CORD9
MCID: CNR017
MIFTS: 33

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 72 29 13 6 15 70
Cord9 57 12 72
Dystrophy, Cone-Rod, Type 9 39
Retinitis Pigmentosa 9 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 612775
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
MedGen 41 C1423873
UMLS 70 C1423873 C1867300

Summaries for Cone-Rod Dystrophy 9

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include eye, retina and bone, 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®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
reduced visual acuity
astigmatism
optic nerve atrophy
myopia, mild
loss of peripheral vision
more

Clinical features from OMIM®:

612775 (Updated 20-May-2021)

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:

40
Eye, Retina, Bone

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. 57 6 61
11581183 2001
2
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 57 6
25091951 2014
3
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 57 6
19409519 2009
4
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. 61
20806078 2010
5
A study of candidate genes for day blindness in the standard wire haired dachshund. 61
18593457 2008
6
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 Position
1 ADAM9 NM_003816.3(ADAM9):c.1130+1G>A SNV Pathogenic 6876 rs786205085 GRCh37: 8:38884330-38884330
GRCh38: 8:39026811-39026811
2 ADAM9 NM_003816.3(ADAM9):c.766C>T (p.Arg256Ter) SNV Pathogenic 6877 rs137853040 GRCh37: 8:38880696-38880696
GRCh38: 8:39023177-39023177
3 ADAM9 NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) SNV Pathogenic 6878 rs137853041 GRCh37: 8:38874817-38874817
GRCh38: 8:39017298-39017298
4 ADAM9 NM_003816.3(ADAM9):c.411-8A>G SNV Pathogenic 6879 rs786205086 GRCh37: 8:38874730-38874730
GRCh38: 8:39017211-39017211
5 ADAM9 NM_003816.3(ADAM9):c.1396-2A>G SNV Pathogenic 189795 rs786205151 GRCh37: 8:38913094-38913094
GRCh38: 8:39055575-39055575
6 ADAM9 NM_003816.3(ADAM9):c.639T>G (p.Tyr213Ter) SNV Pathogenic 915360 GRCh37: 8:38876404-38876404
GRCh38: 8:39018885-39018885
7 ADAM9 NM_003816.3(ADAM9):c.*629C>T SNV Uncertain significance 362944 rs886062926 GRCh37: 8:38961848-38961848
GRCh38: 8:39104329-39104329
8 ADAM9 NM_003816.3(ADAM9):c.681G>T (p.Met227Ile) SNV Uncertain significance 910314 GRCh37: 8:38879170-38879170
GRCh38: 8:39021651-39021651
9 ADAM9 NM_003816.3(ADAM9):c.394G>T (p.Asp132Tyr) SNV Uncertain significance 910313 GRCh37: 8:38873697-38873697
GRCh38: 8:39016178-39016178
10 ADAM9 NM_003816.3(ADAM9):c.356A>G (p.Tyr119Cys) SNV Uncertain significance 910312 GRCh37: 8:38873659-38873659
GRCh38: 8:39016140-39016140
11 ADAM9 NM_003816.3(ADAM9):c.280G>A (p.Val94Ile) SNV Uncertain significance 388305 rs146980702 GRCh37: 8:38871509-38871509
GRCh38: 8:39013990-39013990
12 ADAM9 NM_003816.3(ADAM9):c.1130+10T>G SNV Uncertain significance 911528 GRCh37: 8:38884339-38884339
GRCh38: 8:39026820-39026820
13 ADAM9 NM_003816.3(ADAM9):c.*483A>G SNV Uncertain significance 911589 GRCh37: 8:38961702-38961702
GRCh38: 8:39104183-39104183
14 ADAM9 NM_003816.3(ADAM9):c.*573A>G SNV Uncertain significance 911591 GRCh37: 8:38961792-38961792
GRCh38: 8:39104273-39104273
15 ADAM9 NM_003816.3(ADAM9):c.1419C>T (p.Cys473=) SNV Uncertain significance 908572 GRCh37: 8:38913119-38913119
GRCh38: 8:39055600-39055600
16 ADAM9 NM_003816.3(ADAM9):c.1449A>G (p.Pro483=) SNV Uncertain significance 908573 GRCh37: 8:38913149-38913149
GRCh38: 8:39055630-39055630
17 ADAM9 NM_003816.3(ADAM9):c.*623T>C SNV Uncertain significance 908640 GRCh37: 8:38961842-38961842
GRCh38: 8:39104323-39104323
18 ADAM9 NM_003816.3(ADAM9):c.*740G>A SNV Uncertain significance 908641 GRCh37: 8:38961959-38961959
GRCh38: 8:39104440-39104440
19 ADAM9 NM_003816.3(ADAM9):c.*1089C>T SNV Uncertain significance 908643 GRCh37: 8:38962308-38962308
GRCh38: 8:39104789-39104789
20 ADAM9 , TM2D2 NM_003816.3(ADAM9):c.-18C>G SNV Uncertain significance 909350 GRCh37: 8:38854565-38854565
GRCh38: 8:38997046-38997046
21 ADAM9 NM_003816.3(ADAM9):c.1023T>A (p.Phe341Leu) SNV Uncertain significance 911527 GRCh37: 8:38884222-38884222
GRCh38: 8:39026703-39026703
22 ADAM9 NM_003816.3(ADAM9):c.2210+14T>C SNV Uncertain significance 362939 rs199880101 GRCh37: 8:38947721-38947721
GRCh38: 8:39090202-39090202
23 ADAM9 NM_003816.3(ADAM9):c.*1126T>C SNV Uncertain significance 362948 rs747928783 GRCh37: 8:38962345-38962345
GRCh38: 8:39104826-39104826
24 ADAM9 NM_003816.3(ADAM9):c.1085A>G (p.Asp362Gly) SNV Uncertain significance 362929 rs751054116 GRCh37: 8:38884284-38884284
GRCh38: 8:39026765-39026765
25 ADAM9 NM_003816.3(ADAM9):c.2069-4C>A SNV Uncertain significance 362937 rs200233670 GRCh37: 8:38947562-38947562
GRCh38: 8:39090043-39090043
26 ADAM9 NM_003816.3(ADAM9):c.1528G>A (p.Ala510Thr) SNV Uncertain significance 362934 rs769316562 GRCh37: 8:38913228-38913228
GRCh38: 8:39055709-39055709
27 ADAM9 NM_003816.3(ADAM9):c.504C>T (p.Val168=) SNV Uncertain significance 362924 rs886062922 GRCh37: 8:38874831-38874831
GRCh38: 8:39017312-39017312
28 ADAM9 NM_003816.3(ADAM9):c.*132C>T SNV Uncertain significance 362940 rs763045109 GRCh37: 8:38961351-38961351
GRCh38: 8:39103832-39103832
29 ADAM9 NM_003816.3(ADAM9):c.*936A>G SNV Uncertain significance 362946 rs772762813 GRCh37: 8:38962155-38962155
GRCh38: 8:39104636-39104636
30 ADAM9 NM_003816.3(ADAM9):c.*1310C>G SNV Uncertain significance 362949 rs528849864 GRCh37: 8:38962529-38962529
GRCh38: 8:39105010-39105010
31 ADAM9 NM_003816.3(ADAM9):c.1130+8C>G SNV Uncertain significance 362930 rs368693989 GRCh37: 8:38884337-38884337
GRCh38: 8:39026818-39026818
32 ADAM9 NM_003816.3(ADAM9):c.2084T>G (p.Leu695Trp) SNV Uncertain significance 362938 rs886062924 GRCh37: 8:38947581-38947581
GRCh38: 8:39090062-39090062
33 ADAM9 NM_003816.3(ADAM9):c.1530C>G (p.Ala510=) SNV Uncertain significance 362935 rs773746485 GRCh37: 8:38913230-38913230
GRCh38: 8:39055711-39055711
34 ADAM9 NM_003816.3(ADAM9):c.506A>G (p.Tyr169Cys) SNV Uncertain significance 362925 rs886062923 GRCh37: 8:38874833-38874833
GRCh38: 8:39017314-39017314
35 ADAM9 NM_003816.3(ADAM9):c.*218G>A SNV Uncertain significance 362941 rs746792447 GRCh37: 8:38961437-38961437
GRCh38: 8:39103918-39103918
36 ADAM9 NM_003816.3(ADAM9):c.*995A>C SNV Uncertain significance 362947 rs886062928 GRCh37: 8:38962214-38962214
GRCh38: 8:39104695-39104695
37 ADAM9 NM_003816.3(ADAM9):c.*1396A>C SNV Uncertain significance 362950 rs750531921 GRCh37: 8:38962615-38962615
GRCh38: 8:39105096-39105096
38 ADAM9 NM_003816.3(ADAM9):c.1501A>G (p.Asn501Asp) SNV Uncertain significance 362933 rs140137562 GRCh37: 8:38913201-38913201
GRCh38: 8:39055682-39055682
39 ADAM9 NM_003816.3(ADAM9):c.315T>G (p.Thr105=) SNV Uncertain significance 362923 rs771587211 GRCh37: 8:38871544-38871544
GRCh38: 8:39014025-39014025
40 ADAM9 NM_003816.3(ADAM9):c.*442A>G SNV Uncertain significance 362942 rs767864150 GRCh37: 8:38961661-38961661
GRCh38: 8:39104142-39104142
41 ADAM9 NM_003816.3(ADAM9):c.1269C>T (p.Asp423=) SNV Uncertain significance 908570 GRCh37: 8:38899603-38899603
GRCh38: 8:39042084-39042084
42 ADAM9 NM_003816.3(ADAM9):c.1362G>A (p.Glu454=) SNV Uncertain significance 908571 GRCh37: 8:38912059-38912059
GRCh38: 8:39054540-39054540
43 ADAM9 NM_003816.3(ADAM9):c.1546A>G (p.Met516Val) SNV Uncertain significance 841436 GRCh37: 8:38913246-38913246
GRCh38: 8:39055727-39055727
44 ADAM9 NM_003816.3(ADAM9):c.1560T>C (p.Tyr520=) SNV Uncertain significance 909427 GRCh37: 8:38913260-38913260
GRCh38: 8:39055741-39055741
45 ADAM9 NM_003816.3(ADAM9):c.1697+15G>A SNV Uncertain significance 909428 GRCh37: 8:38928937-38928937
GRCh38: 8:39071418-39071418
46 ADAM9 NM_003816.3(ADAM9):c.1698-10C>G SNV Uncertain significance 909429 GRCh37: 8:38934737-38934737
GRCh38: 8:39077218-39077218
47 ADAM9 NM_003816.3(ADAM9):c.1698-10C>T SNV Uncertain significance 909430 GRCh37: 8:38934737-38934737
GRCh38: 8:39077218-39077218
48 ADAM9 NM_003816.3(ADAM9):c.*1419G>C SNV Uncertain significance 909493 GRCh37: 8:38962638-38962638
GRCh38: 8:39105119-39105119
49 ADAM9 NM_003816.3(ADAM9):c.*1441A>G SNV Uncertain significance 909494 GRCh37: 8:38962660-38962660
GRCh38: 8:39105141-39105141
50 ADAM9 NC_000008.11:g.39105271A>G SNV Uncertain significance 909495 GRCh37: 8:38962790-38962790
GRCh38: 8:39105271-39105271

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
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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