CORDX3
MCID: CNR038
MIFTS: 29

Cone-Rod Dystrophy, X-Linked, 3 (CORDX3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy, X-Linked, 3

MalaCards integrated aliases for Cone-Rod Dystrophy, X-Linked, 3:

Name: Cone-Rod Dystrophy, X-Linked, 3 58 74
Cordx3 58 12 54 76
Cone-Rod Dystrophy X-Linked 3 54 30 6
X-Linked Cone-Rod Dystrophy 3 12 15
Dystrophy, Cone-Rod, X-Linked, Type 3 41
Cone-Rod Dystrophy, X-Linked 3 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
onset of symptoms in early childhood in most patients
disease shows slow progression


HPO:

33
cone-rod dystrophy, x-linked, 3:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy, X-Linked, 3

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy, X-linked 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, X-Linked, 3, also known as cordx3, is related to cone-rod dystrophy 2 and cone-rod dystrophy, x-linked, 2. An important gene associated with Cone-Rod Dystrophy, X-Linked, 3 is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). Affiliated tissues include eye, and related phenotypes are nystagmus and photophobia

Disease Ontology : 12 A cone-rod dystrophy that has material basis in mutation in the CACNA1F gene on chromosome Xp11.

OMIM : 58 Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013). For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020. (300476)

Related Diseases for Cone-Rod Dystrophy, X-Linked, 3

Diseases in the Cone-Rod Dystrophy, X-Linked, 1 family:

Cone-Rod Dystrophy, X-Linked, 2 Cone-Rod Dystrophy, X-Linked, 3

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.2
2 cone-rod dystrophy, x-linked, 2 9.9 CACNA1F RPGR
3 achromatopsia 9.9 CACNA1F RPGR
4 retinal disease 9.8 CACNA1F RPGR
5 myopia 9.7 CACNA1F RPGR
6 night blindness 9.7 CABP4 CACNA1F
7 congenital stationary night blindness 9.6 CABP4 CACNA1F
8 leber congenital amaurosis 9.5 CABP4 RPGR

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



Diseases related to Cone-Rod Dystrophy, X-Linked, 3

Symptoms & Phenotypes for Cone-Rod Dystrophy, X-Linked, 3

Human phenotypes related to Cone-Rod Dystrophy, X-Linked, 3:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 photophobia 33 occasional (7.5%) HP:0000613
3 retinal detachment 33 occasional (7.5%) HP:0000541
4 optic disc pallor 33 occasional (7.5%) HP:0000543
5 astigmatism 33 occasional (7.5%) HP:0000483
6 absent foveal reflex 33 occasional (7.5%) HP:0030825
7 myopia 33 HP:0000545
8 reduced visual acuity 33 HP:0007663
9 abnormality of color vision 33 HP:0000551
10 central scotoma 33 HP:0000603
11 abnormality of macular pigmentation 33 HP:0008002
12 cone/cone-rod dystrophy 33 HP:0000548
13 abnormal light- and dark-adapted electroretinogram 33 HP:0008323

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
myopia
nystagmus (in some patients)
decreased visual acuity
retinal detachment (rare)
photophobia (rare)
more

Clinical features from OMIM:

300476

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

27 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.03 CACNA1F RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.03 CACNA1F
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.03 CACNA1F RPGR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.03 RPGR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.03 CACNA1F
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.03 RPGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.03 CACNA1F
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.03 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.03 RPGR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.03 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.03 CACNA1F RPGR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.03 CACNA1F
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.03 RPGR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.03 CACNA1F
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.56 CABP4 CACNA1F
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.56 CACNA1F
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.56 CABP4
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.56 CABP4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.56 CABP4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.56 CACNA1F
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.56 CACNA1F

MGI Mouse Phenotypes related to Cone-Rod Dystrophy, X-Linked, 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CABP4 CACNA1F RPGR

Drugs & Therapeutics for Cone-Rod Dystrophy, X-Linked, 3

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy, X-Linked, 3

Genetic Tests for Cone-Rod Dystrophy, X-Linked, 3

Genetic tests related to Cone-Rod Dystrophy, X-Linked, 3:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy X-Linked 3 30 CACNA1F

Anatomical Context for Cone-Rod Dystrophy, X-Linked, 3

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

42
Eye

Publications for Cone-Rod Dystrophy, X-Linked, 3

Variations for Cone-Rod Dystrophy, X-Linked, 3

ClinVar genetic disease variations for Cone-Rod Dystrophy, X-Linked, 3:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh37 Chromosome X, 49088171: 49088171
2 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh38 Chromosome X, 49231709: 49231709
3 CACNA1F NM_005183.3(CACNA1F): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs863225090 GRCh37 Chromosome X, 49076127: 49076127
4 CACNA1F NM_005183.3(CACNA1F): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs863225090 GRCh38 Chromosome X, 49219668: 49219668
5 CACNA1F NG_009095.2: g.(16929_16947)_(21383_21401)del deletion Pathogenic GRCh38 Chromosome X, 49216966: 49221438
6 CACNA1F NM_005183.3(CACNA1F): c.3472-1_3475delGCGTCinsTGG indel Pathogenic rs863223294 GRCh38 Chromosome X, 49215241: 49215245
7 CACNA1F NM_005183.3(CACNA1F): c.3472-1_3475delGCGTCinsTGG indel Pathogenic rs863223294 GRCh37 Chromosome X, 49071701: 49071705
8 CACNA1F NM_005183.3(CACNA1F): c.3070-2A> G single nucleotide variant Likely pathogenic rs1057516199 GRCh38 Chromosome X, 49217809: 49217809
9 CACNA1F NM_005183.3(CACNA1F): c.3070-2A> G single nucleotide variant Likely pathogenic rs1057516199 GRCh37 Chromosome X, 49074268: 49074268
10 CACNA1F NM_005183.3(CACNA1F): c.1966A> T (p.Ile656Phe) single nucleotide variant Uncertain significance rs1344295491 GRCh37 Chromosome X, 49079540: 49079540
11 CACNA1F NM_005183.3(CACNA1F): c.1966A> T (p.Ile656Phe) single nucleotide variant Uncertain significance rs1344295491 GRCh38 Chromosome X, 49223081: 49223081
12 CACNA1F NM_001256789.2(CACNA1F): c.1108G> A (p.Val370Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49084508: 49084508
13 CACNA1F NM_001256789.2(CACNA1F): c.1108G> A (p.Val370Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49228046: 49228046

Expression for Cone-Rod Dystrophy, X-Linked, 3

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

Pathways for Cone-Rod Dystrophy, X-Linked, 3

GO Terms for Cone-Rod Dystrophy, X-Linked, 3

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

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

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 CACNA1F RPGR
2 visual perception GO:0007601 8.8 CABP4 CACNA1F RPGR

Sources for Cone-Rod Dystrophy, X-Linked, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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