|
MCID: RHY001
MIFTS: 27
|
Rhyns Syndrome
Categories:
Rare diseases, Eye diseases, Nephrological diseases, Bone diseases
|
|
|
|
MalaCards integrated aliases for Rhyns Syndrome:
Characteristics:Orphanet epidemiological data:59
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Classifications:
MalaCards categories:
Global: Rare diseases Anatomical: Eye diseases Nephrological diseases Bone diseases |
|
NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140976Disease definitionRHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.EpidemiologySo far, it has been described in four males.Genetic counselingAutosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.Visit the Orphanet disease page for more resources.
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. Affiliated tissues include liver, eye and pituitary, and related phenotypes are nephronophthisis and ptosis
Description from OMIM:
602152
|
Diseases related to Rhyns Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 15)
Graphical network of the top 20 diseases related to Rhyns Syndrome:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602152Human phenotypes related to Rhyns Syndrome:59 32 (show all 23)
|
|
|
MalaCards organs/tissues related to Rhyns Syndrome:41
Liver,
Eye,
Pituitary,
Thyroid,
Kidney,
Bone
|
Articles related to Rhyns Syndrome:
|
|
|
|
Search
GEO
for disease gene expression data for Rhyns Syndrome.
|
|
|
|