MCID: RHY001
MIFTS: 34

Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 45 51 65
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 45
 
Retinitis Pigmentosa - Hypopituitarism - Nephronophthisis - Skeletal Dysplasia 51
Retinitis Pigmentosa Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)


External Ids:

Orphanet51 140976
MESH via Orphanet37 C537612
UMLS via Orphanet66 C1865794

Summaries for Rhyns Syndrome

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MalaCards based summary: Rhyns Syndrome, also known as retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia, is related to nephronophthisis and hypopituitarism, and has symptoms including renal insufficiency, nephronophthisis and conductive hearing impairment. An important gene associated with Rhyns Syndrome is RPE65 (Retinal Pigment Epithelium-Specific Protein 65kDa), and among its related pathways are the visual cycle I (vertebrates) and Visual phototransduction. Affiliated tissues include eye, pituitary and bone, and related mouse phenotypes are pigmentation and cardiovascular system.

Related Diseases for Rhyns Syndrome

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

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis10.6
2hypopituitarism10.6
3neuropathy ataxia retinitis pigmentosa syndrome10.5
4usher syndrome10.3
5autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome10.3
6x-linked intellectual disability-retinitis pigmentosa syndrome10.3
7cone-rod dystrophy x-linked 210.3RP1, RPGR
8retinitis pigmentosa10.3
9retinitis pigmentosa 7 and digenic10.3PRPH2, ROM1
10multifocal pattern dystrophy simulating fundus flavimaculatus10.3PRPH2, ROM1
11amenorrhea10.2RHO, RPE65, RPGR
12muscular dystrophy-dystroglycanopathy , type a, 510.2CRX, RPGR
13peripheral vertigo10.2PRPH2, ROM1, RPGR
14retinitis pigmentosa 110.2PRPH2, RHO, RP1
15rpe65-related retinitis pigmentosa10.2CRX, RPE65
16juvenile dermatitis herpetiformis10.2CRB1, RHO
17stevens-johnson syndrome/toxic epidermal necrolysis10.2PRPH2, RHO
18vcan-related vitreoretinopathy10.2RPGR, USH2A
19bipolar disorder10.2BEST1, PRPH2
20fungal meningitis10.2CRB1, RDH12, RPE65
21retinitis10.1
22growth hormone deficiency10.1
23skeletal dysplasias10.1
24skeletal dysplasia10.1
25autosomal recessive congenital methemoglobinemia10.1PDE6B, RHO
26biotin-thiamine-responsive basal ganglia disease10.1BEST1, ROM1
27cone-rod dystrophy10.1
28aldred syndrome10.1
29ataxia10.1
30keratopathy10.1CRB1, CRX, RPE65
31obesity due to melanocortin 4 receptor deficiency10.0RHO, TULP1
32charcot-marie-tooth disease type x10.0PDE6B, RHO, RPE65, RPGR
33fundus albipunctatus10.0PDE6B, PRPH2, RHO, RPE65
34arrhythmogenic right ventricular cardiomyopathy10.0C2orf71, PRPH2, RHO, RPGR, USH2A
35nodular ganglioneuroblastoma9.9PDE6B, RHO, RPE65
36deficiency anemia9.9CRB1, CRX, PRPH2, RHO, RPE65, RPGR
37macular dystrophy, vitelliform, 39.9BEST1, IMPG2, PRPH2
38partial fetal alcohol syndrome9.8BEST1, IMPG2, PRPH2, ROM1
39retroperitoneal cancer9.8EYS, PRPH2, RHO, RP1, RPE65, RPGR
40neurilemmoma9.3BEST1, CRB1, CRX, PDE6B, PRPH2, RDH12
41retinal detachment9.3BEST1, CRB1, CRX, PDE6B, PRPH2, RHO
42macular degeneration, age-related, 19.3BEST1, CRB1, CRX, IMPG2, PDE6B, PRPH2
43eye lymphoma9.1BEST1, CRB1, CRX, EYS, PDE6B, PRPH2
44leukemia9.1BEST1, CRB1, CRX, IFT140, PDE6B, PRPH2
45retinal telangiectasia8.8BEST1, CRB1, CRX, IMPG2, PDE6B, PRPH2
46chylomicron retention disease7.9BEST1, C2orf71, CRB1, CRX, EYS, IFT140
47refsum disease7.8BEST1, C2orf71, CRB1, CRX, EYS, IFT140
48ichthyosis, congenital, autosomal recessive 27.8BEST1, C2orf71, CRB1, CRX, EYS, IFT140
49proximal myopathy and ophthalmoplegia7.8BEST1, C2orf71, CRB1, CRX, EYS, IFT140
50naegeli-franceschetti-jadassohn syndrome7.8BEST1, C2orf71, CRB1, CRX, EYS, IFT140

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



Diseases related to rhyns syndrome

Symptoms for Rhyns Syndrome

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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 rod-cone dystrophy 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

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Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

33
Eye, Pituitary, Bone

Animal Models for Rhyns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rhyns Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4BEST1, CRB1, CRX, PDE6B, PRPH2, RHO
2MP:00053858.2CRX, IFT140, PDE6B, PRPH2, RHO, ROM1
3MP:00036316.3CRB1, CRX, IFT140, PANK2, PDE6B, PRPH2
4MP:00053915.8BEST1, CRB1, CRX, IFT140, PANK2, PDE6B

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:

5 (show all 46)
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.1467+1G> Csingle nucleotide variantPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicrs527236088GRCh37Chr 4, 654392: 654392
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13NM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicrs372989281GRCh38Chr 11, 61958194: 61958194
21TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicrs527236116GRCh37Chr 9, 32541966: 32541969
22SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
31ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicGRCh38Chr 1, 94044736: 94044736
32PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 4, 650033: 650033
33RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicGRCh37Chr 8, 55534740: 55534740
34IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
35CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 197398685: 197398685
36CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicGRCh38Chr 1, 197421287: 197421287
37PANK2NM_024960.4(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicGRCh38Chr 20, 3912514: 3912514
38C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicGRCh37Chr 2, 29296416: 29296416
39RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
40USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
41USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
42USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
43USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
44TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
45PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
46RPE65NM_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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Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for genes affiliated with Rhyns Syndrome

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GO Terms for genes affiliated with Rhyns Syndrome

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Cellular components related to Rhyns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.5RDH12, RHO
2photoreceptor outer segment membraneGO:004262210.3RHO, ROM1
3photoreceptor disc membraneGO:009738110.2PDE6B, RHO
4photoreceptor inner segmentGO:00019179.8RHO, RP1, TULP1, USH2A
5ciliumGO:00059299.4IFT140, RP1, RPGR, TULP1
6ciliary basal bodyGO:00360649.3IFT140, RPGR, TOPORS, USH2A
7photoreceptor connecting ciliumGO:00323919.2IFT140, RP1, RPGR, TOPORS, USH2A
8photoreceptor outer segmentGO:00017508.1C2orf71, IFT140, PDE6B, PRPH2, RHO, ROM1

Biological processes related to Rhyns Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1retinal rod cell developmentGO:004654810.5RP1, TOPORS
2retinal cone cell developmentGO:004654910.5RP1, TOPORS
3detection of light stimulusGO:000958310.4PDE6B, RHO
4cellular response to light stimulusGO:007148210.4RHO, RP1, RPGR
5intraciliary transportGO:004207310.3IFT140, RPGR
6retina morphogenesis in camera-type eyeGO:006004210.3ROM1, RP1, RPE65, RPGR
7eye photoreceptor cell developmentGO:004246210.1CRB1, RPGR, TULP1
8retinol metabolic processGO:004257210.0RDH12, RPE65
9photoreceptor cell outer segment organizationGO:003584510.0IFT140, RP1, TOPORS
10retinoid metabolic processGO:000152310.0RDH12, RHO, RPE65
11sensory perception of light stimulusGO:00509539.9RHO, USH2A
12response to stimulusGO:00508969.8C2orf71, CRX, USH2A
13detection of light stimulus involved in visual perceptionGO:00509089.8BEST1, EYS, RPE65, TULP1
14photoreceptor cell maintenanceGO:00454949.5RDH12, RHO, RP1, TULP1, USH2A
15phototransduction, visible lightGO:00076039.2PDE6B, RDH12, RHO, RP1, RPE65
16retina development in camera-type eyeGO:00600418.5CRX, IFT140, PDE6B, PRPH2, RHO, RP1
17visual perceptionGO:00076016.1BEST1, C2orf71, CRX, IMPG2, PDE6B, PRPH2

Sources for Rhyns Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet