MCID: RHY001
MIFTS: 22

Rhyns Syndrome malady

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

Aliases & Classifications for Rhyns Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhyns Syndrome:

Name: Rhyns Syndrome 45 51 65
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 45
 
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 51
Retinitis Pigmentosa Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
rhyns syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)

Classifications:



External Ids:

Orphanet51 140976
MESH via Orphanet37 C537612
UMLS via Orphanet66 C1865794
UMLS65 C1865794

Summaries for Rhyns Syndrome

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MalaCards based summary: Rhyns Syndrome, also known as retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia, is related to neuropathy ataxia retinitis pigmentosa syndrome and osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome, and has symptoms including pituitary hypothyroidism, skeletal dysplasia and growth hormone deficiency. An important gene associated with Rhyns Syndrome is USH2A (Usher Syndrome 2A (Autosomal Recessive, Mild)). Affiliated tissues include eye, pituitary and bone.

Related Diseases for Rhyns Syndrome

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



Diseases related to rhyns syndrome

Symptoms for Rhyns Syndrome

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HPO human phenotypes related to Rhyns Syndrome:

(show all 9)
id Description Frequency HPO Source Accession
1 pituitary hypothyroidism HP:0008245
2 skeletal dysplasia HP:0002652
3 growth hormone deficiency HP:0000824
4 rod-cone dystrophy HP:0000510
5 ptosis HP:0000508
6 deeply set eye HP:0000490
7 conductive hearing impairment HP:0000405
8 nephronophthisis HP:0000090
9 renal insufficiency HP:0000083

Drugs & Therapeutics for Rhyns Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

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Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

33
Eye, Pituitary, Bone, Testis, Skin

Animal Models for Rhyns Syndrome or affiliated genes

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Publications for Rhyns Syndrome

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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

Variations for Rhyns Syndrome

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Clinvar genetic disease variations for Rhyns Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
2USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
3USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460

Expression for genes affiliated with Rhyns Syndrome

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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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GO Terms for genes affiliated with Rhyns Syndrome

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Sources for Rhyns Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet