Rhyns Syndrome malady

Categories: Rare diseases, Eye diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Rhyns Syndrome

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50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 50 46 52 66
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 46
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 52
Retinitis Pigmentosa Syndrome 46


Orphanet epidemiological data:

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


External Ids:

OMIM50 602152
Orphanet52 ORPHA140976
MESH via Orphanet38 C537612
UMLS via Orphanet67 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 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome and hypogonadotropic hypogonadism-retinitis pigmentosa syndrome, and has symptoms including renal insufficiency, nephronophthisis and conductive hearing impairment. An important gene associated with Rhyns Syndrome is PRPH2 (Peripherin 2), and among its related pathways are Visual Cycle in Retinal Rods and the visual cycle I (vertebrates). Affiliated tissues include eye and pituitary, and related mouse phenotypes are cardiovascular system and pigmentation.

Description from OMIM:50 602152

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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome11.9
2hypogonadotropic hypogonadism-retinitis pigmentosa syndrome11.9
3autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome11.9
4unilateral absence of a pulmonary artery10.7RP1, RPGR
5macular dystrophy, patterned, 110.7PRPH2, ROM1
6autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
7fundus pulverulentus10.6PRPH2, ROM1
8muscular dystrophy-dystroglycanopathy , type b, 510.6CRX, RPGR
9branchiootorenal spectrum disorders10.5BEST1, ROM1
10natural killer cell and glucocorticoid deficiency with dna repair defect10.5PRPH2, RHO, RP1
11bladder disease10.5BEST1, PRPH2
12bullous skin disease10.4CRB1, RHO
13leukodystrophy, hypomyelinating, 510.3BEST1, PDE6B
14senile reticular retinal degeneration10.3BEST1, PRPH2, ROM1, RPGR
15spinal muscular atrophy-dandy-walker malformation-cataracts syndrome10.3RHO, TULP1
16rpgr-related retinitis pigmentosa10.2CRX, RPE65
17x-linked infantile nystagmus10.2ABCA4, PRPH2, RHO
18stargardt disease 110.2ABCA4, ROM1
19very long-chain acyl-coenzyme a dehydrogenase deficiency10.1RPGR, USH2A
20hereditary retinal dystrophy10.1PDE6B, RHO, RPE65
21macular degeneration, x-linked atrophic10.0ABCA4, RPGR
22combined oxidative phosphorylation deficiency 310.0PDE6B, PRPH2, RHO, RPE65
23methylmalonic aciduria, mut(0) type9.9BEST1, IMPG2, PRPH2
24leber congenital amaurosis9.9CRB1, CRX, RPE65
25acquired color blindness9.9ABCA4, RHO, RPE65
26retinitis pigmentosa9.9
28growth hormone deficiency9.9
29skeletal dysplasias9.9
30skeletal dysplasia9.9
31hyperinsulinism9.8ABCA4, RHO, RPE65
32hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.8ABCA4, CRB1, CRX, PRPH2
33partial fetal alcohol syndrome9.7BEST1, IMPG2, PRPH2, ROM1
34posterior polar cataract9.7ABCA4, PDE6B, RHO, RPE65
35infiltrating angiolipoma9.3EYS, PRPH2, RHO, RP1, RPE65, RPGR
36tendinitis8.9ABCA4, CRB1, EYS, PRPH2, RHO, RPE65
37impetigo herpetiformis8.7ABCA4, CRB1, CRX, EYS, PDE6B, RPE65
38localized scleroderma7.9ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
39macular degeneration, age-related, 17.7ABCA4, BEST1, CRB1, CRX, IMPG2, PDE6B
40ovarian embryonal carcinoma7.6ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
41limbal stem cell deficiency7.4ABCA4, BEST1, CRB1, CRX, IFT140, PDE6B
42carnitine deficiency, systemic primary4.5ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
43immunodeficiency 41 with lymphoproliferation and autoimmunity4.5ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
44ichthyosis, congenital, autosomal recessive 34.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
45hypertrichotic osteochondrodysplasia4.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
46van buchem disease4.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
47osteopoikilosis and dacryocystitis4.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
48scar contracture4.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
49porokeratosis 9, multiple types4.4ABCA4, BEST1, C2orf71, CRB1, CRX, EYS

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 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:

Eye, Pituitary

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:00053857.9ABCA4, CRX, IFT140, PDE6B, PRPH2, RHO
2MP:00011867.6ABCA4, BEST1, C2orf71, CRB1, CRX, PDE6B
3MP:00036315.6ABCA4, C2orf71, CRB1, CRX, IFT140, PANK2
4MP:00053915.2ABCA4, BEST1, C2orf71, CRB1, CRX, IFT140

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:

5 (show all 49)
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 variantPathogenicrs527236088GRCh38Chr 4, 660603: 660603
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 variantPathogenicrs527236092GRCh38Chr 17, 76540143: 76540143
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
25NM_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
30PDE6BNM_000283.3(PDE6B): c.2193+1G> Asingle nucleotide variantPathogenicrs727504075GRCh37Chr 4, 658734: 658734
31RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
32ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicrs863223338GRCh38Chr 1, 94044736: 94044736
33PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)single nucleotide variantLikely pathogenic, Pathogenicrs876657718GRCh37Chr 4, 619706: 619706
42USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
43USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
44USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
45ACACBNM_001093.3(ACACB): c.4967G> C (p.Gly1656Ala)single nucleotide variantPathogenicrs878855330GRCh38Chr 12, 109241226: 109241226
46USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
47TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
48PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
49RPE65NM_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 outer segment membraneGO:004262210.1RHO, ROM1
2photoreceptor disc membraneGO:009738110.0ABCA4, PDE6B, RHO
3photoreceptor connecting ciliumGO:00323919.7IFT140, RP1, TOPORS, USH2A
4primary ciliumGO:00723729.6C2orf71, IFT140, RPGR
5ciliary basal bodyGO:00360649.4IFT140, RPGR, TOPORS, USH2A
6photoreceptor inner segmentGO:00019179.1C2orf71, RHO, RP1, TULP1, USH2A
7photoreceptor outer segmentGO:00017508.2ABCA4, C2orf71, IFT140, PRPH2, RHO, RP1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.6PDE6B, RHO
2retinal cone cell developmentGO:004654910.5RP1, TOPORS
3retinal rod cell developmentGO:004654810.5RP1, TOPORS
4rhodopsin mediated signaling pathwayGO:001605610.4PDE6B, RHO
5regulation of rhodopsin mediated signaling pathwayGO:002240010.4PDE6B, RHO
6sensory perception of light stimulusGO:005095310.4RHO, USH2A
7intraciliary transportGO:004207310.4IFT140, RPGR
8protein localization to photoreceptor outer segmentGO:190354610.3C2orf71, TULP1
9eye photoreceptor cell developmentGO:004246210.2CRB1, TULP1
10retina morphogenesis in camera-type eyeGO:00600429.9ROM1, RPE65
11phototransduction, visible lightGO:00076039.9ABCA4, PDE6B, RHO, RP1
12photoreceptor cell outer segment organizationGO:00358459.6C2orf71, IFT140, RP1, TOPORS
13response to stimulusGO:00508969.5C2orf71, CRX, RPGR, USH2A
14detection of light stimulus involved in visual perceptionGO:00509089.5BEST1, EYS, RPE65, TULP1
15retinoid metabolic processGO:00015239.4ABCA4, RHO, RPE65
16photoreceptor cell maintenanceGO:00454948.6ABCA4, RHO, RP1, TULP1, USH2A
17retina development in camera-type eyeGO:00600418.4IFT140, PDE6B, PRPH2, RHO, RP1, RPE65
18visual perceptionGO:00076015.6ABCA4, BEST1, C2orf71, CRX, IMPG2, PDE6B

Sources for Rhyns Syndrome

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet