CORD15
MCID: CNR025
MIFTS: 35

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 56 12 73 29 13 6 15 71
Retinitis Pigmentosa 65 56 29 6 71
Cord15 56 12 73
Dystrophy, Cone-Rod, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life


HPO:

31
cone-rod dystrophy 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111021
OMIM 56 613660
OMIM Phenotypic Series 56 PS120970 PS268000
MeSH 43 D058499
UMLS 71 C3150912 C3552852

Summaries for Cone-Rod Dystrophy 15

UniProtKB/Swiss-Prot : 73 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, also known as retinitis pigmentosa 65, is related to deafness, autosomal recessive 23 and usher syndrome, type if. 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 nyctalopia and photophobia

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

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 15:



Diseases related to Cone-Rod Dystrophy 15

Symptoms & Phenotypes for Cone-Rod Dystrophy 15

Human phenotypes related to Cone-Rod Dystrophy 15:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 photophobia 31 occasional (7.5%) HP:0000613
3 rod-cone dystrophy 31 HP:0000510
4 progressive visual loss 31 HP:0000529
5 cone/cone-rod dystrophy 31 HP:0000548
6 color vision defect 31 HP:0000551

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 15:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 ATP8A2 CARMIL2 CDHR1 FSCN2 GPR179 MYO7A
2 pigmentation MP:0001186 9.13 ATP8A2 CARMIL2 MYO7A

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:

40
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. 56 6
20805371 2010
2
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 56 6
20087419 2010
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Cone rod dystrophies. 6
17270046 2007
6
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
7
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Cone-Rod Dystrophy 15

ClinVar genetic disease variations for Cone-Rod Dystrophy 15:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDHR1 NM_033100.4(CDHR1):c.524dup (p.Asn176fs)duplication Pathogenic 18416 rs781781440 10:85960441-85960442 10:84200685-84200686
2 CDHR1 NM_033100.4(CDHR1):c.338del (p.Gly113fs)deletion Pathogenic 37292 rs747425652 10:85957581-85957581 10:84197825-84197825
3 CDHR1 NM_033100.4(CDHR1):c.1463del (p.Gly488fs)deletion Pathogenic 438116 rs756678484 10:85970895-85970895 10:84211139-84211139
4 CDHR1 NM_033100.4(CDHR1):c.1782+1deldeletion Pathogenic 802596 10:85972163-85972163 10:84212407-84212407
5 CDHR1 NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)SNV Conflicting interpretations of pathogenicity 301240 rs141787212 10:85970897-85970897 10:84211141-84211141
6 CDHR1 NM_033100.4(CDHR1):c.783G>A (p.Pro261=)SNV Conflicting interpretations of pathogenicity 301224 rs147346345 10:85962879-85962879 10:84203123-84203123
7 CDHR1 NM_033100.4(CDHR1):c.526-7C>GSNV Conflicting interpretations of pathogenicity 198604 rs190906755 10:85961556-85961556 10:84201800-84201800
8 CDHR1 NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)SNV Conflicting interpretations of pathogenicity 301233 rs146588811 10:85968037-85968037 10:84208281-84208281
9 CDHR1 NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)SNV Uncertain significance 301235 rs140621272 10:85968099-85968099 10:84208343-84208343
10 CDHR1 NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)SNV Uncertain significance 587383 rs146783539 10:85968098-85968098 10:84208342-84208342
11 CDHR1 NM_033100.4(CDHR1):c.348+5G>TSNV Uncertain significance 802594 10:85957597-85957597 10:84197841-84197841
12 CDHR1 NM_033100.4(CDHR1):c.862+4A>CSNV Uncertain significance 802595 10:85964365-85964365 10:84204609-84204609
13 CDHR1 NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)SNV Uncertain significance 802597 10:85973994-85973994 10:84214238-84214238

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

73
# 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

Cellular components related to Cone-Rod Dystrophy 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.26 MYO7A ATP8A2
2 cell projection GO:0042995 9.26 PROM2 FSCN2 CARMIL2 ATP8A2
3 microvillus GO:0005902 9.16 PROM2 MYO7A
4 stereocilium GO:0032420 8.62 MYO7A FSCN2

Biological processes related to Cone-Rod Dystrophy 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.26 MYO7A ATP8A2
2 establishment or maintenance of cell polarity GO:0007163 9.16 FSCN2 CARMIL2
3 visual perception GO:0007601 9.13 MYO7A GPR179 FSCN2
4 eye photoreceptor cell development GO:0042462 8.62 MYO7A FSCN2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....