ARMD6
MCID: MCL036
MIFTS: 31

Macular Degeneration, Age-Related, 6 (ARMD6)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 6

MalaCards integrated aliases for Macular Degeneration, Age-Related, 6:

Name: Macular Degeneration, Age-Related, 6 57 72 13 70
Armd6 57 12 72
Age Related Macular Degeneration 6 12 15
Age-Related Macular Degeneration 6 29 6
Macular Degeneration, Age-Related, Type 6 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110018
OMIM® 57 613757
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C3151060
SNOMED-CT via HPO 68 422338006
UMLS 70 C3151060

Summaries for Macular Degeneration, Age-Related, 6

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 6: 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, 6, also known as armd6, is related to kuhnt-junius degeneration and macular degeneration, age-related, 1. An important gene associated with Macular Degeneration, Age-Related, 6 is RAX2 (Retina And Anterior Neural Fold Homeobox 2). Affiliated tissues include eye, and related phenotypes are macular degeneration and pigmentation

Disease Ontology : 12 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.

More information from OMIM: 613757 PS603075

Related Diseases for Macular Degeneration, Age-Related, 6

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 30.0 CFH CFB
2 macular degeneration, age-related, 1 29.0 SFTA3 ELOVL4 CFH CFB BEST1 ABCA4
3 stargardt macular degeneration 10.2 ELOVL4 ABCA4
4 stargardt disease 3 10.2 ELOVL4 ABCA4
5 interval angle-closure glaucoma 10.1 BEST1 ABCA4
6 nonsyndromic retinitis pigmentosa 10.1 BEST1 ABCA4
7 chorioretinal scar 10.1 BEST1 ABCA4
8 retinitis pigmentosa 19 10.1 ELOVL4 ABCA4
9 peripheral retinal degeneration 10.1 BEST1 ABCA4
10 macular dystrophy, dominant cystoid 10.1 BEST1 ABCA4
11 isolated macular dystrophy 10.1 BEST1 ABCA4
12 microvascular complications of diabetes 5 10.1
13 endophthalmitis 10.1
14 bestrophinopathy, autosomal recessive 10.1 BEST1 ABCA4
15 choroid disease 10.1 BEST1 ABCA4
16 gyrate atrophy of choroid and retina 10.0 BEST1 ABCA4
17 optic nerve hypoplasia, bilateral 10.0 BEST1 ABCA4
18 vitreoretinochoroidopathy 10.0 ELOVL4 BEST1 ABCA4
19 hereditary retinal dystrophy 10.0 ELOVL4 BEST1 ABCA4
20 late-onset retinal degeneration 10.0 ELOVL4 BEST1 ABCA4
21 retinal degeneration 10.0 ELOVL4 BEST1 ABCA4
22 fundus albipunctatus 10.0 ELOVL4 BEST1 ABCA4
23 choroideremia 9.9 BEST1 ABCA4
24 retinoschisis 1, x-linked, juvenile 9.9 BEST1 ABCA4
25 stargardt disease 1 9.9 BEST1 ABCA4
26 macular retinal edema 9.9 CFH BEST1
27 yemenite deaf-blind hypopigmentation syndrome 9.9 CFH ABCA4
28 achromatopsia 9.8 SFTA3 BEST1 ABCA4
29 atypical hemolytic uremic syndrome with complement gene abnormality 9.8 CFH CFB
30 multifocal choroiditis 9.8 CFH CFB
31 dense deposit disease 9.8 CFH CFB
32 genetic atypical hemolytic-uremic syndrome 9.8 CFH CFB
33 hemolytic-uremic syndrome 9.8 CFH CFB
34 c3 glomerulopathy 9.8 CFH CFB
35 congenital stationary night blindness 9.8 SFTA3 BEST1 ABCA4
36 cone dystrophy 9.8 SFTA3 BEST1 ABCA4
37 enterocolitis 9.8 CFH CFB
38 cone-rod dystrophy 6 9.7 BEST1 ABCA4
39 complement component 2 deficiency 9.7 CFH CFB
40 methylmalonic aciduria and homocystinuria, cblc type 9.7 CFH CFB
41 complement deficiency 9.7 CFH CFB
42 usher syndrome 9.7 SFTA3 BEST1 ABCA4
43 membranoproliferative glomerulonephritis 9.7 CFH CFB
44 severe pre-eclampsia 9.7 CFH CFB
45 sensory system disease 9.7 CFH BEST1 ABCA4
46 choroiditis 9.6 CFH CFB ABCA4
47 doyne honeycomb retinal dystrophy 9.5 ELOVL4 CFH BEST1 ABCA4
48 leber plus disease 9.5 SFTA3 RAX2 ELOVL4 BEST1 ABCA4
49 cone-rod dystrophy 2 9.5 SFTA3 RAX2 ELOVL4 BEST1 ABCA4
50 basal laminar drusen 9.4 CFH CFB BEST1 ABCA4

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 6:



Diseases related to Macular Degeneration, Age-Related, 6

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 6

Human phenotypes related to Macular Degeneration, Age-Related, 6:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 HP:0000608

Clinical features from OMIM®:

613757 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ABCA4 BEST1 CFH ELOVL4

Drugs & Therapeutics for Macular Degeneration, Age-Related, 6

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 6

Genetic Tests for Macular Degeneration, Age-Related, 6

Genetic tests related to Macular Degeneration, Age-Related, 6:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 6 29 RAX2

Anatomical Context for Macular Degeneration, Age-Related, 6

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 6:

40
Eye

Publications for Macular Degeneration, Age-Related, 6

Articles related to Macular Degeneration, Age-Related, 6:

# Title Authors PMID Year
1
QRX, a novel homeobox gene, modulates photoreceptor gene expression. 6 57
15028672 2004
2
Surgery for bilateral macular holes. 61
18388963 2009
3
[Photodynamic therapy with visudine in combination with intravitreal kenalog in the treatment of choroidal neovascularization]. 61
19284105 2009
4
Intravitreal bevacizumab (Avastin) therapy versus photodynamic therapy plus intravitreal triamcinolone for neovascular age-related macular degeneration: 6-month results of a prospective, randomised, controlled clinical study. 61
18303156 2008
5
Intravitreal bevacizumab in the treatment of neovascular age-related macular degeneration, 6- and 9-month results. 61
17891059 2008
6
Intravitreal bevacizumab therapy for choroidal neovascularization secondary to age-related macular degeneration: 6-month results of an open-label uncontrolled clinical study. 61
17415697 2007
7
[Results of transpupillary thermotherapy by patients with age-related macular degeneration 6 months after treatment (pilot study)]. 61
16922162 2005
8
[Detection of subretinal neovessels with indocyanine green videoangiography]. 61
9099292 1997

Variations for Macular Degeneration, Age-Related, 6

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 6:

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln) SNV Uncertain significance 1240 rs121908280 GRCh37: 19:3770914-3770914
GRCh38: 19:3770916-3770916
2 RAX2 NM_032753.4(RAX2):c.76A>C (p.Lys26Gln) SNV Uncertain significance 328971 rs370364475 GRCh37: 19:3771665-3771665
GRCh38: 19:3771667-3771667
3 RAX2 NM_032753.4(RAX2):c.19G>A (p.Glu7Lys) SNV Uncertain significance 328972 rs556179949 GRCh37: 19:3771722-3771722
GRCh38: 19:3771724-3771724
4 RAX2 NM_032753.4(RAX2):c.*624G>A SNV Uncertain significance 328959 rs886054368 GRCh37: 19:3769995-3769995
GRCh38: 19:3769997-3769997
5 RAX2 NM_032753.4(RAX2):c.217-8C>A SNV Uncertain significance 328967 rs79588413 GRCh37: 19:3770965-3770965
GRCh38: 19:3770967-3770967
6 RAX2 NM_032753.4(RAX2):c.*88C>T SNV Uncertain significance 328963 rs886054369 GRCh37: 19:3770531-3770531
GRCh38: 19:3770533-3770533
7 RAX2 NM_032753.4(RAX2):c.*949C>T SNV Uncertain significance 328950 rs886054367 GRCh37: 19:3769670-3769670
GRCh38: 19:3769672-3769672
8 RAX2 NM_032753.4(RAX2):c.*7C>T SNV Uncertain significance 328965 rs781395665 GRCh37: 19:3770612-3770612
GRCh38: 19:3770614-3770614
9 RAX2 NM_032753.4(RAX2):c.432G>A (p.Ala144=) SNV Uncertain significance 262101 rs149918940 GRCh37: 19:3770742-3770742
GRCh38: 19:3770744-3770744
10 RAX2 NM_032753.4(RAX2):c.*1483C>T SNV Uncertain significance 328941 rs886054363 GRCh37: 19:3769136-3769136
GRCh38: 19:3769138-3769138
11 RAX2 NM_032753.4(RAX2):c.*972T>A SNV Uncertain significance 328949 rs886054366 GRCh37: 19:3769647-3769647
GRCh38: 19:3769649-3769649
12 RAX2 NM_032753.4(RAX2):c.-60C>A SNV Uncertain significance 328978 rs886054371 GRCh37: 19:3772211-3772211
GRCh38: 19:3772213-3772213
13 RAX2 NM_032753.4(RAX2):c.-27G>T SNV Uncertain significance 328976 rs563046576 GRCh37: 19:3772178-3772178
GRCh38: 19:3772180-3772180
14 RAX2 NM_032753.4(RAX2):c.-10+8C>T SNV Uncertain significance 328973 rs886054370 GRCh37: 19:3772153-3772153
GRCh38: 19:3772155-3772155
15 RAX2 NM_032753.4(RAX2):c.*1523T>C SNV Uncertain significance 328940 rs775609621 GRCh37: 19:3769096-3769096
GRCh38: 19:3769098-3769098
16 RAX2 NM_032753.4(RAX2):c.83G>A (p.Arg28Gln) SNV Uncertain significance 328970 rs199546013 GRCh37: 19:3771658-3771658
GRCh38: 19:3771660-3771660
17 RAX2 NM_001319074.4(RAX2):c.*918G>A SNV Uncertain significance 888997 GRCh37: 19:3769701-3769701
GRCh38: 19:3769703-3769703
18 RAX2 NM_001319074.4(RAX2):c.*897C>T SNV Uncertain significance 888998 GRCh37: 19:3769722-3769722
GRCh38: 19:3769724-3769724
19 RAX2 NM_001319074.4(RAX2):c.*552C>T SNV Uncertain significance 889062 GRCh37: 19:3770067-3770067
GRCh38: 19:3770069-3770069
20 RAX2 NM_001319074.4(RAX2):c.*501C>T SNV Uncertain significance 889063 GRCh37: 19:3770118-3770118
GRCh38: 19:3770120-3770120
21 RAX2 NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu) SNV Uncertain significance 889122 GRCh37: 19:3770761-3770761
GRCh38: 19:3770763-3770763
22 RAX2 NM_001319074.4(RAX2):c.385G>A (p.Val129Met) SNV Uncertain significance 889123 GRCh37: 19:3770789-3770789
GRCh38: 19:3770791-3770791
23 RAX2 NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu) SNV Uncertain significance 889124 GRCh37: 19:3770854-3770854
GRCh38: 19:3770856-3770856
24 RAX2 NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg) SNV Uncertain significance 889200 GRCh37: 19:3771692-3771692
GRCh38: 19:3771694-3771694
25 RAX2 NM_001319074.4(RAX2):c.*784C>T SNV Uncertain significance 889690 GRCh37: 19:3769835-3769835
GRCh38: 19:3769837-3769837
26 RAX2 NM_001319074.4(RAX2):c.*776C>T SNV Uncertain significance 889691 GRCh37: 19:3769843-3769843
GRCh38: 19:3769845-3769845
27 RAX2 NM_001319074.4(RAX2):c.*368C>T SNV Uncertain significance 889754 GRCh37: 19:3770251-3770251
GRCh38: 19:3770253-3770253
28 RAX2 NM_001319074.4(RAX2):c.*263C>T SNV Uncertain significance 889755 GRCh37: 19:3770356-3770356
GRCh38: 19:3770358-3770358
29 RAX2 NM_001319074.4(RAX2):c.*248C>T SNV Uncertain significance 889756 GRCh37: 19:3770371-3770371
GRCh38: 19:3770373-3770373
30 RAX2 NM_001319074.4(RAX2):c.*201C>T SNV Uncertain significance 889757 GRCh37: 19:3770418-3770418
GRCh38: 19:3770420-3770420
31 RAX2 NM_001319074.4(RAX2):c.-275G>A SNV Uncertain significance 889884 GRCh37: 19:3772167-3772167
GRCh38: 19:3772169-3772169
32 RAX2 NM_001319074.4(RAX2):c.*1490A>G SNV Uncertain significance 890643 GRCh37: 19:3769129-3769129
GRCh38: 19:3769131-3769131
33 RAX2 NM_001319074.4(RAX2):c.*751G>A SNV Uncertain significance 891248 GRCh37: 19:3769868-3769868
GRCh38: 19:3769870-3769870
34 RAX2 NM_001319074.4(RAX2):c.*687A>G SNV Uncertain significance 891249 GRCh37: 19:3769932-3769932
GRCh38: 19:3769934-3769934
35 RAX2 NM_001319074.4(RAX2):c.*195G>A SNV Uncertain significance 891296 GRCh37: 19:3770424-3770424
GRCh38: 19:3770426-3770426
36 RAX2 NM_001319074.4(RAX2):c.*194C>G SNV Uncertain significance 891297 GRCh37: 19:3770425-3770425
GRCh38: 19:3770427-3770427
37 RAX2 NM_001319074.4(RAX2):c.217-11G>C SNV Uncertain significance 891363 GRCh37: 19:3770968-3770968
GRCh38: 19:3770970-3770970
38 RAX2 NM_001319074.4(RAX2):c.*667G>A SNV Uncertain significance 892438 GRCh37: 19:3769952-3769952
GRCh38: 19:3769954-3769954
39 RAX2 NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly) SNV Uncertain significance 892494 GRCh37: 19:3770639-3770639
GRCh38: 19:3770641-3770641
40 RAX2 NM_001319074.4(RAX2):c.446A>G (p.His149Arg) SNV Uncertain significance 892495 GRCh37: 19:3770728-3770728
GRCh38: 19:3770730-3770730
41 RAX2 NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) SNV Uncertain significance 892559 GRCh37: 19:3771607-3771607
GRCh38: 19:3771609-3771609
42 RAX2 NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln) SNV Uncertain significance 892560 GRCh37: 19:3771610-3771610
GRCh38: 19:3771612-3771612
43 RAX2 NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln) SNV Uncertain significance 834258 GRCh37: 19:3770938-3770938
GRCh38: 19:3770940-3770940
44 RAX2 NM_032753.4(RAX2):c.282C>T (p.Ala94=) SNV Likely benign 328966 rs201021639 GRCh37: 19:3770892-3770892
GRCh38: 19:3770894-3770894
45 RAX2 NM_001319074.4(RAX2):c.*1169G>A SNV Likely benign 891193 GRCh37: 19:3769450-3769450
GRCh38: 19:3769452-3769452
46 RAX2 NM_032753.4(RAX2):c.156G>A (p.Pro52=) SNV Likely benign 328969 rs141804618 GRCh37: 19:3771585-3771585
GRCh38: 19:3771587-3771587
47 RAX2 NM_032753.4(RAX2):c.*679C>T SNV Likely benign 328958 rs576669713 GRCh37: 19:3769940-3769940
GRCh38: 19:3769942-3769942
48 RAX2 NM_032753.4(RAX2):c.*45C>T SNV Likely benign 328964 rs139146360 GRCh37: 19:3770574-3770574
GRCh38: 19:3770576-3770576
49 RAX2 NM_032753.4(RAX2):c.*191C>T SNV Likely benign 328962 rs150808899 GRCh37: 19:3770428-3770428
GRCh38: 19:3770430-3770430
50 RAX2 NM_032753.4(RAX2):c.-22G>A SNV Likely benign 328975 rs182965071 GRCh37: 19:3772173-3772173
GRCh38: 19:3772175-3772175

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 6:

72
# Symbol AA change Variation ID SNP ID
1 RAX2 p.Arg87Gln VAR_031907 rs121908280

Expression for Macular Degeneration, Age-Related, 6

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 6.

Pathways for Macular Degeneration, Age-Related, 6

GO Terms for Macular Degeneration, Age-Related, 6

Biological processes related to Macular Degeneration, Age-Related, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.13 RAX2 BEST1 ABCA4
2 complement activation, alternative pathway GO:0006957 8.62 CFH CFB

Sources for Macular Degeneration, Age-Related, 6

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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