CORD9
MCID: CNR017
MIFTS: 36

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 57 12 75 29 13 6 15 73
Cord9 57 12 75
Dystrophy, Cone-Rod, Type 9 40
Retinitis Pigmentosa 9 73

Characteristics:

HPO:

32
cone-rod dystrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612775
Disease Ontology 12 DOID:0111020
MedGen 42 C1423873
MeSH 44 D058499

Summaries for Cone-Rod Dystrophy 9

UniProtKB/Swiss-Prot : 75 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. 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 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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 3 30.3 ABCA4 ADAM9
2 cone-rod dystrophy 2 29.6 ABCA4 CRX GNAT2 GUCY2D RPGRIP1
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 achromatopsia 10.1 CNGA3 CNGB3 GNAT2
8 retinitis pigmentosa 26 10.0 CNGA3 CNGB3
9 oligocone trichromacy 10.0 CNGA3 CNGB3 GNAT2
10 achromatopsia 4 10.0 CNGA3 CNGB3 GNAT2
11 tritanopia 10.0 CNGB3 GUCY2D
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 retinitis pigmentosa 33 10.0 CNGA3 PLIN2
16 enhanced s-cone syndrome 10.0 CNGA3 CRX
17 hereditary choroidal atrophy 10.0 GUCY2D PLIN2
18 partial central choroid dystrophy 10.0 GUCY2D PLIN2
19 retinitis pigmentosa 3 10.0 ABCA4 RPGRIP1
20 retinoschisis 1, x-linked, juvenile 9.9 CNGB3 CRX
21 leber congenital amaurosis 9 9.9 CRX GUCY2D RPGRIP1
22 red-green color blindness 9.9 ABCA4 CNGB3
23 macular dystrophy, concentric annular 9.9 ABCA4 CRX
24 stargardt disease 9.9 ABCA4 CNGB3 GNAT2
25 congenital stationary night blindness 9.8 ABCA4 CNGB3 RDH5
26 leber congenital amaurosis 4 9.8 CRX GUCY2D
27 yemenite deaf-blind hypopigmentation syndrome 9.8 ABCA4 GUCY2D
28 cone-rod dystrophy 6 9.8 CNGA3 CNGB3 GNAT2 GUCY2D RDH5
29 stargardt disease 1 9.7 ABCA4 CNGB3 CRX GNAT2
30 prolonged electroretinal response suppression 9.7 ABCA4 CRX GUCY2D RDH5
31 retinal degeneration 9.6 ABCA4 CRX GUCY2D RPGRIP1
32 achromatopsia 3 9.6 CNGA3 CNGB3 CRX GNAT2 GUCY2D RPGRIP1
33 retinal disease 9.5 ABCA4 CNGB3 CRX GUCY2D RPGRIP1
34 leber congenital amaurosis 9.3 ABCA4 CNGA3 CNGB3 CRX GUCY2D RPGRIP1
35 fundus dystrophy 9.1 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
36 retinitis pigmentosa 9.1 ABCA4 ADAM9 CNGA3 CRX GUCY2D PLIN2
37 cone-rod dystrophy 8 9.0 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

Clinical features from OMIM:

612775

Human phenotypes related to Cone-Rod Dystrophy 9:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 ABCA4 ASIC3 CNGA3 CNGB3 CRX GNAT2
2 vision/eye MP:0005391 9.36 ABCA4 ADAM9 ASIC3 CNGA3 CNGB3 CRX

Drugs & Therapeutics for Cone-Rod Dystrophy 9

Search Clinical Trials , 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 29 ADAM9

Anatomical Context for Cone-Rod Dystrophy 9

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

41
Eye

Publications for Cone-Rod Dystrophy 9

Articles related to Cone-Rod Dystrophy 9:

# Title Authors Year
1
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. ( 20806078 )
2010

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 GRCh37 Chromosome 8, 38880852: 38880852
12 ADAM9 NM_003816.2(ADAM9): c.914+8T> A single nucleotide variant Conflicting interpretations of pathogenicity rs377447230 GRCh38 Chromosome 8, 39023333: 39023333

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 9.56 ABCA4 CNGA3 CNGB3 CRX GNAT2 GUCY2D
2 cation transport GO:0006812 9.33 ASIC3 CNGA3 CNGB3
3 cation transmembrane transport GO:0098655 9.26 ASIC3 CNGB3
4 visual perception GO:0007601 9.23 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 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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