ARMD9
MCID: MCL044
MIFTS: 38

Macular Degeneration, Age-Related, 9 (ARMD9)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 9

MalaCards integrated aliases for Macular Degeneration, Age-Related, 9:

Name: Macular Degeneration, Age-Related, 9 57 72 13 70
Armd9 57 12 72
Age Related Macular Degeneration 9 12 15
Age-Related Macular Degeneration 9 29 6
Macular Degeneration, Age-Related, 9, Susceptibility to 6
Macular Degeneration, Age-Related, Type 9 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110021
OMIM® 57 611378
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C1969651
UMLS 70 C1969651

Summaries for Macular Degeneration, Age-Related, 9

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 9: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

MalaCards based summary : Macular Degeneration, Age-Related, 9, also known as armd9, is related to rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. An important gene associated with Macular Degeneration, Age-Related, 9 is C3 (Complement C3), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and ECM-receptor interaction. Affiliated tissues include eye and endothelial.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.

More information from OMIM: 611378 PS603075

Related Diseases for Macular Degeneration, Age-Related, 9

Diseases in the Macular Degeneration, Early-Onset family:

Macular Degeneration, Age-Related, 2 Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 4
Macular Degeneration, Age-Related, 9 Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11 Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 5 Macular Degeneration, Age-Related, 8
Macular Degeneration, Age-Related, 12 Macular Degeneration, Age-Related, 13
Macular Degeneration, Age-Related, 14 Macular Degeneration, Age-Related, 15

Diseases related to Macular Degeneration, Age-Related, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 rapidly progressive glomerulonephritis 10.1 ICAM1 C3
2 membranoproliferative glomerulonephritis 10.0 ICAM1 C3
3 otitis media 10.0 ICAM1 C3
4 retinal vascular occlusion 10.0 SELP ICAM1
5 iga glomerulonephritis 10.0 ICAM1 C3
6 vein disease 10.0 SELP ICAM1
7 common cold 10.0 SELP ICAM1
8 thrombotic thrombocytopenic purpura 10.0 SELP C3
9 hemolytic-uremic syndrome 10.0 SELP C3
10 paroxysmal nocturnal hemoglobinuria 10.0 SELP C3
11 autoimmune disease of musculoskeletal system 10.0 ICAM1 C3
12 meningitis 9.9 ICAM1 C3
13 peritonitis 9.9 SELP ICAM1
14 hemolytic uremic syndrome, atypical 1 9.9 SELP C3
15 actinic prurigo 9.9 VCAM1 ICAM1
16 rheumatoid vasculitis 9.9 VCAM1 ICAM1
17 shwartzman phenomenon 9.9 VCAM1 ICAM1
18 mooren's ulcer 9.9 VCAM1 ICAM1
19 limbal stem cell deficiency 9.9 VCAM1 ICAM1
20 buerger disease 9.9 VCAM1 ICAM1
21 post-thrombotic syndrome 9.9 VCAM1 ICAM1
22 sympathetic ophthalmia 9.9 VCAM1 ICAM1
23 oral lichen planus 9.9 VCAM1 ICAM1
24 leukostasis 9.9 VCAM1 ICAM1
25 plasmodium vivax malaria 9.9 VCAM1 ICAM1
26 crescentic glomerulonephritis 9.9 VCAM1 ICAM1
27 dengue disease 9.9 VCAM1 ICAM1
28 severe pre-eclampsia 9.9 VCAM1 C3
29 polymyositis 9.9 VCAM1 ICAM1
30 primary progressive multiple sclerosis 9.9 VCAM1 ICAM1
31 blood platelet disease 9.9 SELP C3
32 takayasu arteritis 9.9 VCAM1 ICAM1
33 sleep apnea 9.9 VCAM1 ICAM1
34 intracranial berry aneurysm 9.9 VCAM1 ICAM1
35 fabry disease 9.8 VCAM1 ICAM1
36 trypanosomiasis 9.8 VCAM1 ICAM1
37 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 VCAM1 ICAM1
38 autoimmune disease of central nervous system 9.8 VCAM1 ICAM1
39 intermediate coronary syndrome 9.8 VCAM1 SELP
40 autoimmune disease of the nervous system 9.8 VCAM1 ICAM1
41 blood coagulation disease 9.8 SELP C3
42 contact dermatitis 9.8 VCAM1 ICAM1
43 allergic contact dermatitis 9.8 VCAM1 ICAM1
44 synovitis 9.8 VCAM1 ICAM1
45 microvascular complications of diabetes 5 9.8 VCAM1 ICAM1
46 aortic aneurysm, familial abdominal, 1 9.8 VCAM1 ICAM1
47 sickle cell disease 9.8 VCAM1 SELP
48 myocarditis 9.8 VCAM1 ICAM1
49 allergic asthma 9.8 VCAM1 ICAM1
50 acquired immunodeficiency syndrome 9.8 VCAM1 ICAM1

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 9:



Diseases related to Macular Degeneration, Age-Related, 9

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 9

Clinical features from OMIM®:

611378 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 9

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 9

Genetic Tests for Macular Degeneration, Age-Related, 9

Genetic tests related to Macular Degeneration, Age-Related, 9:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 9 29 C3

Anatomical Context for Macular Degeneration, Age-Related, 9

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 9:

40
Eye, Endothelial

Publications for Macular Degeneration, Age-Related, 9

Articles related to Macular Degeneration, Age-Related, 9:

(show all 14)
# Title Authors PMID Year
1
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 57 6
24036949 2013
2
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 6 57
24036952 2013
3
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. 57 6
24036950 2013
4
Seven new loci associated with age-related macular degeneration. 57 6
23455636 2013
5
Variation in complement factor 3 is associated with risk of age-related macular degeneration. 6 57
17767156 2007
6
Complement C3 variant and the risk of age-related macular degeneration. 57 6
17634448 2007
7
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
8
Influence of donor C3 allotype on late renal-transplantation outcome. 6
16687714 2006
9
Molecular basis of polymorphisms of human complement component C3. 6
1976733 1990
10
Outcomes after Descemet membrane endothelial keratoplasty over a period of 7 years at a tertiary referral center: endothelial cell density, central corneal thickness, and visual acuity. 61
33723638 2021
11
Image artefacts in swept-source optical coherence tomography angiography. 61
27439739 2017
12
Functional Magnetic Resonance Imaging in Patients with the Wet Form of Age-Related Macular Degeneration. 61
28167987 2013
13
[Subjective sensations after intravitreal injection of bevacizumab]. 61
17385118 2007
14
Effect of simultaneous oblique muscle surgery in foveal translocation by 360 degrees retinotomy. 61
11954777 2002

Variations for Macular Degeneration, Age-Related, 9

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 9:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV risk factor 92162 rs147859257 GRCh37: 19:6718146-6718146
GRCh38: 19:6718135-6718135
2 C3 NM_000064.4(C3):c.304C>G (p.Arg102Gly) SNV risk factor 17056 rs2230199 GRCh37: 19:6718387-6718387
GRCh38: 19:6718376-6718376
3 C3 NM_000064.4(C3):c.1873A>T (p.Ile625Phe) SNV Uncertain significance 330315 rs144432231 GRCh37: 19:6707913-6707913
GRCh38: 19:6707902-6707902
4 C3 NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) SNV Uncertain significance 330271 rs2230210 GRCh37: 19:6678030-6678030
GRCh38: 19:6678019-6678019
5 C3 NM_000064.4(C3):c.4645C>T (p.Leu1549=) SNV Uncertain significance 732571 rs149202905 GRCh37: 19:6678452-6678452
GRCh38: 19:6678441-6678441
6 C3 NM_000064.4(C3):c.2583+9C>T SNV Uncertain significance 719210 rs372400121 GRCh37: 19:6697654-6697654
GRCh38: 19:6697643-6697643
7 C3 NM_000064.4(C3):c.2157G>A (p.Ala719=) SNV Uncertain significance 722778 rs143671993 GRCh37: 19:6707175-6707175
GRCh38: 19:6707164-6707164
8 C3 NM_000064.4(C3):c.1119+10G>A SNV Uncertain significance 753058 rs752328639 GRCh37: 19:6712509-6712509
GRCh38: 19:6712498-6712498
9 C3 NC_000019.10:g.6720664T>G SNV Uncertain significance 894452 GRCh37: 19:6720675-6720675
GRCh38: 19:6720664-6720664
10 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV Uncertain significance 92162 rs147859257 GRCh37: 19:6718146-6718146
GRCh38: 19:6718135-6718135
11 C3 NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV Uncertain significance 92162 rs147859257 GRCh37: 19:6718146-6718146
GRCh38: 19:6718135-6718135
12 C3 NM_000064.4(C3):c.2861G>A (p.Arg954His) SNV Uncertain significance 389714 rs139864704 GRCh37: 19:6696606-6696606
GRCh38: 19:6696595-6696595
13 C3 NM_000064.4(C3):c.26T>C (p.Leu9Pro) SNV Uncertain significance 872465 GRCh37: 19:6720575-6720575
GRCh38: 19:6720564-6720564
14 C3 NM_000064.4(C3):c.1898A>G (p.Lys633Arg) SNV Uncertain significance 330314 rs140655115 GRCh37: 19:6707888-6707888
GRCh38: 19:6707877-6707877
15 C3 NM_000064.4(C3):c.681C>T (p.Tyr227=) SNV Uncertain significance 330337 rs756694755 GRCh37: 19:6714178-6714178
GRCh38: 19:6714167-6714167
16 C3 NM_000064.4(C3):c.1855G>A (p.Val619Met) SNV Uncertain significance 330316 rs146613648 GRCh37: 19:6707931-6707931
GRCh38: 19:6707920-6707920
17 C3 NM_000064.4(C3):c.443G>A (p.Arg148Gln) SNV Uncertain significance 330340 rs886054657 GRCh37: 19:6718166-6718166
GRCh38: 19:6718155-6718155
18 C3 NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) SNV Uncertain significance 330284 rs147116781 GRCh37: 19:6681983-6681983
GRCh38: 19:6681972-6681972
19 C3 NM_000064.4(C3):c.4803C>T (p.His1601=) SNV Uncertain significance 330274 rs762332809 GRCh37: 19:6678210-6678210
GRCh38: 19:6678199-6678199
20 C3 NM_000064.4(C3):c.1819A>G (p.Lys607Glu) SNV Uncertain significance 330318 rs140637006 GRCh37: 19:6709721-6709721
GRCh38: 19:6709710-6709710
21 C3 NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) SNV Uncertain significance 330276 rs746985605 GRCh37: 19:6678254-6678254
GRCh38: 19:6678243-6678243
22 C3 NM_000064.4(C3):c.1303G>A (p.Glu435Lys) SNV Uncertain significance 330326 rs774826179 GRCh37: 19:6711174-6711174
GRCh38: 19:6711163-6711163
23 C3 NM_000064.4(C3):c.2857G>A (p.Gly953Ser) SNV Uncertain significance 330298 rs779124363 GRCh37: 19:6696610-6696610
GRCh38: 19:6696599-6696599
24 C3 NM_000064.4(C3):c.1470C>T (p.Tyr490=) SNV Uncertain significance 894350 GRCh37: 19:6711007-6711007
GRCh38: 19:6710996-6710996
25 C3 NM_000064.4(C3):c.1098A>G (p.Pro366=) SNV Uncertain significance 894380 GRCh37: 19:6712540-6712540
GRCh38: 19:6712529-6712529
26 C3 NM_000064.4(C3):c.-44C>T SNV Uncertain significance 894053 GRCh37: 19:6720644-6720644
GRCh38: 19:6720633-6720633
27 C3 NM_000064.4(C3):c.3970-15C>G SNV Uncertain significance 894695 GRCh37: 19:6684860-6684860
GRCh38: 19:6684849-6684849
28 C3 NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) SNV Uncertain significance 894696 GRCh37: 19:6685015-6685015
GRCh38: 19:6685004-6685004
29 C3 NM_000064.4(C3):c.2646C>T (p.His882=) SNV Uncertain significance 893863 GRCh37: 19:6697505-6697505
GRCh38: 19:6697494-6697494
30 C3 NM_000064.4(C3):c.2617T>C (p.Cys873Arg) SNV Uncertain significance 894778 GRCh37: 19:6697534-6697534
GRCh38: 19:6697523-6697523
31 C3 NM_000064.4(C3):c.2584G>T (p.Val862Leu) SNV Uncertain significance 894779 GRCh37: 19:6697567-6697567
GRCh38: 19:6697556-6697556
32 C3 NM_000064.4(C3):c.2951-5_2951-3del Microsatellite Uncertain significance 625901 rs544122376 GRCh37: 19:6694648-6694650
GRCh38: 19:6694637-6694639
33 C3 NM_000064.4(C3):c.4535G>A (p.Arg1512His) SNV Uncertain significance 330281 rs142868256 GRCh37: 19:6679429-6679429
GRCh38: 19:6679418-6679418
34 C3 NM_000064.4(C3):c.4824C>T (p.Ser1608=) SNV Uncertain significance 758206 rs139457470 GRCh37: 19:6678189-6678189
GRCh38: 19:6678178-6678178
35 C3 NM_000064.4(C3):c.2700C>G (p.Ile900Met) SNV Uncertain significance 330302 rs763155610 GRCh37: 19:6697451-6697451
GRCh38: 19:6697440-6697440
36 C3 NM_000064.4(C3):c.1119+14C>T SNV Uncertain significance 330330 rs374368486 GRCh37: 19:6712505-6712505
GRCh38: 19:6712494-6712494
37 C3 NM_000064.4(C3):c.3993A>G (p.Thr1331=) SNV Uncertain significance 330289 rs202210310 GRCh37: 19:6684822-6684822
GRCh38: 19:6684811-6684811
38 C3 NM_000064.4(C3):c.4030-4C>T SNV Uncertain significance 330288 rs372612816 GRCh37: 19:6684665-6684665
GRCh38: 19:6684654-6684654
39 C3 NM_000064.4(C3):c.4941G>A (p.Gln1647=) SNV Uncertain significance 330269 rs780251209 GRCh37: 19:6677944-6677944
GRCh38: 19:6677933-6677933
40 C3 NM_000064.4(C3):c.1758G>A (p.Glu586=) SNV Uncertain significance 330320 rs764201055 GRCh37: 19:6709782-6709782
GRCh38: 19:6709771-6709771
41 C3 NM_000064.4(C3):c.2799G>A (p.Pro933=) SNV Uncertain significance 330299 rs149209011 GRCh37: 19:6696668-6696668
GRCh38: 19:6696657-6696657
42 C3 NM_000064.4(C3):c.4095C>G (p.Val1365=) SNV Uncertain significance 330287 rs527830114 GRCh37: 19:6684596-6684596
GRCh38: 19:6684585-6684585
43 C3 NM_000064.4(C3):c.1164C>T (p.Pro388=) SNV Uncertain significance 330328 rs769368306 GRCh37: 19:6712373-6712373
GRCh38: 19:6712362-6712362
44 C3 NM_000064.4(C3):c.4827C>T (p.Ser1609=) SNV Uncertain significance 330273 rs150537373 GRCh37: 19:6678186-6678186
GRCh38: 19:6678175-6678175
45 C3 NM_000064.4(C3):c.819C>T (p.Phe273=) SNV Uncertain significance 330333 rs886054656 GRCh37: 19:6713475-6713475
GRCh38: 19:6713464-6713464
46 C3 NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) SNV Uncertain significance 330293 rs750654763 GRCh37: 19:6693026-6693026
GRCh38: 19:6693015-6693015
47 C3 NM_000064.4(C3):c.3687C>T (p.Asn1229=) SNV Uncertain significance 330291 rs201108539 GRCh37: 19:6686258-6686258
GRCh38: 19:6686247-6686247
48 C3 NM_000064.4(C3):c.2907C>T (p.Asp969=) SNV Uncertain significance 330295 rs144672500 GRCh37: 19:6696433-6696433
GRCh38: 19:6696422-6696422
49 C3 NM_000064.4(C3):c.1042A>G (p.Ile348Val) SNV Uncertain significance 330331 rs141737564 GRCh37: 19:6712596-6712596
GRCh38: 19:6712585-6712585
50 C3 NM_000064.4(C3):c.4850+12C>A SNV Uncertain significance 330272 rs748416799 GRCh37: 19:6678151-6678151
GRCh38: 19:6678140-6678140

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 9:

72
# Symbol AA change Variation ID SNP ID
1 C3 p.Lys155Gln VAR_070941 rs147859257

Expression for Macular Degeneration, Age-Related, 9

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 9.

Pathways for Macular Degeneration, Age-Related, 9

Pathways related to Macular Degeneration, Age-Related, 9 according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 VCAM1 SELP ICAM1 C3
2
Show member pathways
11.78 VCAM1 ICAM1
3 11.73 VCAM1 ICAM1
4 11.67 VCAM1 ICAM1
5 11.65 SELP ICAM1
6 11.61 VCAM1 ICAM1
7 11.61 VCAM1 SELP ICAM1
8 11.6 VCAM1 ICAM1
9 11.55 VCAM1 ICAM1
10 11.52 VCAM1 ICAM1
11 11.46 VCAM1 ICAM1 C3
12 11.33 VCAM1 ICAM1
13
Show member pathways
11.29 VCAM1 ICAM1
14 11.16 SELP ICAM1
15 11.11 VCAM1 ICAM1
16 11.11 SELP ICAM1 C3
17 11.08 VCAM1 ICAM1
18 10.97 VCAM1 ICAM1
19 10.57 VCAM1 ICAM1
20 10.5 VCAM1 SELP ICAM1

GO Terms for Macular Degeneration, Age-Related, 9

Cellular components related to Macular Degeneration, Age-Related, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.33 VCAM1 ICAM1 C3
2 extracellular space GO:0005615 9.26 VCAM1 SELP ICAM1 C3
3 external side of plasma membrane GO:0009897 8.8 VCAM1 SELP ICAM1

Biological processes related to Macular Degeneration, Age-Related, 9 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.67 VCAM1 SELP ICAM1
2 cellular response to tumor necrosis factor GO:0071356 9.52 VCAM1 ICAM1
3 response to ethanol GO:0045471 9.51 VCAM1 ICAM1
4 regulation of immune response GO:0050776 9.5 VCAM1 ICAM1 C3
5 interferon-gamma-mediated signaling pathway GO:0060333 9.48 VCAM1 ICAM1
6 response to ionizing radiation GO:0010212 9.46 VCAM1 ICAM1
7 cellular response to amyloid-beta GO:1904646 9.43 VCAM1 ICAM1
8 response to lipopolysaccharide GO:0032496 9.43 VCAM1 SELP ICAM1
9 calcium-mediated signaling using intracellular calcium source GO:0035584 9.4 VCAM1 SELP
10 leukocyte tethering or rolling GO:0050901 9.37 VCAM1 SELP
11 membrane to membrane docking GO:0022614 9.16 VCAM1 ICAM1
12 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.13 VCAM1 SELP ICAM1
13 leukocyte cell-cell adhesion GO:0007159 8.8 VCAM1 SELP ICAM1

Molecular functions related to Macular Degeneration, Age-Related, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 VCAM1 ICAM1

Sources for Macular Degeneration, Age-Related, 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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