RP
MCID: RHY001
MIFTS: 49

Rhyns Syndrome (RP) malady

Eye diseases, Nephrological diseases, Bone diseases categories

Summaries for Rhyns Syndrome

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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 retinal disease and retinal degeneration. An important gene associated with Rhyns Syndrome is NRL (neural retina leucine zipper), and among its related pathways are Visual phototransduction and Visual Cycle in Retinal Rods. The compounds vitamin a and 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:46 602152

Aliases & Classifications for Rhyns Syndrome

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Sources:
21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Nephrological diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

rhyns syndrome 42 48 46 60
retinitis pigmentosa 21 10 44 60
retinitis pigmentosa syndrome 42 20 22
retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia 42
retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia 48
progressive cone-rod dystrophy 60
tapetoretinal degeneration 21
cone-rod retinal dystrophy 21
pigmentary retinopathy 21
rod-cone dystrophy 21
rp 21


External Ids:

OMIM46 602152
MESH via Orphanet35 C537612
UMLS via Orphanet61 C1865794

Related Diseases for Rhyns Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Rhyns Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 495)
idRelated DiseaseScoreTop Affiliating Genes
1retinal disease31.3GUCA1B, NR2E3, FSCN2, NRL, AIPL1, ROM1
2retinal degeneration31.2RP2, TULP1, PDE6G, GUCA1B, PRCD, NR2E3
3leber congenital amaurosis30.9LRAT, TULP1, NRL, AIPL1
4night blindness30.6NR2E3, RP2, ZNF513, LRAT
5cone-rod dystrophy 230.4GUCA1B, TULP1, C8orf37, AIPL1
6fundus dystrophy30.1TULP1, ARL6, AIPL1, LRAT, ROM1
7retinitis30.1RP2
8keratoconus29.9AIPL1
9cone-rod dystrophy10.7
10macular retinal edema10.7
11usher syndrome10.7
12cone dystrophy10.7
13cystoid macular edema10.7
14neuropathy ataxia retinitis pigmentosa syndrome10.6
15newfoundland rod-cone dystrophy10.6
16posterior column ataxia with retinitis pigmentosa10.5
17stargardt disease10.5
18cataract10.5
19choroiditis10.5
20choroideremia10.4
21autosomal dominant disease10.4
22autosomal recessive disease10.4
23muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
24x-linked intellectual disability-retinitis pigmentosa syndrome10.4
25retinitis pigmentosa autosomal recessive10.4
26microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.4
27refsum disease10.4
28retinitis pigmentosa 310.4
29retinitis pigmentosa 1110.4
30retinitis pigmentosa 910.4
31polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
32hypercalcemia10.3
33bardet-biedl syndrome10.3
34nephronophthisis10.3
35x-linked disease10.3
36spastic quadriplegia retinitis pigmentosa mental retardation10.3
37retinitis pigmentosa 4110.3
38retinitis pigmentosa 1310.3
39retinitis pigmentosa 1410.3
40retinitis pigmentosa 1710.3
41retinitis pigmentosa 1810.3
42retinitis pigmentosa 1910.3
43retinitis pigmentosa 2010.3
44retinitis pigmentosa 2510.3
45retinitis pigmentosa 2610.3
46retinitis pigmentosa 3010.3
47retinitis pigmentosa 3110.3
48retinitis pigmentosa 3310.3
49retinitis pigmentosa 3510.3
50retinitis pigmentosa 3610.3

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



Diseases related to rhyns syndrome

Clinical Features for Rhyns Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

602152

Clinical synopsis from OMIM:

602152

Drugs & Therapeutics for Rhyns Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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Sources:
20GeneTests, 22GTR
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Genetic tests related to Rhyns Syndrome:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa Multi-Gene Panels20
2 Retinitis Pigmentosa20 22 ZNF513

Anatomical Context for Rhyns Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Rhyns Syndrome:

32
Eye, Retina

Animal Models for Rhyns Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Rhyns Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9ROM1, LRAT, AIPL1, NRL, NR2E3, ARL6
2MP:00053919.4TULP1, ROM1, LRAT, AIPL1, NRL, NR2E3

Publications for Rhyns Syndrome

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Genetic Variations for Rhyns Syndrome

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Expression for genes affiliated with Rhyns Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rhyns Syndrome

Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for genes affiliated with Rhyns Syndrome

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Rhyns Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Rhyns Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a44 11 2412.2RGR, LRAT, AIPL1
211-cis-retinol44 2411.0RGR, LRAT

GO Terms for genes affiliated with Rhyns Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Rhyns Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:00579110.3LRAT, CA4
2photoreceptor disc membraneGO:09738110.2GUCA1B, PDE6G
3photoreceptor inner segmentGO:00191710.0AIPL1, TULP1

Biological processes related to Rhyns Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:00760210.4TULP1, NR2E3, RGR
2response to stimulusGO:05089610.4NRL, ZNF513, PRCD
3rhodopsin mediated signaling pathwayGO:01605610.3PDE6G, GUCA1B
4retinal rod cell developmentGO:04654810.3NRL, TOPORS
5phototransduction, visible lightGO:00760310.3LRAT, AIPL1, GUCA1B, PDE6G
6eye photoreceptor cell developmentGO:04246210.2FSCN2, TULP1
7regulation of rhodopsin mediated signaling pathwayGO:02240010.0GUCA1B, PDE6G
8visual perceptionGO:0076019.7ZNF513, RP2, TULP1, PDE6G, GUCA1B, ARL6

Products for genes affiliated with Rhyns Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rhyns Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet