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RHYNS
MCID: RHY001
MIFTS: 38

Rhyns Syndrome (RHYNS)

Categories: Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Rhyns Syndrome

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MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome 56 52 58 73 29 6 71
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 56 52
Retinitis Pigmentosa Syndrome 56 52
Rhyns 56 73
Syndrome, Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis and Skeletal Dysplasia 39
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 58
Ciliopathies 43

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:

31
rhyns syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases
Rare renal diseases


Sources

Summaries for Rhyns Syndrome

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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.

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Related Diseases for Rhyns Syndrome

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

(show top 50) (show all 309)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.3
2 retinal ciliopathy 12.3
3 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.3
4 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 12.3
5 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 12.2
6 nephropathy-associated ciliopathy 12.2
7 retinal ciliopathy due to mutation in nephronophthisis gene 12.2
8 retinal ciliopathy due to mutation in bardet-biedl gene 12.2
9 retinal ciliopathy due to mutation in the rpgr gene 12.2
10 retinal ciliopathy due to mutation in the rpgrip gene 12.2
11 retinal ciliopathy due to mutation in usher gene 12.2
12 neuropathy, ataxia, and retinitis pigmentosa 11.9
13 short-rib thoracic dysplasia 17 with or without polydactyly 11.8
14 short-rib thoracic dysplasia 7 with or without polydactyly 11.6
15 syndromic rod-cone dystrophy 11.6
16 stromme syndrome 11.6
17 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.6
18 cranioectodermal dysplasia 1 11.5
19 short-rib thoracic dysplasia 4 with or without polydactyly 11.5
20 short-rib thoracic dysplasia 9 with or without polydactyly 11.5
21 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
22 short-rib thoracic dysplasia 5 with or without polydactyly 11.5
23 bardet-biedl syndrome 12 11.5
24 short-rib thoracic dysplasia 14 with polydactyly 11.5
25 short-rib thoracic dysplasia 16 with or without polydactyly 11.5
26 short-rib thoracic dysplasia 20 with polydactyly 11.5
27 posterior column ataxia with retinitis pigmentosa 11.5
28 bardet-biedl syndrome 11.5
29 primary ciliary dyskinesia 11.4
30 nephronophthisis 1 11.4
31 short-rib thoracic dysplasia 1 with or without polydactyly 11.4
32 orofaciodigital syndrome i 11.4
33 asphyxiating thoracic dystrophy 11.4
34 usher syndrome 11.4
35 aldred syndrome 11.4
36 bardet-biedl syndrome 1 11.4
37 autosomal dominant polycystic kidney disease 11.4
38 polycystic kidney disease 4 with or without polycystic liver disease 11.4
39 arima syndrome 11.3
40 cranioectodermal dysplasia 2 11.3
41 bardet-biedl syndrome 2 11.3
42 bardet-biedl syndrome 5 11.3
43 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
44 acrocallosal syndrome 11.3
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.3
46 short-rib thoracic dysplasia 12 11.3
47 cranioectodermal dysplasia 3 11.3
48 cranioectodermal dysplasia 4 11.3
49 joubert syndrome 21 11.3
50 bardet-biedl syndrome 13 11.3

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



Diseases related to Rhyns Syndrome
Sources

Symptoms & Phenotypes for Rhyns Syndrome

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Human phenotypes related to Rhyns Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 abnormality of the liver 58 31 hallmark (90%) Very frequent (99-80%) HP:0001392
3 rod-cone dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000510
4 nephronophthisis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000090
5 hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0040075
6 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
7 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
8 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
9 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
10 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
11 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
12 hypoplastic ilia 58 31 frequent (33%) Frequent (79-30%) HP:0000946
13 abnormality of the acetabulum 58 31 frequent (33%) Frequent (79-30%) HP:0003170
14 cranial nerve vi palsy 58 31 frequent (33%) Frequent (79-30%) HP:0006897
15 abnormality of body height 58 31 frequent (33%) Frequent (79-30%) HP:0000002
16 small epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0010585
17 thickened calvaria 31 HP:0002684
18 short stature 31 HP:0004322
19 cranial nerve paralysis 58 Frequent (79-30%)
20 abnormality of the skeletal system 58 Very frequent (99-80%)
21 conductive hearing impairment 31 HP:0000405
22 brachydactyly 31 HP:0001156
23 abnormality of long bone morphology 58 Frequent (79-30%)
24 chronic kidney disease 31 HP:0012622
25 radial bowing 31 HP:0002986
26 growth hormone deficiency 31 HP:0000824
27 pituitary hypothyroidism 31 HP:0008245
28 short femoral neck 31 HP:0100864
29 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

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

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

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
Sources

Drugs & Therapeutics for Rhyns Syndrome

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Drugs for Rhyns Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved 10102-43-9 145068
2
Ethanol Approved 64-17-5 702
3 Liver Extracts
4 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
2 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Not yet recruiting NCT04355689 Phase 1, Phase 2 NPI-001
3 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2 SAR421869
4 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
5 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
6 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
7 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
8 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
9 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
10 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
11 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
12 Evaluation of the Visual Field on the Ground: Impact on Locomotion Rehabilitation Adults With Retinitis Pigmentosa With Loss of Peripheral Vision Not yet recruiting NCT03989622
13 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345
14 Clinical Study of a Single Ciliopathy: Alström Syndrome Terminated NCT02890550

Search NIH Clinical Center for Rhyns Syndrome

Cochrane evidence based reviews: ciliopathies

Sources

Genetic Tests for Rhyns Syndrome

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Genetic tests related to Rhyns Syndrome:

# Genetic test Affiliating Genes
1 Rhyns Syndrome 29 TMEM67
Sources

Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

40
Bone, Liver, Eye, Kidney, Pituitary, Cortex, Thyroid
Sources

Publications for Rhyns Syndrome

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Articles related to Rhyns Syndrome:

# Title Authors PMID Year
1
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 61 6 56
29891882 2018
2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 56 61 6
9375913 1997
3
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. 61 56
11391657 2001
4
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6
19508969 2009
5
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 6
17377820 2007
6
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis. 56
2745140 1989
7
High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis. 61
16940234 2006
Sources

Variations for Rhyns Syndrome

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ClinVar genetic disease variations for Rhyns Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_153704.6(TMEM67):c.1289A>G (p.Asp430Gly)SNV Pathogenic 592161 rs967792092 8:94798451-94798451 8:93786223-93786223
2 TMEM67 NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)SNV Pathogenic 1376 rs137853108 8:94777845-94777845 8:93765617-93765617

UniProtKB/Swiss-Prot genetic disease variations for Rhyns Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Asp430Gly VAR_081743

Sources

Expression for Rhyns Syndrome

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Search GEO for disease gene expression data for Rhyns Syndrome.
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Pathways for Rhyns Syndrome

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GO Terms for Rhyns Syndrome

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Sources for Rhyns Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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