CORD3
MCID: CNR005
MIFTS: 30

Cone-Rod Dystrophy 3 (CORD3)

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

Aliases & Classifications for Cone-Rod Dystrophy 3

MalaCards integrated aliases for Cone-Rod Dystrophy 3:

Name: Cone-Rod Dystrophy 3 58 12 54 76 30 13 6 15 74
Cord3 58 12 54 76
Dystrophy, Cone Rod, Type 3 41

Characteristics:


Classifications:



External Ids:

Disease Ontology 12 DOID:0111013
OMIM 58 604116
MeSH 45 D058499
MedGen 43 C1858806
UMLS 74 C1858806

Summaries for Cone-Rod Dystrophy 3

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 3: 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 3, also known as cord3, is related to cone-rod dystrophy 9 and cone-rod dystrophy, x-linked, 3. An important gene associated with Cone-Rod Dystrophy 3 is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways is Development Endothelin-1/EDNRA signaling. Affiliated tissues include eye and retina, and related phenotypes are visual loss and central scotoma

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22.

Description from OMIM: 604116

Related Diseases for Cone-Rod Dystrophy 3

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 3:



Diseases related to Cone-Rod Dystrophy 3

Symptoms & Phenotypes for Cone-Rod Dystrophy 3

Human phenotypes related to Cone-Rod Dystrophy 3:

33
# Description HPO Frequency HPO Source Accession
1 visual loss 33 HP:0000572
2 central scotoma 33 HP:0000603
3 cone/cone-rod dystrophy 33 HP:0000548
4 color vision defect 33 HP:0000551

Clinical features from OMIM:

604116

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 ABCA4 ADAM9 CACNA1F

Drugs & Therapeutics for Cone-Rod Dystrophy 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Cord Milking on Hemodynamic Status of Preterm Infants Unknown status NCT01487187 Not Applicable

Search NIH Clinical Center for Cone-Rod Dystrophy 3

Genetic Tests for Cone-Rod Dystrophy 3

Genetic tests related to Cone-Rod Dystrophy 3:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 3 30 ABCA4

Anatomical Context for Cone-Rod Dystrophy 3

MalaCards organs/tissues related to Cone-Rod Dystrophy 3:

42
Eye, Retina

Publications for Cone-Rod Dystrophy 3

Articles related to Cone-Rod Dystrophy 3:

(show all 22)
# Title Authors Year
1
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
2
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. ( 24124559 )
2013
3
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. ( 20806078 )
2010
4
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. ( 18285826 )
2008
5
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. ( 17325136 )
2007
6
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. ( 16546111 )
2006
7
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. ( 16400609 )
2006
8
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. ( 16103129 )
2005
9
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. ( 15516930 )
2004
10
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. ( 15192030 )
2004
11
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. ( 12796258 )
2003
12
The ABCA4 gene in autosomal recessive cone-rod dystrophies. ( 12515255 )
2002
13
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. ( 11919200 )
2002
14
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. ( 11973624 )
2002
15
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. ( 10958763 )
2000
16
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. ( 10958761 )
2000
17
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. ( 10880298 )
2000
18
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. ( 9973280 )
1999
19
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. ( 10090887 )
1999
20
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. ( 9466990 )
1998
21
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. ( 9490294 )
1998
22
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. ( 9054934 )
1997

Variations for Cone-Rod Dystrophy 3

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 3:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ABCA4 p.Gly65Glu VAR_008401 rs62654395
2 ABCA4 p.Arg212Cys VAR_008406 rs61750200
3 ABCA4 p.Ala407Val VAR_008411 rs61751264
4 ABCA4 p.Leu541Pro VAR_008415 rs61751392
5 ABCA4 p.Gly863Ala VAR_008425 rs76157638
6 ABCA4 p.Ala1038Val VAR_008433 rs61751374
7 ABCA4 p.Glu1122Lys VAR_008438 rs61751399
8 ABCA4 p.Cys1490Tyr VAR_008454 rs61751402
9 ABCA4 p.Ile1562Thr VAR_008458 rs1762111
10 ABCA4 p.Arg1640Trp VAR_008461 rs61751404
11 ABCA4 p.Cys2150Tyr VAR_008489 rs61751384
12 ABCA4 p.Ala1598Asp VAR_012581 rs61750155
13 ABCA4 p.Arg1640Gln VAR_012583 rs61751403
14 ABCA4 p.Leu2060Arg VAR_012607 rs61753039
15 ABCA4 p.Gly2146Asp VAR_012611 rs61753044

ClinVar genetic disease variations for Cone-Rod Dystrophy 3:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh37 Chromosome 1, 94517254: 94517254
2 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh38 Chromosome 1, 94051698: 94051698
3 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
4 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh38 Chromosome 1, 94005509: 94005509
5 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
6 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
7 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
8 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
9 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
10 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
11 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh37 Chromosome 1, 94528806: 94528806
12 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh38 Chromosome 1, 94063250: 94063250
13 ABCA4 NM_000350.2(ABCA4): c.2616_2617delCT (p.Phe873Serfs) deletion Pathogenic rs62642560 GRCh37 Chromosome 1, 94517225: 94517226
14 ABCA4 NM_000350.2(ABCA4): c.2616_2617delCT (p.Phe873Serfs) deletion Pathogenic rs62642560 GRCh38 Chromosome 1, 94051669: 94051670
15 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh37 Chromosome 1, 94505604: 94505604
16 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh38 Chromosome 1, 94040048: 94040048
17 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
18 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
19 ABCA4 NM_000350.2(ABCA4): c.2888delG (p.Gly963Alafs) deletion Pathogenic rs61752410 GRCh37 Chromosome 1, 94512505: 94512505
20 ABCA4 NM_000350.2(ABCA4): c.2888delG (p.Gly963Alafs) deletion Pathogenic rs61752410 GRCh38 Chromosome 1, 94046949: 94046949
21 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
22 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
23 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
24 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh38 Chromosome 1, 94015766: 94015766
25 ABCA4 NM_000350.2(ABCA4): c.3539_3554del16 (p.Ser1181Profs) deletion Pathogenic rs387906388 GRCh37 Chromosome 1, 94505652: 94505667
26 ABCA4 NM_000350.2(ABCA4): c.3539_3554del16 (p.Ser1181Profs) deletion Pathogenic rs387906388 GRCh38 Chromosome 1, 94040096: 94040111
27 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
28 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
29 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
30 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
31 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh37 Chromosome 1, 94544977: 94544977
32 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh38 Chromosome 1, 94079421: 94079421
33 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
34 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh38 Chromosome 1, 94111579: 94111579
35 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh37 Chromosome 1, 94528780: 94528780
36 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh38 Chromosome 1, 94063224: 94063224
37 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh37 Chromosome 1, 94577117: 94577117
38 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh38 Chromosome 1, 94111561: 94111561
39 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh37 Chromosome 1, 94526296: 94526296
40 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh38 Chromosome 1, 94060740: 94060740
41 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh37 Chromosome 1, 94506901: 94506901
42 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh38 Chromosome 1, 94041345: 94041345
43 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh37 Chromosome 1, 94495078: 94495078
44 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh38 Chromosome 1, 94029522: 94029522
45 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh37 Chromosome 1, 94495000: 94495000
46 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh38 Chromosome 1, 94029444: 94029444
47 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh37 Chromosome 1, 94568675: 94568675
48 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh38 Chromosome 1, 94103119: 94103119
49 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
50 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795

Expression for Cone-Rod Dystrophy 3

Search GEO for disease gene expression data for Cone-Rod Dystrophy 3.

Pathways for Cone-Rod Dystrophy 3

Pathways related to Cone-Rod Dystrophy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.21 ADAM9 CACNA1F

GO Terms for Cone-Rod Dystrophy 3

Cellular components related to Cone-Rod Dystrophy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 ABCA4 CACNA1F

Biological processes related to Cone-Rod Dystrophy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 ABCA4 CACNA1F

Sources for Cone-Rod Dystrophy 3

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