ARMD6
MCID: MCL036
MIFTS: 33

Macular Degeneration, Age-Related, 6 (ARMD6)

Categories: Blood diseases, Eye diseases, Genetic 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 56 73 13 71
Armd6 56 12 73
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 56 613757
OMIM Phenotypic Series 56 PS603075
MeSH 43 D008268
MedGen 41 C3151060
SNOMED-CT via HPO 68 422338006
UMLS 71 C3151060

Summaries for Macular Degeneration, Age-Related, 6

UniProtKB/Swiss-Prot : 73 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 Increased number of mitotic cells

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 all 46)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 29.6 CFH CFB
2 macular degeneration, age-related, 1 27.9 STT3A SFTA3 ELOVL4 CFH CFB BEST1
3 stargardt macular degeneration 10.3 ELOVL4 ABCA4
4 retinitis pigmentosa 19 10.2 ELOVL4 ABCA4
5 chorioretinal scar 10.2 BEST1 ABCA4
6 interval angle-closure glaucoma 10.2 BEST1 ABCA4
7 bestrophinopathy, autosomal recessive 10.2 BEST1 ABCA4
8 macular dystrophy, dominant cystoid 10.2 BEST1 ABCA4
9 choroid disease 10.1 BEST1 ABCA4
10 color blindness 10.1 STT3A ABCA4
11 vitreoretinochoroidopathy 10.1 ELOVL4 BEST1 ABCA4
12 retinoschisis 1, x-linked, juvenile 10.1 BEST1 ABCA4
13 hereditary retinal dystrophy 10.1 ELOVL4 BEST1 ABCA4
14 vitelliform macular dystrophy 10.1 ELOVL4 BEST1 ABCA4
15 fundus albipunctatus 10.0 ELOVL4 BEST1 ABCA4
16 endophthalmitis 10.0
17 optic nerve hypoplasia, bilateral 10.0 BEST1 ABCA4
18 yemenite deaf-blind hypopigmentation syndrome 9.8 CFH ABCA4
19 atypical hemolytic uremic syndrome with complement gene abnormality 9.8 CFH CFB
20 multifocal choroiditis 9.8 CFH CFB
21 dense deposit disease 9.8 CFH CFB
22 genetic atypical hemolytic-uremic syndrome 9.8 CFH CFB
23 c3 glomerulopathy 9.8 CFH CFB
24 enterocolitis 9.8 CFH CFB
25 methylmalonic aciduria and homocystinuria, cblc type 9.7 CFH CFB
26 complement component 2 deficiency 9.7 CFH CFB
27 cone-rod dystrophy 2 9.6 STT3A RAX2 BEST1 ABCA4
28 complement deficiency 9.6 CFH CFB
29 achromatopsia 9.6 STT3A SFTA3 BEST1 ABCA4
30 congenital stationary night blindness 9.6 STT3A SFTA3 BEST1 ABCA4
31 choroiditis 9.6 CFH CFB ABCA4
32 doyne honeycomb retinal dystrophy 9.5 ELOVL4 CFH BEST1 ABCA4
33 membranoproliferative glomerulonephritis 9.4 CFH CFB
34 basal laminar drusen 9.3 CFH CFB BEST1 ABCA4
35 severe pre-eclampsia 9.3 CFH CFB
36 leber plus disease 9.2 STT3A SFTA3 RAX2 ELOVL4 BEST1 ABCA4
37 retinal drusen 9.1 ELOVL4 CFH CFB BEST1 ABCA4
38 degeneration of macula and posterior pole 9.1 ELOVL4 CFH CFB BEST1 ABCA4
39 retinal disease 9.1 ELOVL4 CFH CFB BEST1 ABCA4
40 diarrhea 9.0 TGM2 CFH CFB
41 stargardt disease 8.8 STT3A SFTA3 ELOVL4 CFH BEST1 ABCA4
42 eye disease 8.7 SFTA3 RAX2 CFH CFB BEST1 ABCA4
43 retinitis pigmentosa 8.5 STT3A SFTA3 RAX2 ELOVL4 CFH BEST1
44 eye degenerative disease 8.5 STT3A SFTA3 ELOVL4 CFH CFB BEST1
45 fundus dystrophy 8.2 STT3A SFTA3 RAX2 ELOVL4 CFH CFB
46 macular degeneration, age-related, 4 7.1 TGM2 SURF4 STT3A SFTA3 ELOVL4 CKAP5

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

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 8.8 BEST1 CKAP5 STT3A

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

45
# 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:

(show all 13)
# Title Authors PMID Year
1
QRX, a novel homeobox gene, modulates photoreceptor gene expression. 56 6
15028672 2004
2
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 6
23972322 2013
3
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 6
20843825 2010
4
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. 6
18006700 2008
5
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. 6
17367211 2007
6
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 6
16998489 2006
7
Surgery for bilateral macular holes. 61
18388963 2009
8
[Photodynamic therapy with visudine in combination with intravitreal kenalog in the treatment of choroidal neovascularization]. 61
19284105 2009
9
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
10
Intravitreal bevacizumab in the treatment of neovascular age-related macular degeneration, 6- and 9-month results. 61
17891059 2008
11
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
12
[Results of transpupillary thermotherapy by patients with age-related macular degeneration 6 months after treatment (pilot study)]. 61
16922162 2005
13
[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 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAX2 NM_001319074.4(RAX2):c.385G>A (p.Val129Met)SNV Conflicting interpretations of pathogenicity 889123 19:3770789-3770789 19:3770791-3770791
2 RAX2 NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln)SNV Conflicting interpretations of pathogenicity 892560 19:3771610-3771610 19:3771612-3771612
3 RAX2 NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg)SNV Conflicting interpretations of pathogenicity 889200 19:3771692-3771692 19:3771694-3771694
4 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln)SNV Conflicting interpretations of pathogenicity 1240 rs121908280 19:3770914-3770914 19:3770916-3770916
5 RAX2 NM_032753.4(RAX2):c.432G>A (p.Ala144=)SNV Conflicting interpretations of pathogenicity 262101 rs149918940 19:3770742-3770742 19:3770744-3770744
6 RAX2 NM_032753.4(RAX2):c.156G>A (p.Pro52=)SNV Conflicting interpretations of pathogenicity 328969 rs141804618 19:3771585-3771585 19:3771587-3771587
7 RAX2 NM_032753.4(RAX2):c.19G>A (p.Glu7Lys)SNV Conflicting interpretations of pathogenicity 328972 rs556179949 19:3771722-3771722 19:3771724-3771724
8 RAX2 NM_032753.4(RAX2):c.76A>C (p.Lys26Gln)SNV Conflicting interpretations of pathogenicity 328971 rs370364475 19:3771665-3771665 19:3771667-3771667
9 RAX2 NM_032753.4(RAX2):c.-27G>TSNV Uncertain significance 328976 rs563046576 19:3772178-3772178 19:3772180-3772180
10 RAX2 NM_032753.4(RAX2):c.-60C>ASNV Uncertain significance 328978 rs886054371 19:3772211-3772211 19:3772213-3772213
11 RAX2 NM_032753.4(RAX2):c.*1523T>CSNV Uncertain significance 328940 rs775609621 19:3769096-3769096 19:3769098-3769098
12 RAX2 NM_032753.4(RAX2):c.-10+8C>TSNV Uncertain significance 328973 rs886054370 19:3772153-3772153 19:3772155-3772155
13 RAX2 NM_032753.4(RAX2):c.*624G>ASNV Uncertain significance 328959 rs886054368 19:3769995-3769995 19:3769997-3769997
14 RAX2 NM_032753.4(RAX2):c.*972T>ASNV Uncertain significance 328949 rs886054366 19:3769647-3769647 19:3769649-3769649
15 RAX2 NM_032753.4(RAX2):c.*88C>TSNV Uncertain significance 328963 rs886054369 19:3770531-3770531 19:3770533-3770533
16 RAX2 NM_032753.4(RAX2):c.*7C>TSNV Uncertain significance 328965 rs781395665 19:3770612-3770612 19:3770614-3770614
17 RAX2 NM_032753.4(RAX2):c.217-8C>ASNV Uncertain significance 328967 rs79588413 19:3770965-3770965 19:3770967-3770967
18 RAX2 NM_032753.4(RAX2):c.83G>A (p.Arg28Gln)SNV Uncertain significance 328970 rs199546013 19:3771658-3771658 19:3771660-3771660
19 RAX2 NM_032753.4(RAX2):c.*1483C>TSNV Uncertain significance 328941 rs886054363 19:3769136-3769136 19:3769138-3769138
20 RAX2 NM_032753.4(RAX2):c.*949C>TSNV Uncertain significance 328950 rs886054367 19:3769670-3769670 19:3769672-3769672
21 RAX2 NM_001319074.4(RAX2):c.-275G>ASNV Uncertain significance 889884 19:3772167-3772167 19:3772169-3772169
22 RAX2 NM_001319074.4(RAX2):c.217-11G>CSNV Uncertain significance 891363 19:3770968-3770968 19:3770970-3770970
23 RAX2 NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu)SNV Uncertain significance 889124 19:3770854-3770854 19:3770856-3770856
24 RAX2 NM_001319074.4(RAX2):c.134C>T (p.Ala45Val)SNV Uncertain significance 892559 19:3771607-3771607 19:3771609-3771609
25 RAX2 NM_001319074.4(RAX2):c.*1490A>GSNV Uncertain significance 890643 19:3769129-3769129 19:3769131-3769131
26 RAX2 NM_001319074.4(RAX2):c.*918G>ASNV Uncertain significance 888997 19:3769701-3769701 19:3769703-3769703
27 RAX2 NM_001319074.4(RAX2):c.*897C>TSNV Uncertain significance 888998 19:3769722-3769722 19:3769724-3769724
28 RAX2 NM_001319074.4(RAX2):c.*784C>TSNV Uncertain significance 889690 19:3769835-3769835 19:3769837-3769837
29 RAX2 NM_001319074.4(RAX2):c.*776C>TSNV Uncertain significance 889691 19:3769843-3769843 19:3769845-3769845
30 RAX2 NM_001319074.4(RAX2):c.*751G>ASNV Uncertain significance 891248 19:3769868-3769868 19:3769870-3769870
31 RAX2 NM_001319074.4(RAX2):c.*687A>GSNV Uncertain significance 891249 19:3769932-3769932 19:3769934-3769934
32 RAX2 NM_001319074.4(RAX2):c.*667G>ASNV Uncertain significance 892438 19:3769952-3769952 19:3769954-3769954
33 RAX2 NM_001319074.4(RAX2):c.*552C>TSNV Uncertain significance 889062 19:3770067-3770067 19:3770069-3770069
34 RAX2 NM_001319074.4(RAX2):c.*501C>TSNV Uncertain significance 889063 19:3770118-3770118 19:3770120-3770120
35 RAX2 NM_001319074.4(RAX2):c.*368C>TSNV Uncertain significance 889754 19:3770251-3770251 19:3770253-3770253
36 RAX2 NM_001319074.4(RAX2):c.*263C>TSNV Uncertain significance 889755 19:3770356-3770356 19:3770358-3770358
37 RAX2 NM_001319074.4(RAX2):c.*248C>TSNV Uncertain significance 889756 19:3770371-3770371 19:3770373-3770373
38 RAX2 NM_001319074.4(RAX2):c.*201C>TSNV Uncertain significance 889757 19:3770418-3770418 19:3770420-3770420
39 RAX2 NM_001319074.4(RAX2):c.*195G>ASNV Uncertain significance 891296 19:3770424-3770424 19:3770426-3770426
40 RAX2 NM_001319074.4(RAX2):c.*194C>GSNV Uncertain significance 891297 19:3770425-3770425 19:3770427-3770427
41 RAX2 NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)SNV Uncertain significance 892494 19:3770639-3770639 19:3770641-3770641
42 RAX2 NM_001319074.4(RAX2):c.446A>G (p.His149Arg)SNV Uncertain significance 892495 19:3770728-3770728 19:3770730-3770730
43 RAX2 NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)SNV Uncertain significance 889122 19:3770761-3770761 19:3770763-3770763
44 RAX2 NM_001319074.4(RAX2):c.*1169G>ASNV Benign/Likely benign 891193 19:3769450-3769450 19:3769452-3769452
45 RAX2 NM_032753.4(RAX2):c.*1054C>TSNV Benign/Likely benign 328948 rs368356816 19:3769565-3769565 19:3769567-3769567
46 RAX2 NM_032753.4(RAX2):c.*45C>TSNV Benign/Likely benign 328964 rs139146360 19:3770574-3770574 19:3770576-3770576
47 RAX2 NM_032753.4(RAX2):c.*191C>TSNV Benign/Likely benign 328962 rs150808899 19:3770428-3770428 19:3770430-3770430
48 RAX2 NM_032753.4(RAX2):c.217-10C>TSNV Benign/Likely benign 328968 rs772762463 19:3770967-3770967 19:3770969-3770969
49 RAX2 NM_032753.4(RAX2):c.-11C>TSNV Benign/Likely benign 328974 rs776666200 19:3772162-3772162 19:3772164-3772164
50 RAX2 NM_032753.4(RAX2):c.-22G>ASNV Benign/Likely benign 328975 rs182965071 19:3772173-3772173 19:3772175-3772175

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

73
# 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

Cellular components related to Macular Degeneration, Age-Related, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.02 TGM2 SURF4 STT3A ELOVL4 ABCA4

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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