Syndromic Rod-Cone Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SYN149 MIFTS: 16	Syndromic Rod-Cone Dystrophy Categories: Eye diseases, Rare diseases
Tissues Related diseases Publications Expand all tables

Sources

Aliases & Classifications for Syndromic Rod-Cone Dystrophy

MalaCards integrated aliases for Syndromic Rod-Cone Dystrophy:

Name: Syndromic Rod-Cone Dystrophy ⁵⁹

Syndromic Retinitis Pigmentosa ⁵⁹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare eye diseases

External Ids:

Orphanet ⁵⁹ ORPHA98661

Sources

Summaries for Syndromic Rod-Cone Dystrophy

MalaCards based summary : Syndromic Rod-Cone Dystrophy, also known as syndromic retinitis pigmentosa, is related to usher syndrome and retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome. Affiliated tissues include eye and pineal.

Sources

Related Diseases for Syndromic Rod-Cone Dystrophy

Diseases related to Syndromic Rod-Cone Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)

#	Related Disease	Score
1	usher syndrome	12.0
2	retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	11.9
3	retinitis pigmentosa-deafness syndrome	11.9
4	rhyns syndrome	11.8
5	retinitis pigmentosa, deafness, mental retardation, and hypogonadism	11.4
6	chromosome xp11.3 deletion syndrome	11.4
7	retinitis pigmentosa with or without skeletal anomalies	11.2
8	retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness	11.2
9	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	11.2
10	usher syndrome, type i	11.2
11	usher syndrome, type iia	11.2
12	usher syndrome, type iiia	11.2
13	usher syndrome, type ic	11.2
14	usher syndrome, type id	11.2
15	usher syndrome, type iic	11.2
16	neuroretinitis	10.6
17	retinitis	10.6
18	cone-rod dystrophy 2	10.1
19	retinitis pigmentosa	10.1
20	branchiootic syndrome 1	10.1
21	cone dystrophy	10.1
22	achromatopsia	10.1
23	macular retinal edema	10.1
24	learning disability	10.1
25	pathologic nystagmus	10.1
26	yemenite deaf-blind hypopigmentation syndrome	10.0
27	fundus dystrophy	10.0
28	hypopituitarism	10.0
29	inherited retinal disorder	10.0
30	night blindness, congenital stationary, autosomal dominant 2	9.9
31	noonan syndrome 1	9.9
32	strabismus	9.9
33	sturge-weber syndrome	9.9
34	trichomegaly	9.9
35	joubert syndrome 1	9.9
36	muscular dystrophy-dystroglycanopathy , type a, 1	9.9
37	meckel syndrome, type 1	9.9
38	mucopolysaccharidosis, type iiic	9.9
39	3-methylglutaconic aciduria, type iii	9.9
40	hyper-igd syndrome	9.9
41	oliver-mcfarlane syndrome	9.9
42	choroideremia	9.9
43	ataxia and polyneuropathy, adult-onset	9.9
44	aceruloplasminemia	9.9
45	meckel syndrome, type 3	9.9
46	retinitis pigmentosa 32	9.9
47	joubert syndrome 6	9.9
48	intraocular pressure quantitative trait locus	9.9
49	retinitis pigmentosa 39	9.9
50	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.9

Graphical network of the top 20 diseases related to Syndromic Rod-Cone Dystrophy:

Sources

Symptoms & Phenotypes for Syndromic Rod-Cone Dystrophy

Sources

Drugs & Therapeutics for Syndromic Rod-Cone Dystrophy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa	Recruiting	NCT03326336	Phase 1, Phase 2
2	Rate of Progression in USH2A Related Retinal Degeneration	Active, not recruiting	NCT03146078

Search NIH Clinical Center for Syndromic Rod-Cone Dystrophy

Sources

Genetic Tests for Syndromic Rod-Cone Dystrophy

Sources

Anatomical Context for Syndromic Rod-Cone Dystrophy

MalaCards organs/tissues related to Syndromic Rod-Cone Dystrophy:

⁴¹

Eye, Pineal

Sources

Publications for Syndromic Rod-Cone Dystrophy

Articles related to Syndromic Rod-Cone Dystrophy:

(show all 32)

#	Title	Authors	PMID	Year
1	Dominant ARL3-related retinitis pigmentosa. ³⁸	Holtan JP...Houge G	30932721	2019
2	Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. ³⁸	Mejecase C...Audo I	30267408	2019
3	Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa. ³⁸	Megaw R...Hurd TW	30464047	2018
4	Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa. ³⁸	Sanjurjo-Soriano C...Kalatzis V	30453153	2018
5	Relative frequency of inherited retinal dystrophies in Brazil. ³⁸	Motta FL...Sallum JMF	30374144	2018
6	Non-syndromic retinitis pigmentosa. ³⁸	Verbakel SK...Klevering BJ	29597005	2018
7	Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line. ³⁸	Zhang X...McLenachan S	29753273	2018
8	A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ³⁸	Yusuf IH...MacLaren RE	29192808	2018
9	Autosomal Dominant Retinitis Pigmentosa. ³⁸	Tsang SH...Sharma T	30578488	2018
10	Retinitis pigmentosa genes implicated in South Asian populations: a systematic review. ³⁸	Zafar S...Baig R	29171570	2017
11	Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. ³⁸	Nguyen TT...Haer-Wigman L	28442542	2017
12	Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ³⁸	Weihbrecht K...Sheffield VC	29457131	2017
13	Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. ³⁸	Xu M...Schorderet DF	28285769	2017
14	Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ³⁸	D'Angelo R...Sidoti A	28290600	2017
15	Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations. ³⁸	Jacobson SG...Cideciyan AV	27116670	2016
16	Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. ³⁸	Xu M...Chen R	26908613	2016
17	[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. ³⁸	Chebil A...El Matri L	26868535	2016
18	ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. ³⁸	Xu M...Chen R	26662040	2016
19	Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation. ³⁸	Hartley SW...Coon SL	27684375	2016
20	Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). ³⁸	Haer-Wigman L...Ben-Yosef T	25859010	2015
21	The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. ³⁸	Garcia-Cazorla A...Saudubray JM	25413954	2015
22	Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. ³⁸	Pierrottet CO...Bertelli M	25366773	2014
23	Prenylation defects in inherited retinal diseases. ³⁸	Roosing S...Siemiatkowska AM	24401286	2014
24	The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. ³⁸	Kersten FF...Kremer H	23351521	2012
25	Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy. ³⁸	Sahni JN...Parmeggiani F	22131873	2011
26	Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. ³⁸	McGee TL...Berson EL	20507924	2010
27	Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. ³⁸	Abu Safieh L...Alkuraya FS	19858128	2010
28	UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. ³⁸	Baux D...Roux AF	18484607	2008
29	Syndromic retinitis pigmentosa: ERG and phenotypic changes. ³⁸	Fleischhauer J...Niemeyer G	15785977	2005
30	Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. ³⁸	Santorelli FM...DiMauro S	9222207	1997
31	The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. ³⁸	Iannaccone A...Pannarale MR	9134546	1997
32	Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. ³⁸	Iannaccone A...Pannarale MR	8689489	1996

Sources

Genes for Syndromic Rod-Cone Dystrophy

Sources

Variations for Syndromic Rod-Cone Dystrophy

Sources

Expression for Syndromic Rod-Cone Dystrophy

Search GEO for disease gene expression data for Syndromic Rod-Cone Dystrophy.

Sources

Pathways for Syndromic Rod-Cone Dystrophy

Sources

GO Terms for Syndromic Rod-Cone Dystrophy

Sources

Sources for Syndromic Rod-Cone Dystrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia