RHYNS
MCID: RHY001
MIFTS: 35

Rhyns Syndrome (RHYNS)

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

Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome 58 54 60 76 6 41 74
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 58 54
Retinitis Pigmentosa Syndrome 58 54
Rhyns 58 76
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 60
Retinitis Pigmentosa ) 41
Ciliopathies 45
Ciliopathy 17

Characteristics:

Orphanet epidemiological data:

60
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of one patient (last curated november 2018)


Classifications:



Summaries for Rhyns Syndrome

NIH Rare Diseases : 54 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 retinitis pigmentosa 3 and retinitis pigmentosa 2. An important gene associated with Rhyns Syndrome is TMEM67 (Transmembrane Protein 67). Affiliated tissues include kidney, bone and heart, and related phenotypes are ptosis and rod-cone dystrophy

OMIM : 58 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 : 76 RHYNS syndrome: An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia.

Related Diseases for Rhyns Syndrome

Diseases related to Rhyns Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 638)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 3 12.6
2 retinitis pigmentosa 2 12.5
3 retinitis pigmentosa 7 12.5
4 retinitis pigmentosa 4 12.5
5 retinitis pigmentosa 50 12.5
6 retinitis pigmentosa 1 12.5
7 retinitis pigmentosa 11 12.5
8 retinitis pigmentosa 9 12.5
9 retinitis pigmentosa 38 12.5
10 retinitis pigmentosa 14 12.5
11 retinitis pigmentosa 10 12.5
12 retinitis pigmentosa 46 12.5
13 retinitis pigmentosa 67 12.5
14 retinitis pigmentosa 13 12.5
15 retinitis pigmentosa 17 12.5
16 retinitis pigmentosa 28 12.5
17 retinitis pigmentosa 12 12.5
18 retinitis pigmentosa 18 12.5
19 retinitis pigmentosa 30 12.5
20 retinitis pigmentosa 25 12.5
21 retinitis pigmentosa 33 12.5
22 retinitis pigmentosa 19 12.5
23 retinitis pigmentosa 26 12.5
24 retinitis pigmentosa 31 12.5
25 retinitis pigmentosa 36 12.5
26 retinitis pigmentosa 20 12.5
27 retinitis pigmentosa 41 12.5
28 retinitis pigmentosa 57 12.5
29 retinitis pigmentosa 27 12.5
30 retinitis pigmentosa 45 12.5
31 retinitis pigmentosa 43 12.5
32 retinitis pigmentosa 42 12.5
33 retinitis pigmentosa 51 12.5
34 retinitis pigmentosa 23 12.5
35 retinitis pigmentosa 54 12.5
36 retinitis pigmentosa 58 12.5
37 retinitis pigmentosa 59 12.5
38 retinitis pigmentosa 62 12.5
39 retinitis pigmentosa 55 12.5
40 retinitis pigmentosa 49 12.5
41 retinitis pigmentosa 47 12.5
42 retinitis pigmentosa 44 12.5
43 retinitis pigmentosa 48 12.5
44 retinitis pigmentosa 60 12.5
45 retinitis pigmentosa 39 12.5
46 retinitis pigmentosa 82 with or without situs inversus 12.5
47 retinitis pigmentosa 40 12.5
48 retinitis pigmentosa 37 12.5
49 retinitis pigmentosa 66 12.5
50 retinitis pigmentosa 56 12.5

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



Diseases related to Rhyns Syndrome

Symptoms & Phenotypes for Rhyns Syndrome

Human phenotypes related to Rhyns Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 rod-cone dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000510
3 abnormality of the liver 60 33 hallmark (90%) Very frequent (99-80%) HP:0001392
4 nephronophthisis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000090
5 hypopituitarism 60 33 hallmark (90%) Very frequent (99-80%) HP:0040075
6 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
7 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
8 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
9 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
10 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
11 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
12 abnormality of body height 60 33 frequent (33%) Frequent (79-30%) HP:0000002
13 hypoplastic ilia 60 33 frequent (33%) Frequent (79-30%) HP:0000946
14 abnormality of the acetabulum 60 33 frequent (33%) Frequent (79-30%) HP:0003170
15 cranial nerve vi palsy 60 33 frequent (33%) Frequent (79-30%) HP:0006897
16 small epiphyses 60 33 frequent (33%) Frequent (79-30%) HP:0010585
17 cranial nerve paralysis 60 Frequent (79-30%)
18 abnormality of the skeletal system 60 Very frequent (99-80%)
19 conductive hearing impairment 33 HP:0000405
20 brachydactyly 33 HP:0001156
21 chronic kidney disease 33 HP:0012622
22 pituitary hypothyroidism 33 HP:0008245
23 radial bowing 33 HP:0002986
24 exotropia 33 HP:0000577
25 growth hormone deficiency 33 HP:0000824
26 abnormality of long bone morphology 60 Frequent (79-30%)
27 short femoral neck 33 HP:0100864

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
exotropia
retinitis pigmentosa
extinguished electroretinogram responses bilaterally

Skeletal Hands:
brachydactyly
thinning of diaphyseal cortex

Endocrine Features:
growth hormone deficiency
hypopituitarism
thyroid stimulating hormone deficiency

Skeletal:
delayed bone age
generalized osteopenia

Skeletal Pelvis:
hypoplastic iliac bones
irregular acetabular margins

Skeletal Spine:
rotoscoliosis

Growth Height:
short stature

Genitourinary Kidneys:
nephronophthisis
renal failure, progressive

Skeletal Limbs:
short femoral neck
bowed radii
epiphyseal hypoplasia
thin tubular bones
shortened long bones
more
Skeletal Skull:
thickened calvarium

Head And Neck Ears:
sensorineural deafness, unilateral severe

Neurologic Central Nervous System:
congenital palsy of right cranial nerve iii
congenital palsy of right cranial nerve iv
congenital palsy of left cranial nerve vi

Clinical features from OMIM:

602152

Drugs & Therapeutics for Rhyns Syndrome

Search Clinical Trials , NIH Clinical Center for Rhyns Syndrome

Cochrane evidence based reviews: ciliopathies

Genetic Tests for Rhyns Syndrome

Anatomical Context for Rhyns Syndrome

MalaCards organs/tissues related to Rhyns Syndrome:

42
Kidney, Bone, Heart, Eye, Pituitary, Cortex, Retina

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
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. ( 26275418 )
2015
3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ( 19508969 )
2009
4
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )
2007
5
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )
2001
6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ( 9375913 )
1997

Variations for Rhyns Syndrome

ClinVar genetic disease variations for Rhyns Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
2 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
3 IFT81 NM_014055.3(IFT81): c.1188+1G> A single nucleotide variant Uncertain significance rs864309657 GRCh38 Chromosome 12, 110163066: 110163066
4 IFT81 NM_014055.3(IFT81): c.1188+1G> A single nucleotide variant Uncertain significance rs864309657 GRCh37 Chromosome 12, 110600871: 110600871
5 IFT81 NM_014055.3(IFT81): c.2015_2019delACCGG (p.Asp672Alafs) deletion Uncertain significance rs864309658 GRCh37 Chromosome 12, 110656015: 110656019
6 IFT81 NM_014055.3(IFT81): c.2015_2019delACCGG (p.Asp672Alafs) deletion Uncertain significance rs864309658 GRCh38 Chromosome 12, 110218210: 110218214
7 NEK4 NM_003157.5(NEK4): c.2017dup (p.Ile673Asnfs) duplication Likely pathogenic rs770418305 GRCh37 Chromosome 3, 52775503: 52775503
8 NEK4 NM_003157.5(NEK4): c.2017dup (p.Ile673Asnfs) duplication Likely pathogenic rs770418305 GRCh38 Chromosome 3, 52741487: 52741487
9 TMEM67 NM_001142301.1(TMEM67): c.1046A> G (p.Asp349Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 93786223: 93786223
10 TMEM67 NM_001142301.1(TMEM67): c.1046A> G (p.Asp349Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 94798451: 94798451

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....