MCID: CNR016
MIFTS: 20

Cone-Rod Dystrophy 7

Categories: Genetic diseases, Eye 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 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). 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

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.1
2 retinitis pigmentosa 10.1
3 leber congenital amaurosis 4 10.1
4 retinitis 10.1

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 cone/cone-rod dystrophy 32 HP:0000548
3 abnormality of color vision 32 HP:0000551
4 bull's eye maculopathy 32 HP:0011504
5 retinal flecks 32 HP:0012045

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

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

GO Terms for Cone-Rod Dystrophy 7

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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