RHYNS
MCID: RHY001
MIFTS: 38
|
Rhyns Syndrome (RHYNS)
Categories:
Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases
|
|
MalaCards integrated aliases for Rhyns Syndrome:
Characteristics:Orphanet epidemiological data:58
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of one patient (last curated november 2018) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Nephrological diseases Bone diseases
Orphanet: 58
![]() ![]() |
NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140976 Definition RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Epidemiology So far, it has been described in four males. Genetic counseling Autosomal 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 retinal ciliopathy. An important gene associated with Rhyns Syndrome is TMEM67 (Transmembrane Protein 67). The drugs Nitric Oxide and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and eye, and related phenotypes are ptosis and abnormality of the liver OMIM : 56 RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997). (602152) UniProtKB/Swiss-Prot : 73 RHYNS syndrome: An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Human phenotypes related to Rhyns Syndrome:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:602152 |
Drugs for Rhyns Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 14)
Cochrane evidence based reviews: ciliopathies |
MalaCards organs/tissues related to Rhyns Syndrome:40
Bone,
Liver,
Eye,
Kidney,
Pituitary,
Cortex,
Thyroid
|
Articles related to Rhyns Syndrome:
|
ClinVar genetic disease variations for Rhyns Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Rhyns Syndrome:73
|
Search
GEO
for disease gene expression data for Rhyns Syndrome.
|
|
|