CORD15
MCID: CNR025
MIFTS: 25

Cone-Rod Dystrophy 15 (CORD15)

Categories: Eye diseases, Genetic 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 74 29 13 6 72
Retinitis Pigmentosa 65 57 29 6 72
Cord15 57 12 74
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:



External Ids:

Disease Ontology 12 DOID:0111021
MeSH 44 D058499
UMLS 72 C3150912 C3552852

Summaries for Cone-Rod Dystrophy 15

UniProtKB/Swiss-Prot : 74 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 nyctalopia

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

More information from OMIM: 613660 PS120970 PS268000

Related Diseases for Cone-Rod Dystrophy 15

Symptoms & Phenotypes for Cone-Rod Dystrophy 15

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 nyctalopia 32 occasional (7.5%) HP:0000662
3 progressive visual loss 32 HP:0000529
4 rod-cone dystrophy 32 HP:0000510
5 cone/cone-rod dystrophy 32 HP:0000548
6 color vision defect 32 HP:0000551

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

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

Articles related to Cone-Rod Dystrophy 15:

# Title Authors PMID Year
1
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. 8 71
20805371 2010
2
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 8 71
20087419 2010
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
5
Cone rod dystrophies. 71
17270046 2007
6
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
7
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000

Variations for Cone-Rod Dystrophy 15

ClinVar genetic disease variations for Cone-Rod Dystrophy 15:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CDHR1 NM_001171971.3(CDHR1): c.1463del (p.Gly488fs) deletion Pathogenic rs756678484 10:85970899-85970899 10:84211143-84211143
2 CDHR1 NM_001171971.3(CDHR1): c.524dup (p.Asn176fs) duplication Pathogenic 10:85960442-85960442 10:84200686-84200686
3 CDHR1 NM_001171971.3(CDHR1): c.338del (p.Gly113fs) deletion Pathogenic 10:85957582-85957582 10:84197826-84197826
4 CDHR1 NM_001171971.3(CDHR1): c.526-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs190906755 10:85961556-85961556 10:84201800-84201800
5 CDHR1 NM_001171971.3(CDHR1): c.1071C> T (p.Ser357=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588811 10:85968037-85968037 10:84208281-84208281
6 CDHR1 NM_001171971.3(CDHR1): c.1461G> A (p.Gly487=) single nucleotide variant Conflicting interpretations of pathogenicity rs141787212 10:85970897-85970897 10:84211141-84211141
7 CDHR1 NM_001171971.3(CDHR1): c.783G> A (p.Pro261=) single nucleotide variant Conflicting interpretations of pathogenicity rs147346345 10:85962879-85962879 10:84203123-84203123
8 CDHR1 NM_001171971.3(CDHR1): c.1132C> T (p.Arg378Trp) single nucleotide variant Uncertain significance rs146783539 10:85968098-85968098 10:84208342-84208342
9 CDHR1 NM_001171971.3(CDHR1): c.1133G> A (p.Arg378Gln) single nucleotide variant Uncertain significance rs140621272 10:85968099-85968099 10:84208343-84208343

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

74
# Symbol AA change Variation ID SNP ID
1 CDHR1 p.Pro574Ala VAR_075501

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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