CORD8
MCID: CNR023
MIFTS: 38

Cone-Rod Dystrophy 8 (CORD8)

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

Aliases & Classifications for Cone-Rod Dystrophy 8

MalaCards integrated aliases for Cone-Rod Dystrophy 8:

Name: Cone-Rod Dystrophy 8 57 12 29 13 15 73
Cord8 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone-rod dystrophy 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 8

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.

MalaCards based summary : Cone-Rod Dystrophy 8, also known as cord8, is related to cone-rod dystrophy 2 and perrault syndrome 1. An important gene associated with Cone-Rod Dystrophy 8 is CORD8 (Cone Rod Dystrophy 8), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, and related phenotypes are abnormality of retinal pigmentation and blindness

Description from OMIM: 605549

Related Diseases for Cone-Rod Dystrophy 8

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 31.3 ABCA4 CORD8 CRX GNAT2 GUCY2D RPGRIP1
2 perrault syndrome 1 11.1
3 achromatopsia 2 10.1 CNGA3 CNGB3
4 retinitis pigmentosa 44 10.1 CNGA3 CNGB3
5 cone-rod dystrophy 5 10.1 CNGB3 GUCY2D
6 blue cone monochromacy 10.1 CNGA3 CNGB3
7 tritanopia 10.0 CNGB3 GUCY2D
8 achromatopsia 10.0 CNGA3 CNGB3 GNAT2
9 retinitis pigmentosa 26 10.0 CNGA3 CNGB3
10 oligocone trichromacy 10.0 CNGA3 CNGB3 GNAT2
11 achromatopsia 4 10.0 CNGA3 CNGB3 GNAT2
12 jalili syndrome 10.0 CNGA3 CNGB3 GNAT2
13 color blindness 10.0 CNGA3 CNGB3 GNAT2
14 pathologic nystagmus 10.0 CNGA3 CNGB3 GNAT2
15 enhanced s-cone syndrome 10.0 CNGA3 CRX
16 retinoschisis 1, x-linked, juvenile 9.9 CNGB3 CRX
17 leber congenital amaurosis 9 9.9 CRX GUCY2D RPGRIP1
18 retinitis pigmentosa 3 9.9 ABCA4 RPGRIP1
19 red-green color blindness 9.9 ABCA4 CNGB3
20 macular dystrophy, concentric annular 9.9 ABCA4 CRX
21 stargardt disease 9.9 ABCA4 CNGB3 GNAT2
22 congenital stationary night blindness 9.8 ABCA4 CNGB3 RDH5
23 leber congenital amaurosis 4 9.8 CRX GUCY2D
24 yemenite deaf-blind hypopigmentation syndrome 9.8 ABCA4 GUCY2D
25 cone-rod dystrophy 6 9.8 CNGA3 CNGB3 GNAT2 GUCY2D RDH5
26 stargardt disease 1 9.7 ABCA4 CNGB3 CRX GNAT2
27 prolonged electroretinal response suppression 9.6 ABCA4 CRX GUCY2D RDH5
28 retinal degeneration 9.6 ABCA4 CRX GUCY2D RPGRIP1
29 achromatopsia 3 9.5 CNGA3 CNGB3 CRX GNAT2 GUCY2D RPGRIP1
30 retinal disease 9.5 ABCA4 CNGB3 CRX GUCY2D RPGRIP1
31 retinitis pigmentosa 9.3 ABCA4 CNGA3 CRX GUCY2D RDH5 RPGRIP1
32 leber congenital amaurosis 9.3 ABCA4 CNGA3 CNGB3 CRX GUCY2D RPGRIP1
33 fundus dystrophy 9.1 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
34 cone-rod dystrophy 9 9.0 ABCA4 ASIC3 CNGA3 CNGB3 CRX GNAT2

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 8:



Diseases related to Cone-Rod Dystrophy 8

Symptoms & Phenotypes for Cone-Rod Dystrophy 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
initial loss of central visual acuity and color vision
photophobia and epiphora in day light
eventual loss of peripheral vision and night blindness
marked macular degeneration
mild retinal arteriolar constriction
more
Laboratory Abnormalities:
electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished


Clinical features from OMIM:

605549

Human phenotypes related to Cone-Rod Dystrophy 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 32 HP:0007703
2 blindness 32 HP:0000618
3 photophobia 32 HP:0000613
4 pallor 32 HP:0000980
5 nyctalopia 32 occasional (7.5%) HP:0000662
6 macular degeneration 32 HP:0000608
7 cone/cone-rod dystrophy 32 HP:0000548
8 abnormality of the optic nerve 32 HP:0000587
9 peripheral visual field loss 32 occasional (7.5%) HP:0007994
10 epiphora 32 HP:0009926
11 retinal arteriolar constriction 32 HP:0008043

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 8 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.47 KCNJ10
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.47 CNGB3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.47 CRX
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.47 CNGB3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.47 CNGB3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.47 CRX
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.47 CNGB3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.47 KCNJ10
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.47 CNGB3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.47 KCNJ10
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.47 CRX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.47 CNGB3 CRX KCNJ10

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 ABCA4 ASIC3 CNGA3 CNGB3 CRX GNAT2
2 vision/eye MP:0005391 9.32 ABCA4 ASIC3 CNGA3 CNGB3 CRX GNAT2

Drugs & Therapeutics for Cone-Rod Dystrophy 8

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 8

Genetic Tests for Cone-Rod Dystrophy 8

Genetic tests related to Cone-Rod Dystrophy 8:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 8 29

Anatomical Context for Cone-Rod Dystrophy 8

MalaCards organs/tissues related to Cone-Rod Dystrophy 8:

41
Eye

Publications for Cone-Rod Dystrophy 8

Articles related to Cone-Rod Dystrophy 8:

# Title Authors Year
1
Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes. ( 16897189 )
2006

Variations for Cone-Rod Dystrophy 8

Expression for Cone-Rod Dystrophy 8

Search GEO for disease gene expression data for Cone-Rod Dystrophy 8.

Pathways for Cone-Rod Dystrophy 8

GO Terms for Cone-Rod Dystrophy 8

Cellular components related to Cone-Rod Dystrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.16 ABCA4 GUCY2D
2 photoreceptor outer segment GO:0001750 9.13 ABCA4 CNGB3 GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

Biological processes related to Cone-Rod Dystrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.73 ASIC3 CNGA3 CNGB3 CRABP2 GNAT2 GUCY2D
2 ion transport GO:0006811 9.67 ASIC3 CNGA3 CNGB3 KCNJ10
3 ion transmembrane transport GO:0034220 9.58 ASIC3 CNGA3 KCNJ10
4 response to stimulus GO:0050896 9.56 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
5 retinoid metabolic process GO:0001523 9.43 ABCA4 RDH5
6 cation transport GO:0006812 9.33 ASIC3 CNGA3 CNGB3
7 cation transmembrane transport GO:0098655 9.32 ASIC3 CNGB3
8 visual perception GO:0007601 9.28 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D

Molecular functions related to Cone-Rod Dystrophy 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Cone-Rod Dystrophy 8

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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