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 72 29 13 6 15 70
Cord7 57 12 72
Dystrophy, Cone-Rod, Type 7 39
Retinitis Pigmentosa 7 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on a 4-generation british family (last curated november 2020)
age of onset, 20-40 years of age
worse visual prognosis associated with earlier age of onset


HPO:

31
cone-rod dystrophy 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111012
OMIM® 57 603649
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
MedGen 41 C1863634
UMLS 70 C1842475 C1863634

Summaries for Cone-Rod Dystrophy 7

UniProtKB/Swiss-Prot : 72 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 retinitis pigmentosa 25 and retinitis pigmentosa. An important gene associated with Cone-Rod Dystrophy 7 is RIMS1 (Regulating Synaptic Membrane Exocytosis 1). Affiliated tissues include eye, and related phenotypes are visual impairment and color vision defect

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

More information from OMIM: 603649 PS120970

Related Diseases for Cone-Rod Dystrophy 7

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 25 29.2 RIMS1 LCA5 IMPG1 ELOVL4
2 retinitis pigmentosa 28.3 RIMS1 PITPNM3 PITPNM1 LCA5 IMPG1 ELOVL4
3 fundus dystrophy 28.3 RIMS1 PITPNM3 PITPNM1 LCA5 IMPG1 ELOVL4
4 cone-rod dystrophy 2 28.3 RIMS1 PITPNM3 PITPNM1 LCA5 IMPG1 ELOVL4
5 stargardt macular degeneration 10.2 RIMS1 ELOVL4
6 neuroretinitis 10.1
7 retinitis 10.1
8 inherited retinal disorder 10.1
9 cone-rod synaptic disorder, congenital nonprogressive 10.0 RIMS2 CABP4
10 vitreoretinochoroidopathy 10.0 IMPG1 ELOVL4
11 cone-rod dystrophy 3 10.0 IMPG1 CABP4
12 cone-rod dystrophy 17 10.0 RIMS1 PITPNM3
13 partial central choroid dystrophy 10.0 RIMS1 PITPNM3
14 hereditary choroidal atrophy 10.0 RIMS1 PITPNM3
15 retinitis pigmentosa 73 10.0 IMPG1 CFAP206
16 cone-rod dystrophy 12 10.0 RIMS1 PITPNM3
17 vitelliform macular dystrophy 9.9 IMPG1 ELOVL4
18 stargardt disease 3 9.9
19 chorioretinal atrophy, progressive bifocal 9.9
20 macular degeneration, age-related, 1 9.9
21 color blindness 9.9
22 retinal disease 9.8 RIMS1 IMPG1 ELOVL4 CABP4
23 congenital stationary night blindness 9.8 RIMS2 RIMS1 CABP4
24 choroidal dystrophy, central areolar, 1 9.7 RIMS1 PITPNM3 PITPNM1
25 stargardt disease 9.6 LCA5 IMPG1 ELOVL4
26 cone-rod dystrophy 5 9.6 RIMS1 PITPNM3 PITPNM1 CABP4
27 retinal degeneration 9.4 PITPNM3 PITPNM1 ELOVL4
28 leber plus disease 9.4 RIMS1 LCA5 IMPG1 ELOVL4 CABP4
29 cone dystrophy 9.3 PITPNM3 PITPNM1 LCA5 CABP4

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:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 color vision defect 31 HP:0000551
3 cone/cone-rod dystrophy 31 HP:0000548
4 retinal flecks 31 HP:0012045
5 bull's eye maculopathy 31 HP:0011504

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia
macular atrophy
bull's eye maculopathy
attenuated retinal vessels
progressive deterioration central vision
more

Clinical features from OMIM®:

603649 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 CABP4 CFAP206 ELOVL4 LCA5 RAB3A RIMS1

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:

40
Eye

Publications for Cone-Rod Dystrophy 7

Articles related to Cone-Rod Dystrophy 7:

# Title Authors PMID Year
1
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 61 6 57
12659814 2003
2
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 61 6 57
9634506 1998
3
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. 61 57
15665353 2005
4
Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. 61 57
10420191 1999
5
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. 61
27176872 2017
6
Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. 61
18690027 2007
7
Crystal structure of the RIM2 C2A-domain at 1.4 A resolution. 61
16216076 2005
8
Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa. 61
15746564 2005
9
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. 61
11004294 2000
10
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 61
10634627 2000

Variations for Cone-Rod Dystrophy 7

ClinVar genetic disease variations for Cone-Rod Dystrophy 7:

6 (show top 50) (show all 142)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIMS1 NM_014989.5(RIMS1):c.2459G>A (p.Arg820His) SNV Pathogenic 4168 rs121918302 GRCh37: 6:72960710-72960710
GRCh38: 6:72251007-72251007
2 RIMS1 NM_014989.5(RIMS1):c.3182G>A (p.Trp1061Ter) SNV Pathogenic 424611 rs749393051 GRCh37: 6:72974743-72974743
GRCh38: 6:72265040-72265040
3 RIMS1 NM_014989.5(RIMS1):c.2770+2T>C SNV Likely pathogenic 828152 rs1590681805 GRCh37: 6:72962537-72962537
GRCh38: 6:72252834-72252834
4 RIMS1 NM_001168407.2(RIMS1):c.1536-963del Deletion Conflicting interpretations of pathogenicity 156391 rs587783021 GRCh37: 6:72974697-72974697
GRCh38: 6:72264994-72264994
5 RIMS1 NM_014989.5(RIMS1):c.5071C>T (p.Arg1691Ter) SNV Uncertain significance 631988 rs528476500 GRCh37: 6:73110408-73110408
GRCh38: 6:72400706-72400706
6 RIMS1 NM_001168407.2(RIMS1):c.88C>T (p.Arg30Ter) SNV Uncertain significance 638483 rs891525901 GRCh37: 6:72922913-72922913
GRCh38: 6:72213210-72213210
7 RIMS1 NM_014989.5(RIMS1):c.*2386T>G SNV Uncertain significance 357896 rs886061723 GRCh37: 6:73112802-73112802
GRCh38: 6:72403100-72403100
8 RIMS1 NM_014989.5(RIMS1):c.-181G>A SNV Uncertain significance 357824 rs886061704 GRCh37: 6:72596546-72596546
GRCh38: 6:71886843-71886843
9 RIMS1 NM_014989.5(RIMS1):c.*542A>T SNV Uncertain significance 357873 rs774599192 GRCh37: 6:73110958-73110958
GRCh38: 6:72401256-72401256
10 RIMS1 NM_014989.5(RIMS1):c.*1682C>T SNV Uncertain significance 357887 rs886061721 GRCh37: 6:73112098-73112098
GRCh38: 6:72402396-72402396
11 RIMS1 NM_014989.5(RIMS1):c.2792G>A (p.Arg931Lys) SNV Uncertain significance 357848 rs776281976 GRCh37: 6:72967849-72967849
GRCh38: 6:72258146-72258146
12 RIMS1 NM_014989.5(RIMS1):c.928C>G (p.Arg310Gly) SNV Uncertain significance 357835 rs758719701 GRCh37: 6:72892102-72892102
GRCh38: 6:72182399-72182399
13 RIMS1 NM_014989.5(RIMS1):c.*44G>A SNV Uncertain significance 357866 rs762926493 GRCh37: 6:73110460-73110460
GRCh38: 6:72400758-72400758
14 RIMS1 NM_014989.5(RIMS1):c.913G>C (p.Val305Leu) SNV Uncertain significance 357834 rs886061705 GRCh37: 6:72892087-72892087
GRCh38: 6:72182384-72182384
15 RIMS1 NM_014989.5(RIMS1):c.-127G>A SNV Uncertain significance 357826 rs371884894 GRCh37: 6:72596600-72596600
GRCh38: 6:71886897-71886897
16 RIMS1 NM_014989.5(RIMS1):c.1556C>T (p.Ser519Phe) SNV Uncertain significance 357841 rs886061707 GRCh37: 6:72892730-72892730
GRCh38: 6:72183027-72183027
17 RIMS1 NM_014989.5(RIMS1):c.2241T>C (p.Ser747=) SNV Uncertain significance 357843 rs760492397 GRCh37: 6:72957830-72957830
GRCh38: 6:72248127-72248127
18 RIMS1 NM_014989.5(RIMS1):c.672A>G (p.Thr224=) SNV Uncertain significance 357832 rs778273984 GRCh37: 6:72889478-72889478
GRCh38: 6:72179775-72179775
19 RIMS1 NM_014989.5(RIMS1):c.*1446A>G SNV Uncertain significance 357883 rs886061719 GRCh37: 6:73111862-73111862
GRCh38: 6:72402160-72402160
20 RIMS1 NM_014989.5(RIMS1):c.*1355C>T SNV Uncertain significance 357880 rs886061716 GRCh37: 6:73111771-73111771
GRCh38: 6:72402069-72402069
21 RIMS1 NM_014989.5(RIMS1):c.*1025G>T SNV Uncertain significance 357877 rs538581208 GRCh37: 6:73111441-73111441
GRCh38: 6:72401739-72401739
22 RIMS1 NM_014989.5(RIMS1):c.-249C>G SNV Uncertain significance 357822 rs868415047 GRCh37: 6:72596478-72596478
GRCh38: 6:71886775-71886775
23 RIMS1 NM_014989.5(RIMS1):c.*545C>A SNV Uncertain significance 357874 rs886061714 GRCh37: 6:73110961-73110961
GRCh38: 6:72401259-72401259
24 RIMS1 NM_014989.5(RIMS1):c.1311G>A (p.Arg437=) SNV Uncertain significance 357837 rs769837216 GRCh37: 6:72892485-72892485
GRCh38: 6:72182782-72182782
25 RIMS1 NM_014989.5(RIMS1):c.4512A>G (p.Ile1504Met) SNV Uncertain significance 357860 rs746893761 GRCh37: 6:73102406-73102406
GRCh38: 6:72392704-72392704
26 RIMS1 NM_014989.5(RIMS1):c.-13G>T SNV Uncertain significance 357827 rs763463323 GRCh37: 6:72596714-72596714
GRCh38: 6:71887011-71887011
27 RIMS1 NM_014989.5(RIMS1):c.1704T>C (p.Asp568=) SNV Uncertain significance 357842 rs886061708 GRCh37: 6:72943501-72943501
GRCh38: 6:72233798-72233798
28 RIMS1 NM_014989.5(RIMS1):c.*864G>T SNV Uncertain significance 357876 rs886061715 GRCh37: 6:73111280-73111280
GRCh38: 6:72401578-72401578
29 RIMS1 NM_014989.5(RIMS1):c.1957+10C>A SNV Uncertain significance 908313 GRCh37: 6:72947635-72947635
GRCh38: 6:72237932-72237932
30 RIMS1 NM_014989.5(RIMS1):c.2241+14G>A SNV Uncertain significance 908314 GRCh37: 6:72957844-72957844
GRCh38: 6:72248141-72248141
31 RIMS1 NM_014989.5(RIMS1):c.2545-4T>C SNV Uncertain significance 908316 GRCh37: 6:72960914-72960914
GRCh38: 6:72251211-72251211
32 RIMS1 NM_014989.5(RIMS1):c.4442T>C (p.Met1481Thr) SNV Uncertain significance 908385 GRCh37: 6:73100375-73100375
GRCh38: 6:72390673-72390673
33 RIMS1 NM_014989.5(RIMS1):c.4444G>A (p.Val1482Ile) SNV Uncertain significance 908386 GRCh37: 6:73100377-73100377
GRCh38: 6:72390675-72390675
34 RIMS1 NM_014989.5(RIMS1):c.*1134C>T SNV Uncertain significance 908452 GRCh37: 6:73111550-73111550
GRCh38: 6:72401848-72401848
35 RIMS1 NM_014989.5(RIMS1):c.*1230A>C SNV Uncertain significance 908453 GRCh37: 6:73111646-73111646
GRCh38: 6:72401944-72401944
36 RIMS1 NM_014989.5(RIMS1):c.*1280G>A SNV Uncertain significance 908454 GRCh37: 6:73111696-73111696
GRCh38: 6:72401994-72401994
37 RIMS1 NM_014989.5(RIMS1):c.2787T>G (p.Ser929Arg) SNV Uncertain significance 909158 GRCh37: 6:72967844-72967844
GRCh38: 6:72258141-72258141
38 RIMS1 NM_014989.5(RIMS1):c.2827C>G (p.Gln943Glu) SNV Uncertain significance 909159 GRCh37: 6:72967884-72967884
GRCh38: 6:72258181-72258181
39 RIMS1 NM_014989.5(RIMS1):c.2865T>C (p.Ser955=) SNV Uncertain significance 909160 GRCh37: 6:72967922-72967922
GRCh38: 6:72258219-72258219
40 RIMS1 NM_014989.5(RIMS1):c.2868T>C (p.Pro956=) SNV Uncertain significance 909161 GRCh37: 6:72967925-72967925
GRCh38: 6:72258222-72258222
41 RIMS1 NM_014989.5(RIMS1):c.4970A>G (p.Lys1657Arg) SNV Uncertain significance 909235 GRCh37: 6:73110307-73110307
GRCh38: 6:72400605-72400605
42 RIMS1 NM_014989.5(RIMS1):c.*1690G>A SNV Uncertain significance 909297 GRCh37: 6:73112106-73112106
GRCh38: 6:72402404-72402404
43 RIMS1 NM_014989.5(RIMS1):c.*1702G>A SNV Uncertain significance 909298 GRCh37: 6:73112118-73112118
GRCh38: 6:72402416-72402416
44 RIMS1 NM_014989.5(RIMS1):c.*2132A>G SNV Uncertain significance 910271 GRCh37: 6:73112548-73112548
GRCh38: 6:72402846-72402846
45 RIMS1 NM_014989.5(RIMS1):c.*2357C>G SNV Uncertain significance 910272 GRCh37: 6:73112773-73112773
GRCh38: 6:72403071-72403071
46 RIMS1 NM_014989.5(RIMS1):c.954G>C (p.Arg318Ser) SNV Uncertain significance 911090 GRCh37: 6:72892128-72892128
GRCh38: 6:72182425-72182425
47 RIMS1 NM_014989.5(RIMS1):c.1088G>T (p.Arg363Leu) SNV Uncertain significance 851145 GRCh37: 6:72892262-72892262
GRCh38: 6:72182559-72182559
48 RIMS1 NM_014989.5(RIMS1):c.1297A>G (p.Thr433Ala) SNV Uncertain significance 911091 GRCh37: 6:72892471-72892471
GRCh38: 6:72182768-72182768
49 RIMS1 NM_014989.5(RIMS1):c.3249C>T (p.Ser1083=) SNV Uncertain significance 911157 GRCh37: 6:72975147-72975147
GRCh38: 6:72265444-72265444
50 RIMS1 NM_014989.5(RIMS1):c.3279A>G (p.Val1093=) SNV Uncertain significance 911158 GRCh37: 6:72975177-72975177
GRCh38: 6:72265474-72265474

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

72
# Symbol AA change Variation ID SNP ID
1 RIMS1 p.Arg820His VAR_016804 rs121918302

Expression for Cone-Rod Dystrophy 7

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

Pathways for Cone-Rod Dystrophy 7

GO Terms for Cone-Rod Dystrophy 7

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

# Name GO ID Score Top Affiliating Genes
1 presynaptic membrane GO:0042734 9.32 RIMS2 RIMS1
2 terminal bouton GO:0043195 9.26 RAB3A CABP4
3 cell projection GO:0042995 9.17 RIMS2 RIMS1 PITPNM3 LCA5 IMPG1 CFAP206
4 cytoskeleton of presynaptic active zone GO:0048788 9.16 RIMS2 RIMS1
5 presynaptic active zone GO:0048786 9.13 RIMS2 RIMS1 RAB3A

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.76 RIMS2 RIMS1 RAB3A
2 visual perception GO:0007601 9.7 RIMS1 IMPG1 CABP4
3 phosphatidylinositol biosynthetic process GO:0006661 9.59 PITPNM3 PITPNM1
4 regulation of synaptic plasticity GO:0048167 9.58 RIMS2 RIMS1
5 neurotransmitter secretion GO:0007269 9.57 RIMS1 RAB3A
6 phospholipid transport GO:0015914 9.56 PITPNM3 PITPNM1
7 regulation of exocytosis GO:0017157 9.55 RIMS2 RAB3A
8 phototransduction GO:0007602 9.54 PITPNM1 CABP4
9 exocytosis GO:0006887 9.54 RIMS2 RIMS1 RAB3A
10 glutamate secretion GO:0014047 9.51 RIMS1 RAB3A
11 positive regulation of excitatory postsynaptic potential GO:2000463 9.49 RIMS2 RIMS1
12 synaptic vesicle exocytosis GO:0016079 9.48 RIMS1 RAB3A
13 positive regulation of dendrite extension GO:1903861 9.46 RIMS2 RIMS1
14 regulated exocytosis GO:0045055 9.43 RIMS1 RAB3A
15 positive regulation of synaptic transmission GO:0050806 9.4 RIMS2 RIMS1
16 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.32 RIMS2 RIMS1
17 positive regulation of inhibitory postsynaptic potential GO:0097151 9.26 RIMS2 RIMS1
18 acrosomal vesicle exocytosis GO:0060478 9.16 RIMS1 RAB3A
19 regulation of synaptic vesicle exocytosis GO:2000300 9.13 RIMS2 RIMS1 RAB3A
20 calcium ion regulated exocytosis GO:0017156 8.8 RIMS2 RIMS1 RAB3A

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

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 9.26 PITPNM3 PITPNM1
2 Rab GTPase binding GO:0017137 9.16 RIMS2 RIMS1
3 phospholipid transporter activity GO:0005548 8.96 PITPNM3 PITPNM1
4 ion channel binding GO:0044325 8.8 RIMS2 RIMS1 CABP4

Sources for Cone-Rod Dystrophy 7

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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