CORDX3
MCID: CNR038
MIFTS: 35

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

Categories: Eye diseases, Genetic diseases, Neuronal 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 57 70
X-Linked Cone-Rod Dystrophy 3 12 29 6 15
Cordx3 57 12 20 72
Dystrophy, Cone-Rod, X-Linked, Type 3 39
Cone-Rod Dystrophy, X-Linked 3 72
Cone-Rod Dystrophy X-Linked 3 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

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


HPO:

31
cone-rod dystrophy, x-linked, 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111007
OMIM® 57 300476
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
MedGen 41 C1845407
UMLS 70 C1845407

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

UniProtKB/Swiss-Prot : 72 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 x-linked cone-rod dystrophy 3, is related to astigmatism and x-linked congenital stationary night blindness. An important gene associated with Cone-Rod Dystrophy, X-Linked, 3 is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F), and among its related pathways/superpathways are Cardiac muscle contraction and Phase 0 - rapid depolarisation. 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® : 57 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) (Updated 05-Apr-2021)

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:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 astigmatism 29.9 CRYAA CACNA1F
2 x-linked congenital stationary night blindness 29.9 NYX CACNA1F
3 cone-rod dystrophy, x-linked, 2 29.6 SERPINA3 RPGR CACNA1F
4 cone-rod dystrophy, x-linked, 1 29.6 SERPINA3 RPGR CACNA1F
5 night blindness, congenital stationary, type 2a 29.6 NYX CRYAA CACNA1F
6 night blindness 29.1 RPGR NYX CACNA1F CABP4
7 pathologic nystagmus 28.8 RPGR NYX CRYAA CACNA1F CABP4
8 retinal disease 28.8 RPGR NYX CRYAA CACNA1F CABP4
9 congenital stationary night blindness 28.1 RPGR NYX CRYAA CACNA2D4 CACNA1F CABP4
10 cone-rod dystrophy 2 28.1 RPGR NYX CRYAA CACNA2D4 CACNA1F CABP4
11 amblyopia 10.1 CRYAA CACNA1F
12 steroid-induced glaucoma 10.1 SERPINA3 CRYAA
13 phacogenic glaucoma 10.1 SERPINA3 CRYAA
14 iris disease 10.1 SERPINA3 CRYAA
15 macular dystrophy, dominant cystoid 10.1 RPGR CRYAA
16 early-onset parkinson's disease 10.1 SERPINA3 CRYAA
17 degeneration of macula and posterior pole 10.1 SERPINA3 CRYAA
18 sphingolipidosis 10.1 SERPINA3 CRYAA
19 leber congenital amaurosis 2 10.1 RPGR CRYAA
20 amino acid metabolic disorder 10.1 SERPINA3 CRYAA
21 enophthalmos 10.0 CRYAA CABP4
22 cranial nerve disease 10.0 SERPINA3 CRYAA
23 color blindness 10.0 RPGR CRYAA
24 uveal disease 10.0 SERPINA3 CRYAA
25 retinitis pigmentosa 4 10.0 SERPINA3 RPGR
26 oguchi disease 10.0 NYX CACNA1F
27 lens disease 10.0 SERPINA3 CRYAA
28 achromatopsia 3 10.0 NYX CACNA1F
29 night blindness, congenital stationary, type 1e 10.0 NYX CACNA1F
30 ocular albinism 10.0 CACNA1F CABP4
31 corneal disease 10.0 SERPINA3 CRYAA
32 chromosomal duplication syndrome 10.0 SERPINA3 CRYAA
33 cone-rod dystrophy 13 10.0 RPGR NYX
34 cerebral degeneration 10.0 SERPINA3 CRYAA
35 x-linked recessive disease 9.9 SERPINA3 CRYAA
36 glaucoma, primary open angle 9.9 SERPINA3 CRYAA
37 cone-rod dystrophy 3 9.9 CRYAA CACNA1F CABP4
38 yemenite deaf-blind hypopigmentation syndrome 9.9
39 stickler syndrome 9.9 NYX CRYAA
40 oguchi disease 2 9.8 CACNA2D4 CABP4
41 autoimmune disease of central nervous system 9.8 SERPINA3 CRYAA
42 eye degenerative disease 9.8 SERPINA3 RPGR CRYAA
43 sensory system disease 9.8 SERPINA3 RPGR CRYAA
44 fundus albipunctatus 9.8 RPGR CACNA1F CABP4
45 night blindness, congenital stationary, type 1c 9.8 NYX CACNA1F CABP4
46 night blindness, congenital stationary, type 1a 9.8 NYX CACNA1F CABP4
47 macular degeneration, age-related, 1 9.8 SERPINA3 RPGR CRYAA
48 night blindness, congenital stationary, type 1b 9.8 NYX CACNA1F CABP4
49 aland island eye disease 9.8 NYX CACNA1F CABP4
50 autoimmune disease of the nervous system 9.7 SERPINA3 CRYAA

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 photophobia 31 occasional (7.5%) HP:0000613
3 retinal detachment 31 occasional (7.5%) HP:0000541
4 astigmatism 31 occasional (7.5%) HP:0000483
5 optic disc pallor 31 occasional (7.5%) HP:0000543
6 absent foveal reflex 31 occasional (7.5%) HP:0030825
7 myopia 31 HP:0000545
8 reduced visual acuity 31 HP:0007663
9 color vision defect 31 HP:0000551
10 cone/cone-rod dystrophy 31 HP:0000548
11 abnormality of macular pigmentation 31 HP:0008002
12 central scotoma 31 HP:0000603
13 abnormal light- and dark-adapted electroretinogram 31 HP:0008323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
myopia
nystagmus (in some patients)
decreased visual acuity
retinal detachment (rare)
photophobia (rare)
more

Clinical features from OMIM®:

300476 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CABP4 CACNA1F CACNA2D4 NYX 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 X-Linked Cone-Rod Dystrophy 3 29 CACNA1F

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

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

40
Eye

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

Articles related to Cone-Rod Dystrophy, X-Linked, 3:

# Title Authors PMID Year
1
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 6 57 61
24124559 2013
2
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 6 57 61
16505158 2006
3
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 6 57
23776498 2013
4
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 6 57
11453854 2001
5
A new genetic locus for X linked progressive cone-rod dystrophy. 57
12807962 2003
6
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis. 57
8123616 1994
7
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. 57
8288262 1993
8
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. 61
24163243 2014
9
The Ca(v)1.4 calcium channel: more than meets the eye. 61
19151588 2007

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1F NM_001256789.3(CACNA1F):c.3439-1_3442delinsTGG Indel Pathogenic 11620 rs863223294 GRCh37: X:49071701-49071705
GRCh38: X:49215241-49215245
2 CACNA1F NM_001256789.3(CACNA1F):c.2509G>A (p.Gly837Ser) SNV Pathogenic 217443 rs863225090 GRCh37: X:49076127-49076127
GRCh38: X:49219668-49219668
3 CACNA1F NG_009095.2:g.(16929_16947)_(21383_21401)del Deletion Pathogenic 217444 GRCh37:
GRCh38: X:49216966-49221438
4 CACNA1F NM_001256789.3(CACNA1F):c.3037-2A>G SNV Likely pathogenic 369958 rs1057516199 GRCh37: X:49074268-49074268
GRCh38: X:49217809-49217809
5 CACNA1F NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) SNV Uncertain significance 430654 rs1344295491 GRCh37: X:49079540-49079540
GRCh38: X:49223081-49223081
6 CACNA1F NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) SNV Uncertain significance 587564 rs782458308 GRCh37: X:49084508-49084508
GRCh38: 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

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

# Super pathways Score Top Affiliating Genes
1 11.1 CACNA2D4 CACNA1F
2
Show member pathways
10.83 CACNA2D4 CACNA1F
3 10.39 CACNA2D4 CACNA1F

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 8.96 RPGR CACNA1F
2 voltage-gated calcium channel complex GO:0005891 8.62 CACNA2D4 CACNA1F

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

# Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.26 CACNA2D4 CACNA1F
2 response to stimulus GO:0050896 9.26 RPGR NYX CRYAA CACNA1F
3 detection of light stimulus involved in visual perception GO:0050908 9.16 CACNA2D4 CACNA1F
4 visual perception GO:0007601 9.02 RPGR NYX CRYAA CACNA1F CABP4

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.96 CACNA2D4 CACNA1F
2 voltage-gated calcium channel activity GO:0005245 8.62 CACNA2D4 CACNA1F

Sources for Cone-Rod Dystrophy, X-Linked, 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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