CORD15
MCID: CNR025
MIFTS: 22

Cone-Rod Dystrophy 15 (CORD15)

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

Aliases & Classifications for Cone-Rod Dystrophy 15

MalaCards integrated aliases for Cone-Rod Dystrophy 15:

Name: Cone-Rod Dystrophy 15 57 12 75 29 13 6 73
Retinitis Pigmentosa 65 57 29 6 73
Cord15 57 12 75
Dystrophy, Cone-Rod, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life


HPO:

32
cone-rod dystrophy 15:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 15

UniProtKB/Swiss-Prot : 75 Cone-rod dystrophy 15: 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 15, is also known as retinitis pigmentosa 65. An important gene associated with Cone-Rod Dystrophy 15 is CDHR1 (Cadherin Related Family Member 1). Affiliated tissues include eye and retina, and related phenotypes are photophobia and progressive visual loss

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous mutation in the CDHR1 gene on chromosome 10q23.

Description from OMIM: 613660

Related Diseases for Cone-Rod Dystrophy 15

Symptoms & Phenotypes for Cone-Rod Dystrophy 15

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia (in some patients)
nyctalopia (in some patients)
decreased visual acuity, progressive
color vision defect, severe
pigment abnormalities, both central and peripheral
more

Clinical features from OMIM:

613660

Human phenotypes related to Cone-Rod Dystrophy 15:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 occasional (7.5%) HP:0000613
2 progressive visual loss 32 HP:0000529
3 nyctalopia 32 occasional (7.5%) HP:0000662
4 abnormality of color vision 32 HP:0000551
5 rod-cone dystrophy 32 HP:0000510
6 cone/cone-rod dystrophy 32 HP:0000548

Drugs & Therapeutics for Cone-Rod Dystrophy 15

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 15

Genetic Tests for Cone-Rod Dystrophy 15

Genetic tests related to Cone-Rod Dystrophy 15:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 15 29 CDHR1
2 Retinitis Pigmentosa 65 29

Anatomical Context for Cone-Rod Dystrophy 15

MalaCards organs/tissues related to Cone-Rod Dystrophy 15:

41
Eye, Retina

Publications for Cone-Rod Dystrophy 15

Variations for Cone-Rod Dystrophy 15

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 15:

75
# Symbol AA change Variation ID SNP ID
1 CDHR1 p.Pro574Ala VAR_075501

ClinVar genetic disease variations for Cone-Rod Dystrophy 15:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDHR1 CDHR1, 1-BP INS, 524A insertion Pathogenic
2 CDHR1 NG_028034.1: g.8171del deletion Pathogenic GRCh37 Chromosome 10, 85957582: 85957582
3 CDHR1 NG_028034.1: g.8171del deletion Pathogenic GRCh38 Chromosome 10, 84197826: 84197826
4 CDHR1 NM_033100.3(CDHR1): c.2522_2528delTCTCTGA (p.Ile841Serfs) deletion Conflicting interpretations of pathogenicity rs794727197 GRCh37 Chromosome 10, 85974319: 85974325
5 CDHR1 NM_033100.3(CDHR1): c.2522_2528delTCTCTGA (p.Ile841Serfs) deletion Conflicting interpretations of pathogenicity rs794727197 GRCh38 Chromosome 10, 84214563: 84214569
6 CDHR1 NM_033100.3(CDHR1): c.526-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs190906755 GRCh37 Chromosome 10, 85961556: 85961556
7 CDHR1 NM_033100.3(CDHR1): c.526-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs190906755 GRCh38 Chromosome 10, 84201800: 84201800
8 CDHR1 NM_033100.3(CDHR1): c.2246_2253delGCACCATC (p.Arg749Profs) deletion Likely pathogenic rs886044648 GRCh37 Chromosome 10, 85974043: 85974050
9 CDHR1 NM_033100.3(CDHR1): c.2246_2253delGCACCATC (p.Arg749Profs) deletion Likely pathogenic rs886044648 GRCh38 Chromosome 10, 84214287: 84214294
10 CDHR1 NM_033100.3(CDHR1): c.1071C> T (p.Ser357=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588811 GRCh38 Chromosome 10, 84208281: 84208281
11 CDHR1 NM_033100.3(CDHR1): c.1071C> T (p.Ser357=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588811 GRCh37 Chromosome 10, 85968037: 85968037
12 CDHR1 NM_033100.3(CDHR1): c.1133G> A (p.Arg378Gln) single nucleotide variant Uncertain significance rs140621272 GRCh38 Chromosome 10, 84208343: 84208343
13 CDHR1 NM_033100.3(CDHR1): c.1133G> A (p.Arg378Gln) single nucleotide variant Uncertain significance rs140621272 GRCh37 Chromosome 10, 85968099: 85968099
14 CDHR1 NM_033100.3(CDHR1): c.1461G> A (p.Gly487=) single nucleotide variant Conflicting interpretations of pathogenicity rs141787212 GRCh38 Chromosome 10, 84211141: 84211141
15 CDHR1 NM_033100.3(CDHR1): c.1461G> A (p.Gly487=) single nucleotide variant Conflicting interpretations of pathogenicity rs141787212 GRCh37 Chromosome 10, 85970897: 85970897
16 CDHR1 NM_033100.3(CDHR1): c.783G> A (p.Pro261=) single nucleotide variant Conflicting interpretations of pathogenicity rs147346345 GRCh37 Chromosome 10, 85962879: 85962879
17 CDHR1 NM_033100.3(CDHR1): c.783G> A (p.Pro261=) single nucleotide variant Conflicting interpretations of pathogenicity rs147346345 GRCh38 Chromosome 10, 84203123: 84203123
18 CDHR1 NM_033100.3(CDHR1): c.1463delG (p.Gly488Alafs) deletion Pathogenic rs756678484 GRCh38 Chromosome 10, 84211143: 84211143
19 CDHR1 NM_033100.3(CDHR1): c.1463delG (p.Gly488Alafs) deletion Pathogenic rs756678484 GRCh37 Chromosome 10, 85970899: 85970899

Expression for Cone-Rod Dystrophy 15

Search GEO for disease gene expression data for Cone-Rod Dystrophy 15.

Pathways for Cone-Rod Dystrophy 15

GO Terms for Cone-Rod Dystrophy 15

Sources for Cone-Rod Dystrophy 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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