MCID: CNR038
MIFTS: 20

Cone-Rod Dystrophy, X-Linked, 3

Categories: 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 57 73
Cordx3 57 12 53 75
Cone-Rod Dystrophy X-Linked 3 53 29 6
Dystrophy, Cone-Rod, X-Linked, Type 3 40
Cone-Rod Dystrophy, X-Linked 3 75
X-Linked Cone-Rod Dystrophy 3 12

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
cone-rod dystrophy, x-linked, 3:
Inheritance x-linked recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Cone-Rod Dystrophy, X-Linked, 3 is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). Related phenotypes are astigmatism and visual impairment

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)

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

Related Diseases for 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 10.0

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

300476

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 astigmatism 32 occasional (7.5%) HP:0000483
2 visual impairment 32 HP:0000505
3 retinal detachment 32 occasional (7.5%) HP:0000541
4 optic disc pallor 32 occasional (7.5%) HP:0000543
5 myopia 32 HP:0000545
6 cone/cone-rod dystrophy 32 HP:0000548
7 abnormality of color vision 32 HP:0000551
8 central scotoma 32 HP:0000603
9 photophobia 32 occasional (7.5%) HP:0000613
10 nystagmus 32 occasional (7.5%) HP:0000639
11 reduced visual acuity 32 HP:0007663
12 abnormality of macular pigmentation 32 HP:0008002
13 abnormal light- and dark-adapted electroretinogram 32 HP:0008323
14 absent foveal reflex 32 occasional (7.5%) HP:0030825

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 29 CACNA1F

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

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 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F NM_005183.3(CACNA1F): c.3472-1_3475delGCGTCinsTGG indel Pathogenic rs863223294 GRCh38 Chromosome X, 49215241: 49215245
2 CACNA1F NM_005183.3(CACNA1F): c.3472-1_3475delGCGTCinsTGG indel Pathogenic rs863223294 GRCh37 Chromosome X, 49071701: 49071705
3 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh37 Chromosome X, 49088171: 49088171
4 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh38 Chromosome X, 49231709: 49231709
5 CACNA1F NM_005183.3(CACNA1F): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs863225090 GRCh37 Chromosome X, 49076127: 49076127
6 CACNA1F NM_005183.3(CACNA1F): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs863225090 GRCh38 Chromosome X, 49219668: 49219668
7 CACNA1F NG_009095.2: g.(16929_16947)_(21383_21401)del deletion Pathogenic GRCh38 Chromosome X, 49216966: 49221438
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 GRCh37 Chromosome X, 49079540: 49079540
11 CACNA1F NM_005183.3(CACNA1F): c.1966A> T (p.Ile656Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49223081: 49223081

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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44 MeSH
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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