MCID: CNR017
MIFTS: 17

Cone-Rod Dystrophy 9

Categories: Genetic diseases, Eye 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 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 2 and cone-rod dystrophy 3. An important gene associated with Cone-Rod Dystrophy 9 is ADAM9 (ADAM Metallopeptidase Domain 9). 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 related to Cone-Rod Dystrophy 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.1
2 cone-rod dystrophy 3 10.1

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

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

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
Content
Loading form....