MCID: SYN149
MIFTS: 21

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 58
Syndromic Retinitis Pigmentosa 58 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA98661

Summaries for Syndromic Rod-Cone Dystrophy

MalaCards based summary : Syndromic Rod-Cone Dystrophy, also known as syndromic retinitis pigmentosa, is related to cone dystrophy and retinitis pigmentosa. An important gene associated with Syndromic Rod-Cone Dystrophy is EPG5 (Ectopic P-Granules Autophagy Protein 5 Homolog). Affiliated tissues include eye, bone marrow 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 all 50)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 30.2 SCAPER CC2D2A
2 retinitis pigmentosa 28.6 SCAPER POC5 KIF11 EPG5 CC2D2A
3 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.1
4 usher syndrome, type iia 10.2
5 retinitis pigmentosa-deafness syndrome 10.2
6 yemenite deaf-blind hypopigmentation syndrome 10.2
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
8 usher syndrome 10.2
9 usher syndrome type 2 10.2
10 night blindness 10.2
11 pathologic nystagmus 10.2
12 spinocerebellar ataxia 29 10.1
13 cone-rod dystrophy 2 10.1
14 joubert syndrome 1 10.1
15 meckel syndrome, type 1 10.1
16 proteinuria, chronic benign 10.1
17 neuroretinitis 10.1
18 achromatopsia 10.1
19 retinitis 10.1
20 fundus dystrophy 10.1
21 learning disability 10.1
22 ciliopathy 10.1
23 inherited retinal disorder 10.1
24 night blindness, congenital stationary, autosomal dominant 2 10.0
25 strabismus 10.0
26 mucopolysaccharidosis, type iiic 10.0
27 3-methylglutaconic aciduria, type iii 10.0
28 joubert syndrome 3 10.0
29 muscular dystrophy-dystroglycanopathy , type b, 3 10.0
30 muscular dystrophy-dystroglycanopathy , type c, 3 10.0
31 retinitis pigmentosa 39 10.0
32 retinitis pigmentosa 73 10.0
33 retinitis pigmentosa 76 10.0
34 mucopolysaccharidosis-plus syndrome 10.0
35 stargardt disease 10.0
36 autosomal recessive disease 10.0
37 sensorineural hearing loss 10.0
38 keratoconus 10.0
39 myopia 10.0
40 mucopolysaccharidosis iii 10.0
41 bardet-biedl syndrome 10.0
42 macular retinal edema 10.0
43 retinal disease 10.0
44 retinal degeneration 10.0
45 chorioretinitis 10.0
46 mechanical strabismus 10.0
47 muscle eye brain disease 10.0
48 rare genetic deafness 10.0
49 primary autosomal recessive microcephaly 9.5 POC5 KIF11
50 microcephaly 9.3 KIF11 EPG5 CC2D2A

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

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:

40
Eye, Bone Marrow, Pineal, Brain

Publications for Syndromic Rod-Cone Dystrophy

Articles related to Syndromic Rod-Cone Dystrophy:

(show all 43)
# Title Authors PMID Year
1
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. 61
33124039 2021
2
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene. 61
33360097 2020
3
USH2A-retinopathy: From genetics to therapeutics. 61
33121974 2020
4
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association. 61
33002628 2020
5
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. 61
32822874 2020
6
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. 61
32675063 2020
7
Using inducible lentiviral vectors to generate induced pluripotent stem cell line ZOCi001-A from peripheral blood cells of a patient with CRB1-/- retinitis pigmentosa. 61
32387899 2020
8
A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression. 61
32031697 2020
9
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing. 61
31904091 2020
10
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019
11
Dominant ARL3-related retinitis pigmentosa. 61
30932721 2019
12
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 61
30267408 2019
13
Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome. 61
31620478 2019
14
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa. 61
30453153 2018
15
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa. 61
30464047 2018
16
Relative frequency of inherited retinal dystrophies in Brazil. 61
30374144 2018
17
Non-syndromic retinitis pigmentosa. 61
29597005 2018
18
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line. 61
29753273 2018
19
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 61
29192808 2018
20
Autosomal Dominant Retinitis Pigmentosa. 61
30578488 2018
21
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review. 61
29171570 2017
22
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. 61
29457131 2017
23
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. 61
28442542 2017
24
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 61
28285769 2017
25
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. 61
28290600 2017
26
Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations. 61
27116670 2016
27
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 61
26908613 2016
28
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. 61
26868535 2016
29
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. 61
26662040 2016
30
Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation. 61
27684375 2016
31
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 61
25859010 2015
32
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
33
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 61
25366773 2014
34
Prenylation defects in inherited retinal diseases. 61
24401286 2014
35
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. 61
23351521 2012
36
Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy. 61
22131873 2011
37
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 61
20507924 2010
38
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 61
19858128 2010
39
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. 61
18484607 2008
40
Syndromic retinitis pigmentosa: ERG and phenotypic changes. 61
15785977 2005
41
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. 61
9222207 1997
42
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 61
9134546 1997
43
Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. 61
8689489 1996

Variations for Syndromic Rod-Cone Dystrophy

ClinVar genetic disease variations for Syndromic Rod-Cone Dystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPG5 NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter) SNV Pathogenic 812308 rs886276412 GRCh37: 18:43496109-43496109
GRCh38: 18:45916144-45916144
2 KIF11 NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) SNV Pathogenic 810629 rs1589590737 GRCh37: 10:94366988-94366988
GRCh38: 10:92607231-92607231
3 POC5 NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) Deletion Pathogenic 617629 rs1561480377 GRCh37: 5:75001531-75001532
GRCh38: 5:75705706-75705707
4 SCAPER NM_020843.4(SCAPER):c.2023-2A>G SNV Pathogenic 424861 rs1555558169 GRCh37: 15:77021080-77021080
GRCh38: 15:76728739-76728739
5 EPG5 NM_020964.3(EPG5):c.2609C>G (p.Ser870Cys) SNV Likely pathogenic 812309 rs1479239564 GRCh37: 18:43505813-43505813
GRCh38: 18:45925847-45925847

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

Cellular components related to Syndromic Rod-Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.8 POC5 KIF11 CC2D2A

Sources for Syndromic Rod-Cone Dystrophy

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
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