CORDX2
MCID: CNR039
MIFTS: 28

Cone-Rod Dystrophy, X-Linked, 2 (CORDX2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy, X-Linked, 2

MalaCards integrated aliases for Cone-Rod Dystrophy, X-Linked, 2:

Name: Cone-Rod Dystrophy, X-Linked, 2 57 70
X-Linked Cone-Rod Dystrophy 2 12 29 15
Cordx2 57 12 20
Cod2 57 12 20
Cone Dystrophy, Progressive X-Linked, 2 57 13
Cone Dystrophy 2, X-Linked; Cod2 57
Cone-Rod Dystrophy X-Linked 2 20
Cone Dystrophy 2, X-Linked 57
X-Linked Cone Dystrophy 2 12
Cone Dystrophy X-Linked 2 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
cone-rod dystrophy, x-linked, 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111006
OMIM® 57 300085
OMIM Phenotypic Series 57 PS120970
MedGen 41 C1848139
SNOMED-CT via HPO 68 263934009
UMLS 70 C1848139

Summaries for Cone-Rod Dystrophy, X-Linked, 2

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region Xq27.

MalaCards based summary : Cone-Rod Dystrophy, X-Linked, 2, also known as x-linked cone-rod dystrophy 2, is related to cone dystrophy and spinal muscular atrophy, distal, autosomal recessive, 3. An important gene associated with Cone-Rod Dystrophy, X-Linked, 2 is COD2 (Cone Dystrophy 2 (X-Linked)), and among its related pathways/superpathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include eye, and related phenotype is cone dystrophy.

More information from OMIM: 300085 PS120970

Related Diseases for Cone-Rod Dystrophy, X-Linked, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 30.9 RPGR OPN1LW COD2 CACNA1F
2 spinal muscular atrophy, distal, autosomal recessive, 3 10.1 COG8 COG4
3 retinitis pigmentosa 4 10.0 SERPINA3 RPGR
4 red-green color blindness 9.9 RPGR OPN1LW
5 color blindness 9.9 RPGR OPN1LW
6 retinoschisis 1, x-linked, juvenile 9.9 RPGR CACNA1F
7 congenital disorder of glycosylation, type iih 9.9 COG8 COG1
8 cone-rod dystrophy, x-linked, 3 9.8 SERPINA3 RPGR CACNA1F
9 cone-rod dystrophy 6 9.8 RPGR CACNA1F
10 fundus albipunctatus 9.7 RPGR CACNA1F
11 congenital disorder of glycosylation, type iil 9.7 COG8 COG4 COG1
12 saul-wilson syndrome 9.6 COG5 COG4 COG1
13 pathologic nystagmus 9.6 RPGR OPN1LW CACNA1F
14 achromatopsia 9.6 RPGR OPN1LW CACNA1F
15 retinal disease 9.6 RPGR OPN1LW CACNA1F
16 congenital stationary night blindness 9.5 RPGR OPN1LW CACNA1F
17 myopia 9.5 RPGR OPN1LW CACNA1F
18 leber plus disease 9.5 SERPINA3 RPGR CACNA1F
19 congenital disorder of glycosylation, type iii 9.4 COG8 COG5 COG4 COG1
20 immunodeficiency 47 9.4 COG8 COG5 COG4 COG1
21 congenital disorder of glycosylation, type iij 9.3 COG8 COG5 COG4 COG3 COG1
22 congenital disorder of glycosylation, type in 9.2 COG8 COG5 COG4 COG3 COG1
23 cone-rod dystrophy, x-linked, 1 8.2 SERPINA3 RPGR OPN1LW COG8 COG5 COG4

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy, X-Linked, 2:



Diseases related to Cone-Rod Dystrophy, X-Linked, 2

Symptoms & Phenotypes for Cone-Rod Dystrophy, X-Linked, 2

Human phenotypes related to Cone-Rod Dystrophy, X-Linked, 2:

31
# Description HPO Frequency HPO Source Accession
1 cone dystrophy 31 HP:0008020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
progressive cone dystrophy

Clinical features from OMIM®:

300085 (Updated 20-May-2021)

Drugs & Therapeutics for Cone-Rod Dystrophy, X-Linked, 2

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy, X-Linked, 2

Genetic Tests for Cone-Rod Dystrophy, X-Linked, 2

Genetic tests related to Cone-Rod Dystrophy, X-Linked, 2:

# Genetic test Affiliating Genes
1 X-Linked Cone-Rod Dystrophy 2 29

Anatomical Context for Cone-Rod Dystrophy, X-Linked, 2

MalaCards organs/tissues related to Cone-Rod Dystrophy, X-Linked, 2:

40
Eye

Publications for Cone-Rod Dystrophy, X-Linked, 2

Articles related to Cone-Rod Dystrophy, X-Linked, 2:

# Title Authors PMID Year
1
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. 57
9199568 1997
2
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 61
16505158 2006

Variations for Cone-Rod Dystrophy, X-Linked, 2

Expression for Cone-Rod Dystrophy, X-Linked, 2

Search GEO for disease gene expression data for Cone-Rod Dystrophy, X-Linked, 2.

Pathways for Cone-Rod Dystrophy, X-Linked, 2

GO Terms for Cone-Rod Dystrophy, X-Linked, 2

Cellular components related to Cone-Rod Dystrophy, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.8 RPGR COG8 COG5 COG4 COG3 COG1
2 Golgi membrane GO:0000139 9.55 COG8 COG5 COG4 COG3 COG1
3 photoreceptor outer segment GO:0001750 9.43 RPGR OPN1LW CACNA1F
4 trans-Golgi network membrane GO:0032588 9.35 COG8 COG5 COG4 COG3 COG1
5 Golgi transport complex GO:0017119 9.02 COG8 COG5 COG4 COG3 COG1

Biological processes related to Cone-Rod Dystrophy, X-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.55 COG8 COG5 COG4 COG3 COG1
2 visual perception GO:0007601 9.5 RPGR OPN1LW CACNA1F
3 Golgi organization GO:0007030 9.43 COG4 COG3 COG1
4 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.37 COG4 COG3
5 ER to Golgi vesicle-mediated transport GO:0006888 9.35 COG8 COG5 COG4 COG3 COG1
6 intra-Golgi vesicle-mediated transport GO:0006891 8.92 COG8 COG5 COG3 COG1

Sources for Cone-Rod Dystrophy, X-Linked, 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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