ARMD14
MCID: MCL078
MIFTS: 36

Macular Degeneration, Age-Related, 14 (ARMD14)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 14

MalaCards integrated aliases for Macular Degeneration, Age-Related, 14:

Name: Macular Degeneration, Age-Related, 14 57 72 70
Armd14 57 12 72
Age Related Macular Degeneration 14 12 15
Age-Related Macular Degeneration 14 29 6
Macular Degeneration, Age-Related, 14, Reduced Risk of 57
Macular Degeneration, Age-Related, Type 14 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110026
OMIM® 57 615489
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
UMLS 70 C3809653

Summaries for Macular Degeneration, Age-Related, 14

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 14: 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, 14, also known as armd14, is related to macular degeneration, age-related, 1 and kuhnt-junius degeneration. An important gene associated with Macular Degeneration, Age-Related, 14 is C2 (Complement C2), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Autophagy Pathway. Affiliated tissues include eye and endothelial, and related phenotype is skeleton.

Disease Ontology : 12 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.

More information from OMIM: 615489 PS603075

Related Diseases for Macular Degeneration, Age-Related, 14

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, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 10.3
2 kuhnt-junius degeneration 10.3
3 complement factor b deficiency 10.2 CFB C2
4 basal laminar drusen 10.2 CFB C2
5 retinal drusen 10.1 CFB C2
6 complement component 2 deficiency 10.1 CFB C2
7 complement deficiency 10.1 CFB C2
8 acute laryngopharyngitis 10.0 BECN1 ATG12
9 spinocerebellar ataxia, autosomal recessive 20 10.0 SQSTM1 ATG5
10 parkinson disease 1, autosomal dominant 9.9 SQSTM1 BECN1
11 degeneration of macula and posterior pole 9.8 CFB C2
12 malt worker's lung 9.8 FOS ATG5
13 cystinosis 9.7 SQSTM1 BECN1
14 danon disease 9.7 SQSTM1 BECN1 ATG5
15 mouth disease 9.7 BECN1 ATG5 ATG12
16 occlusion precerebral artery 9.6 RBFOX3 FOS CYCS
17 breast adenocarcinoma 9.5 SQSTM1 FOS CYCS
18 peripheral nervous system disease 9.4 RBFOX3 FOS CYCS
19 parkinson disease, late-onset 9.4 SQSTM1 CYCS BECN1 ATG12
20 disease of mental health 8.7 SQSTM1 RBFOX3 FOS CYCS BECN1 ATG5

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 14:



Diseases related to Macular Degeneration, Age-Related, 14

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 14

Clinical features from OMIM®:

615489 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 ATG12 BECN1 CFB CYCS FOS SQSTM1

Drugs & Therapeutics for Macular Degeneration, Age-Related, 14

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 14

Genetic Tests for Macular Degeneration, Age-Related, 14

Genetic tests related to Macular Degeneration, Age-Related, 14:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 14 29 C2 CFB

Anatomical Context for Macular Degeneration, Age-Related, 14

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 14:

40
Eye, Endothelial

Publications for Macular Degeneration, Age-Related, 14

Articles related to Macular Degeneration, Age-Related, 14:

(show all 11)
# Title Authors PMID Year
1
Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. 57 6
16518403 2006
2
Seven new loci associated with age-related macular degeneration. 57
23455636 2013
3
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 6
16936732 2006
4
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
5
Long-Term Changes in Submacular Choroidal Thickness after Intravitreal Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration: 14-Mo Follow-Up. 61
31581852 2020
6
Long-Term Changes in Submacular Choroidal Thickness after Intravitreal Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration: 14-Mo Follow-Up. 61
30909756 2019
7
SHORT-TERM SAFETY OF 2 MG INTRAVITREAL ZIV-AFLIBERCEPT. 61
28060148 2017
8
Reliability of the time trade-off technique of utility assessment in patients with retinal disease. 61
11428529 2001
9
[Indocyanine green choroidal angiography in macular hemorrhage of uncertain origin]. 61
11189335 1997
10
Correlation between scanning laser ophthalmoscope microperimetry and anatomic abnormalities in patients with subfoveal neovascularization. 61
8942878 1996
11
[Fundus oriented microperimetry with the scanning laser ophthalmoscope in age-induced macular degeneration]. 61
8992088 1996

Variations for Macular Degeneration, Age-Related, 14

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 14:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C2 NM_000063.6(C2):c.1360+62G>T SNV protective 12131 rs547154 GRCh37: 6:31910938-31910938
GRCh38: 6:31943161-31943161
2 C2 , CFB NM_001710.5(CFB):c.95G>A (p.Arg32Gln) SNV protective 16075 rs641153 GRCh37: 6:31914180-31914180
GRCh38: 6:31946403-31946403
3 C2 , CFB NM_001710.6(CFB):c.26T>A (p.Leu9His) SNV Pathogenic 16077 rs4151667 GRCh37: 6:31914024-31914024
GRCh38: 6:31946247-31946247
4 CFB , C2 NM_000063.6(C2):c.1450A>G (p.Ile484Val) SNV Uncertain significance 356250 rs145988012 GRCh37: 6:31911091-31911091
GRCh38: 6:31943314-31943314
5 C2-AS1 , C2 NM_000063.6(C2):c.988+5G>A SNV Uncertain significance 625900 rs780974763 GRCh37: 6:31903843-31903843
GRCh38: 6:31936066-31936066
6 C2 NM_000063.6(C2):c.749C>G (p.Ser250Cys) SNV Uncertain significance 906982 GRCh37: 6:31901976-31901976
GRCh38: 6:31934199-31934199
7 C2 NM_000063.6(C2):c.*82C>T SNV Uncertain significance 356262 rs747202032 GRCh37: 6:31913216-31913216
GRCh38: 6:31945439-31945439
8 C2 NM_000063.6(C2):c.*141C>T SNV Uncertain significance 907047 GRCh37: 6:31913275-31913275
GRCh38: 6:31945498-31945498
9 C2 NM_000063.6(C2):c.-36G>A SNV Uncertain significance 907891 GRCh37: 6:31895494-31895494
GRCh38: 6:31927717-31927717
10 C2 NM_000063.6(C2):c.-21G>A SNV Uncertain significance 907892 GRCh37: 6:31895509-31895509
GRCh38: 6:31927732-31927732
11 C2 NM_000063.6(C2):c.819C>T (p.Phe273=) SNV Uncertain significance 907956 GRCh37: 6:31902046-31902046
GRCh38: 6:31934269-31934269
12 C2-AS1 , C2 NM_000063.6(C2):c.913C>T (p.Leu305Phe) SNV Uncertain significance 907957 GRCh37: 6:31903763-31903763
GRCh38: 6:31935986-31935986
13 CFB , C2 NM_000063.6(C2):c.2080-8T>C SNV Uncertain significance 356259 rs201806170 GRCh37: 6:31912947-31912947
GRCh38: 6:31945170-31945170
14 C2 NM_000063.6(C2):c.386G>A (p.Arg129His) SNV Uncertain significance 906979 GRCh37: 6:31896638-31896638
GRCh38: 6:31928861-31928861
15 C2 NM_000063.6(C2):c.442+15T>G SNV Uncertain significance 906980 GRCh37: 6:31896709-31896709
GRCh38: 6:31928932-31928932
16 CFB , C2 NM_000063.6(C2):c.1577A>G (p.Lys526Arg) SNV Uncertain significance 908037 GRCh37: 6:31911430-31911430
GRCh38: 6:31943653-31943653
17 C2 NM_000063.6(C2):c.849+59G>A SNV Uncertain significance 992548 GRCh37: 6:31902135-31902135
GRCh38: 6:31934358-31934358
18 C2-AS1 , C2 NM_000063.6(C2):c.929A>G (p.Asn310Ser) SNV Uncertain significance 907958 GRCh37: 6:31903779-31903779
GRCh38: 6:31936002-31936002
19 CFB NM_001710.6(CFB):c.658+7T>C SNV Uncertain significance 992561 GRCh37: 6:31915305-31915305
GRCh38: 6:31947528-31947528
20 C2 NM_001178063.3(C2):c.74-5894C>A SNV Uncertain significance 356241 rs776263411 GRCh37: 6:31895493-31895493
GRCh38: 6:31927716-31927716
21 C2 NM_000063.6(C2):c.*120T>C SNV Uncertain significance 356263 rs886061294 GRCh37: 6:31913254-31913254
GRCh38: 6:31945477-31945477
22 C2-AS1 , C2 NM_000063.6(C2):c.1066C>T (p.Leu356Phe) SNV Uncertain significance 356246 rs886061293 GRCh37: 6:31905173-31905173
GRCh38: 6:31937396-31937396
23 C2 NM_000063.6(C2):c.2201G>T (p.Arg734Leu) SNV Uncertain significance 356260 rs146067615 GRCh37: 6:31913076-31913076
GRCh38: 6:31945299-31945299
24 C2 NM_000063.6(C2):c.1716G>C (p.Lys572Asn) SNV Uncertain significance 356253 rs376278843 GRCh37: 6:31911569-31911569
GRCh38: 6:31943792-31943792
25 C2 NM_000063.6(C2):c.313G>A (p.Gly105Arg) SNV Uncertain significance 356244 rs886061292 GRCh37: 6:31896565-31896565
GRCh38: 6:31928788-31928788
26 C2 NM_000063.6(C2):c.1239G>C (p.Val413=) SNV Uncertain significance 356248 rs751253087 GRCh37: 6:31910755-31910755
GRCh38: 6:31942978-31942978
27 C2 NM_000063.6(C2):c.2253C>T (p.Pro751=) SNV Uncertain significance 356261 rs771797450 GRCh37: 6:31913128-31913128
GRCh38: 6:31945351-31945351
28 C2 NM_000063.6(C2):c.1602T>C (p.Leu534=) SNV Uncertain significance 356252 rs767886405 GRCh37: 6:31911455-31911455
GRCh38: 6:31943678-31943678
29 C2 NM_000063.6(C2):c.73C>T (p.Pro25Ser) SNV Uncertain significance 904584 GRCh37: 6:31895758-31895758
GRCh38: 6:31927981-31927981
30 C2 NM_000063.6(C2):c.109C>T (p.Leu37Phe) SNV Uncertain significance 904585 GRCh37: 6:31895794-31895794
GRCh38: 6:31928017-31928017
31 C2 NM_000063.6(C2):c.149C>T (p.Ser50Phe) SNV Uncertain significance 904586 GRCh37: 6:31895834-31895834
GRCh38: 6:31928057-31928057
32 C2-AS1 , C2 NM_000063.6(C2):c.980A>G (p.Asn327Ser) SNV Uncertain significance 904652 GRCh37: 6:31903830-31903830
GRCh38: 6:31936053-31936053
33 C2 NM_000063.6(C2):c.1613C>T (p.Ala538Val) SNV Uncertain significance 904727 GRCh37: 6:31911466-31911466
GRCh38: 6:31943689-31943689
34 C2 NM_000063.6(C2):c.*183C>T SNV Uncertain significance 356264 rs567255004 GRCh37: 6:31913317-31913317
GRCh38: 6:31945540-31945540
35 C2 NM_000063.6(C2):c.*286T>C SNV Uncertain significance 904797 GRCh37: 6:31913420-31913420
GRCh38: 6:31945643-31945643
36 C2 NM_000063.6(C2):c.245C>T (p.Ala82Val) SNV Uncertain significance 905372 GRCh37: 6:31895930-31895930
GRCh38: 6:31928153-31928153
37 C2 NM_000063.6(C2):c.283T>G (p.Phe95Val) SNV Uncertain significance 905373 GRCh37: 6:31896535-31896535
GRCh38: 6:31928758-31928758
38 C2 NM_000063.6(C2):c.337G>A (p.Val113Met) SNV Uncertain significance 905374 GRCh37: 6:31896589-31896589
GRCh38: 6:31928812-31928812
39 C2-AS1 , C2 NM_000063.6(C2):c.1082C>T (p.Thr361Met) SNV Uncertain significance 905441 GRCh37: 6:31905189-31905189
GRCh38: 6:31937412-31937412
40 C2-AS1 , C2 NM_000063.6(C2):c.1109C>T (p.Ala370Val) SNV Uncertain significance 905442 GRCh37: 6:31905216-31905216
GRCh38: 6:31937439-31937439
41 C2-AS1 , C2 NM_000063.6(C2):c.1169A>C (p.Asp390Ala) SNV Uncertain significance 905443 GRCh37: 6:31907047-31907047
GRCh38: 6:31939270-31939270
42 C2 NM_000063.6(C2):c.1902+5G>A SNV Uncertain significance 356255 rs201711512 GRCh37: 6:31912008-31912008
GRCh38: 6:31944231-31944231
43 C2 NM_000063.6(C2):c.1981G>A (p.Asp661Asn) SNV Uncertain significance 905517 GRCh37: 6:31912582-31912582
GRCh38: 6:31944805-31944805
44 C2 NM_000063.6(C2):c.1413C>T (p.Asn471=) SNV Uncertain significance 905958 GRCh37: 6:31911054-31911054
GRCh38: 6:31943277-31943277
45 CFB , C2 NM_000063.6(C2):c.1778G>A (p.Arg593Gln) SNV Likely benign 369520 rs150878060 GRCh37: 6:31911738-31911738
GRCh38: 6:31943961-31943961
46 C2 NM_000063.6(C2):c.218C>T (p.Pro73Leu) SNV Likely benign 356243 rs137902889 GRCh37: 6:31895903-31895903
GRCh38: 6:31928126-31928126
47 C2 NM_001178063.3(C2):c.74-6002A>C SNV Likely benign 356240 rs150299426 GRCh37: 6:31895385-31895385
GRCh38: 6:31927608-31927608
48 C2-AS1 , C2 NM_000063.6(C2):c.954G>C (p.Glu318Asp) SNV Likely benign 12130 rs9332739 GRCh37: 6:31903804-31903804
GRCh38: 6:31936027-31936027
49 C2 NM_000063.6(C2):c.443-4G>A SNV Likely benign 906981 GRCh37: 6:31901383-31901383
GRCh38: 6:31933606-31933606
50 CFB , C2 NM_000063.6(C2):c.1529G>A (p.Arg510His) SNV Likely benign 356251 rs45476300 GRCh37: 6:31911266-31911266
GRCh38: 6:31943489-31943489

Expression for Macular Degeneration, Age-Related, 14

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 14.

Pathways for Macular Degeneration, Age-Related, 14

GO Terms for Macular Degeneration, Age-Related, 14

Cellular components related to Macular Degeneration, Age-Related, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagophore assembly site GO:0000407 9.26 SQSTM1 BECN1
2 phagophore assembly site membrane GO:0034045 9.16 ATG5 ATG12
3 Atg12-Atg5-Atg16 complex GO:0034274 8.96 ATG5 ATG12
4 autophagosome GO:0005776 8.92 SQSTM1 BECN1 ATG5 ATG12

Biological processes related to Macular Degeneration, Age-Related, 14 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.83 SQSTM1 CFB C2 ATG5
2 apoptotic process GO:0006915 9.81 SQSTM1 CYCS BECN1 ATG5
3 response to drug GO:0042493 9.71 FOS BECN1 ATG5
4 negative regulation of protein ubiquitination GO:0031397 9.55 SQSTM1 ATG5
5 autophagosome assembly GO:0000045 9.5 BECN1 ATG5 ATG12
6 negative regulation of reactive oxygen species metabolic process GO:2000378 9.49 BECN1 ATG5
7 cellular response to nitrogen starvation GO:0006995 9.48 BECN1 ATG5
8 mitophagy GO:0000423 9.46 SQSTM1 BECN1
9 autophagy GO:0006914 9.46 SQSTM1 BECN1 ATG5 ATG12
10 autophagy of nucleus GO:0044804 9.43 ATG5 ATG12
11 aggrephagy GO:0035973 9.4 SQSTM1 ATG5
12 response to mitochondrial depolarisation GO:0098780 9.37 SQSTM1 BECN1
13 C-terminal protein lipidation GO:0006501 9.26 ATG5 ATG12
14 macroautophagy GO:0016236 9.26 SQSTM1 BECN1 ATG5 ATG12
15 autophagy of mitochondrion GO:0000422 8.92 SQSTM1 BECN1 ATG5 ATG12

Sources for Macular Degeneration, Age-Related, 14

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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