CORD15
MCID: CNR025
MIFTS: 36

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 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 chronic interstitial cystitis and prolonged electroretinal response suppression. An important gene associated with Cone-Rod Dystrophy 15 is CDHR1 (Cadherin Related Family Member 1). Affiliated tissues include 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

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 photophobia 31 occasional (7.5%) HP:0000613
2 nyctalopia 31 occasional (7.5%) HP:0000662
3 progressive visual loss 31 HP:0000529
4 color vision defect 31 HP:0000551
5 rod-cone dystrophy 31 HP:0000510
6 cone/cone-rod dystrophy 31 HP:0000548

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 9.02 ATP8A2 CDHR1 FSCN2 IFT57 PROM2

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
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. 6 56
20805371 2010
2
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 6 56
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 top 50) (show all 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDHR1 NM_033100.4(CDHR1):c.1782+1deldeletion Pathogenic 802596 10:85972163-85972163 10:84212407-84212407
2 CDHR1 NM_033100.4(CDHR1):c.1463del (p.Gly488fs)deletion Pathogenic 438116 rs756678484 10:85970895-85970895 10:84211139-84211139
3 CDHR1 NM_033100.4(CDHR1):c.524dup (p.Asn176fs)duplication Pathogenic 18416 rs781781440 10:85960441-85960442 10:84200685-84200686
4 CDHR1 NM_033100.4(CDHR1):c.338del (p.Gly113fs)deletion Pathogenic 37292 rs747425652 10:85957581-85957581 10:84197825-84197825
5 CDHR1 NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)SNV Conflicting interpretations of pathogenicity 286108 rs150969538 10:85974026-85974026 10:84214270-84214270
6 CDHR1 NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)SNV Conflicting interpretations of pathogenicity 301233 rs146588811 10:85968037-85968037 10:84208281-84208281
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.1868A>G (p.Asn623Ser)SNV Conflicting interpretations of pathogenicity 252762 rs137876961 10:85972932-85972932 10:84213176-84213176
9 CDHR1 NM_033100.4(CDHR1):c.964-10C>TSNV Conflicting interpretations of pathogenicity 301230 rs886047327 10:85967920-85967920 10:84208164-84208164
10 CDHR1 NM_033100.4(CDHR1):c.152-9T>CSNV Conflicting interpretations of pathogenicity 301211 rs754726772 10:85956252-85956252 10:84196496-84196496
11 CDHR1 NM_033100.4(CDHR1):c.547G>A (p.Val183Met)SNV Conflicting interpretations of pathogenicity 301219 rs142109115 10:85961584-85961584 10:84201828-84201828
12 CDHR1 NM_033100.4(CDHR1):c.2367G>A (p.Pro789=)SNV Conflicting interpretations of pathogenicity 301258 rs150097621 10:85974164-85974164 10:84214408-84214408
13 CDHR1 NM_033100.4(CDHR1):c.1206C>T (p.Pro402=)SNV Conflicting interpretations of pathogenicity 301236 rs149181127 10:85968523-85968523 10:84208767-84208767
14 CDHR1 NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)SNV Conflicting interpretations of pathogenicity 301240 rs141787212 10:85970897-85970897 10:84211141-84211141
15 CDHR1 NM_033100.4(CDHR1):c.783G>A (p.Pro261=)SNV Conflicting interpretations of pathogenicity 301224 rs147346345 10:85962879-85962879 10:84203123-84203123
16 CDHR1 NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)SNV Conflicting interpretations of pathogenicity 301208 rs138182270 10:85955312-85955312 10:84195556-84195556
17 CDHR1 NM_033100.4(CDHR1):c.1553+6T>CSNV Conflicting interpretations of pathogenicity 301244 rs199567321 10:85971477-85971477 10:84211721-84211721
18 CDHR1 NM_033100.4(CDHR1):c.1873C>G (p.His625Asp)SNV Conflicting interpretations of pathogenicity 301250 rs149043166 10:85972937-85972937 10:84213181-84213181
19 CDHR1 NM_033100.4(CDHR1):c.1982G>C (p.Arg661Pro)SNV Uncertain significance 301251 rs150840551 10:85973046-85973046 10:84213290-84213290
20 CDHR1 NM_033100.4(CDHR1):c.1589C>G (p.Thr530Ser)SNV Uncertain significance 301245 rs140097244 10:85971970-85971970 10:84212214-84212214
21 CDHR1 NM_033100.4(CDHR1):c.138G>A (p.Glu46=)SNV Uncertain significance 301209 rs886047322 10:85955332-85955332 10:84195576-84195576
22 CDHR1 NM_033100.4(CDHR1):c.2161A>G (p.Thr721Ala)SNV Uncertain significance 301255 rs886047328 10:85973958-85973958 10:84214202-84214202
23 CDHR1 NM_033100.4(CDHR1):c.*242T>GSNV Uncertain significance 301265 rs886047331 10:85974619-85974619 10:84214863-84214863
24 CDHR1 NM_033100.4(CDHR1):c.*305C>GSNV Uncertain significance 301268 rs41291360 10:85974682-85974682 10:84214926-84214926
25 CDHR1 NM_033100.4(CDHR1):c.*583G>ASNV Uncertain significance 301274 rs886047333 10:85974960-85974960 10:84215204-84215204
26 CDHR1 NM_033100.4(CDHR1):c.*838G>TSNV Uncertain significance 301277 rs886047336 10:85975215-85975215 10:84215459-84215459
27 CDHR1 NM_033100.4(CDHR1):c.*927T>CSNV Uncertain significance 301283 rs886047338 10:85975304-85975304 10:84215548-84215548
28 CDHR1 NM_033100.4(CDHR1):c.*1082A>CSNV Uncertain significance 301288 rs886047340 10:85975459-85975459 10:84215703-84215703
29 CDHR1 NM_033100.4(CDHR1):c.*1737C>TSNV Uncertain significance 301298 rs181800100 10:85976114-85976114 10:84216358-84216358
30 CDHR1 NM_033100.4(CDHR1):c.783+11G>ASNV Uncertain significance 301226 rs767235020 10:85962890-85962890 10:84203134-84203134
31 CDHR1 NM_033100.4(CDHR1):c.848A>G (p.Tyr283Cys)SNV Uncertain significance 301227 rs886047326 10:85964347-85964347 10:84204591-84204591
32 CDHR1 NM_033100.4(CDHR1):c.886A>G (p.Asn296Asp)SNV Uncertain significance 301229 rs562607967 10:85965606-85965606 10:84205850-84205850
33 CDHR1 NM_033100.4(CDHR1):c.1072G>A (p.Gly358Arg)SNV Uncertain significance 301234 rs140077265 10:85968038-85968038 10:84208282-84208282
34 CDHR1 NM_033100.4(CDHR1):c.1344C>T (p.Thr448=)SNV Uncertain significance 301238 rs542195636 10:85970780-85970780 10:84211024-84211024
35 CDHR1 NM_033100.4(CDHR1):c.1464C>T (p.Gly488=)SNV Uncertain significance 301241 rs193142630 10:85970900-85970900 10:84211144-84211144
36 CDHR1 NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)SNV Uncertain significance 301243 rs138638103 10:85970907-85970907 10:84211151-84211151
37 CDHR1 NM_033100.4(CDHR1):c.1730G>A (p.Gly577Glu)SNV Uncertain significance 301246 rs761537924 10:85972111-85972111 10:84212355-84212355
38 CDHR1 NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr)SNV Uncertain significance 301247 rs141250715 10:85972913-85972913 10:84213157-84213157
39 CDHR1 NM_033100.4(CDHR1):c.*269C>TSNV Uncertain significance 301267 rs375246992 10:85974646-85974646 10:84214890-84214890
40 CDHR1 NM_033100.4(CDHR1):c.*914C>ASNV Uncertain significance 301282 rs886047337 10:85975291-85975291 10:84215535-84215535
41 CDHR1 NM_033100.4(CDHR1):c.*935C>TSNV Uncertain significance 301284 rs560033657 10:85975312-85975312 10:84215556-84215556
42 CDHR1 NM_033100.4(CDHR1):c.*1174G>ASNV Uncertain significance 301289 rs886047341 10:85975551-85975551 10:84215795-84215795
43 CDHR1 NM_033100.4(CDHR1):c.*1260C>TSNV Uncertain significance 301291 rs886047342 10:85975637-85975637 10:84215881-84215881
44 CDHR1 NM_033100.4(CDHR1):c.*1914C>GSNV Uncertain significance 301300 rs553379136 10:85976291-85976291 10:84216535-84216535
45 CDHR1 NM_033100.4(CDHR1):c.*2019A>GSNV Uncertain significance 301303 rs546338766 10:85976396-85976396 10:84216640-84216640
46 CDHR1 NM_033100.4(CDHR1):c.*2577G>CSNV Uncertain significance 301311 rs886047349 10:85976954-85976954 10:84217198-84217198
47 CDHR1 NM_033100.4(CDHR1):c.640-14C>TSNV Uncertain significance 301221 rs376451005 10:85962722-85962722 10:84202966-84202966
48 CDHR1 NM_033100.4(CDHR1):c.783+3G>ASNV Uncertain significance 301225 rs759265185 10:85962882-85962882 10:84203126-84203126
49 CDHR1 NM_033100.4(CDHR1):c.439-12T>CSNV Uncertain significance 301216 rs886047325 10:85960345-85960345 10:84200589-84200589
50 CDHR1 NM_033100.4(CDHR1):c.700G>A (p.Val234Ile)SNV Uncertain significance 301222 rs148356887 10:85962796-85962796 10:84203040-84203040

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 cell projection GO:0042995 9.26 PROM2 IFT57 FSCN2 ATP8A2
2 photoreceptor outer segment GO:0001750 9.16 CNGB1 ATP8A2
3 ciliary membrane GO:0060170 8.62 PROM2 CNGB1

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 GRK7 FSCN2 CNGB1
2 photoreceptor cell maintenance GO:0045494 9.32 CNGB1 CDHR1
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 GRK7 CNGB1
4 detection of light stimulus involved in visual perception GO:0050908 8.96 CNGB1 ATP8A2
5 photoreceptor cell outer segment organization GO:0035845 8.62 CNGB1 CDHR1

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
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