4, TOPORS
6rhodopsin mediated signaling pathwayGO:001605610.1RHO, PDE6B
7negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.1BBS2, BBS4
8regulation of cilium beat frequency involved in ciliary motilityGO:006029610.1BBS4, BBS2
9phototransduction, visible lightGO:000760310.1RPE65, PDE6B, RHO, RDH12
10striatum developmentGO:002175610.1BBS2, BBS4
11protein localization to organelleGO:003336510.0BBS4, BBS2
12brain morphogenesisGO:004885410.0BBS4, BBS2
13melanosome transportGO:003240210.0BBS2, BBS4
14adult behaviorGO:003053410.0BBS4, BBS2
15positive regulation of multicellular organism growthGO:00400189.9BBS2, BBS4
16dendrite developmentGO:00163589.9TULP1, BBS4
17cerebral cortex developmentGO:00219879.8BBS4, BBS2
18retina development in camera-type eyeGO:00600419.8TULP1, PRPH2, PDE6B, CRX, RHO
19response to stimulusGO:00508969.7USH2A, PRCD, BBS10, CRX
20nonmotile primary cilium assemblyGO:00350589.7BBS4, BBS10, BBS2
21retina homeostasisGO:00018959.6BBS10, BBS4
22hippocampus developmentGO:00217669.5BBS4, BBS2
23photoreceptor cell maintenanceGO:00454949.0TULP1, USH2A, BBS2, BBS10, BBS4, RDH12
24visual perceptionGO:00076017.3IMPG2, TULP1, USH2A, PRPH2, PRCD, BEST1

Molecular functions related to Pigmentary Retinopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:00011039.4BBS4, BBS10, BBS2

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet