Rhyns Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RHYNS MCID: RHY001 MIFTS: 35	Rhyns Syndrome (RHYNS) Categories: Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare eye diseases

Rare renal diseases

External Ids:

OMIM ⁵⁸ 602152

MeSH ⁴⁵ D000072661 D007018

MESH via Orphanet ⁴⁶ C537612

UMLS via Orphanet ⁷⁵ C1865794

Orphanet ⁶⁰ ORPHA140976

MedGen ⁴³ C1865794

EFO ¹⁷ EFO_0003900

UMLS ⁷⁴ C1865794

Sources

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.

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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
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:

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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

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Drugs & Therapeutics for Rhyns Syndrome

Search Clinical Trials , NIH Clinical Center for Rhyns Syndrome

Cochrane evidence based reviews: ciliopathies

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Genetic Tests for Rhyns Syndrome

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Anatomical Context for Rhyns Syndrome

MalaCards organs/tissues related to Rhyns Syndrome:

⁴²

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

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Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

#	Title	Authors	Year
1	Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. ( 29891882 )	Brancati F...Undiagnosed Disease Network Italy	2018
2	IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. ( 26275418 )	Perrault I...Hildebrandt F	2015
3	Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ( 19508969 )	Otto EA...Hildebrandt F	2009
4	Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )	Consugar MB...Harris PC	2007
5	Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )	Hedera P...Gorski JL	2001
6	Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? ( 9375913 )	Di Rocco M...Borrone C	1997

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Genes for Rhyns Syndrome

Genes related to Rhyns Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM67	Transmembrane Protein 67	Protein Coding	966.99	Molecular basis known ⁵⁸ Pathogenic ⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Publications (show sections)	29891882 17377820 19508969 (more) 9375913

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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

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Expression for Rhyns Syndrome

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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¹⁰ dbSNP

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶³ PubMed

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⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Rhyns Syndrome (RHYNS)

Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

Classifications:

External Ids:

Summaries for Rhyns Syndrome

Related Diseases for Rhyns Syndrome

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

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

Symptoms & Phenotypes for Rhyns Syndrome

Human phenotypes related to Rhyns Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Rhyns Syndrome

Articles related to Rhyns Syndrome:

Genes for Rhyns Syndrome

Genes related to Rhyns Syndrome (1 elite genes):

Variations for Rhyns Syndrome

ClinVar genetic disease variations for Rhyns Syndrome:

Expression for Rhyns Syndrome

Pathways for Rhyns Syndrome

GO Terms for Rhyns Syndrome

Sources for Rhyns Syndrome