MCID: SYN149
MIFTS: 22

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 bardet-biedl syndrome 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 and pineal, and related phenotype is growth/size/body region.

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 bardet-biedl syndrome 29.0 SCAPER CC2D2A
2 retinitis pigmentosa 28.0 SCAPER KIF11 EPG5 CC2D2A
3 usher syndrome 12.1
4 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.9
5 retinitis pigmentosa-deafness syndrome 11.9
6 rhyns syndrome 11.8
7 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 11.5
8 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.4
9 chromosome xp11.3 deletion syndrome 11.4
10 retinitis pigmentosa with or without skeletal anomalies 11.2
11 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.2
12 aldred syndrome 11.2
13 usher syndrome, type i 11.2
14 usher syndrome, type iia 11.2
15 usher syndrome, type iiia 11.2
16 usher syndrome, type ic 11.2
17 usher syndrome, type id 11.2
18 usher syndrome, type iic 11.2
19 neuroretinitis 10.5
20 retinitis 10.5
21 cone-rod dystrophy 2 10.1
22 cone dystrophy 10.1
23 achromatopsia 10.1
24 learning disability 10.1
25 yemenite deaf-blind hypopigmentation syndrome 10.0
26 branchiootic syndrome 1 10.0
27 isolated ectopia lentis 10.0
28 fundus dystrophy 10.0
29 pathologic nystagmus 10.0
30 ciliopathy 10.0
31 inherited retinal disorder 10.0
32 marfan syndrome 9.9
33 night blindness, congenital stationary, autosomal dominant 2 9.9
34 strabismus 9.9
35 sturge-weber syndrome 9.9
36 trichomegaly 9.9
37 joubert syndrome 1 9.9
38 muscular dystrophy-dystroglycanopathy , type a, 1 9.9
39 meckel syndrome, type 1 9.9
40 mucopolysaccharidosis, type iiic 9.9
41 3-methylglutaconic aciduria, type iii 9.9
42 oliver-mcfarlane syndrome 9.9
43 choroideremia 9.9
44 ataxia and polyneuropathy, adult-onset 9.9
45 ceroid lipofuscinosis, neuronal, 6 9.9
46 meckel syndrome, type 3 9.9
47 retinitis pigmentosa 32 9.9
48 joubert syndrome 6 9.9
49 retinitis pigmentosa 39 9.9
50 bardet-biedl syndrome 9 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

MGI Mouse Phenotypes related to Syndromic Rod-Cone Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 8.92 CC2D2A EPG5 KIF11 SCAPER

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:

40
Eye, Bone, Pineal

Publications for Syndromic Rod-Cone Dystrophy

Articles related to Syndromic Rod-Cone Dystrophy:

(show all 37)
# Title Authors PMID Year
1
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
2
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
3
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing. 61
31904091 2020
4
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019
5
Dominant ARL3-related retinitis pigmentosa. 61
30932721 2019
6
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. 61
30267408 2019
7
Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome. 61
31620478 2019
8
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
9
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa. 61
30464047 2018
10
Relative frequency of inherited retinal dystrophies in Brazil. 61
30374144 2018
11
Non-syndromic retinitis pigmentosa. 61
29597005 2018
12
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
13
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 61
29192808 2018
14
Autosomal Dominant Retinitis Pigmentosa. 61
30578488 2018
15
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review. 61
29171570 2017
16
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. 61
28442542 2017
17
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. 61
29457131 2017
18
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 61
28285769 2017
19
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
20
Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations. 61
27116670 2016
21
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 61
26908613 2016
22
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa]. 61
26868535 2016
23
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. 61
26662040 2016
24
Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation. 61
27684375 2016
25
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 61
25859010 2015
26
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
27
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 61
25366773 2014
28
Prenylation defects in inherited retinal diseases. 61
24401286 2014
29
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. 61
23351521 2012
30
Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy. 61
22131873 2011
31
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
32
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. 61
19858128 2010
33
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
34
Syndromic retinitis pigmentosa: ERG and phenotypic changes. 61
15785977 2005
35
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. 61
9222207 1997
36
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 61
9134546 1997
37
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 GRCh37 Pos GRCh38 Pos
1 SCAPER NM_020843.4(SCAPER):c.2023-2A>GSNV Pathogenic 424861 rs1555558169 15:77021080-77021080 15:76728739-76728739
2 EPG5 NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter)SNV Pathogenic 812308 18:43496109-43496109 18:45916144-45916144
3 KIF11 NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)SNV Pathogenic/Likely pathogenic 810629 10:94366988-94366988 10:92607231-92607231
4 EPG5 NM_020964.3(EPG5):c.2609C>G (p.Ser870Cys)SNV Likely pathogenic 812309 18:43505813-43505813 18:45925847-45925847
5 POC5 NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)deletion Conflicting interpretations of pathogenicity 617629 rs1561480377 5:75001531-75001532 5:75705706-75705707

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....