MCID: RHY001
MIFTS: 27

Rhyns Syndrome

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

Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome 57 53 59 40 73
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 57 53
Retinitis Pigmentosa Syndrome 57 53
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 59
Retinitis Pigmentosa ) 40

Characteristics:

Orphanet epidemiological data:

59
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
? autosomal recessive


Classifications:



Summaries for Rhyns Syndrome

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

Related Diseases for Rhyns Syndrome

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



Diseases related to Rhyns Syndrome

Symptoms & Phenotypes for Rhyns Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skel:
skeletal dysplasia

Endocrine:
growth hormone deficiency
hypopituitarism
thyroid stimulating hormone deficiency

GI:
liver fibrosis

GU:
nephronophthisis
renal failure

Eyes:
enophthalmos
retinitis pigmentosa
eyelid ptosis

Ears:
conduction deafness


Clinical features from OMIM:

602152

Human phenotypes related to Rhyns Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephronophthisis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000090
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 rod-cone dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000510
4 abnormality of the liver 59 32 hallmark (90%) Very frequent (99-80%) HP:0001392
5 hypopituitarism 59 32 hallmark (90%) Very frequent (99-80%) HP:0040075
6 abnormality of body height 59 32 frequent (33%) Frequent (79-30%) HP:0000002
7 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
8 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
9 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
10 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
11 hypoplastic ilia 59 32 frequent (33%) Frequent (79-30%) HP:0000946
12 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
13 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
14 abnormality of the acetabulum 59 32 frequent (33%) Frequent (79-30%) HP:0003170
15 cranial nerve vi palsy 59 32 frequent (33%) Frequent (79-30%) HP:0006897
16 small epiphyses 59 32 frequent (33%) Frequent (79-30%) HP:0010585
17 abnormality of the skeletal system 59 Very frequent (99-80%)
18 cranial nerve paralysis 59 Frequent (79-30%)
19 abnormality of long bone morphology 59 Frequent (79-30%)
20 renal insufficiency 32 HP:0000083
21 conductive hearing impairment 32 HP:0000405
22 growth hormone deficiency 32 HP:0000824
23 pituitary hypothyroidism 32 HP:0008245

Drugs & Therapeutics for Rhyns Syndrome

Search Clinical Trials , NIH Clinical Center for Rhyns Syndrome

Genetic Tests for Rhyns Syndrome

Anatomical Context for Rhyns Syndrome

MalaCards organs/tissues related to Rhyns Syndrome:

41
Liver, Eye, Pituitary, Thyroid, Kidney, Bone

Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

# Title Authors Year
1
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ( 29891882 )
2018
2
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )
2001

Variations for Rhyns Syndrome

Expression for Rhyns Syndrome

Search GEO for disease gene expression data for Rhyns Syndrome.

Pathways for Rhyns Syndrome

GO Terms for Rhyns Syndrome

Sources for Rhyns Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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