RP
MCID: RHY001
MIFTS: 45

Rhyns Syndrome (RP) malady

Eye, Nephrological, Bone categories

Summaries for Rhyns Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 leber congenital amaurosis and blindness. 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 retina, and related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:47 602152

Aliases & Classifications for Rhyns Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000


Aliases & Descriptions:

rhyns syndrome 43 49 47 61
retinitis pigmentosa 21 10 45 61
retinitis pigmentosa syndrome 43 20 22
retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia 43
retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia 49
progressive cone-rod dystrophy 61
cone-rod retinal dystrophy 21
tapetoretinal degeneration 21
pigmentary retinopathy 21
rod-cone dystrophy 21
rp 21


External Ids:

OMIM47 602152
MESH via Orphanet36 C537612
UMLS via Orphanet62 C1865794

Related Diseases for Rhyns Syndrome

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 497)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.9TULP1, NRL, AIPL1, LRAT
2blindness30.7AIPL1, NRL, NR2E3
3cone-rod dystrophy 230.2TULP1, C8orf37, GUCA1B, AIPL1
4goldmann-favre syndrome29.9NRL, NR2E3
5retinitis pigmentosa autosomal recessive11.0
6cystoid macular edema10.7
7nephronophthisis10.6
8newfoundland rod-cone dystrophy10.6
9stargardt disease10.6
10posterior column ataxia with retinitis pigmentosa10.5
11retinitis pigmentosa 1710.5
12retinitis pigmentosa 210.5
13retinitis pigmentosa 1910.5
14macular dystrophy10.5
15neuropathy ataxia retinitis pigmentosa syndrome10.5
16autosomal dominant disease10.4
17autosomal recessive disease10.4
18posterior column ataxia10.4
19retinitis pigmentosa, digenic10.4
20usher syndrome type i10.4
21retinitis pigmentosa 310.4
22muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
23retinitis pigmentosa 1110.4
24retinitis pigmentosa, juvenile10.4
25cataract microcornea syndrome10.4
26microcornea, rod-cone dystrophy, cataract, and posterior staphyloma10.4
27refsum disease10.4
28retinitis pigmentosa 410.4
29retinitis pigmentosa 610.4
30retinitis pigmentosa 710.4
31polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
32mental retardation10.4
33rho-related retinitis pigmentosa10.4
34hypercalcemia10.4
35say syndrome10.4
36bardet-biedl syndrome10.3
37spastic quadriplegia retinitis pigmentosa mental retardation10.3
38retinitis pigmentosa 4110.3
39retinitis pigmentosa 1310.3
40retinitis pigmentosa 1410.3
41retinitis pigmentosa 1810.3
42retinitis pigmentosa 2010.3
43retinitis pigmentosa 2510.3
44retinitis pigmentosa 2610.3
45retinitis pigmentosa 2910.3
46retinitis pigmentosa 3010.3
47retinitis pigmentosa 3110.3
48retinitis pigmentosa 3310.3
49retinitis pigmentosa 3410.3
50retinitis pigmentosa 3510.3

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



Diseases related to rhyns syndrome

Clinical Features for Rhyns Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

602152

Clinical synopsis from OMIM:

602152

Drugs & Therapeutics for Rhyns Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Rhyns Syndrome:

33
Retina

Animal Models for Rhyns Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Rhyns Syndrome:

37
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

Sources:
51PubMed
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Articles related to Rhyns Syndrome:

idTitleAuthorsYear
1
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. (11391657)
2001
2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? (9375913)
1997

Genetic Variations for Rhyns Syndrome

Expression for genes affiliated with Rhyns Syndrome

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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Rhyns Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Rhyns Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a45 11 2412.2RGR, LRAT, AIPL1
211-cis-retinol45 2411.0RGR, LRAT

GO Terms for genes affiliated with Rhyns Syndrome

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:05089610.4ZNF513, NRL, PRCD
3rhodopsin mediated signaling pathwayGO:01605610.3GUCA1B, PDE6G
4retinal rod cell developmentGO:04654810.3TOPORS, NRL
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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Sources for Rhyns Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet