MCID: RHY001
MIFTS: 44

Rhyns Syndrome

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

Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome 53 49 55 69
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 53 49
Retinitis Pigmentosa Syndrome 53 49
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
? autosomal recessive


Classifications:



Summaries for Rhyns Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140976Disease definitionRHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.EpidemiologySo far, it has been described in four males.Genetic counselingAutosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.Visit the Orphanet disease page for more resources. Last updated: 7/15/2008

MalaCards based summary : Rhyns Syndrome, also known as retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia, is related to usher syndrome and leber congenital amaurosis 4, and has symptoms including ptosis, osteopenia and hearing impairment. An important gene associated with Rhyns Syndrome is RHO (Rhodopsin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include liver, eye and kidney, and related phenotypes are nervous system and cardiovascular system

Description from OMIM: 602152

Related Diseases for Rhyns Syndrome

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 31.8 CLRN1 RPGR USH2A
2 leber congenital amaurosis 4 30.2 PDE6A RPE65
3 retinitis 29.9 PRPH2 RHO RP1 RPE65 RPGR SNRNP200
4 retinitis pigmentosa 26.6 BBS10 C2orf71 CLRN1 CNGA1 CNGB1 PDE6A
5 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.0
6 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.9
7 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.9
8 neuropathy, ataxia, and retinitis pigmentosa 11.5
9 retinitis pigmentosa with or without skeletal anomalies 10.9
10 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 10.9
11 chromosome xp11.3 deletion syndrome 10.9
12 posterior column ataxia with retinitis pigmentosa 10.9
13 aldred syndrome 10.9
14 stargardt macular degeneration 10.6 PRPH2 RHO
15 autosomal dominant congenital stationary night blindness 10.5 PDE6B RHO
16 butterfly-shaped pigment dystrophy 10.5 PRPH2 ROM1
17 retinitis pigmentosa 7 10.5 PRPH2 RHO ROM1
18 retinitis pigmentosa 1 10.5 PRPH2 RHO RP1
19 peripheral retinal degeneration 10.5 PRPH2 ROM1 RPGR
20 cancer-associated retinopathy 10.5 RHO TULP1
21 leber congenital amaurosis 9 10.5 RDH12 RPE65 TULP1
22 usher syndrome, type iid 10.4 RHO RPGR USH2A
23 nonsyndromic retinitis pigmentosa 10.4 CLRN1 USH2A
24 retinitis pigmentosa 44 10.4 RDH12 RPGR
25 retinitis pigmentosa 43 10.4 PDE6A PDE6B RHO
26 retinitis pigmentosa 19 10.4 CNGA1 PDE6B
27 usher syndrome, type i 10.3 CLRN1 RHO USH2A
28 fundus albipunctatus 10.3 PDE6B PRPH2 RHO RPE65
29 achromatopsia 10.3 CNGB1 RPE65 RPGR
30 macular degeneration, age-related, 1 10.3 PDE6B PRPH2 RHO RPE65
31 red-green color blindness 10.3 RHO RPE65
32 congenital stationary night blindness 10.3 PDE6B RHO RPE65 RPGR
33 usher syndrome, type iic 10.2 CLRN1 PDE6A PDE6B USH2A
34 stargardt disease 1 10.2 RHO ROM1
35 stargardt disease 10.1 PROM1 PRPH2 RDH12 RHO RPE65 RPGR
36 cone-rod dystrophy 2 10.1 PROM1 PRPH2 RHO RPE65 RPGR TULP1
37 retinal degeneration 10.0 PDE6B PRPH2 RHO ROM1 RPE65 RPGR
38 growth hormone deficiency 9.8
39 skeletal dysplasias 9.8
40 leber congenital amaurosis 9.7 PDE6A PDE6B PRPH2 RDH12 RHO RPE65
41 retinal disease 9.5 CNGB1 PDE6B PRPH2 RDH12 RHO ROM1
42 fundus dystrophy 9.3 BBS10 C2orf71 PROM1 PRPH2 RDH12 RHO

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



Diseases related to Rhyns Syndrome

Symptoms & Phenotypes for Rhyns Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skel:
skeletal dysplasia

Endocrine:
growth hormone deficiency
hypopituitarism
thyroid stimulating hormone deficiency

GI:
liver fibrosis

GU:
nephronophthisis
renal failure

Eyes:
enophthalmos
retinitis pigmentosa
eyelid ptosis

Ears:
conduction deafness


Clinical features from OMIM:

602152

Human phenotypes related to Rhyns Syndrome:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
3 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
4 skeletal dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0002652
5 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
6 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
7 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
8 abnormality of the liver 55 31 hallmark (90%) Very frequent (99-80%) HP:0001392
9 nephronophthisis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000090
10 rod-cone dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000510
11 hypopituitarism 55 31 hallmark (90%) Very frequent (99-80%) HP:0040075
12 abnormality of body height 55 31 frequent (33%) Frequent (79-30%) HP:0000002
13 hypoplastic ilia 55 31 frequent (33%) Frequent (79-30%) HP:0000946
14 abnormality of the acetabulum 55 31 frequent (33%) Frequent (79-30%) HP:0003170
15 cranial nerve vi palsy 55 31 frequent (33%) Frequent (79-30%) HP:0006897
16 small epiphyses 55 31 frequent (33%) Frequent (79-30%) HP:0010585
17 renal insufficiency 31 HP:0000083
18 cranial nerve paralysis 55 Frequent (79-30%)
19 abnormality of the skeletal system 55 Very frequent (99-80%)
20 conductive hearing impairment 31 HP:0000405
21 pituitary hypothyroidism 31 HP:0008245
22 growth hormone deficiency 31 HP:0000824
23 abnormality of long bone morphology 55 Frequent (79-30%)

MGI Mouse Phenotypes related to Rhyns Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 BBS10 C2orf71 CLRN1 PDE6A PDE6B PROM1
2 cardiovascular system MP:0005385 9.91 RHO ROM1 RP1 RPGR SNRNP200 TULP1
3 pigmentation MP:0001186 9.56 C2orf71 PDE6B PROM1 PRPH2 RHO RPE65
4 vision/eye MP:0005391 9.5 TULP1 USH2A BBS10 C2orf71 CLRN1 PDE6A

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:

38
Liver, Eye, Kidney, Bone, Thyroid, Pituitary

Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

# 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 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh37 Chromosome 2, 96953706: 96953706
2 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893967 GRCh37 Chromosome 6, 42146112: 42146112
3 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
4 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic/Likely pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
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.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh37 Chromosome 3, 129247734: 129247734
7 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131
8 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh37 Chromosome 3, 129247620: 129247620
9 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
10 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh37 Chromosome 4, 647908: 647908
11 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
12 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
13 ABCA4 NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys) single nucleotide variant Pathogenic/Likely pathogenic rs61751399 GRCh37 Chromosome 1, 94506923: 94506923
14 USH2A NM_206933.2(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh37 Chromosome 1, 216051224: 216051224
15 USH2A NM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter) single nucleotide variant Pathogenic rs397518041 GRCh37 Chromosome 1, 216019240: 216019240
16 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
17 COL18A1 NM_130445.3(COL18A1): c.3514_3515delCT (p.Leu1172Valfs) deletion Pathogenic/Likely pathogenic rs398122391 GRCh37 Chromosome 21, 46930005: 46930006
18 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
19 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372504780 GRCh37 Chromosome 16, 57984367: 57984367
20 PRPH2 NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg) single nucleotide variant Pathogenic rs61755817 GRCh37 Chromosome 6, 42672195: 42672195
21 RPE65 NM_000329.2(RPE65): c.118G> A (p.Gly40Ser) single nucleotide variant Pathogenic rs61751281 GRCh37 Chromosome 1, 68912520: 68912520
22 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic/Likely pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
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.8805C> A (p.Tyr2935Ter) single nucleotide variant Pathogenic rs527236067 GRCh37 Chromosome 6, 64431122: 64431122
25 EYS NM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr) single nucleotide variant Pathogenic rs183589498 GRCh37 Chromosome 6, 64430718: 64430718
26 PDE6B NM_000283.3(PDE6B): c.1467+1G> C single nucleotide variant Pathogenic rs527236089 GRCh37 Chromosome 4, 652807: 652807
27 EYS NM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter) single nucleotide variant Pathogenic rs527236066 GRCh37 Chromosome 6, 64472506: 64472506
28 PRCD NM_001077620.2(PRCD): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs527236092 GRCh38 Chromosome 17, 76540143: 76540143
29 PDE6B NM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn) single nucleotide variant Pathogenic rs527236088 GRCh37 Chromosome 4, 654392: 654392
30 PRPH2 NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp) single nucleotide variant Pathogenic rs527236097 GRCh37 Chromosome 6, 42689663: 42689663
31 PRPH2 NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser) single nucleotide variant Pathogenic/Likely pathogenic rs527236098 GRCh37 Chromosome 6, 42689574: 42689574
32 ROM1 NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs) duplication Pathogenic rs527236104 GRCh38 Chromosome 11, 62613612: 62613612
33 RHO NM_000539.3(RHO): c.520G> A (p.Gly174Ser) single nucleotide variant Pathogenic rs527236103 GRCh37 Chromosome 3, 129249877: 129249877
34 RHO NM_000539.3(RHO): c.562G> A (p.Gly188Arg) single nucleotide variant Pathogenic rs527236100 GRCh37 Chromosome 3, 129251125: 129251125
35 CRX NM_000554.5(CRX): c.193G> C (p.Asp65His) single nucleotide variant Pathogenic rs527236062 GRCh38 Chromosome 19, 47836335: 47836335
36 CNGA1 NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs) deletion Pathogenic/Likely pathogenic rs527236058 GRCh37 Chromosome 4, 47953415: 47953415
37 EYS NM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs) duplication Pathogenic rs527236065 GRCh38 Chromosome 6, 64590910: 64590910
38 EYS NM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu) single nucleotide variant Pathogenic rs527236068 GRCh37 Chromosome 6, 64791763: 64791763
39 BEST1 NM_004183.3(BEST1): c.763C> T (p.Arg255Trp) single nucleotide variant Pathogenic rs372989281 GRCh38 Chromosome 11, 61958194: 61958194
40 TOPORS NM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs) deletion Pathogenic rs527236116 GRCh37 Chromosome 9, 32541966: 32541969
41 SNRNP200 NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His) single nucleotide variant Pathogenic rs527236113 GRCh37 Chromosome 2, 96958828: 96958828
42 SNRNP200 NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu) single nucleotide variant Pathogenic rs527236114 GRCh37 Chromosome 2, 96958823: 96958823
43 IMPG2 NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter) single nucleotide variant Pathogenic rs199867882 GRCh37 Chromosome 3, 100949961: 100949961
44 RDH12 NM_152443.2(RDH12): c.776delG (p.Glu260Argfs) deletion Pathogenic rs527236099 GRCh37 Chromosome 14, 68196025: 68196025
45 USH2A NM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly) single nucleotide variant Pathogenic rs527236119 GRCh37 Chromosome 1, 215956121: 215956121
46 USH2A NM_206933.2(USH2A): c.11156G> A (p.Arg3719His) single nucleotide variant Pathogenic/Likely pathogenic rs527236139 GRCh37 Chromosome 1, 215933077: 215933077
47 USH2A NM_206933.2(USH2A): c.2802T> G (p.Cys934Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201527662 GRCh37 Chromosome 1, 216419934: 216419934
48 USH2A NM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg) single nucleotide variant Pathogenic rs527236118 GRCh37 Chromosome 1, 215972456: 215972456
49 USH2A NM_206933.2(USH2A): c.4510dupA (p.Arg1504Lysfs) duplication Pathogenic rs727503731 GRCh37 Chromosome 1, 216348711: 216348711
50 PDE6B NM_000283.3(PDE6B): c.2193+1G> A single nucleotide variant Pathogenic rs727504075 GRCh37 Chromosome 4, 658734: 658734

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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.98 BBS10 C2orf71 PROM1 RP1 RPGR TULP1
2 cilium GO:0005929 9.73 BBS10 C2orf71 PROM1 RP1 RPGR TULP1
3 ciliary basal body GO:0036064 9.63 RPGR TOPORS USH2A
4 photoreceptor connecting cilium GO:0032391 9.58 RP1 TOPORS USH2A
5 photoreceptor disc membrane GO:0097381 9.5 PDE6A PDE6B RHO
6 Golgi-associated vesicle membrane GO:0030660 9.48 CNGB1 RHO
7 photoreceptor outer segment membrane GO:0042622 9.46 CNGA1 PROM1 RHO ROM1
8 photoreceptor inner segment membrane GO:0060342 9.37 RDH12 RHO
9 photoreceptor inner segment GO:0001917 9.35 C2orf71 RHO RP1 TULP1 USH2A
10 photoreceptor outer segment GO:0001750 9.32 C2orf71 CNGA1 CNGB1 PRCD PROM1 PRPH2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.83 BBS10 C2orf71 CLRN1 CNGA1 CNGB1 PDE6A
2 retina development in camera-type eye GO:0060041 9.8 PDE6B PRPH2 RHO RP1 RPE65 TULP1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 CNGA1 CNGB1 PDE6A PDE6B RHO
4 retina homeostasis GO:0001895 9.76 BBS10 CNGB1 RPE65 TULP1
5 retinoid metabolic process GO:0001523 9.75 RDH12 RHO RPE65
6 photoreceptor cell outer segment organization GO:0035845 9.73 C2orf71 CNGB1 RP1 TOPORS
7 regulation of cytosolic calcium ion concentration GO:0051480 9.71 CNGB1 PDE6A PDE6B
8 retina morphogenesis in camera-type eye GO:0060042 9.71 PROM1 ROM1 RP1 RPE65
9 detection of light stimulus involved in visual perception GO:0050908 9.69 CNGB1 RPE65 TULP1
10 sensory perception of light stimulus GO:0050953 9.67 CLRN1 RHO USH2A
11 phototransduction, visible light GO:0007603 9.65 PDE6B RHO RP1
12 rhodopsin mediated signaling pathway GO:0016056 9.65 CNGA1 CNGB1 PDE6A PDE6B RHO
13 response to light stimulus GO:0009416 9.61 RHO RPE65
14 retina layer formation GO:0010842 9.61 PROM1 TOPORS
15 GMP metabolic process GO:0046037 9.6 PDE6A PDE6B
16 retinal cone cell development GO:0046549 9.59 RP1 TOPORS
17 retinal rod cell development GO:0046548 9.58 RP1 TOPORS
18 protein localization to photoreceptor outer segment GO:1903546 9.57 C2orf71 TULP1
19 camera-type eye photoreceptor cell differentiation GO:0060219 9.56 PROM1 ROM1
20 cellular response to light stimulus GO:0071482 9.55 RHO RP1
21 detection of light stimulus GO:0009583 9.52 PDE6B RHO
22 photoreceptor cell maintenance GO:0045494 9.28 BBS10 CLRN1 CNGB1 PROM1 RDH12 RHO
23 visual perception GO:0007601 10.09 BBS10 C2orf71 CLRN1 CNGA1 CNGB1 PDE6A

Molecular functions related to Rhyns Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGA1 CNGB1
2 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 8.96 PDE6A PDE6B
3 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.62 CNGA1 CNGB1

Sources for Rhyns Syndrome

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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33 ICD10 via Orphanet
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70 UMLS via Orphanet
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