CORD3
MCID: CNR005
MIFTS: 41

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 20 72 29 13 6 15 70
Cord3 57 12 20 72
Dystrophy, Cone Rod, Type 3 39

Characteristics:

HPO:

31
cone-rod dystrophy 3:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset childhood onset young adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111013
OMIM® 57 604116
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
MedGen 41 C1858806
UMLS 70 C1858806

Summaries for Cone-Rod Dystrophy 3

OMIM® : 57 Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. (604116) (Updated 05-Apr-2021)

MalaCards based summary : Cone-Rod Dystrophy 3, also known as cord3, is related to cone-rod dystrophy, x-linked, 3 and cone-rod dystrophy 9. An important gene associated with Cone-Rod Dystrophy 3 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include retina and eye, and related phenotypes are color vision defect and peripheral visual field loss

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

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Cone-Rod Dystrophy 3

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy, x-linked, 3 32.6 CRYAA CACNA1F CABP4
2 cone-rod dystrophy 9 30.1 GUCY2D BRF2
3 cone-rod dystrophy 2 28.2 UNC119 IMPG1 GUF1 GUCY2D CRYAA CRX
4 macular dystrophy, dominant cystoid 10.3 CRYAA ABCA4
5 night blindness, congenital stationary, type 1c 10.2 CACNA1F CABP4
6 abnormal threshold of rods 10.2 CACNA1F CABP4
7 night blindness, congenital stationary, type 1a 10.2 CACNA1F CABP4
8 orbital disease 10.2 ERCC6 CRYAA
9 retinal drusen 10.2 ERCC6 ABCA4
10 pigmented paravenous chorioretinal atrophy 10.2 GUCY2D ABCA4
11 night blindness, congenital stationary, type 2a 10.2 CRYAA CACNA1F
12 occult macular dystrophy 10.2 GUCY2D ABCA4
13 achromatopsia 3 10.1 GUCY2D CACNA1F
14 basal laminar drusen 10.1 IMPG1 ABCA4
15 yemenite deaf-blind hypopigmentation syndrome 10.1 GUCY2D ABCA4
16 cone-rod dystrophy 5 10.1 GUCY2D CABP4
17 doyne honeycomb retinal dystrophy 10.1 ERCC6 CRYAA ABCA4
18 night blindness, congenital stationary, type 1b 10.1 CACNA1F CABP4
19 isolated macular dystrophy 10.1 IMPG1 ABCA4
20 exotropia 10.1 CRYAA BLOC1S1
21 cone-rod dystrophy, x-linked, 1 10.1
22 x-linked congenital stationary night blindness 10.1
23 vitreoretinochoroidopathy 10.1 IMPG1 ABCA4
24 cranial nerve disease 10.1 ERCC6 CRYAA BLOC1S1
25 cone-rod dystrophy 7 10.1 IMPG1 CABP4
26 bestrophinopathy, autosomal recessive 10.1 IMPG1 ABCA4
27 choroid disease 10.1 GUCY2D BLOC1S1 ABCA4
28 optic nerve disease 10.1 ERCC6 CRYAA BLOC1S1
29 cone-rod dystrophy 17 10.1 UNC119 GUCY2D
30 scotoma 10.1 GUCY2D ABCA4
31 choroideremia 10.1 GUCY2D BLOC1S1 ABCA4
32 color blindness 10.1 GUCY2D CRYAA ABCA4
33 metaphyseal chondrodysplasia, schmid type 10.0 ERCC6 CRYAA
34 macular dystrophy, concentric annular 10.0 CRX ABCA4
35 intraocular retinoblastoma 10.0 CRYAA CRX
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 ERCC6 CRYAA BLOC1S1 ABCA4
37 autosomal genetic disease 10.0 ERCC6 CRYAA BLOC1S1 ABCA4
38 retinitis pigmentosa 63 10.0 ERCC6 CRX
39 night blindness 9.9 GUCY2D CACNA1F CABP4 ABCA4
40 aland island eye disease 9.9 GUCY2D CACNA1F CABP4 ABCA4
41 leber congenital amaurosis 7 9.9 GUCY2D CRX
42 leber congenital amaurosis 8 9.9 GUCY2D CRX
43 autosomal dominant cerebellar ataxia 9.9 ERCC6 CRYAA BLOC1S1
44 leber congenital amaurosis 6 9.9 GUCY2D CRX
45 leber congenital amaurosis 9 9.8 GUCY2D CRX
46 enophthalmos 9.8 GUCY2D ERCC6 CRYAA CABP4
47 leber congenital amaurosis 10 9.8 GUCY2D CRX
48 autosomal recessive disease 9.8 ERCC6 CRYAA BLOC1S1
49 leber congenital amaurosis 4 9.8 GUCY2D CRX
50 partial central choroid dystrophy 9.8 GUCY2D CRX ABCA4

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 color vision defect 31 very rare (1%) HP:0000551
2 peripheral visual field loss 31 very rare (1%) HP:0007994
3 central scotoma 31 very rare (1%) HP:0000603
4 bull's eye maculopathy 31 very rare (1%) HP:0011504
5 optic disc pallor 31 HP:0000543
6 pigmentary retinopathy 31 HP:0000580
7 visual loss 31 HP:0000572
8 cone/cone-rod dystrophy 31 HP:0000548
9 attenuation of retinal blood vessels 31 HP:0007843
10 electronegative electroretinogram 31 HP:0007984

Clinical features from OMIM®:

604116 (Updated 05-Apr-2021)

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 BRF2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 ERCC6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.78 CABP4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.78 CABP4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.78 CRYAA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 ERCC6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 ERCC6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.78 BRF2 CABP4 CRYAA ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.78 CABP4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.78 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.78 ERCC6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.78 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 CRYAA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.78 BRF2 CABP4 CRYAA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.78 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.78 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.78 ERCC6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 BRF2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.78 BRF2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.78 ERCC6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.78 CRYAA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.78 BRF2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 CABP4

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 ABCA4 BLOC1S1 CRX UNC119
2 vision/eye MP:0005391 9.23 ABCA4 BLOC1S1 CABP4 CACNA1F CRX ERCC6

Drugs & Therapeutics for Cone-Rod Dystrophy 3

Search Clinical Trials , 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:

40
Retina, Eye

Publications for Cone-Rod Dystrophy 3

Articles related to Cone-Rod Dystrophy 3:

(show top 50) (show all 56)
# Title Authors PMID Year
1
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 6 57
12796258 2003
2
The ABCA4 gene in autosomal recessive cone-rod dystrophies. 57 6
12515255 2002
3
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 6 57
10958761 2000
4
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 57 6
9466990 1998
5
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. 61 57
16896346 2006
6
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
7
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
8
Modification of the PROM1 disease phenotype by a mutation in ABCA4. 6
31576780 2019
9
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 6
30576320 2018
10
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 6
28181551 2017
11
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
12
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 6
26593885 2016
13
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 6
25097241 2014
14
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 6
25082885 2014
15
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 6
24713488 2014
16
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6
23591405 2014
17
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 6
24444108 2014
18
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 6
23755871 2013
19
Stargardt disease: towards developing a model to predict phenotype. 6
23695285 2013
20
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. 6
23419329 2013
21
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 6
24265693 2013
22
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 6
22264887 2012
23
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. 6
22427542 2012
24
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients. 6
22328824 2012
25
Loss of peripapillary sparing in non-group I Stargardt disease. 6
20696155 2010
26
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 6
19217903 2009
27
ABCA4 disease progression and a proposed strategy for gene therapy. 6
19074458 2009
28
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 6
18285826 2008
29
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. 6
17325136 2007
30
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. 6
16546111 2006
31
Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. 6
16400609 2006
32
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 6
16103129 2005
33
Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. 6
15516930 2004
34
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. 6
15192030 2004
35
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. 57
14709597 2004
36
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. 57
12037008 2002
37
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 6
11919200 2002
38
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. 6
11973624 2002
39
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 6
11385708 2001
40
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 6
10958763 2000
41
Biochemical defects in ABCR protein variants associated with human retinopathies. 6
11017087 2000
42
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 6
10880298 2000
43
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 6
10711710 2000
44
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. 6
10413692 1999
45
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. 6
10090887 1999
46
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 6
9973280 1999
47
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 6
9781034 1998
48
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 6
9503029 1998
49
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 6
9490294 1998
50
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 6
9054934 1997

Variations for Cone-Rod Dystrophy 3

ClinVar genetic disease variations for Cone-Rod Dystrophy 3:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCA4 NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) SNV Pathogenic 438087 rs1553193813 GRCh37: 1:94543303-94543303
GRCh38: 1:94077747-94077747
2 ABCA4 NM_000350.3(ABCA4):c.5899-1G>T SNV Pathogenic 522459 rs1553187160 GRCh37: 1:94473297-94473297
GRCh38: 1:94007741-94007741
3 ABCA4 NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) SNV Pathogenic 522465 rs1553188916 GRCh37: 1:94490577-94490577
GRCh38: 1:94025021-94025021
4 ABCA4 NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) SNV Pathogenic 522787 rs61749412 GRCh37: 1:94528251-94528251
GRCh38: 1:94062695-94062695
5 ABCA4 NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) SNV Pathogenic 599103 rs755733328 GRCh37: 1:94564402-94564402
GRCh38: 1:94098846-94098846
6 ABCA4 NM_000350.3(ABCA4):c.1765del (p.Trp589fs) Deletion Pathogenic 587379 rs1557787559 GRCh37: 1:94528305-94528305
GRCh38: 1:94062749-94062749
7 ABCA4 NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) SNV Pathogenic 99245 rs61752427 GRCh37: 1:94497564-94497564
GRCh38: 1:94032008-94032008
8 ABCA4 NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) SNV Pathogenic 7903 rs61750126 GRCh37: 1:94505604-94505604
GRCh38: 1:94040048-94040048
9 ABCA4 NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) SNV Pathogenic 7909 rs121909206 GRCh37: 1:94481322-94481322
GRCh38: 1:94015766-94015766
10 ABCA4 NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) SNV Pathogenic 7911 rs61753033 GRCh37: 1:94474323-94474323
GRCh38: 1:94008767-94008767
11 ABCA4 NM_000350.3(ABCA4):c.4539+1G>T SNV Pathogenic 99294 rs61751388 GRCh37: 1:94495000-94495000
GRCh38: 1:94029444-94029444
12 ABCA4 NM_000350.3(ABCA4):c.6729+5_6729+19del Deletion Pathogenic 283573 rs749526785 GRCh37: 1:94463398-94463412
GRCh38: 1:93997842-93997856
13 ABCA4 NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) Deletion Pathogenic 236099 rs886044735 GRCh37: 1:94508989-94508989
GRCh38: 1:94043433-94043433
14 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV Pathogenic 99083 rs55732384 GRCh37: 1:94577117-94577117
GRCh38: 1:94111561-94111561
15 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic 99431 rs61753038 GRCh37: 1:94471026-94471026
GRCh38: 1:94005470-94005470
16 ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) SNV Pathogenic 99070 rs61748558 GRCh37: 1:94528780-94528780
GRCh38: 1:94063224-94063224
17 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic 7882 rs61751408 GRCh37: 1:94471065-94471065
GRCh38: 1:94005509-94005509
18 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Pathogenic 7888 rs1800553 GRCh37: 1:94473807-94473807
GRCh38: 1:94008251-94008251
19 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
20 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7901 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
21 ABCA4 NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) Deletion Pathogenic 7902 rs62642560 GRCh37: 1:94517225-94517226
GRCh38: 1:94051669-94051670
22 ABCA4 NM_000350.3(ABCA4):c.2888del (p.Gly963fs) Deletion Pathogenic 7905 rs61752410 GRCh37: 1:94512505-94512505
GRCh38: 1:94046949-94046949
23 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic 92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
24 ABCA4 NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) Deletion Pathogenic 7910 rs387906388 GRCh37: 1:94505651-94505666
GRCh38: 1:94040095-94040110
25 ABCA4 NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter) SNV Pathogenic 99325 rs61752439 GRCh37: 1:94486960-94486960
GRCh38: 1:94021404-94021404
26 ABCA4 NM_000350.3(ABCA4):c.5714+5G>A SNV Pathogenic 99403 rs61751407 GRCh37: 1:94476351-94476351
GRCh38: 1:94010795-94010795
27 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic 7904 rs61750130 GRCh37: 1:94496666-94496666
GRCh38: 1:94031110-94031110
28 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic 7894 rs61751374 GRCh37: 1:94508969-94508969
GRCh38: 1:94043413-94043413
29 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 GRCh37: 1:94564350-94564350
GRCh38: 1:94098794-94098794
30 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic 7898 rs61750200 GRCh37: 1:94564484-94564484
GRCh38: 1:94098928-94098928
31 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic 99224 rs1801269 GRCh37: 1:94506901-94506901
GRCh38: 1:94041345-94041345
32 ABCA4 NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) SNV Pathogenic 143077 rs62645952 GRCh37: 1:94564355-94564355
GRCh38: 1:94098799-94098799
33 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic 7907 rs61751383 GRCh37: 1:94471056-94471056
GRCh38: 1:94005500-94005500
34 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic 7882 rs61751408 GRCh37: 1:94471065-94471065
GRCh38: 1:94005509-94005509
35 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic 92870 rs1800728 GRCh37: 1:94476951-94476951
GRCh38: 1:94011395-94011395
36 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) SNV Pathogenic 99084 rs61749409 GRCh37: 1:94528266-94528266
GRCh38: 1:94062710-94062710
37 ABCA4 NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) Duplication Pathogenic 99292 rs281865377 GRCh37: 1:94495002-94495003
GRCh38: 1:94029446-94029447
38 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 GRCh37: 1:94564350-94564350
GRCh38: 1:94098794-94098794
39 ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV Pathogenic/Likely pathogenic 7879 rs76157638 GRCh37: 1:94517254-94517254
GRCh38: 1:94051698-94051698
40 ABCA4 NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs) Microsatellite Likely pathogenic 1048127 GRCh37: 1:94564389-94564390
GRCh38: 1:94098833-94098834
41 ABCA4 NM_000350.3(ABCA4):c.571-2A>T SNV Likely pathogenic 1048133 GRCh37: 1:94564549-94564549
GRCh38: 1:94098993-94098993
42 ABCA4 NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter) SNV Likely pathogenic 966011 GRCh37: 1:94564383-94564383
GRCh38: 1:94098827-94098827
43 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) SNV Likely pathogenic 99084 rs61749409 GRCh37: 1:94528266-94528266
GRCh38: 1:94062710-94062710
44 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Likely pathogenic 7888 rs1800553 GRCh37: 1:94473807-94473807
GRCh38: 1:94008251-94008251
45 ABCA4 NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) SNV Likely pathogenic 99438 rs61750645 GRCh37: 1:94467467-94467467
GRCh38: 1:94001911-94001911
46 ABCA4 NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) SNV Likely pathogenic 635539 rs1570393848 GRCh37: 1:94528752-94528752
GRCh38: 1:94063196-94063196
47 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Likely pathogenic 99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
48 ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) SNV Likely pathogenic 99108 rs61749420 GRCh37: 1:94526296-94526296
GRCh38: 1:94060740-94060740
49 ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) SNV Likely pathogenic 99284 rs61750146 GRCh37: 1:94495078-94495078
GRCh38: 1:94029522-94029522
50 ABCA4 NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) Indel Likely pathogenic 866082 GRCh37: 1:94485196-94485197
GRCh38: 1:94019640-94019641

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

72 (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

Expression for Cone-Rod Dystrophy 3

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

Pathways for Cone-Rod Dystrophy 3

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 disc membrane GO:0097381 8.96 GUCY2D ABCA4
2 photoreceptor outer segment GO:0001750 8.92 IMPG1 GUCY2D CACNA1F ABCA4

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 UNC119 GUCY2D CRYAA CRX CACNA1F ABCA4
2 photoreceptor cell maintenance GO:0045494 9.32 ERCC6 ABCA4
3 positive regulation of protein tyrosine kinase activity GO:0061098 9.26 UNC119 ERCC6
4 visual perception GO:0007601 9.23 UNC119 IMPG1 GUCY2D CRYAA CRX CACNA1F
5 phototransduction GO:0007602 9.16 UNC119 CABP4

Sources for Cone-Rod Dystrophy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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