CORD8
MCID: CNR023
MIFTS: 31

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 13 15 70
Cord8 57 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cone-rod dystrophy 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111014
OMIM® 57 605549
OMIM Phenotypic Series 57 PS120970
MedGen 41 C1854180
UMLS 70 C1854180

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 yemenite deaf-blind hypopigmentation syndrome and macular degeneration, age-related, 1. An important gene associated with Cone-Rod Dystrophy 8 is CORD8 (Cone Rod Dystrophy 8), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye and retina, and related phenotypes are nyctalopia and peripheral visual field loss

More information from OMIM: 605549 PS120970

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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 29.7 GUCY2D AIPL1
2 macular degeneration, age-related, 1 28.8 GUCY2D GNAT2 CNGB3 CNGA3
3 cone-rod dystrophy 2 27.7 RAX2 LCA5 GUCY2D GNAT2 CORD8 CNGB3
4 fundus dystrophy 27.5 ZNF513 RAX2 LCA5 GUCY2D GNAT2 CNGB3
5 retinitis pigmentosa 29 10.1 ZNF513 LCA5
6 retinitis pigmentosa 32 10.1 ZNF513 LCA5
7 leber congenital amaurosis 11 10.1 LCA5 AIPL1
8 leber congenital amaurosis 14 10.1 LCA5 AIPL1
9 leber congenital amaurosis 5 10.1 LCA5 AIPL1
10 leber congenital amaurosis 15 10.1 LCA5 AIPL1
11 retinitis pigmentosa 28 10.1 ZNF513 LCA5
12 leber congenital amaurosis 13 10.0 LCA5 AIPL1
13 cone-rod dystrophy 17 10.0 GUCY2D AIPL1
14 pseudopapilledema 10.0 GUCY2D AIPL1
15 partial central choroid dystrophy 10.0 GUCY2D AIPL1
16 hereditary choroidal atrophy 10.0 GUCY2D AIPL1
17 pigmented paravenous chorioretinal atrophy 9.9 GUCY2D AIPL1
18 cone-rod dystrophy 16 9.9 RAX2 LCA5
19 cone-rod dystrophy 9 9.9 GUCY2D CNGB3
20 ifap syndrome 2 9.9
21 night blindness 9.9
22 inherited retinal disorder 9.9
23 occult macular dystrophy 9.9 GUCY2D CNGB3
24 cone-rod dystrophy 12 9.8 ZNF513 GUCY2D AIPL1
25 retinitis pigmentosa 44 9.8 CNGB3 CNGA3
26 leber congenital amaurosis 7 9.8 LCA5 GUCY2D AIPL1
27 leber congenital amaurosis 12 9.8 LCA5 GUCY2D AIPL1
28 leber congenital amaurosis 16 9.8 LCA5 GUCY2D AIPL1
29 leber congenital amaurosis 8 9.8 LCA5 GUCY2D AIPL1
30 leber congenital amaurosis 6 9.8 LCA5 GUCY2D AIPL1
31 leber congenital amaurosis 9 9.8 LCA5 GUCY2D AIPL1
32 leber congenital amaurosis 10 9.8 LCA5 GUCY2D AIPL1
33 leber congenital amaurosis 3 9.8 LCA5 GUCY2D AIPL1
34 leber congenital amaurosis 4 9.8 LCA5 GUCY2D AIPL1
35 choroidal dystrophy, central areolar, 1 9.8 GUCY2D AIPL1
36 senior-loken syndrome 1 9.8 LCA5 GUCY2D AIPL1
37 retinitis pigmentosa 26 9.7 CNGB3 CNGA3
38 oligocone trichromacy 9.7 GNAT2 CNGB3 CNGA3
39 achromatopsia 7 9.7 GNAT2 CNGB3 CNGA3
40 red-green color blindness 9.7 GNAT2 CNGB3 CNGA3
41 colorblindness, partial, protan series 9.7 GNAT2 CNGB3 CNGA3
42 achromatopsia 2 9.7 GNAT2 CNGB3 CNGA3
43 tritanopia 9.7 GNAT2 CNGB3 CNGA3
44 congenital nystagmus 9.7 CNGB3 CNGA3
45 achromatopsia 4 9.7 GNAT2 CNGB3 CNGA3
46 jalili syndrome 9.7 GNAT2 CNGB3 CNGA3
47 blue cone monochromacy 9.7 GNAT2 CNGB3 CNGA3
48 keratoconus 9.7 LCA5 GUCY2D AIPL1
49 prolonged electroretinal response suppression 9.7 GNAT2 CNGB3 CNGA3
50 enhanced s-cone syndrome 9.6 GNAT2 CNGB3 CNGA3

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

Human phenotypes related to Cone-Rod Dystrophy 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 peripheral visual field loss 31 occasional (7.5%) HP:0007994
3 abnormality of retinal pigmentation 31 HP:0007703
4 blindness 31 HP:0000618
5 photophobia 31 HP:0000613
6 pallor 31 HP:0000980
7 macular degeneration 31 HP:0000608
8 cone/cone-rod dystrophy 31 HP:0000548
9 abnormality of the optic nerve 31 HP:0000587
10 epiphora 31 HP:0009926
11 retinal arteriolar constriction 31 HP:0008043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 AIPL1 CNGA3 CNGB3 GNAT2 GUCY2D LCA5

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

Anatomical Context for Cone-Rod Dystrophy 8

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

40
Eye, Retina

Publications for Cone-Rod Dystrophy 8

Articles related to Cone-Rod Dystrophy 8:

# Title Authors PMID 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. 57 61
16897189 2006
2
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24. 57 61
11053266 2000
3
Mutation of ATF6 causes autosomal recessive achromatopsia. 57
26063662 2015
4
A study of candidate genes for day blindness in the standard wire haired dachshund. 61
18593457 2008
5
Identification of preferentially expressed mRNAs in retina and cochlea. 61
12489989 2002

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.45 GUCY2D GNAT2 CNGB3 CNGA3
2 10.9 GUCY2D GNAT2 CNGB3 CNGA3

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 inner segment GO:0001917 9.26 GNAT2 AIPL1
2 photoreceptor outer segment membrane GO:0042622 9.16 GUCY2D GNAT2
3 photoreceptor outer segment GO:0001750 9.13 GUCY2D GNAT2 CNGB3
4 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 ZNF513 RAX2 GUCY2D GNAT2 CNGB3 CNGA3
2 cation transport GO:0006812 9.26 CNGB3 CNGA3
3 visual perception GO:0007601 9.17 ZNF513 RAX2 GUCY2D GNAT2 CNGB3 CNGA3
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 GUCY2D AIPL1

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 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Cone-Rod Dystrophy 8

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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