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

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Aliases & Classifications for Rhyns Syndrome

MalaCards integrated aliases for Rhyns Syndrome:

Name: Rhyns Syndrome ⁵⁸ ⁵⁴ ⁶⁰ ⁶ ⁴¹ ⁷⁴

Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia ⁵⁸ ⁵⁴

Retinitis Pigmentosa Syndrome ⁵⁸ ⁵⁴

Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome ⁶⁰

Retinitis Pigmentosa ) ⁴¹

Rhyns ⁵⁸

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 via Orphanet ⁴⁶ C537612

UMLS via Orphanet ⁷⁵ C1865794

Orphanet ⁶⁰ ORPHA140976

MedGen ⁴³ C1865794

UMLS ⁷⁴ C1865794

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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 bone, eye and kidney, 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)

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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 493)

#	Related Disease	Score
1	retinitis pigmentosa 3	12.6
2	retinitis pigmentosa 2	12.5
3	retinitis pigmentosa 4	12.5
4	retinitis pigmentosa 1	12.5
5	retinitis pigmentosa 9	12.5
6	retinitis pigmentosa 11	12.5
7	retinitis pigmentosa 28	12.5
8	retinitis pigmentosa 13	12.5
9	retinitis pigmentosa 17	12.5
10	retinitis pigmentosa 30	12.5
11	retinitis pigmentosa 12	12.5
12	retinitis pigmentosa 18	12.5
13	retinitis pigmentosa 51	12.5
14	retinitis pigmentosa 27	12.5
15	retinitis pigmentosa 45	12.5
16	retinitis pigmentosa-deafness syndrome	12.5
17	retinitis pigmentosa 7	12.4
18	retinitis pigmentosa 50	12.4
19	retinitis pigmentosa 38	12.4
20	retinitis pigmentosa 14	12.4
21	retinitis pigmentosa 46	12.4
22	retinitis pigmentosa 6	12.4
23	retinitis pigmentosa 67	12.4
24	retinitis pigmentosa 69	12.4
25	retinitis pigmentosa 10	12.4
26	retinitis pigmentosa 19	12.4
27	retinitis pigmentosa 25	12.4
28	retinitis pigmentosa 26	12.4
29	retinitis pigmentosa 31	12.4
30	retinitis pigmentosa 35	12.4
31	retinitis pigmentosa 33	12.4
32	retinitis pigmentosa 36	12.4
33	retinitis pigmentosa 41	12.4
34	polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	12.4
35	retinitis pigmentosa 57	12.4
36	retinitis pigmentosa 20	12.4
37	retinitis pigmentosa, late-adult onset	12.4
38	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	12.4
39	retinitis pigmentosa 23	12.4
40	retinitis pigmentosa 42	12.4
41	retinitis pigmentosa 54	12.4
42	retinitis pigmentosa 55	12.4
43	retinitis pigmentosa 58	12.4
44	retinitis pigmentosa 49	12.4
45	retinitis pigmentosa 47	12.4
46	retinitis pigmentosa 44	12.4
47	retinitis pigmentosa 43	12.4
48	retinitis pigmentosa 48	12.4
49	retinitis pigmentosa 59	12.4
50	retinitis pigmentosa 60	12.4

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 23)

#	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	renal insufficiency ³³			HP:0000083
18	cranial nerve paralysis ⁶⁰		Frequent (79-30%)
19	abnormality of the skeletal system ⁶⁰		Very frequent (99-80%)
20	conductive hearing impairment ³³			HP:0000405
21	pituitary hypothyroidism ³³			HP:0008245
22	growth hormone deficiency ³³			HP:0000824
23	abnormality of long bone morphology ⁶⁰		Frequent (79-30%)

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

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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

Bone, Eye, Kidney, Pituitary, Thyroid, Cortex

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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....Otto E.A.	2018
2	Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome. ( 11391657 )	Hedera P....Gorski J.L.	2001

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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	950	Molecular basis known ⁵⁸ Pathogenic ⁶ Unconfirmed association ⁵⁸	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	TMEM67	NM_001142301.1(TMEM67): c.1046A> G (p.Asp349Gly)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 8, 93786223: 93786223
4	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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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

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