MCID: RHY001
MIFTS: 32

Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

About this section
Sources:
40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 52 48 54 68
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 48
 
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 54
Retinitis Pigmentosa Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

OMIM52 602152
Orphanet54 ORPHA140976
MESH via Orphanet40 C537612
UMLS via Orphanet69 C1865794

Summaries for Rhyns Syndrome

About this section
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 Array, Array and Array. An important gene associated with Rhyns Syndrome is USH2A (Usherin), and among its related pathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, pituitary and liver, and related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:52 602152

Related Diseases for Rhyns Syndrome

About this section

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



Diseases related to rhyns syndrome

Symptoms & Phenotypes for Rhyns Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

602152

Clinical features from OMIM:

602152

Human phenotypes related to Rhyns Syndrome:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephronophthisis64 54 Very frequent (99-80%) HP:0000090
2 ptosis64 54 Very frequent (99-80%) HP:0000508
3 rod-cone dystrophy64 54 Very frequent (99-80%) HP:0000510
4 abnormality of the skeletal system54 Very frequent (99-80%)
5 abnormality of the liver64 54 Very frequent (99-80%) HP:0001392
6 hypopituitarism64 54 Very frequent (99-80%) HP:0040075
7 abnormality of body height64 54 Frequent (79-30%) HP:0000002
8 multicystic kidney dysplasia64 54 Frequent (79-30%) HP:0000003
9 hearing impairment64 54 Frequent (79-30%) HP:0000365
10 deeply set eye64 54 Frequent (79-30%) HP:0000490
11 osteopenia64 54 Frequent (79-30%) HP:0000938
12 hypoplastic ilia64 54 Frequent (79-30%) HP:0000946
13 skeletal dysplasia64 54 Frequent (79-30%) HP:0002652
14 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
15 abnormality of the acetabulum64 54 Frequent (79-30%) HP:0003170
16 cranial nerve paralysis54 Frequent (79-30%)
17 cranial nerve vi palsy64 54 Frequent (79-30%) HP:0006897
18 small epiphyses64 54 Frequent (79-30%) HP:0010585
19 abnormality of long bone morphology54 Frequent (79-30%)
20 renal insufficiency64 HP:0000083
21 conductive hearing impairment64 HP:0000405
22 growth hormone deficiency64 HP:0000824
23 pituitary hypothyroidism64 HP:0008245

MGI Mouse Phenotypes related to Rhyns Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.3RDH12, RHO, ROM1, RP1, USH2A
2MP:00053917.5RDH12, RHO, ROM1, RP1, USH2A

Drugs & Therapeutics for Rhyns Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

About this section

Anatomical Context for Rhyns Syndrome

About this section

MalaCards organs/tissues related to Rhyns Syndrome:

36
Eye, Pituitary, Liver, Kidney, Bone

Publications for Rhyns Syndrome

About this section

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

Variations for Rhyns Syndrome

About this section

Clinvar genetic disease variations for Rhyns Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDE6BNM_ 000283.3(PDE6B): c.291C> A (p.Tyr97Ter)SNVPathogenic/ Likely pathogenicrs876657718GRCh37Chr 4, 619706: 619706
2USH2ANM_ 206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437

Expression for genes affiliated with Rhyns Syndrome

About this section
Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for genes affiliated with Rhyns Syndrome

About this section

GO Terms for genes affiliated with Rhyns Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:00603429.9RDH12, RHO
2photoreceptor connecting ciliumGO:00323919.7RP1, USH2A
3photoreceptor outer segmentGO:00017509.4RHO, RP1
4photoreceptor outer segment membraneGO:00426229.3RHO, ROM1
5photoreceptor inner segmentGO:00019179.2RHO, RP1, USH2A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1sensory perception of light stimulusGO:005095310.1RHO, USH2A
2retinoid metabolic processGO:000152310.0RDH12, RHO
3cellular response to light stimulusGO:00714829.8RHO, RP1
4phototransduction, visible lightGO:00076039.8RHO, RP1
5retina development in camera-type eyeGO:00600419.7RHO, RP1
6retina morphogenesis in camera-type eyeGO:00600429.6ROM1, RP1
7photoreceptor cell maintenanceGO:00454948.8RDH12, RHO, RP1, USH2A
8response to stimulusGO:00508968.8RDH12, RHO, RP1, USH2A
9visual perceptionGO:00076017.5RDH12, RHO, ROM1, RP1, USH2A

Sources for Rhyns Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet