CORD7
MCID: CNR016
MIFTS: 36

Cone-Rod Dystrophy 7 (CORD7)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 7

MalaCards integrated aliases for Cone-Rod Dystrophy 7:

Name: Cone-Rod Dystrophy 7 58 12 76 30 13 6 15 74
Cord7 58 12 76
Dystrophy, Cone-Rod, Type 7 41
Retinitis Pigmentosa 7 74

Characteristics:

HPO:

33
cone-rod dystrophy 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 7

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 7: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 7, also known as cord7, is related to cone-rod dystrophy 2 and retinitis pigmentosa. An important gene associated with Cone-Rod Dystrophy 7 is RIMS1 (Regulating Synaptic Membrane Exocytosis 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Affiliated tissues include eye, and related phenotypes are visual impairment and cone/cone-rod dystrophy

Disease Ontology : 12 A cone-rod dystrophy that has material basis in heterozygous mutation in the RIMS1 gene on chromosome 6q13.

Description from OMIM: 603649

Related Diseases for Cone-Rod Dystrophy 7

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 7:



Diseases related to Cone-Rod Dystrophy 7

Symptoms & Phenotypes for Cone-Rod Dystrophy 7

Human phenotypes related to Cone-Rod Dystrophy 7:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 cone/cone-rod dystrophy 33 HP:0000548
3 retinal flecks 33 HP:0012045
4 bull's eye maculopathy 33 HP:0011504
5 color vision defect 33 HP:0000551

Clinical features from OMIM:

603649

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 7:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ELOVL4 RAB3A RIMS1 RIMS2 SNAP25 SYT1
2 homeostasis/metabolism MP:0005376 9.8 ABCA4 ELOVL4 RAB3A RIMS1 RIMS2 SNAP25
3 mortality/aging MP:0010768 9.63 ELOVL4 RAB3A RIMS1 RIMS2 SNAP25 SYT1
4 nervous system MP:0003631 9.5 ABCA4 ELOVL4 RAB3A RIMS1 RIMS2 SNAP25
5 normal MP:0002873 9.02 RAB3A RIMS1 RIMS2 SNAP25 SYT1

Drugs & Therapeutics for Cone-Rod Dystrophy 7

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 7

Genetic Tests for Cone-Rod Dystrophy 7

Genetic tests related to Cone-Rod Dystrophy 7:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 7 30 RIMS1

Anatomical Context for Cone-Rod Dystrophy 7

MalaCards organs/tissues related to Cone-Rod Dystrophy 7:

42
Eye

Publications for Cone-Rod Dystrophy 7

Articles related to Cone-Rod Dystrophy 7:

# Title Authors Year
1
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2017
2
Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. ( 18690027 )
2007
3
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. ( 15665353 )
2005
4
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). ( 12659814 )
2003
5
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. ( 10634627 )
2000
6
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. ( 9634506 )
1998

Variations for Cone-Rod Dystrophy 7

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 7:

76
# Symbol AA change Variation ID SNP ID
1 RIMS1 p.Arg820His VAR_016804 rs121918302

ClinVar genetic disease variations for Cone-Rod Dystrophy 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIMS1 NM_014989.5(RIMS1): c.2459G> A (p.Arg820His) single nucleotide variant Pathogenic rs121918302 GRCh38 Chromosome 6, 72251007: 72251007
2 RIMS1 NM_014989.5(RIMS1): c.2459G> A (p.Arg820His) single nucleotide variant Pathogenic rs121918302 GRCh37 Chromosome 6, 72960710: 72960710
3 RIMS1 NM_014989.5(RIMS1): c.2670T> C (p.His890=) single nucleotide variant Benign/Likely benign rs34821160 GRCh38 Chromosome 6, 72251340: 72251340
4 RIMS1 NM_014989.5(RIMS1): c.2670T> C (p.His890=) single nucleotide variant Benign/Likely benign rs34821160 GRCh37 Chromosome 6, 72961043: 72961043

Expression for Cone-Rod Dystrophy 7

Search GEO for disease gene expression data for Cone-Rod Dystrophy 7.

Pathways for Cone-Rod Dystrophy 7

Pathways related to Cone-Rod Dystrophy 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 RAB3A RIMS2 SNAP25
2
Show member pathways
12.41 RAB3A RIMS1 SNAP25 SYT1
3
Show member pathways
11.69 RAB3A RIMS1 SNAP25 SYT1
4
Show member pathways
11.37 RAB3A RIMS1 SNAP25 SYT1
5
Show member pathways
11.22 SNAP25 SYT1
6 9.75 RIMS1 SNAP25 SYT1

GO Terms for Cone-Rod Dystrophy 7

Cellular components related to Cone-Rod Dystrophy 7 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 RIMS1 RIMS2 SNAP25 SYT1
2 synapse GO:0045202 9.76 RIMS1 RIMS2 SNAP25 SYT1
3 axon GO:0030424 9.71 RAB3A SNAP25 SYT1
4 synaptic vesicle GO:0008021 9.61 RAB3A SNAP25 SYT1
5 SNARE complex GO:0031201 9.52 SNAP25 SYT1
6 presynaptic active zone GO:0048786 9.51 RIMS1 RIMS2
7 presynaptic active zone cytoplasmic component GO:0098831 9.48 RIMS1 RIMS2
8 intracellular organelle GO:0043229 9.4 RAB3A SYT1
9 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.37 RAB3A SYT1
10 cytoskeleton of presynaptic active zone GO:0048788 9.32 RIMS1 RIMS2
11 clathrin-sculpted monoamine transport vesicle membrane GO:0070083 9.26 RAB3A SYT1
12 clathrin-sculpted glutamate transport vesicle membrane GO:0060203 9.16 RAB3A SYT1
13 clathrin-sculpted acetylcholine transport vesicle membrane GO:0060201 8.96 RAB3A SYT1
14 presynaptic membrane GO:0042734 8.92 RIMS1 RIMS2 SNAP25 SYT1
15 membrane GO:0016020 10.09 ABCA4 ELOVL4 RAB3A RIMS1 RIMS2 SNAP25

Biological processes related to Cone-Rod Dystrophy 7 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.71 RAB3A RIMS1 RIMS2
2 regulation of exocytosis GO:0017157 9.58 RAB3A RIMS2 SYT1
3 regulation of membrane potential GO:0042391 9.55 RIMS1 RIMS2
4 calcium ion regulated exocytosis GO:0017156 9.54 RIMS1 RIMS2 SYT1
5 regulation of synaptic vesicle exocytosis GO:2000300 9.52 RIMS1 RIMS2
6 regulation of synaptic plasticity GO:0048167 9.51 RIMS1 RIMS2
7 positive regulation of synaptic transmission GO:0050806 9.5 RIMS1 RIMS2 SYT1
8 neurotransmitter secretion GO:0007269 9.49 SNAP25 SYT1
9 positive regulation of excitatory postsynaptic potential GO:2000463 9.48 RIMS1 RIMS2
10 glutamate secretion GO:0014047 9.46 RAB3A SYT1
11 exocytosis GO:0006887 9.46 RAB3A RIMS1 RIMS2 SNAP25
12 positive regulation of inhibitory postsynaptic potential GO:0097151 9.43 RIMS1 RIMS2
13 positive regulation of dendrite extension GO:1903861 9.43 RIMS1 RIMS2 SYT1
14 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.13 RIMS1 RIMS2 SYT1
15 synaptic vesicle exocytosis GO:0016079 8.92 SYT1 RAB3A RIMS1 SNAP25

Molecular functions related to Cone-Rod Dystrophy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.26 RIMS1 RIMS2
2 calcium-dependent protein binding GO:0048306 9.16 SNAP25 SYT1
3 syntaxin binding GO:0019905 8.96 SNAP25 SYT1
4 syntaxin-1 binding GO:0017075 8.62 SNAP25 SYT1

Sources for Cone-Rod Dystrophy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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