CORD9
MCID: CNR017
MIFTS: 34

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 56 12 73 29 13 6 15 71
Cord9 56 12 73
Dystrophy, Cone-Rod, Type 9 39
Retinitis Pigmentosa 9 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
progression of disease


HPO:

31
cone-rod dystrophy 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111020
OMIM 56 612775
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
MedGen 41 C1423873
UMLS 71 C1423873 C1867300

Summaries for Cone-Rod Dystrophy 9

UniProtKB/Swiss-Prot : 73 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). The drugs Beta carotene and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include bone and retina, 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.

More information from OMIM: 612775 PS120970

Related Diseases for Cone-Rod Dystrophy 9

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:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
reduced visual acuity
astigmatism
optic nerve atrophy
myopia, mild
loss of peripheral vision
more

Clinical features from OMIM:

612775

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
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
2 Carotenoids Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
2 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Completed NCT01256697

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 29 ADAM9

Anatomical Context for Cone-Rod Dystrophy 9

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

40
Bone, Retina

Publications for Cone-Rod Dystrophy 9

Articles related to Cone-Rod Dystrophy 9:

# Title Authors PMID Year
1
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. 6 56 61
11581183 2001
2
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 56 6
25091951 2014
3
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 6 56
19409519 2009
4
Cone rod dystrophies. 6
17270046 2007
5
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
6
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. 61
20806078 2010
7
A study of candidate genes for day blindness in the standard wire haired dachshund. 61
18593457 2008
8
Identification of preferentially expressed mRNAs in retina and cochlea. 61
12489989 2002

Variations for Cone-Rod Dystrophy 9

ClinVar genetic disease variations for Cone-Rod Dystrophy 9:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAM9 NM_003816.3(ADAM9):c.639T>G (p.Tyr213Ter)SNV Pathogenic 915360 8:38876404-38876404 8:39018885-39018885
2 ADAM9 NM_003816.3(ADAM9):c.1130+1G>ASNV Pathogenic 6876 rs786205085 8:38884330-38884330 8:39026811-39026811
3 ADAM9 NM_003816.3(ADAM9):c.766C>T (p.Arg256Ter)SNV Pathogenic 6877 rs137853040 8:38880696-38880696 8:39023177-39023177
4 ADAM9 NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter)SNV Pathogenic 6878 rs137853041 8:38874817-38874817 8:39017298-39017298
5 ADAM9 NM_003816.3(ADAM9):c.411-8A>GSNV Pathogenic 6879 rs786205086 8:38874730-38874730 8:39017211-39017211
6 ADAM9 NM_003816.3(ADAM9):c.1396-2A>GSNV Pathogenic 189795 rs786205151 8:38913094-38913094 8:39055575-39055575
7 ADAM9 NM_003816.3(ADAM9):c.2091C>T (p.Asp697=)SNV Conflicting interpretations of pathogenicity 729582 8:38947588-38947588 8:39090069-39090069
8 ADAM9 NM_003816.3(ADAM9):c.280G>A (p.Val94Ile)SNV Conflicting interpretations of pathogenicity 388305 rs146980702 8:38871509-38871509 8:39013990-39013990
9 ADAM9 NM_003816.3(ADAM9):c.1528G>A (p.Ala510Thr)SNV Uncertain significance 362934 rs769316562 8:38913228-38913228 8:39055709-39055709
10 ADAM9 NM_003816.3(ADAM9):c.1530C>G (p.Ala510=)SNV Uncertain significance 362935 rs773746485 8:38913230-38913230 8:39055711-39055711
11 ADAM9 NM_003816.3(ADAM9):c.*132C>TSNV Uncertain significance 362940 rs763045109 8:38961351-38961351 8:39103832-39103832
12 ADAM9 NM_003816.3(ADAM9):c.2084T>G (p.Leu695Trp)SNV Uncertain significance 362938 rs886062924 8:38947581-38947581 8:39090062-39090062
13 ADAM9 NM_003816.3(ADAM9):c.*218G>ASNV Uncertain significance 362941 rs746792447 8:38961437-38961437 8:39103918-39103918
14 ADAM9 NM_003816.3(ADAM9):c.*442A>GSNV Uncertain significance 362942 rs767864150 8:38961661-38961661 8:39104142-39104142
15 ADAM9 NM_003816.3(ADAM9):c.*1310C>GSNV Uncertain significance 362949 rs528849864 8:38962529-38962529 8:39105010-39105010
16 ADAM9 NM_003816.3(ADAM9):c.*1126T>CSNV Uncertain significance 362948 rs747928783 8:38962345-38962345 8:39104826-39104826
17 ADAM9 NM_003816.3(ADAM9):c.*1396A>CSNV Uncertain significance 362950 rs750531921 8:38962615-38962615 8:39105096-39105096
18 ADAM9 NM_003816.3(ADAM9):c.*573A>GSNV Uncertain significance 911591 8:38961792-38961792 8:39104273-39104273
19 ADAM9 NM_003816.3(ADAM9):c.*623T>CSNV Uncertain significance 908640 8:38961842-38961842 8:39104323-39104323
20 ADAM9 NM_003816.3(ADAM9):c.*740G>ASNV Uncertain significance 908641 8:38961959-38961959 8:39104440-39104440
21 ADAM9 NM_003816.3(ADAM9):c.2069-4C>ASNV Uncertain significance 362937 rs200233670 8:38947562-38947562 8:39090043-39090043
22 ADAM9 NM_003816.3(ADAM9):c.1085A>G (p.Asp362Gly)SNV Uncertain significance 362929 rs751054116 8:38884284-38884284 8:39026765-39026765
23 ADAM9 NM_003816.3(ADAM9):c.1130+8C>GSNV Uncertain significance 362930 rs368693989 8:38884337-38884337 8:39026818-39026818
24 ADAM9 NM_003816.3(ADAM9):c.1501A>G (p.Asn501Asp)SNV Uncertain significance 362933 rs140137562 8:38913201-38913201 8:39055682-39055682
25 ADAM9 NM_003816.3(ADAM9):c.2210+14T>CSNV Uncertain significance 362939 rs199880101 8:38947721-38947721 8:39090202-39090202
26 ADAM9 NM_003816.3(ADAM9):c.315T>G (p.Thr105=)SNV Uncertain significance 362923 rs771587211 8:38871544-38871544 8:39014025-39014025
27 ADAM9 NM_003816.3(ADAM9):c.506A>G (p.Tyr169Cys)SNV Uncertain significance 362925 rs886062923 8:38874833-38874833 8:39017314-39017314
28 ADAM9 NM_003816.3(ADAM9):c.*629C>TSNV Uncertain significance 362944 rs886062926 8:38961848-38961848 8:39104329-39104329
29 ADAM9 NM_003816.3(ADAM9):c.*936A>GSNV Uncertain significance 362946 rs772762813 8:38962155-38962155 8:39104636-39104636
30 ADAM9 NM_003816.3(ADAM9):c.*995A>CSNV Uncertain significance 362947 rs886062928 8:38962214-38962214 8:39104695-39104695
31 ADAM9 NM_003816.3(ADAM9):c.504C>T (p.Val168=)SNV Uncertain significance 362924 rs886062922 8:38874831-38874831 8:39017312-39017312
32 ADAM9 NM_003816.3(ADAM9):c.*1089C>TSNV Uncertain significance 908643 8:38962308-38962308 8:39104789-39104789
33 ADAM9 NM_003816.3(ADAM9):c.*1419G>CSNV Uncertain significance 909493 8:38962638-38962638 8:39105119-39105119
34 ADAM9 NM_003816.3(ADAM9):c.*1441A>GSNV Uncertain significance 909494 8:38962660-38962660 8:39105141-39105141
35 ADAM9 NM_003816.3(ADAM9):c.1130+10T>GSNV Uncertain significance 911528 8:38884339-38884339 8:39026820-39026820
36 ADAM9 NM_003816.3(ADAM9):c.1697+15G>ASNV Uncertain significance 909428 8:38928937-38928937 8:39071418-39071418
37 ADAM9 NM_003816.3(ADAM9):c.1698-10C>GSNV Uncertain significance 909429 8:38934737-38934737 8:39077218-39077218
38 ADAM9 NM_003816.3(ADAM9):c.1698-10C>TSNV Uncertain significance 909430 8:38934737-38934737 8:39077218-39077218
39 ADAM9 NC_000008.11:g.39105271A>GSNV Uncertain significance 909495 8:38962790-38962790 8:39105271-39105271
40 ADAM9 NM_003816.3(ADAM9):c.1546A>G (p.Met516Val)SNV Uncertain significance 841436 8:38913246-38913246 8:39055727-39055727
41 ADAM9 NM_003816.3(ADAM9):c.2065A>G (p.Asn689Asp)SNV Uncertain significance 862548 8:38940589-38940589 8:39083070-39083070
42 ADAM9 NM_003816.3(ADAM9):c.2104T>G (p.Phe702Val)SNV Uncertain significance 850824 8:38947601-38947601 8:39090082-39090082
43 ADAM9 NM_003816.3(ADAM9):c.1269C>T (p.Asp423=)SNV Uncertain significance 908570 8:38899603-38899603 8:39042084-39042084
44 ADAM9 NM_003816.3(ADAM9):c.-18C>GSNV Uncertain significance 909350 8:38854565-38854565 8:38997046-38997046
45 ADAM9 NM_003816.3(ADAM9):c.356A>G (p.Tyr119Cys)SNV Uncertain significance 910312 8:38873659-38873659 8:39016140-39016140
46 ADAM9 NM_003816.3(ADAM9):c.394G>T (p.Asp132Tyr)SNV Uncertain significance 910313 8:38873697-38873697 8:39016178-39016178
47 ADAM9 NM_003816.3(ADAM9):c.681G>T (p.Met227Ile)SNV Uncertain significance 910314 8:38879170-38879170 8:39021651-39021651
48 ADAM9 NM_003816.3(ADAM9):c.798C>G (p.Thr266=)SNV Uncertain significance 911526 8:38880728-38880728 8:39023209-39023209
49 ADAM9 NM_003816.3(ADAM9):c.1023T>A (p.Phe341Leu)SNV Uncertain significance 911527 8:38884222-38884222 8:39026703-39026703
50 ADAM9 NM_003816.3(ADAM9):c.1362G>A (p.Glu454=)SNV Uncertain significance 908571 8:38912059-38912059 8:39054540-39054540

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 outer segment GO:0001750 8.8 GUCY2D CNGB3 CCDC66

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

# Name GO ID Score Top Affiliating Genes
1 laminin binding GO:0043236 8.62 PLEKHA2 ADAM9

Sources for Cone-Rod Dystrophy 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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