MCID: RHY001
MIFTS: 32

Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 54 50 56 69
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 50
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 56
Retinitis Pigmentosa Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 54 602152
Orphanet 56 ORPHA140976
MESH via Orphanet 43 C537612
UMLS via Orphanet 70 C1865794

Summaries for Rhyns Syndrome

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 ptosis, osteopenia and hearing impairment. An important gene associated with Rhyns Syndrome is USH2A (Usherin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, bone and liver, and related phenotypes are nervous system and vision/eye

Description from OMIM: 602152

Related Diseases for Rhyns Syndrome

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



Diseases related to Rhyns Syndrome

Symptoms & Phenotypes for Rhyns Syndrome

Symptoms by clinical synopsis from OMIM:

602152

Clinical features from OMIM:

602152

Human phenotypes related to Rhyns Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 Very frequent (99-80%) HP:0000508
2 osteopenia 56 32 Frequent (79-30%) HP:0000938
3 hearing impairment 56 32 Frequent (79-30%) HP:0000365
4 skeletal dysplasia 56 32 Frequent (79-30%) HP:0002652
5 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
6 deeply set eye 56 32 Frequent (79-30%) HP:0000490
7 multicystic kidney dysplasia 56 32 Frequent (79-30%) HP:0000003
8 abnormality of the liver 56 32 Very frequent (99-80%) HP:0001392
9 nephronophthisis 56 32 Very frequent (99-80%) HP:0000090
10 rod-cone dystrophy 56 32 Very frequent (99-80%) HP:0000510
11 hypopituitarism 56 32 Very frequent (99-80%) HP:0040075
12 abnormality of body height 56 32 Frequent (79-30%) HP:0000002
13 hypoplastic ilia 56 32 Frequent (79-30%) HP:0000946
14 abnormality of the acetabulum 56 32 Frequent (79-30%) HP:0003170
15 cranial nerve vi palsy 56 32 Frequent (79-30%) HP:0006897
16 small epiphyses 56 32 Frequent (79-30%) HP:0010585
17 renal insufficiency 32 HP:0000083
18 cranial nerve paralysis 56 Frequent (79-30%)
19 abnormality of the skeletal system 56 Very frequent (99-80%)
20 conductive hearing impairment 32 HP:0000405
21 pituitary hypothyroidism 32 HP:0008245
22 growth hormone deficiency 32 HP:0000824
23 abnormality of long bone morphology 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Rhyns Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 RDH12 RHO ROM1 RP1 USH2A
2 vision/eye MP:0005391 9.02 USH2A RDH12 RHO ROM1 RP1

Drugs & Therapeutics for Rhyns Syndrome

Search Clinical Trials , NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

Anatomical Context for Rhyns Syndrome

MalaCards organs/tissues related to Rhyns Syndrome:

39
Eye, Bone, Liver, Kidney, Pituitary

Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

id Title Authors Year
1
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )
2001

Variations for Rhyns Syndrome

ClinVar genetic disease variations for Rhyns Syndrome:

6 (show top 50) (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh37 Chromosome 14, 68192801: 68192801
2 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
3 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh37 Chromosome 1, 215844427: 215844427
4 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh37 Chromosome 6, 35471593: 35471593
5 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
6 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh37 Chromosome 3, 129247620: 129247620
7 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
8 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
9 USH2A NM_206933.2(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh37 Chromosome 1, 216051224: 216051224
10 PRPH2 NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg) single nucleotide variant Pathogenic rs61755817 GRCh37 Chromosome 6, 42672195: 42672195
11 RPE65 NM_000329.2(RPE65): c.118G> A (p.Gly40Ser) single nucleotide variant Pathogenic rs61751281 GRCh37 Chromosome 1, 68912520: 68912520
12 PDE6B NM_000283.3(PDE6B): c.1467+1G> C single nucleotide variant Pathogenic rs527236089 GRCh37 Chromosome 4, 652807: 652807
13 PDE6B NM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn) single nucleotide variant Pathogenic rs527236088 GRCh37 Chromosome 4, 654392: 654392
14 PRPH2 NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp) single nucleotide variant Pathogenic rs527236097 GRCh37 Chromosome 6, 42689663: 42689663
15 PRPH2 NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser) single nucleotide variant Pathogenic/Likely pathogenic rs527236098 GRCh37 Chromosome 6, 42689574: 42689574
16 ROM1 NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs) duplication Pathogenic rs527236104 GRCh38 Chromosome 11, 62613612: 62613612
17 RHO NM_000539.3(RHO): c.520G> A (p.Gly174Ser) single nucleotide variant Pathogenic rs527236103 GRCh37 Chromosome 3, 129249877: 129249877
18 RHO NM_000539.3(RHO): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs527236100 GRCh37 Chromosome 3, 129251125: 129251125
19 CRX NM_000554.5(CRX): c.193G> C (p.Asp65His) single nucleotide variant Pathogenic rs527236062 GRCh38 Chromosome 19, 47836335: 47836335
20 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs527236092 GRCh37 Chromosome 17, 74536225: 74536225
21 EYS NM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs) duplication Pathogenic rs527236065 GRCh38 Chromosome 6, 64590910: 64590910
22 EYS NM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu) single nucleotide variant Pathogenic rs527236068 GRCh37 Chromosome 6, 64791763: 64791763
23 EYS NM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp) single nucleotide variant Pathogenic rs527236064 GRCh37 Chromosome 6, 64488004: 64488004
24 EYS NM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter) single nucleotide variant Pathogenic rs527236066 GRCh37 Chromosome 6, 64472506: 64472506
25 EYS NM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter) single nucleotide variant Pathogenic rs527236067 GRCh37 Chromosome 6, 64431122: 64431122
26 EYS NM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr) single nucleotide variant Pathogenic rs183589498 GRCh37 Chromosome 6, 64430718: 64430718
27 BEST1 NM_004183.3(BEST1): c.763C> T (p.Arg255Trp) single nucleotide variant Pathogenic rs372989281 GRCh38 Chromosome 11, 61958194: 61958194
28 TOPORS NM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs) deletion Pathogenic rs527236116 GRCh37 Chromosome 9, 32541966: 32541969
29 SNRNP200 NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His) single nucleotide variant Pathogenic rs527236113 GRCh37 Chromosome 2, 96958828: 96958828
30 SNRNP200 NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu) single nucleotide variant Pathogenic rs527236114 GRCh37 Chromosome 2, 96958823: 96958823
31 IMPG2 NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter) single nucleotide variant Pathogenic rs199867882 GRCh37 Chromosome 3, 100949961: 100949961
32 RDH12 NM_152443.2(RDH12): c.776delG (p.Glu260Argfs) deletion Pathogenic rs527236099 GRCh37 Chromosome 14, 68196025: 68196025
33 USH2A NM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly) single nucleotide variant Pathogenic rs527236119 GRCh37 Chromosome 1, 215956121: 215956121
34 USH2A NM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg) single nucleotide variant Pathogenic rs527236122 GRCh37 Chromosome 1, 215807865: 215807865
35 USH2A NM_206933.2(USH2A): c.2802T> G (p.Cys934Trp) single nucleotide variant Pathogenic rs201527662 GRCh37 Chromosome 1, 216419934: 216419934
36 USH2A NM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg) single nucleotide variant Pathogenic rs527236118 GRCh37 Chromosome 1, 215972456: 215972456
37 PDE6B NM_000283.3(PDE6B): c.2193+1G> A single nucleotide variant Pathogenic rs727504075 GRCh37 Chromosome 4, 658734: 658734
38 RPGR NM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs) deletion Pathogenic rs730882261 GRCh37 Chromosome X, 38145825: 38145826
39 CRB1 NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs) duplication Pathogenic rs863223342 GRCh38 Chromosome 1, 197421287: 197421287
40 CRB1 NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr) single nucleotide variant Pathogenic rs863223341 GRCh37 Chromosome 1, 197398685: 197398685
41 ABCA4 NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs) deletion Pathogenic rs863223338 GRCh38 Chromosome 1, 94044736: 94044736
42 C2orf71 NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter) single nucleotide variant Pathogenic rs863223344 GRCh37 Chromosome 2, 29296416: 29296416
43 PDE6B NM_000283.3(PDE6B): c.1060-1G> T single nucleotide variant Pathogenic rs863223339 GRCh37 Chromosome 4, 650033: 650033
44 RP1 NM_006269.1(RP1): c.679T> G (p.Phe227Val) single nucleotide variant Pathogenic rs863223340 GRCh37 Chromosome 8, 55534740: 55534740
45 IFT140 NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu) single nucleotide variant Pathogenic rs779007169 GRCh38 Chromosome 16, 1520177: 1520177
46 PANK2 NM_024960.5(PANK2): c.419T> C (p.Phe140Ser) single nucleotide variant Pathogenic rs863223343 GRCh38 Chromosome 20, 3912514: 3912514
47 PDE6B NM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876657718 GRCh37 Chromosome 4, 619706: 619706
48 RCBTB1 NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe) single nucleotide variant Pathogenic/Likely pathogenic rs879255547 GRCh37 Chromosome 13, 50118881: 50118881
49 RCBTB1 NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs200826424 GRCh37 Chromosome 13, 50123666: 50123666
50 RCBTB1 NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys) single nucleotide variant Pathogenic/Likely pathogenic rs772592456 GRCh37 Chromosome 13, 50123709: 50123709

Expression for Rhyns Syndrome

Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for Rhyns Syndrome

GO Terms for Rhyns Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.32 RHO RP1
2 photoreceptor connecting cilium GO:0032391 9.26 RP1 USH2A
3 photoreceptor outer segment membrane GO:0042622 9.16 RHO ROM1
4 photoreceptor inner segment membrane GO:0060342 8.96 RDH12 RHO
5 photoreceptor inner segment GO:0001917 8.8 RHO RP1 USH2A

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.62 RDH12 RHO RP1 USH2A
2 retina development in camera-type eye GO:0060041 9.46 RHO RP1
3 retinoid metabolic process GO:0001523 9.43 RDH12 RHO
4 sensory perception of light stimulus GO:0050953 9.4 RHO USH2A
5 retina morphogenesis in camera-type eye GO:0060042 9.37 ROM1 RP1
6 visual perception GO:0007601 9.35 RDH12 RHO ROM1 RP1 USH2A
7 phototransduction, visible light GO:0007603 9.26 RHO RP1
8 cellular response to light stimulus GO:0071482 9.16 RHO RP1
9 photoreceptor cell maintenance GO:0045494 8.92 RDH12 RHO RP1 USH2A

Sources for Rhyns Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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34 ICD10 via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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