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RHYNS
MCID: RHY001
MIFTS: 42

Rhyns Syndrome (RHYNS)

Categories: Bone diseases, Ear 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 57 20 58 72 29 6 70
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia 57 20
Retinitis Pigmentosa Syndrome 57 20
Rhyns 57 72
Syndrome, Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis and Skeletal Dysplasia 39
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome 58
Ciliopathies 44

Characteristics:

Orphanet epidemiological data:

58
rhyns syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
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 Ear diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases
Rare renal diseases


Sources

Summaries for Rhyns Syndrome

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GARD : 20 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.

MalaCards based summary : Rhyns Syndrome, also known as retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia, is related to short-rib thoracic dysplasia 1 with or without polydactyly and ciliopathy. An important gene associated with Rhyns Syndrome is TMEM67 (Transmembrane Protein 67). The drugs Ethanol and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and liver, and related phenotypes are ptosis and abnormality of the liver

OMIM® : 57 RHYNS syndrome is characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (Di Rocco et al., 1997). (602152) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 180)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 30.9 TMEM67 TMEM231
2 ciliopathy 30.8 TMEM67 TMEM231 NEK4
3 bardet-biedl syndrome 29.9 TMEM67 TMEM231
4 senior-loken syndrome 1 29.8 TMEM67 TMEM231
5 orofaciodigital syndrome 29.8 TMEM67 TMEM231
6 polycystic kidney disease 4 with or without polycystic liver disease 29.6 TMEM67 TMEM231
7 meckel syndrome, type 3 29.5 TMEM67 TMEM231
8 nephronophthisis 29.5 TMEM67 TMEM231
9 asphyxiating thoracic dystrophy 29.5 TMEM67 TMEM231
10 meckel syndrome, type 1 29.3 TMEM67 TMEM231
11 leber plus disease 29.3 TMEM67 TMEM231
12 meckel syndrome, type 2 29.2 TMEM67 TMEM231
13 meckel syndrome, type 6 29.2 TMEM67 TMEM231
14 coloboma of macula 29.1 TMEM67 TMEM231
15 neuropathy, ataxia, and retinitis pigmentosa 11.5
16 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.4
17 posterior column ataxia with retinitis pigmentosa 11.4
18 usher syndrome 11.3
19 aldred syndrome 11.3
20 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.3
21 short-rib thoracic dysplasia 17 with or without polydactyly 11.3
22 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.2
23 retinitis pigmentosa with or without skeletal anomalies 11.1
24 chromosome xp11.3 deletion syndrome 11.1
25 x-linked retinitis pigmentosa and sinorespiratory infections 11.1
26 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.1
27 short-rib thoracic dysplasia 7 with or without polydactyly 11.1
28 short-rib thoracic dysplasia 9 with or without polydactyly 11.0
29 short-rib thoracic dysplasia 4 with or without polydactyly 11.0
30 short-rib thoracic dysplasia 5 with or without polydactyly 11.0
31 short-rib thoracic dysplasia 10 with or without polydactyly 11.0
32 short-rib thoracic dysplasia 14 with polydactyly 11.0
33 short-rib thoracic dysplasia 6 with or without polydactyly 11.0
34 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
35 short-rib thoracic dysplasia 11 with or without polydactyly 11.0
36 short-rib thoracic dysplasia 16 with or without polydactyly 11.0
37 short-rib thoracic dysplasia 2 with or without polydactyly 11.0
38 short-rib thoracic dysplasia 8 with or without polydactyly 11.0
39 short-rib thoracic dysplasia 15 with polydactyly 11.0
40 short-rib thoracic dysplasia 18 with polydactyly 11.0
41 short-rib thoracic dysplasia 19 with or without polydactyly 11.0
42 short-rib thoracic dysplasia 20 with polydactyly 11.0
43 cranioectodermal dysplasia 10.9
44 nephronophthisis 1 10.9
45 short-rib thoracic dysplasia 12 10.9
46 joubert syndrome 21 10.9
47 short-rib thoracic dysplasia 13 with or without polydactyly 10.9
48 retinal degeneration 10.4
49 polydactyly 10.3
50 polycystic kidney disease 10.3

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



Diseases related to Rhyns Syndrome
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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 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
9 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
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 pituitary hypothyroidism 31 HP:0008245
27 short femoral neck 31 HP:0100864
28 exotropia 31 HP:0000577
29 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Ethanol Approved 64-17-5 702
2
Nitric Oxide Approved 10102-43-9 145068
3 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
2 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
5 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
6 Clinical Study of a Single Ciliopathy: Alström Syndrome Terminated NCT02890550

Search NIH Clinical Center for Rhyns Syndrome

Cochrane evidence based reviews: ciliopathies

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Genetic Tests for Rhyns Syndrome

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Genetic tests related to Rhyns Syndrome:

# Genetic test Affiliating Genes
1 Rhyns Syndrome 29 TMEM67
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Anatomical Context for Rhyns Syndrome

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MalaCards organs/tissues related to Rhyns Syndrome:

40
Eye, Kidney, Liver, Cortex, Heart, Pituitary, Bone
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 57 6
29891882 2018
2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 61 57 6
9375913 1997
3
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. 57 61
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. 57
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 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM67 NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) SNV Pathogenic 1376 rs137853108 GRCh37: 8:94777845-94777845
GRCh38: 8:93765617-93765617
2 TMEM67 NM_153704.6(TMEM67):c.1289A>G (p.Asp430Gly) SNV Pathogenic 592161 rs967792092 GRCh37: 8:94798451-94798451
GRCh38: 8:93786223-93786223
3 TMEM231 NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val) SNV Pathogenic 812432 rs1597041976 GRCh37: 16:75579810-75579810
GRCh38: 16:75545912-75545912
4 TMEM67 NM_153704.6(TMEM67):c.2908-1G>T SNV Pathogenic 931538 GRCh37: 8:94828599-94828599
GRCh38: 8:93816371-93816371
5 TMEM231 NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) SNV Likely pathogenic 445818 rs376555896 GRCh37: 16:75589770-75589770
GRCh38: 16:75555872-75555872
6 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Likely pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
7 NEK4 NM_003157.6(NEK4):c.2017dup (p.Ile673fs) Duplication Likely pathogenic 266082 rs770418305 GRCh37: 3:52775502-52775503
GRCh38: 3:52741486-52741487
8 TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) SNV Uncertain significance 1377 rs111619594 GRCh37: 8:94793190-94793190
GRCh38: 8:93780962-93780962
9 TMEM67 NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile) SNV Uncertain significance 931258 GRCh37: 8:94798543-94798543
GRCh38: 8:93786315-93786315
10 TMEM67 NM_153704.6(TMEM67):c.406+1349G>A SNV Uncertain significance 931688 GRCh37: 8:94772153-94772153
GRCh38: 8:93759925-93759925
11 TMEM67 NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) SNV Uncertain significance 449519 rs202036490 GRCh37: 8:94784818-94784818
GRCh38: 8:93772590-93772590
12 IFT81 NM_014055.4(IFT81):c.1188+1G>A SNV Uncertain significance 218892 rs864309657 GRCh37: 12:110600871-110600871
GRCh38: 12:110163066-110163066
13 IFT81 NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs) Deletion Uncertain significance 218893 rs864309658 GRCh37: 12:110656013-110656017
GRCh38: 12:110218208-110218212

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

72
# 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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Cellular components related to Rhyns Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.5 TMEM67 TMEM231 NEK4
2 cilium GO:0005929 9.33 TMEM67 TMEM231 NEK4
3 ciliary membrane GO:0060170 9.26 TMEM67 TMEM231
4 MKS complex GO:0036038 8.96 TMEM67 TMEM231
5 ciliary transition zone GO:0035869 8.8 TMEM67 TMEM231 NEK4

Biological processes related to Rhyns Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 TMEM67 TMEM231
2 cell projection organization GO:0030030 8.62 TMEM67 TMEM231
Sources

Sources for Rhyns Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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