CORD9
MCID: CNR017
MIFTS: 37

Cone-Rod Dystrophy 9 (CORD9)

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

Aliases & Classifications for Cone-Rod Dystrophy 9

MalaCards integrated aliases for Cone-Rod Dystrophy 9:

Name: Cone-Rod Dystrophy 9 58 12 76 30 13 6 15 74
Cord9 58 12 76
Dystrophy, Cone-Rod, Type 9 41
Retinitis Pigmentosa 9 74

Characteristics:

HPO:

33
cone-rod dystrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111020
OMIM 58 612775
MeSH 45 D058499
MedGen 43 C1423873

Summaries for Cone-Rod Dystrophy 9

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 9: 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 9, also known as cord9, is related to cone-rod dystrophy 3 and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 9 is ADAM9 (ADAM Metallopeptidase Domain 9), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are visual impairment and cone/cone-rod dystrophy

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.

Description from OMIM: 612775

Related Diseases for Cone-Rod Dystrophy 9

Diseases in the Cone-Rod Dystrophy 6 family:

Cone-Rod Dystrophy 2 Cone-Rod Dystrophy 1
Cone-Rod Dystrophy 5 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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 3 30.3 ABCA4 ADAM9
2 cone-rod dystrophy 2 29.5 ABCA4 CRX GNAT2 GUCY2D
3 achromatopsia 2 10.2 CNGA3 CNGB3
4 retinitis pigmentosa 44 10.2 CNGA3 CNGB3
5 cone-rod dystrophy 5 10.1 CNGB3 GUCY2D
6 blue cone monochromacy 10.1 CNGA3 CNGB3
7 tritanopia 10.1 CNGB3 GUCY2D
8 achromatopsia 10.1 CNGA3 CNGB3 GNAT2
9 retinitis pigmentosa 26 10.1 CNGA3 CNGB3
10 oligocone trichromacy 10.1 CNGA3 CNGB3 GNAT2
11 achromatopsia 4 10.1 CNGA3 CNGB3 GNAT2
12 jalili syndrome 10.1 CNGA3 CNGB3 GNAT2
13 color blindness 10.0 CNGA3 CNGB3 GNAT2
14 pathologic nystagmus 10.0 CNGA3 CNGB3 GNAT2
15 leber congenital amaurosis 9 10.0 CRX GUCY2D
16 retinitis pigmentosa 33 10.0 CNGA3 PLIN2
17 hereditary choroidal atrophy 10.0 GUCY2D PLIN2
18 enhanced s-cone syndrome 10.0 CNGA3 CRX
19 partial central choroid dystrophy 9.9 GUCY2D PLIN2
20 retinoschisis 1, x-linked, juvenile 9.9 CNGB3 CRX
21 red-green color blindness 9.9 ABCA4 CNGB3
22 macular dystrophy, concentric annular 9.9 ABCA4 CRX
23 stargardt disease 9.8 ABCA4 CNGB3 GNAT2
24 congenital stationary night blindness 9.8 ABCA4 CNGB3 RDH5
25 leber congenital amaurosis 4 9.7 CRX GUCY2D
26 yemenite deaf-blind hypopigmentation syndrome 9.7 ABCA4 GUCY2D
27 cone-rod dystrophy 6 9.6 CNGA3 CNGB3 GNAT2 GUCY2D RDH5
28 retinal degeneration 9.6 ABCA4 CRX GUCY2D
29 stargardt disease 1 9.5 ABCA4 CNGB3 CRX GNAT2
30 achromatopsia 3 9.5 CNGA3 CNGB3 CRX GNAT2 GUCY2D
31 prolonged electroretinal response suppression 9.5 ABCA4 CRX GUCY2D RDH5
32 retinal disease 9.4 ABCA4 CNGB3 CRX GUCY2D
33 leber congenital amaurosis 9.2 ABCA4 CNGA3 CNGB3 CRX GUCY2D
34 fundus dystrophy 8.9 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
35 retinitis pigmentosa 8.7 ABCA4 ADAM9 CNGA3 CRX GUCY2D PLIN2
36 cone-rod dystrophy 8 8.7 ABCA4 ASIC3 CNGA3 CNGB3 CRX GNAT2

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 9:



Diseases related to Cone-Rod Dystrophy 9

Symptoms & Phenotypes for Cone-Rod Dystrophy 9

Human phenotypes related to Cone-Rod Dystrophy 9:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 cone/cone-rod dystrophy 33 HP:0000548

Clinical features from OMIM:

612775

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 9:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ABCA4 ADAM9 ASIC3 CNGA3 CNGB3 CRX

Drugs & Therapeutics for Cone-Rod Dystrophy 9

Drugs for Cone-Rod Dystrophy 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Not Applicable 329-65-7 838
2
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
3 Epinephryl borate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Reflexology on Labor Completed NCT03877302 Not Applicable

Search NIH Clinical Center for Cone-Rod Dystrophy 9

Genetic Tests for Cone-Rod Dystrophy 9

Genetic tests related to Cone-Rod Dystrophy 9:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 9 30 ADAM9

Anatomical Context for Cone-Rod Dystrophy 9

MalaCards organs/tissues related to Cone-Rod Dystrophy 9:

42
Eye

Publications for Cone-Rod Dystrophy 9

Articles related to Cone-Rod Dystrophy 9:

# Title Authors Year
1
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. ( 25091951 )
2014
2
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. ( 20806078 )
2010
3
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. ( 19409519 )
2009
4
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. ( 11581183 )
2001

Variations for Cone-Rod Dystrophy 9

ClinVar genetic disease variations for Cone-Rod Dystrophy 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAM9 NM_003816.2(ADAM9): c.1130+1G> A single nucleotide variant Pathogenic rs786205085 GRCh38 Chromosome 8, 39026811: 39026811
2 ADAM9 NM_003816.2(ADAM9): c.1130+1G> A single nucleotide variant Pathogenic rs786205085 GRCh37 Chromosome 8, 38884330: 38884330
3 ADAM9 NM_003816.2(ADAM9): c.766C> T (p.Arg256Ter) single nucleotide variant Pathogenic rs137853040 GRCh37 Chromosome 8, 38880696: 38880696
4 ADAM9 NM_003816.2(ADAM9): c.766C> T (p.Arg256Ter) single nucleotide variant Pathogenic rs137853040 GRCh38 Chromosome 8, 39023177: 39023177
5 ADAM9 NM_003816.2(ADAM9): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs137853041 GRCh37 Chromosome 8, 38874817: 38874817
6 ADAM9 NM_003816.2(ADAM9): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs137853041 GRCh38 Chromosome 8, 39017298: 39017298
7 ADAM9 NM_003816.2(ADAM9): c.411-8A> G single nucleotide variant Pathogenic rs786205086 GRCh37 Chromosome 8, 38874730: 38874730
8 ADAM9 NM_003816.2(ADAM9): c.411-8A> G single nucleotide variant Pathogenic rs786205086 GRCh38 Chromosome 8, 39017211: 39017211
9 ADAM9 NM_003816.2(ADAM9): c.1396-2A> G single nucleotide variant Pathogenic rs786205151 GRCh37 Chromosome 8, 38913094: 38913094
10 ADAM9 NM_003816.2(ADAM9): c.1396-2A> G single nucleotide variant Pathogenic rs786205151 GRCh38 Chromosome 8, 39055575: 39055575
11 ADAM9 NM_003816.2(ADAM9): c.914+8T> A single nucleotide variant Conflicting interpretations of pathogenicity rs377447230 GRCh38 Chromosome 8, 39023333: 39023333
12 ADAM9 NM_003816.2(ADAM9): c.914+8T> A single nucleotide variant Conflicting interpretations of pathogenicity rs377447230 GRCh37 Chromosome 8, 38880852: 38880852

Expression for Cone-Rod Dystrophy 9

Search GEO for disease gene expression data for Cone-Rod Dystrophy 9.

Pathways for Cone-Rod Dystrophy 9

GO Terms for Cone-Rod Dystrophy 9

Cellular components related to Cone-Rod Dystrophy 9 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 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
2 cation transport GO:0006812 9.33 ASIC3 CNGA3 CNGB3
3 retinoid metabolic process GO:0001523 9.32 ABCA4 RDH5
4 cation transmembrane transport GO:0098655 9.26 ASIC3 CNGB3
5 visual perception GO:0007601 9.17 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D

Molecular functions related to Cone-Rod Dystrophy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.26 DUSP26 DUSP3
2 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
4 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Cone-Rod Dystrophy 9

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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