RP
MCID: RHY001
MIFTS: 33

Rhyns Syndrome (RP) malady

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

Summaries for Rhyns Syndrome

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Sources:
22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

MalaCards: Rhyns Syndrome, also known as retinitis pigmentosa, is related to retinitis pigmentosa and retinitis. Affiliated tissues include eye.

Description from OMIM:48 602152

Aliases & Classifications for Rhyns Syndrome

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Sources:
22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 44NIH Rare Diseases, 50Orphanet, 48OMIM, 21GeneTests, 23GTR, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

rhyns syndrome 44 50 48 63
retinitis pigmentosa 22 11 46 63
retinitis pigmentosa syndrome 44 21 23
retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia 44
retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia 50
progressive cone-rod dystrophy 63
cone-rod retinal dystrophy 22
tapetoretinal degeneration 22
pigmentary retinopathy 22
rod-cone dystrophy 22
rp 22


External Ids:

OMIM48 602152
MESH via Orphanet37 C537612
UMLS via Orphanet64 C1865794

Related Diseases for Rhyns Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Rhyns Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 516)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa11.5
2retinitis11.5
3cone dystrophy10.9
4cystoid macular edema10.7
5usher syndrome10.7
6retinal degeneration10.7
7leber congenital amaurosis10.7
8newfoundland rod-cone dystrophy10.6
9neuropathy ataxia retinitis pigmentosa syndrome10.6
10ataxia10.6
11posterior column ataxia with retinitis pigmentosa10.6
12retinitis pigmentosa 210.6
13microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.5
14blindness10.5
15stargardt disease10.5
16choroiditis10.5
17cataract10.5
18retinitis pigmentosa 310.5
19macular dystrophy10.5
20cone-rod dystrophy10.5
21choroideremia10.5
22night blindness10.5
23posterior column ataxia10.5
24muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
25retinitis pigmentosa 1710.4
26retinitis pigmentosa 910.4
27polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
28x-linked intellectual disability-retinitis pigmentosa syndrome10.4
29retinitis pigmentosa autosomal recessive10.4
30refsum disease10.4
31retinitis pigmentosa 1110.4
32hypercalcemia10.4
33bardet-biedl syndrome10.4
34nephronophthisis10.4
35retinitis pigmentosa 1310.4
36retinitis pigmentosa 1410.4
37retinitis pigmentosa 1810.4
38retinitis pigmentosa 1910.4
39retinitis pigmentosa 2010.4
40retinitis pigmentosa 2510.4
41retinitis pigmentosa 2610.4
42retinitis pigmentosa 2810.4
43retinitis pigmentosa 3010.4
44retinitis pigmentosa 3110.4
45retinitis pigmentosa 3310.4
46retinitis pigmentosa 3510.4
47retinitis pigmentosa 3610.4
48retinitis pigmentosa 410.4
49retinitis pigmentosa 4110.4
50retinitis pigmentosa 710.4

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



Diseases related to rhyns syndrome

Symptoms for Rhyns Syndrome

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

602152

Clinical features from OMIM:

602152

Drugs & Therapeutics for Rhyns Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Rhyns Syndrome

Drug clinical trials:

Search ClinicalTrials for Rhyns Syndrome

Search NIH Clinical Center for Rhyns Syndrome

Search CenterWatch for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Rhyns Syndrome:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa Multi-Gene Panels21
2 Retinitis Pigmentosa21 23 ZNF513

Anatomical Context for Rhyns Syndrome

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34MalaCards
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MalaCards organs/tissues related to Rhyns Syndrome:

34
Eye

Animal Models for Rhyns Syndrome or affiliated genes

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Publications for Rhyns Syndrome

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Variations for Rhyns Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Rhyns Syndrome:

1 (show all 12)
id Gene Name 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
5RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
6USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
7USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
8USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
9USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
10TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
11PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
12RPE65NM_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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Sources:
16Gene Expression Omnibus DataSets
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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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GO Terms for genes affiliated with Rhyns Syndrome

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Products for genes affiliated with Rhyns Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rhyns Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet