ARMD5
MCID: MCL077
MIFTS: 28

Macular Degeneration, Age-Related, 5 (ARMD5)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 5

MalaCards integrated aliases for Macular Degeneration, Age-Related, 5:

Name: Macular Degeneration, Age-Related, 5 57 72 70
Armd5 57 12 72
Age-Related Macular Degeneration 5 29 6
Macular Degeneration, Age-Related, Susceptibility to, 5 57
Macular Degeneration, Age-Related, Susceptibility to 5 13
Macular Degeneration, Age-Related, Type 5 39
Macular Degeneration, Age-Related 5 57
Age Related Macular Degeneration 5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110028
OMIM® 57 613761
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C3151063
UMLS 70 C3151063

Summaries for Macular Degeneration, Age-Related, 5

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 5: 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, 5, also known as armd5, is related to macular degeneration, age-related, 1 and uv-sensitive syndrome 1. An important gene associated with Macular Degeneration, Age-Related, 5 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include eye and retina.

Disease Ontology : 12 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.

More information from OMIM: 613761 PS603075

Related Diseases for Macular Degeneration, Age-Related, 5

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 5:



Diseases related to Macular Degeneration, Age-Related, 5

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 5

Clinical features from OMIM®:

613761 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 5

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 5

Genetic Tests for Macular Degeneration, Age-Related, 5

Genetic tests related to Macular Degeneration, Age-Related, 5:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 5 29 ERCC6

Anatomical Context for Macular Degeneration, Age-Related, 5

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 5:

40
Eye, Retina

Publications for Macular Degeneration, Age-Related, 5

Articles related to Macular Degeneration, Age-Related, 5:

(show all 14)
# Title Authors PMID Year
1
Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. 6 57
16754848 2006
2
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. 6
17854076 2008
3
Pursuit Of An Ideal Model For Community Eye Health - Non-Governmental Organisations (NGOs). 61
29634698 2017
4
[Ranibizumab and exudative age-related macular degeneration: 5-year multicentric functional and anatomical results in real-life practice]. 61
27609025 2016
5
INTRAVITREAL BEVACIZUMAB FOR CHOROIDAL NEOVASCULARIZATION IN AGE-RELATED MACULAR DEGENERATION: 5-Year Results of The Pan-American Collaborative Retina Study Group. 61
26529555 2016
6
Effects of Intravitreal Ranibizumab Injection on Chinese Patients with Wet Age-Related Macular Degeneration: 5-Year Follow-Up Results. 61
27885338 2016
7
ReGAE 10: long-term visual acuity outcomes after acute primary angle closure. 61
24522106 2014
8
[Polypoidal choroidal vasculopathy]. 61
22568102 2012
9
Treatment of peripheral exudative hemorrhagic chorioretinopathy by intravitreal injections of ranibizumab. 61
22791965 2012
10
Concentration of cytokines in the aqueous humor of patients with naive, recurrent and regressed CNV associated with amd after bevacizumab treatment. 61
19262441 2009
11
The importance of rheological parameters in the therapy of microcirculatory disorders. 61
19363239 2009
12
Verteporfin therapy of subfoveal choroidal neovascularization in age-related macular degeneration: 5-year results of two randomized clinical trials with an open-label extension: TAP report no. 8. 61
16538452 2006
13
[Early posterior capsule fibrosis after combined cataract and vitreoretinal surgery with intraocular air/SF6 gas tamponade]. 61
9592739 1998
14
[Detection of subretinal neovessels with indocyanine green videoangiography]. 61
9099292 1997

Variations for Macular Degeneration, Age-Related, 5

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 5:

6 (show top 50) (show all 161)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
2 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
3 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
4 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 430298 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
5 ERCC6 , ERCC6-PGBD3 NM_001277059.1(ERCC6):c.-76C>G SNV risk factor 1709 rs3793784 GRCh37: 10:50747539-50747539
GRCh38: 10:49539493-49539493
6 ERCC6 NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) SNV Uncertain significance 300050 rs771604820 GRCh37: 10:50678553-50678553
GRCh38: 10:49470507-49470507
7 ERCC6 NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) SNV Uncertain significance 300069 rs114490473 GRCh37: 10:50684306-50684306
GRCh38: 10:49476260-49476260
8 ERCC6 NM_000124.4(ERCC6):c.*900C>T SNV Uncertain significance 300019 rs189979670 GRCh37: 10:50665961-50665961
GRCh38: 10:49457915-49457915
9 ERCC6 NM_000124.4(ERCC6):c.*38A>G SNV Uncertain significance 300032 rs756639495 GRCh37: 10:50666823-50666823
GRCh38: 10:49458777-49458777
10 ERCC6 NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) SNV Uncertain significance 300062 rs116431130 GRCh37: 10:50681587-50681587
GRCh38: 10:49473541-49473541
11 ERCC6 NM_000124.4(ERCC6):c.*341A>G SNV Uncertain significance 300028 rs886047030 GRCh37: 10:50666520-50666520
GRCh38: 10:49458474-49458474
12 ERCC6 NM_000124.4(ERCC6):c.*645G>C SNV Uncertain significance 300023 rs886047026 GRCh37: 10:50666216-50666216
GRCh38: 10:49458170-49458170
13 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.-52G>A SNV Uncertain significance 300098 rs550772412 GRCh37: 10:50747045-50747045
GRCh38: 10:49538999-49538999
14 ERCC6 NM_000124.4(ERCC6):c.*1860A>G SNV Uncertain significance 300008 rs886047022 GRCh37: 10:50665001-50665001
GRCh38: 10:49456955-49456955
15 ERCC6 NM_000124.4(ERCC6):c.*1780T>C SNV Uncertain significance 300010 rs188228522 GRCh37: 10:50665081-50665081
GRCh38: 10:49457035-49457035
16 ERCC6 NM_000124.4(ERCC6):c.*388C>A SNV Uncertain significance 300026 rs886047029 GRCh37: 10:50666473-50666473
GRCh38: 10:49458427-49458427
17 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) SNV Uncertain significance 300082 rs886047038 GRCh37: 10:50732196-50732196
GRCh38: 10:49524150-49524150
18 ERCC6 NM_000124.4(ERCC6):c.*1112G>A SNV Uncertain significance 300016 rs186262133 GRCh37: 10:50665749-50665749
GRCh38: 10:49457703-49457703
19 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) SNV Uncertain significance 300091 rs766256094 GRCh37: 10:50732575-50732575
GRCh38: 10:49524529-49524529
20 ERCC6 NM_000124.4(ERCC6):c.3804C>T (p.His1268=) SNV Uncertain significance 300042 rs116032070 GRCh37: 10:50669577-50669577
GRCh38: 10:49461531-49461531
21 ERCC6 NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) SNV Uncertain significance 300065 rs200079929 GRCh37: 10:50682274-50682274
GRCh38: 10:49474228-49474228
22 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) SNV Uncertain significance 300093 rs886047039 GRCh37: 10:50736520-50736520
GRCh38: 10:49528474-49528474
23 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) SNV Uncertain significance 300088 rs141391984 GRCh37: 10:50732318-50732318
GRCh38: 10:49524272-49524272
24 ERCC6 NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) SNV Uncertain significance 300056 rs772104945 GRCh37: 10:50679117-50679117
GRCh38: 10:49471071-49471071
25 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) SNV Uncertain significance 300086 rs141391984 GRCh37: 10:50732318-50732318
GRCh38: 10:49524272-49524272
26 ERCC6 NM_000124.4(ERCC6):c.*1383T>G SNV Uncertain significance 300011 rs886047023 GRCh37: 10:50665478-50665478
GRCh38: 10:49457432-49457432
27 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.384C>T (p.Asp128=) SNV Uncertain significance 300094 rs146165518 GRCh37: 10:50740627-50740627
GRCh38: 10:49532581-49532581
28 ERCC6 NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) SNV Uncertain significance 300068 rs139913322 GRCh37: 10:50684278-50684278
GRCh38: 10:49476232-49476232
29 ERCC6 NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) SNV Uncertain significance 300078 rs150762517 GRCh37: 10:50713974-50713974
GRCh38: 10:49505928-49505928
30 ERCC6 NM_000124.4(ERCC6):c.*755A>G SNV Uncertain significance 300020 rs886047024 GRCh37: 10:50666106-50666106
GRCh38: 10:49458060-49458060
31 ERCC6 NM_000124.4(ERCC6):c.*751G>A SNV Uncertain significance 300021 rs886047025 GRCh37: 10:50666110-50666110
GRCh38: 10:49458064-49458064
32 ERCC6 NM_000124.4(ERCC6):c.*977A>G SNV Uncertain significance 300017 rs765959190 GRCh37: 10:50665884-50665884
GRCh38: 10:49457838-49457838
33 ERCC6 NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) SNV Uncertain significance 300057 rs886047035 GRCh37: 10:50680441-50680441
GRCh38: 10:49472395-49472395
34 ERCC6 NM_000124.4(ERCC6):c.*1933A>G SNV Uncertain significance 300006 rs748783305 GRCh37: 10:50664928-50664928
GRCh38: 10:49456882-49456882
35 ERCC6 NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) SNV Uncertain significance 300044 rs886047033 GRCh37: 10:50678370-50678370
GRCh38: 10:49470324-49470324
36 ERCC6 NM_000124.4(ERCC6):c.2829+11A>T SNV Uncertain significance 300058 rs777251839 GRCh37: 10:50680944-50680944
GRCh38: 10:49472898-49472898
37 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) SNV Uncertain significance 300090 rs764159237 GRCh37: 10:50732414-50732414
GRCh38: 10:49524368-49524368
38 ERCC6 NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) SNV Uncertain significance 300048 rs886047034 GRCh37: 10:50678526-50678526
GRCh38: 10:49470480-49470480
39 ERCC6 NM_000124.4(ERCC6):c.2287-4G>A SNV Uncertain significance 300071 rs375617750 GRCh37: 10:50684360-50684360
GRCh38: 10:49476314-49476314
40 ERCC6 NM_000124.4(ERCC6):c.*681G>A SNV Uncertain significance 300022 rs547014227 GRCh37: 10:50666180-50666180
GRCh38: 10:49458134-49458134
41 ERCC6 NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) SNV Uncertain significance 300066 rs142641602 GRCh37: 10:50682280-50682280
GRCh38: 10:49474234-49474234
42 ERCC6 NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) SNV Uncertain significance 300038 rs755854972 GRCh37: 10:50667132-50667132
GRCh38: 10:49459086-49459086
43 ERCC6 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) SNV Uncertain significance 193557 rs148845653 GRCh37: 10:50690854-50690854
GRCh38: 10:49482808-49482808
44 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.-107A>G SNV Uncertain significance 300103 rs886047042 GRCh37: 10:50747100-50747100
GRCh38: 10:49539054-49539054
45 ERCC6 NM_000124.4(ERCC6):c.2287-3T>C SNV Uncertain significance 300070 rs780652533 GRCh37: 10:50684359-50684359
GRCh38: 10:49476313-49476313
46 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) SNV Uncertain significance 190174 rs150935953 GRCh37: 10:50732806-50732806
GRCh38: 10:49524760-49524760
47 ERCC6 NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) SNV Uncertain significance 300079 rs139161933 GRCh37: 10:50714020-50714020
GRCh38: 10:49505974-49505974
48 ERCC6 NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) SNV Uncertain significance 300073 rs369437807 GRCh37: 10:50690777-50690777
GRCh38: 10:49482731-49482731
49 ERCC6 NM_000124.4(ERCC6):c.*482C>A SNV Uncertain significance 300025 rs886047028 GRCh37: 10:50666379-50666379
GRCh38: 10:49458333-49458333
50 ERCC6 NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) SNV Uncertain significance 300045 rs374791168 GRCh37: 10:50678412-50678412
GRCh38: 10:49470366-49470366

Expression for Macular Degeneration, Age-Related, 5

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 5.

Pathways for Macular Degeneration, Age-Related, 5

GO Terms for Macular Degeneration, Age-Related, 5

Cellular components related to Macular Degeneration, Age-Related, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 PGBD3 ERCC6

Molecular functions related to Macular Degeneration, Age-Related, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 PGBD3 ERCC6

Sources for Macular Degeneration, Age-Related, 5

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
Content
Loading form....