MCID: RHY001
MIFTS: 33

Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

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Sources:
39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 51 47 53 67
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 47
 
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 53
Retinitis Pigmentosa Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

OMIM51 602152
Orphanet53 ORPHA140976
MESH via Orphanet39 C537612
UMLS via Orphanet68 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 Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye and pituitary, and related mouse phenotypes are pigmentation and nervous system.

Description from OMIM:51 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome11.8
2hypogonadotropic hypogonadism-retinitis pigmentosa syndrome11.8
3autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome11.8
4retinitis pigmentosa11.2
5macular dystrophy, patterned, 110.6PRPH2, ROM1
6autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
7unilateral absence of a pulmonary artery10.6RP1, RPGR
8fundus pulverulentus10.6PRPH2, ROM1
9combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
10bullous skin disease10.5CRB1, RHO
11natural killer cell and glucocorticoid deficiency with dna repair defect10.5PRPH2, RHO, RP1
12branchiootorenal spectrum disorders10.4BEST1, ROM1
13muscular dystrophy-dystroglycanopathy , type b, 510.4CRX, RPGR
14bladder disease10.4BEST1, PRPH2
15spinal muscular atrophy-dandy-walker malformation-cataracts syndrome10.3RHO, TULP1
16leukodystrophy, hypomyelinating, 510.3BEST1, PDE6B
17stargardt disease 110.2ABCA4, ROM1
18x-linked infantile nystagmus10.2ABCA4, PRPH2, RHO
19senile reticular retinal degeneration10.2BEST1, PRPH2, ROM1, RPGR
20macular degeneration, x-linked atrophic10.1ABCA4, RPGR
21very long-chain acyl-coenzyme a dehydrogenase deficiency10.1RPGR, USH2A
22posterior polar cataract10.0ABCA4, PDE6B, RHO
23methylmalonic aciduria, mut(0) type10.0BEST1, IMPG2, PRPH2
24acquired color blindness10.0ABCA4, RHO
25partial fetal alcohol syndrome9.9BEST1, IMPG2, PRPH2, ROM1
26hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.8ABCA4, CRB1, CRX, PRPH2
27retinitis9.7
28growth hormone deficiency9.7
29skeletal dysplasias9.7
30skeletal dysplasia9.7
31infiltrating angiolipoma9.7EYS, PRPH2, RHO, RP1, RPGR, SNRNP200
32tendinitis9.4ABCA4, CRB1, EYS, PRPH2, RHO, RPGR
33impetigo herpetiformis9.1ABCA4, CRB1, CRX, EYS, PDE6B, RDH12
34macular degeneration, age-related, 18.7ABCA4, BEST1, CRB1, CRX, IMPG2, PDE6B
35limbal stem cell deficiency8.5ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
36localized scleroderma8.4ABCA4, BEST1, CRB1, CRX, PDE6B, PRCD
37ovarian embryonal carcinoma8.3ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
38carnitine deficiency, systemic primary6.3ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
39immunodeficiency 41 with lymphoproliferation and autoimmunity6.3ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
40ichthyosis, congenital, autosomal recessive 36.3ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
41hypertrichotic osteochondrodysplasia6.3ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
42osteopoikilosis and dacryocystitis6.3ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
43van buchem disease6.1ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
44porokeratosis 9, multiple types6.1ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
45scar contracture5.9ABCA4, 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:

602152

Clinical features from OMIM:

602152

Human phenotypes related to Rhyns Syndrome:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency63 HP:0000083
2 nephronophthisis63 HP:0000090
3 conductive hearing impairment63 HP:0000405
4 deeply set eye63 HP:0000490
5 ptosis63 HP:0000508
6 rod-cone dystrophy63 HP:0000510
7 growth hormone deficiency63 HP:0000824
8 skeletal dysplasia63 HP:0002652
9 pituitary hypothyroidism63 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:

35
Eye, Pituitary

Animal Models for Rhyns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rhyns Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5ABCA4, BEST1, C2orf71, CRB1, CRX, PDE6B
2MP:00036317.4ABCA4, C2orf71, CRB1, CRX, PANK2, PDE6B
3MP:00053916.3ABCA4, BEST1, C2orf71, CRB1, CRX, PANK2

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 52)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)SNVPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)SNVPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)SNVPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)SNVPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> CSNVPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)SNVPathogenicrs527236088GRCh37Chr 4, 654392: 654392
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)SNVPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)SNVPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)SNVPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)SNVPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.5(CRX): c.193G> C (p.Asp65His)SNVPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)SNVPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)SNVPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)SNVPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)SNVPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)SNVPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)SNVPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)SNVPathogenicrs372989281GRCh38Chr 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)SNVPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)SNVPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)SNVPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)SNVPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)SNVPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)SNVPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)SNVPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> ASNVPathogenicrs727504075GRCh37Chr 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> TSNVPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)SNVPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)SNVPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)SNVPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)SNVPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)SNVPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)SNVPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)SNVLikely 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)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
44USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)SNVPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
45RCBTB1NM_018191.3(RCBTB1): c.919G> A (p.Val307Met)SNVLikely pathogenic, Pathogenicrs368217569GRCh37Chr 13, 50123720: 50123720
46RCBTB1NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys)SNVLikely pathogenic, Pathogenicrs772592456GRCh37Chr 13, 50123709: 50123709
47RCBTB1NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr)SNVLikely pathogenic, Pathogenicrs200826424GRCh37Chr 13, 50123666: 50123666
48RCBTB1NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe)SNVLikely pathogenic, Pathogenicrs879255547GRCh37Chr 13, 50118881: 50118881
49USH2ANM_206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
50TULP1NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)SNVPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
51PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)SNVPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
52RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)SNVPathogenicrs61751281GRCh37Chr 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:006034210.6RDH12, RHO
2photoreceptor outer segment membraneGO:004262210.1RHO, ROM1
3photoreceptor connecting ciliumGO:003239110.1RP1, TOPORS, USH2A
4photoreceptor disc membraneGO:009738110.1ABCA4, PDE6B, RHO
5ciliary basal bodyGO:00360649.9RPGR, TOPORS, USH2A
6photoreceptor inner segmentGO:00019179.3C2orf71, RHO, RP1, TULP1, USH2A
7photoreceptor outer segmentGO:00017508.8ABCA4, C2orf71, PRPH2, RHO, RP1, RPGR

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.7PDE6B, RHO
2rhodopsin mediated signaling pathwayGO:001605610.5PDE6B, RHO
3regulation of rhodopsin mediated signaling pathwayGO:002240010.5PDE6B, RHO
4retinal rod cell developmentGO:004654810.5RP1, TOPORS
5sensory perception of light stimulusGO:005095310.5RHO, USH2A
6protein localization to photoreceptor outer segmentGO:190354610.4C2orf71, TULP1
7eye photoreceptor cell developmentGO:004246210.3CRB1, TULP1
8retinal cone cell developmentGO:004654910.2RP1, TOPORS
9photoreceptor cell outer segment organizationGO:003584510.1C2orf71, RP1, TOPORS
10phototransduction, visible lightGO:000760310.0ABCA4, PDE6B, RHO, RP1
11detection of light stimulus involved in visual perceptionGO:00509089.9BEST1, EYS, TULP1
12retinoid metabolic processGO:00015239.7ABCA4, RDH12, RHO
13retina development in camera-type eyeGO:00600419.6PDE6B, PRPH2, RHO, RP1, TULP1
14photoreceptor cell maintenanceGO:00454948.9ABCA4, RDH12, RHO, RP1, TULP1, USH2A
15response to stimulusGO:00508968.9C2orf71, CRX, PRCD, RDH12, RPGR, USH2A
16visual perceptionGO:00076015.9ABCA4, BEST1, C2orf71, CRX, IMPG2, PDE6B

Sources for Rhyns Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet