Rhyns Syndrome (RP) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases categories

Summaries for Rhyns Syndrome

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Genetics Home Reference:22 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 renal insufficiency, nephronophthisis and conductive hearing impairment. 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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42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 61UMLS, 35MESH via Orphanet, 62UMLS via Orphanet
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Rhyns Syndrome, Aliases & Descriptions:

Name: Rhyns Syndrome 42 48 46 61
Retinitis Pigmentosa Syndrome 42 21 23 61
Retinitis Pigmentosa 22 11 44 61
Cone-Rod Retinal Dystrophy 22 61
Tapetoretinal Degeneration 22 61
Pigmentary Retinopathy 22 61
Rod-Cone Dystrophy 22 61
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 42
Retinitis Pigmentosa - Hypopituitarism - Nephronophthisis - Skeletal Dysplasia 48
Rp 22


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 602152
MESH via Orphanet35 C537612
UMLS via Orphanet62 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
2blindness31.0CRX, RPE65, PDE6B, RHO
3night blindness30.9PDE6B, RHO, RPE65
5leber congenital amaurosis30.8TULP1, RPE65, CRX, RHO, RDH12
6congenital stationary night blindness30.7RPE65, PDE6B, RHO
7fundus albipunctatus30.5PRPH2, RHO
8fundus flavimaculatus30.3ROM1
9vitelliform macular dystrophy30.1ROM1, BEST1, PRPH2
10cone-rod dystrophy 229.9TULP1, RHO, CRX, RPE65, PRPH2
11fundus dystrophy29.4RDH12, RHO, TULP1, BEST1, RPE65, ROM1
12retinal degeneration29.2CRX, RHO, RDH12, PDE6B, ROM1, RPE65
13cone dystrophy11.0
14usher syndrome10.8
15cystoid macular edema10.7
16neuropathy ataxia retinitis pigmentosa syndrome10.7
17newfoundland rod-cone dystrophy10.6
19retinitis pigmentosa 210.6
20posterior column ataxia with retinitis pigmentosa10.6
22microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.6
23cone-rod dystrophy10.5
26retinitis pigmentosa 310.5
27macular dystrophy10.5
28posterior column ataxia10.5
29muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
30retinitis pigmentosa 1710.4
31retinitis pigmentosa 910.4
32polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
33x-linked intellectual disability-retinitis pigmentosa syndrome10.4
34retinitis pigmentosa autosomal recessive10.4
35bietti crystalline corneoretinal dystrophy10.4
36refsum disease10.4
37retinitis pigmentosa 1110.4
38mental retardation10.4
39cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness10.4
41bardet-biedl syndrome10.4
43retinitis pigmentosa 1310.4
44retinitis pigmentosa 1410.4
45retinitis pigmentosa 1810.4
46retinitis pigmentosa 1910.4
47retinitis pigmentosa 2010.4
48retinitis pigmentosa 2510.4
49retinitis pigmentosa 2610.4
50retinitis pigmentosa 2810.4

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:


Clinical features from OMIM:


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 Panels21
2 Retinitis Pigmentosa21 23 ZNF513

Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

Eye, Retina

Animal Models for Rhyns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rhyns Syndrome:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4PRPH2, ROM1, PDE6B, CRX, RHO, TULP1
2MP:00011867.9TULP1, PRPH2, BEST1, RPE65, PDE6B, CRX
3MP:00036316.7TULP1, USH2A, PRPH2, RPE65, ROM1, PDE6B
4MP:00053916.6RDH12, TULP1, USH2A, PRPH2, BEST1, RPE65

Publications for Rhyns Syndrome

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Articles related to Rhyns Syndrome:

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

Variations for Rhyns Syndrome

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Clinvar genetic disease variations for Rhyns Syndrome:

7 (show all 36)
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
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 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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44Novoseek, 25HMDB, 12DrugBank
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Compounds related to Rhyns Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol44 2510.8RHO, RPE65
2retinoid449.6RHO, CRX, RPE65
3vitamin a44 25 1211.4RDH12, 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:06034210.0RDH12, RHO
2photoreceptor disc membraneGO:0973819.9RHO, PDE6B
3photoreceptor outer segment membraneGO:0426229.8ROM1, RHO
4photoreceptor outer segmentGO:0017509.7RHO, TULP1
5photoreceptor inner segmentGO:0019179.4RHO, TULP1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:0160569.9RHO, PDE6B
2retinoid metabolic processGO:0015239.7RPE65, RHO, RDH12
3regulation of rhodopsin mediated signaling pathwayGO:0224009.6RHO, PDE6B
4phototransduction, visible lightGO:0076039.5RPE65, PDE6B, RHO, RDH12
5detection of light stimulus involved in visual perceptionGO:0509089.4BEST1, EYS
6response to stimulusGO:0508969.0CRX, PRCD, USH2A
7photoreceptor cell maintenanceGO:0454949.0RDH12, USH2A, TULP1
8retina development in camera-type eyeGO:0600418.9TULP1, PRPH2, PDE6B, CRX, RHO
9visual perceptionGO:0076016.2IMPG2, TULP1, USH2A, PRPH2, PRCD, BEST1

Products for genes affiliated with Rhyns Syndrome

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Sources for Rhyns Syndrome

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet