RP
MCID: RHY001
MIFTS: 51

Rhyns Syndrome (RP) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases categories
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Summaries for Rhyns Syndrome

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Genetics Home Reference:21 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

MalaCards based summary: Rhyns Syndrome, also known as retinitis pigmentosa syndrome, is related to stargardt disease and blindness, and has symptoms including An important gene associated with Rhyns Syndrome 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 eye and retina, and related mouse phenotypes are cardiovascular system and pigmentation.

Description from OMIM:46 602152

Aliases & Classifications for Rhyns Syndrome

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Sources:
21Genetics Home Reference, 10DISEASES, 44Novoseek, 62UMLS, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Rhyns Syndrome, Aliases & Descriptions:

Name: Rhyns Syndrome 42 48 46 62
Retinitis Pigmentosa Syndrome 42 20 22 62
Retinitis Pigmentosa 21 10 44 62
Cone-Rod Retinal Dystrophy 21 62
Tapetoretinal Degeneration 21 62
 
Pigmentary Retinopathy 21 62
Rod-Cone Dystrophy 21 62
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 42
Retinitis Pigmentosa - Hypopituitarism - Nephronophthisis - Skeletal Dysplasia 48
Rp 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


External Ids:

OMIM46 602152
MESH via Orphanet35 C537612
UMLS via Orphanet63 C1865794

Related Diseases for Rhyns Syndrome

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Diseases related to Rhyns Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 528)
idRelated DiseaseScoreTop Affiliating Genes
1stargardt disease31.1CRX, RHO
2blindness31.0RHO, CRX, PDE6B, RPE65
3night blindness31.0RHO, PDE6B, RPE65
4retinitis30.9RHO
5usher syndrome30.9USH2A, GPR98
6leber congenital amaurosis30.8TULP1, RPE65, CRX, RHO, RDH12
7congenital stationary night blindness30.7RPE65, PDE6B, RHO
8fundus albipunctatus30.6PRPH2, RHO
9fundus flavimaculatus30.5ROM1
10usher syndrome type 2a30.2GPR98, USH2A
11vitelliform macular dystrophy30.2PRPH2, BEST1, ROM1
12cone-rod dystrophy 230.0TULP1, PRPH2, RPE65, CRX, RHO
13fundus dystrophy29.5RDH12, RHO, TULP1, BEST1, RPE65, ROM1
14retinal degeneration29.4TULP1, USH2A, PRPH2, PRCD, BEST1, RPE65
15cone dystrophy11.0
16cystoid macular edema10.7
17neuropathy ataxia retinitis pigmentosa syndrome10.7
18newfoundland rod-cone dystrophy10.6
19ataxia10.6
20retinitis pigmentosa 210.6
21posterior column ataxia with retinitis pigmentosa10.6
22cataract10.6
23microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.6
24cone-rod dystrophy10.5
25choroiditis10.5
26choroideremia10.5
27retinitis pigmentosa 310.5
28macular dystrophy10.5
29posterior column ataxia10.5
30muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
31retinitis pigmentosa 1710.4
32retinitis pigmentosa 910.4
33polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
34x-linked intellectual disability-retinitis pigmentosa syndrome10.4
35retinitis pigmentosa autosomal recessive10.4
36bietti crystalline corneoretinal dystrophy10.4
37refsum disease10.4
38retinitis pigmentosa 1110.4
39mental retardation10.4
40cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness10.4
41hypercalcemia10.4
42bardet-biedl syndrome10.4
43nephronophthisis10.4
44retinitis pigmentosa 1310.4
45retinitis pigmentosa 1410.4
46retinitis pigmentosa 1810.4
47retinitis pigmentosa 1910.4
48retinitis pigmentosa 2010.4
49retinitis pigmentosa 2510.4
50retinitis pigmentosa 2610.4

Graphical network of the top 20 diseases related to Rhyns Syndrome:



Diseases related to rhyns syndrome

Symptoms for Rhyns Syndrome

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Symptoms by clinical synopsis from OMIM:

602152

Clinical features from OMIM:

602152

HPO human phenotypes related to Rhyns Syndrome:

(show all 9)
id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 nephronophthisis HP:0000090
3 conductive hearing impairment HP:0000405
4 deeply set eye HP:0000490
5 ptosis HP:0000508
6 retinitis pigmentosa HP:0000510
7 growth hormone deficiency HP:0000824
8 skeletal dysplasia HP:0002652
9 pituitary hypothyroidism HP:0008245

Drugs & Therapeutics for Rhyns Syndrome

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Drug clinical trials:

Search ClinicalTrials for Rhyns Syndrome

Search NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

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Genetic tests related to Rhyns Syndrome:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa Multi-Gene Panels20
2 Retinitis Pigmentosa20 22 ZNF513

Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

32
Eye, Retina

Animal Models for Rhyns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rhyns Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5RHO, CRX, PDE6B, ROM1, PRPH2, TULP1
2MP:00011868.1TULP1, PRPH2, BEST1, RPE65, PDE6B, CRX
3MP:00053777.9TULP1, GPR98, USH2A, PDE6B
4MP:00036316.4TULP1, GPR98, USH2A, PRPH2, RPE65, ROM1
5MP:00053916.2RDH12, TULP1, GPR98, USH2A, PRPH2, BEST1

Publications for Rhyns Syndrome

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Articles related to Rhyns Syndrome:

idTitleAuthorsYear
1
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. (11391657)
2001

Variations for Rhyns Syndrome

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Clinvar genetic disease variations for Rhyns Syndrome:

6 (show all 12)
id Gene Name 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
5RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
6USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
7USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
8USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
9USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
10TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
11PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
12RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Rhyns Syndrome

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Expression patterns in normal tissues for genes affiliated with Rhyns Syndrome

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Pathways for genes affiliated with Rhyns Syndrome

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Compounds for genes affiliated with Rhyns Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Rhyns Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2410.8RHO, RPE65
2retinoid449.7RHO, CRX, RPE65
3vitamin a44 24 1111.4RDH12, RHO, RPE65

GO Terms for genes affiliated with Rhyns Syndrome

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Cellular components related to Rhyns Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:06034210.1RDH12, RHO
2photoreceptor disc membraneGO:09738110.0RHO, PDE6B
3photoreceptor outer segment membraneGO:0426229.9ROM1, RHO
4photoreceptor outer segmentGO:0017509.7RHO, TULP1
5photoreceptor inner segmentGO:0019179.4RHO, TULP1
6stereocilia ankle link complexGO:0021429.1USH2A, GPR98

Biological processes related to Rhyns Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:01605610.0RHO, PDE6B
2retinoid metabolic processGO:0015239.8RPE65, RHO, RDH12
3regulation of rhodopsin mediated signaling pathwayGO:0224009.7RHO, PDE6B
4phototransduction, visible lightGO:0076039.6RPE65, PDE6B, RHO, RDH12
5detection of light stimulus involved in visual perceptionGO:0509089.5EYS, BEST1
6response to stimulusGO:0508969.4CRX, PRCD, USH2A
7maintenance of organ identityGO:0484969.1USH2A, GPR98
8sensory perception of light stimulusGO:0509539.0USH2A, GPR98
9retina development in camera-type eyeGO:0600419.0TULP1, PRPH2, PDE6B, CRX, RHO
10photoreceptor cell maintenanceGO:0454948.5TULP1, GPR98, USH2A, RDH12
11visual perceptionGO:0076015.8IMPG2, TULP1, GPR98, USH2A, PRPH2, PRCD

Molecular functions related to Rhyns Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:0170229.0USH2A, GPR98

Products for genes affiliated with Rhyns Syndrome

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  • Antibodies
  • Proteins
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Sources for Rhyns Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet