Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

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41NIH Rare Diseases, 47Orphanet, 60UMLS, 20GeneTests, 34MESH via Orphanet, 61UMLS via Orphanet
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Rhyns Syndrome, Aliases & Descriptions:

Name: Rhyns Syndrome 41 47 60
Retinitis Pigmentosa - Hypopituitarism - Nephronophthisis - Skeletal Dysplasia 41 47
Retinitis Pigmentosa Syndrome 41 20
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 41


Characteristics (Orphanet epidemiological data):

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

External Ids:

Orphanet47 140976
MESH via Orphanet34 C537612
UMLS via Orphanet61 C1865794

Summaries for Rhyns Syndrome

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MalaCards based summary: Rhyns Syndrome, also known as retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia, is related to retinitis and cone-rod dystrophy, 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 pituitary, and related mouse phenotypes are cardiovascular system and pigmentation.

Related Diseases for Rhyns Syndrome

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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 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

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: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:

6 (show all 36)
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.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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Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for genes affiliated with Rhyns Syndrome

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Compounds for genes affiliated with Rhyns Syndrome

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43Novoseek, 24HMDB, 12DrugBank
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Compounds related to Rhyns Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
111-cis-retinol43 2410.8RHO, RPE65
2retinoid439.6RHO, CRX, RPE65
3vitamin a43 24 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.0RDH12, RHO
2photoreceptor disc membraneGO:00973819.9RHO, PDE6B
3photoreceptor outer segment membraneGO:00426229.8ROM1, RHO
4photoreceptor outer segmentGO:00017509.7RHO, TULP1
5photoreceptor inner segmentGO:00019179.4RHO, TULP1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:00160569.9RHO, PDE6B
2retinoid metabolic processGO:00015239.7RPE65, RHO, RDH12
3regulation of rhodopsin mediated signaling pathwayGO:00224009.6RHO, PDE6B
4phototransduction, visible lightGO:00076039.5RPE65, PDE6B, RHO, RDH12
5detection of light stimulus involved in visual perceptionGO:00509089.4BEST1, EYS
6response to stimulusGO:00508969.0CRX, PRCD, USH2A
7photoreceptor cell maintenanceGO:00454949.0RDH12, USH2A, TULP1
8retina development in camera-type eyeGO:00600418.9TULP1, PRPH2, PDE6B, CRX, RHO
9visual perceptionGO:00076016.2IMPG2, TULP1, USH2A, PRPH2, PRCD, BEST1

Products for genes affiliated with Rhyns Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Rhyns Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet