CORD7
MCID: CNR016
MIFTS: 38

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 57 12 75 29 13 6 15 73
Cord7 57 12 75
Dystrophy, Cone-Rod, Type 7 40
Retinitis Pigmentosa 7 73

Characteristics:

HPO:

32
cone-rod dystrophy 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 7

UniProtKB/Swiss-Prot : 75 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 Transmission across Chemical Synapses and Aldosterone synthesis and secretion. Affiliated tissues include eye, and related phenotypes are visual impairment and abnormality of color vision

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

Clinical features from OMIM:

603649

Human phenotypes related to Cone-Rod Dystrophy 7:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 abnormality of color vision 32 HP:0000551
3 cone/cone-rod dystrophy 32 HP:0000548
4 retinal flecks 32 HP:0012045
5 bull's eye maculopathy 32 HP:0011504

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 7:

46
# 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 29 RIMS1

Anatomical Context for Cone-Rod Dystrophy 7

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

41
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 )
2016
2
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). ( 12659814 )
2003

Variations for Cone-Rod Dystrophy 7

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

75
# 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 GRCh37 Chromosome 6, 72960710: 72960710
2 RIMS1 NM_014989.5(RIMS1): c.2459G> A (p.Arg820His) single nucleotide variant Pathogenic rs121918302 GRCh38 Chromosome 6, 72251007: 72251007
3 RIMS1 NM_014989.5(RIMS1): c.2670T> C (p.His890=) single nucleotide variant Benign/Likely benign rs34821160 GRCh37 Chromosome 6, 72961043: 72961043
4 RIMS1 NM_014989.5(RIMS1): c.2670T> C (p.His890=) single nucleotide variant Benign/Likely benign rs34821160 GRCh38 Chromosome 6, 72251340: 72251340

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 RIMS1 SNAP25 SYT1
2
Show member pathways
12.22 RAB3A RIMS2 SNAP25
3
Show member pathways
11.69 RAB3A RIMS1 SNAP25 SYT1
4
Show member pathways
11.32 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 RAB3A RIMS1 SNAP25 SYT1

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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