MCID: SYN149
MIFTS: 16

Syndromic Rod-Cone Dystrophy

Categories: Eye diseases, Rare diseases

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
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA98661

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.

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 Top Affiliating Genes
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:



Diseases related to Syndromic Rod-Cone Dystrophy

Symptoms & Phenotypes for Syndromic Rod-Cone Dystrophy

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

Genetic Tests for Syndromic Rod-Cone Dystrophy

Anatomical Context for Syndromic Rod-Cone Dystrophy

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

41
Eye, Pineal

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
30932721 2019
2
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 38
30267408 2019
3
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa. 38
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
30453153 2018
5
Relative frequency of inherited retinal dystrophies in Brazil. 38
30374144 2018
6
Non-syndromic retinitis pigmentosa. 38
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
29753273 2018
8
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 38
29192808 2018
9
Autosomal Dominant Retinitis Pigmentosa. 38
30578488 2018
10
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review. 38
29171570 2017
11
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. 38
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
29457131 2017
13
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 38
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
28290600 2017
15
Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations. 38
27116670 2016
16
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 38
26908613 2016
17
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. 38
26868535 2016
18
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. 38
26662040 2016
19
Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation. 38
27684375 2016
20
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 38
25859010 2015
21
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 38
25413954 2015
22
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 38
25366773 2014
23
Prenylation defects in inherited retinal diseases. 38
24401286 2014
24
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. 38
23351521 2012
25
Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy. 38
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
20507924 2010
27
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 38
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
18484607 2008
29
Syndromic retinitis pigmentosa: ERG and phenotypic changes. 38
15785977 2005
30
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. 38
9222207 1997
31
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 38
9134546 1997
32
Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. 38
8689489 1996

Variations for Syndromic Rod-Cone Dystrophy

Expression for Syndromic Rod-Cone Dystrophy

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

Pathways for Syndromic Rod-Cone Dystrophy

GO Terms for Syndromic Rod-Cone Dystrophy

Sources for Syndromic Rod-Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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