MCID: PGM009
MIFTS: 34

Pigmentary Retinopathy malady

Rare diseases category

Summaries for Pigmentary Retinopathy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment... more...

MalaCards: Pigmentary Retinopathy is related to retinal degeneration and rhyns syndrome. An important gene associated with Pigmentary Retinopathy is AMACR (alpha-methylacyl-CoA racemase). Affiliated tissues include eye, bone and heart, and related mouse phenotypes are taste/olfaction and liver/biliary system.

Aliases & Classifications for Pigmentary Retinopathy

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44NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

pigmentary retinopathy 44


Related Diseases for Pigmentary Retinopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Pigmentary Retinopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration30.1BBS4, MFRP
2rhyns syndrome30.0BBS4, BBS2, MFRP
3bardet-biedl syndrome29.9BBS2, BBS12, BBS10, BBS4
4kearns-sayre syndrome10.4
5hardikar syndrome10.4
6ophthalmoplegia10.3
7retinitis10.3
8mental retardation10.3
9ophthalmomyiasis10.2
10cholestasis10.2
11chronic progressive external ophthalmoplegia10.2
12dystonia10.2
13hypogonadism10.2
143-hydroxyacyl-coa dehydrogenase deficiency10.2
15bardet-biedl syndrome 410.1BBS4
16cockayne syndrome10.1
17cleft lip10.1
18blepharospasm10.1
19retinitis pigmentosa10.1
20glucose intolerance10.1
21cleft palate10.1
22measles10.1
23acanthosis nigricans10.1
24cycloplegia10.1
25nephronophthisis10.1
26band keratopathy10.1
27congenital adrenal insufficiency10.1
28senior-loken syndrome10.1
29pantothenate kinase-associated neurodegeneration10.1
30atherosclerosis10.1
31choroideremia10.1
32dementia10.1
33diabetes mellitus10.1
34hypertrichosis10.1
35keratopathy10.1
36myotonic dystrophy10.1
37nephrotic syndrome10.1
38polyneuropathy10.1
39toxoplasmosis10.1
40neurologic diseases10.1
41acanthocytosis10.1
42cerebro-oculo-facio-skeletal syndrome10.1
43cockayne syndrome type i10.1
44growth hormone deficiency10.1
45lchad deficiency10.1
46maternally inherited diabetes and deafness10.1
47ocular toxoplasmosis10.1
48retinitis pigmentosa, deafness, mental retardation, and hypogonadism10.1
49usher syndrome, type 1f10.1
503-hydroxyacyl-coenzyme a dehydrogenase deficiency10.1

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Pigmentary Retinopathy:

34
Eye, Bone, Heart, Liver, Ovary, Testes

Animal Models for Pigmentary Retinopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pigmentary Retinopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5BBS4, BBS2
2MP:00053709.0AMACR, BBS2, BBS4
3MP:00053758.7BBS4, BBS12, BBS2, AMACR
4MP:00053678.7BBS4, BBS12, BBS2
5MP:00053918.4MFRP, BBS2, BBS12, BBS4
6MP:00036318.4BBS4, BBS12, BBS2, MFRP

Publications for Pigmentary Retinopathy

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53PubMed
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Articles related to Pigmentary Retinopathy:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Disease course of patients with unilateral pigmentary retinopathy. (21989720)
2011
2
Presumed Atypical HDR Syndrome Associated with Band Keratopathy and Pigmentary Retinopathy. (19645385)
2009
3
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
4
Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment. (12642318)
2003
5
Ophthalmomyiasis-like pigmentary retinopathy in ALS/PDC in the Kii peninsula of Japan. (12771286)
2003
6
Diagnostic and therapeutic challenges. Pediatric pigmentary retinopathy. (12824841)
2003
7
A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. (12401990)
2002
8
Pigmentary retinopathy in patients with the MELAS mutation 3243A-->G in mitochondrial DNA. (12397426)
2002
9
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. (11040918)
2000
10
Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? (9823492)
1998
11
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy. (9427163)
1997
12
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (9535636)
1997
13
Associated ocular findings in pericentral pigmentary retinopathy. (9088414)
1997
14
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation. (9339682)
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
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. (8456839)
1993
19
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? (1519643)
1992
20
Systemic associations of pigmentary retinopathy. (1880001)
1991
21
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. (2191234)
1990
22
A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. (2392218)
1990
23
Autosomal recessive pericentral pigmentary retinopathy. (2597243)
1989
24
Autosomal recessive pericentral pigmentary retinopathy. (3189470)
1988
25
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. (2846958)
1988
26
Hereditary progressive dystonia with marked diurnal fluctuation in a family with pigmentary retinopathy. (3825618)
1986
27
Statistical evaluation of visual functions in dominant and recessive autosomal pigmentary retinopathy. (3698795)
1986
28
Ultrastructural study of primary canine and human pigmentary retinopathy. (4058869)
1985
29
Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis. (3896611)
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
Pigmentary retinopathy, hearing loss, mental retardation, and dysmorphism in sibs: a new syndrome? (7139098)
1982
34
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. (7162786)
1982
35
Traumatic pigmentary retinopathy. (7304688)
1981
36
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
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
Thioridazine pigmentary retinopathy. (4729780)
1973
40
Detection of heterozygotes in families with X-linked pigmentary retinopathy by measurement of retinal rhodopsin concentration. (4515512)
1972
41
Symposium: pigmentary retinopathy summing-up. (4577653)
1972
42
Pigmentary retinopathy associated with metabolic defects. (4123897)
1972
43
Visual functions in pericentral and central pigmentary retinopathy. (4538423)
1972
44
ERG and EOG in pericentral pigmentary retinopathy. (5156823)
1971
45
Pigmentary retinopathy associated with thioridazine administration. (5151895)
1971
46
Agents which cause pigmentary retinopathy. (5672558)
1968
47
Pigmentary retinopathy following maternal measles (morbilli) infection. (5727648)
1968
48
Five cases of pigmentary retinopathy associated with thioridazine administration. (5935198)
1966
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

Variations for Pigmentary Retinopathy

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Expression for genes affiliated with Pigmentary Retinopathy

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Pigmentary Retinopathy

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GO Terms for genes affiliated with Pigmentary Retinopathy

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17Gene Ontology
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Cellular components related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:0344649.6BBS4, BBS2
2ciliary membraneGO:0601709.5BBS4, BBS2
3ciliary basal bodyGO:0360649.4BBS2, BBS4
4motile ciliumGO:0315149.2BBS4, BBS2
5ciliumGO:0059299.1BBS10, BBS12

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of appetite by leptin-mediated signaling pathwayGO:0381089.8BBS4, BBS2
2regulation of cilium beat frequency involved in ciliary motilityGO:0602969.8BBS4, BBS2
3striatum developmentGO:0217569.8BBS2, BBS4
4protein localization to organelleGO:0333659.8BBS4, BBS2
5brain morphogenesisGO:0488549.7BBS2, BBS4
6melanosome transportGO:0324029.7BBS4, BBS2
7adult behaviorGO:0305349.7BBS4, BBS2
8positive regulation of multicellular organism growthGO:0400189.6BBS2, BBS4
9hippocampus developmentGO:0217669.6BBS2, BBS4
10cerebral cortex developmentGO:0219879.5BBS4, BBS2
11negative regulation of gene expressionGO:0106299.5BBS4, BBS2
12chaperone-mediated protein complex assemblyGO:0511319.4BBS10, BBS12
13cilium morphogenesisGO:0602719.4BBS4, BBS2
14retina homeostasisGO:0018959.2BBS4, BBS10
15fat cell differentiationGO:0454449.2BBS4, BBS2
16nonmotile primary cilium assemblyGO:0350589.0BBS4, BBS10, BBS2
17photoreceptor cell maintenanceGO:0454949.0BBS2, BBS10, BBS4
18visual perceptionGO:0076018.9BBS4, BBS10, BBS2

Molecular functions related to Pigmentary Retinopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:0011038.7BBS4, BBS10, BBS2

Products for genes affiliated with Pigmentary Retinopathy

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Sources for Pigmentary Retinopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet