CORD3
MCID: CNR005
MIFTS: 28

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 57 12 53 75 29 13 6 15 73
Cord3 57 12 53 75
Dystrophy, Cone Rod, Type 3 40

Classifications:



External Ids:

OMIM 57 604116
Disease Ontology 12 DOID:0111013
MedGen 42 C1858806
MeSH 44 D058499
UMLS 73 C1858806

Summaries for Cone-Rod Dystrophy 3

UniProtKB/Swiss-Prot : 75 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 related phenotypes are visual loss and abnormality of color vision

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

Clinical features from OMIM:

604116

Human phenotypes related to Cone-Rod Dystrophy 3:

32
# Description HPO Frequency HPO Source Accession
1 visual loss 32 HP:0000572
2 abnormality of color vision 32 HP:0000551
3 central scotoma 32 HP:0000603
4 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 3:

46
# 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 Active, not recruiting 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 29 ABCA4

Anatomical Context for Cone-Rod Dystrophy 3

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

41
Eye

Publications for Cone-Rod Dystrophy 3

Articles related to Cone-Rod Dystrophy 3:

# Title Authors Year
1
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. ( 24124559 )
2013
2
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. ( 20806078 )
2010

Variations for Cone-Rod Dystrophy 3

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

75 (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 58)
# 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.3539_3554del16 (p.Ser1181Profs) deletion Pathogenic rs387906388 GRCh37 Chromosome 1, 94505652: 94505667
6 ABCA4 NM_000350.2(ABCA4): c.3539_3554del16 (p.Ser1181Profs) deletion Pathogenic rs387906388 GRCh38 Chromosome 1, 94040096: 94040111
7 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
8 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
9 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
10 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
11 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
12 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
13 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh37 Chromosome 1, 94528806: 94528806
14 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh38 Chromosome 1, 94063250: 94063250
15 ABCA4 NM_000350.2(ABCA4): c.2616_2617delCT (p.Phe873Serfs) deletion Pathogenic rs62642560 GRCh37 Chromosome 1, 94517225: 94517226
16 ABCA4 NM_000350.2(ABCA4): c.2616_2617delCT (p.Phe873Serfs) deletion Pathogenic rs62642560 GRCh38 Chromosome 1, 94051669: 94051670
17 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh37 Chromosome 1, 94505604: 94505604
18 ABCA4 NM_000350.2(ABCA4): c.3602T> G (p.Leu1201Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61750126 GRCh38 Chromosome 1, 94040048: 94040048
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.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh37 Chromosome 1, 94481322: 94481322
22 ABCA4 NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp) single nucleotide variant Pathogenic rs121909206 GRCh38 Chromosome 1, 94015766: 94015766
23 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh37 Chromosome 1, 94474323: 94474323
24 ABCA4 NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro) single nucleotide variant Pathogenic rs61753033 GRCh38 Chromosome 1, 94008767: 94008767
25 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
26 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
27 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
28 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh38 Chromosome 1, 94079339: 94079339
29 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
30 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh38 Chromosome 1, 94111579: 94111579
31 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh37 Chromosome 1, 94495000: 94495000
32 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh38 Chromosome 1, 94029444: 94029444
33 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
34 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795
35 ABCA4 NM_000350.2(ABCA4): c.6449G> A (p.Cys2150Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs61751384 GRCh37 Chromosome 1, 94466422: 94466422
36 ABCA4 NM_000350.2(ABCA4): c.6449G> A (p.Cys2150Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs61751384 GRCh38 Chromosome 1, 94000866: 94000866
37 ABCA4 NM_000350.2(ABCA4): c.763C> T (p.Arg255Cys) single nucleotide variant Pathogenic rs62645952 GRCh37 Chromosome 1, 94564355: 94564355
38 ABCA4 NM_000350.2(ABCA4): c.763C> T (p.Arg255Cys) single nucleotide variant Pathogenic rs62645952 GRCh38 Chromosome 1, 94098799: 94098799
39 ABCA4 NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter) single nucleotide variant Pathogenic rs794727903 GRCh37 Chromosome 1, 94546253: 94546253
40 ABCA4 NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter) single nucleotide variant Pathogenic rs794727903 GRCh38 Chromosome 1, 94080697: 94080697
41 ABCA4 NM_000350.2(ABCA4): c.1964T> G (p.Phe655Cys) single nucleotide variant Likely pathogenic rs200692438 GRCh37 Chromosome 1, 94526289: 94526289
42 ABCA4 NM_000350.2(ABCA4): c.1964T> G (p.Phe655Cys) single nucleotide variant Likely pathogenic rs200692438 GRCh38 Chromosome 1, 94060733: 94060733
43 ABCA4 NM_000350.2(ABCA4): c.3093delA (p.Gly1032Glufs) deletion Pathogenic rs886044735 GRCh38 Chromosome 1, 94043433: 94043433
44 ABCA4 NM_000350.2(ABCA4): c.3093delA (p.Gly1032Glufs) deletion Pathogenic rs886044735 GRCh37 Chromosome 1, 94508989: 94508989
45 ABCA4 NM_000350.2(ABCA4): c.5333T> A (p.Met1778Lys) single nucleotide variant Likely pathogenic rs748706582 GRCh37 Chromosome 1, 94480226: 94480226
46 ABCA4 NM_000350.2(ABCA4): c.5333T> A (p.Met1778Lys) single nucleotide variant Likely pathogenic rs748706582 GRCh38 Chromosome 1, 94014670: 94014670
47 ABCA4 NM_000350.2(ABCA4): c.1339C> T (p.Gln447Ter) single nucleotide variant Likely pathogenic rs886039882 GRCh38 Chromosome 1, 94078607: 94078607
48 ABCA4 NM_000350.2(ABCA4): c.1339C> T (p.Gln447Ter) single nucleotide variant Likely pathogenic rs886039882 GRCh37 Chromosome 1, 94544163: 94544163
49 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh37 Chromosome 1, 94463398: 94463412
50 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh38 Chromosome 1, 93997842: 93997856

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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9 Cosmic
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