COD2
MCID: CNR039
MIFTS: 30

Cone-Rod Dystrophy, X-Linked, 2 (COD2)

Categories: Eye diseases, Genetic 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 58 74
Cordx2 58 12 54
Cod2 58 12 54
X-Linked Cone-Rod Dystrophy 2 12 15
Cone-Rod Dystrophy X-Linked 2 54 30
Cone Dystrophy, Progressive X-Linked, 2 58
Cone Dystrophy 2, X-Linked; Cod2 58
Cone Dystrophy 2, X-Linked 58
Cone Dystrophy-2, X-Linked 13
X-Linked Cone Dystrophy 2 12
Cone Dystrophy X-Linked 2 54

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
cone-rod dystrophy, x-linked, 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111006
OMIM 58 300085
MedGen 43 C1848139
SNOMED-CT via HPO 70 263934009
UMLS 74 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 cordx2, is related to perrault syndrome 1 and congenital disorder of glycosylation, type iij. 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.

Description from OMIM: 300085

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

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:

33
# Description HPO Frequency HPO Source Accession
1 cone dystrophy 33 HP:0008020

Symptoms via clinical synopsis from OMIM:

58
Eyes:
progressive cone dystrophy

Clinical features from OMIM:

300085

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 Cone-Rod Dystrophy X-Linked 2 30

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

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

42
Eye

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

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 COG3 COG4 COG5 COG6 COG8 RPGR
2 Golgi membrane GO:0000139 9.65 COG3 COG4 COG5 COG6 COG8
3 trans-Golgi network membrane GO:0032588 9.35 COG3 COG4 COG5 COG6 COG8
4 photoreceptor outer segment GO:0001750 9.33 CACNA1F OPN1LW RPGR
5 Golgi transport complex GO:0017119 9.02 COG3 COG4 COG5 COG6 COG8

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 COG3 COG4 COG5 COG6 COG8
2 visual perception GO:0007601 9.43 CACNA1F OPN1LW RPGR
3 intra-Golgi vesicle-mediated transport GO:0006891 9.26 COG3 COG5 COG6 COG8
4 ER to Golgi vesicle-mediated transport GO:0006888 9.1 COG3 COG4 COG5 COG6 COG8 F9

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

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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