ARMD6
MCID: MCL036
MIFTS: 29

Macular Degeneration, Age-Related, 6 (ARMD6)

Categories: Blood diseases, Eye diseases, Genetic 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 tongue, 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 40)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 30.0 CFH CFB
2 macular degeneration, age-related, 1 28.3 STT3A SFTA3 ELOVL4 CFH CFB BEST1
3 stargardt macular degeneration 10.3 ELOVL4 ABCA4
4 interval angle-closure glaucoma 10.2 BEST1 ABCA4
5 bestrophinopathy, autosomal recessive 10.2 BEST1 ABCA4
6 retinitis pigmentosa 25 10.2 STT3A ELOVL4
7 macular dystrophy, dominant cystoid 10.2 BEST1 ABCA4
8 hereditary retinal dystrophy 10.1 ELOVL4 ABCA4
9 toxic maculopathy 10.1 CFH ABCA4
10 vitelliform macular dystrophy 10.1 ELOVL4 BEST1 ABCA4
11 choroid disease 10.0 BEST1 ABCA4
12 endophthalmitis 10.0
13 atypical hemolytic uremic syndrome with complement gene abnormality 10.0 CFH CFB
14 multifocal choroiditis 10.0 CFH CFB
15 choroiditis 10.0 CFH CFB
16 dense deposit disease 10.0 CFH CFB
17 genetic atypical hemolytic-uremic syndrome 10.0 CFH CFB
18 c3 glomerulopathy 10.0 CFH CFB
19 yemenite deaf-blind hypopigmentation syndrome 10.0 CFH ABCA4
20 enterocolitis 10.0 CFH CFB
21 nephrotic syndrome, type 7 10.0 CFH CFB
22 complement component 2 deficiency 9.9 CFH CFB
23 hairy tongue 9.8 TGM2 SFTA3
24 complement deficiency 9.7 CFH CFB
25 doyne honeycomb retinal dystrophy 9.7 ELOVL4 CFH BEST1 ABCA4
26 membranoproliferative glomerulonephritis 9.7 CFH CFB
27 cone-rod dystrophy 2 9.6 STT3A RAX2 BEST1 ABCA4
28 congenital stationary night blindness 9.6 STT3A SFTA3 ABCA4
29 achromatopsia 9.6 STT3A SFTA3 BEST1 ABCA4
30 basal laminar drusen 9.5 CFH CFB BEST1 ABCA4
31 severe pre-eclampsia 9.5 CFH CFB
32 retinal drusen 9.3 ELOVL4 CFH CFB BEST1 ABCA4
33 degeneration of macula and posterior pole 9.3 ELOVL4 CFH CFB BEST1 ABCA4
34 retinal disease 9.3 ELOVL4 CFH CFB BEST1 ABCA4
35 leber congenital amaurosis 9.2 STT3A SFTA3 RAX2 ELOVL4 BEST1 ABCA4
36 stargardt disease 9.0 STT3A SFTA3 ELOVL4 CFH BEST1 ABCA4
37 eye disease 8.9 SFTA3 RAX2 CFH CFB BEST1 ABCA4
38 fundus dystrophy 8.8 STT3A SFTA3 RAX2 ELOVL4 CFH BEST1
39 retinitis pigmentosa 8.8 STT3A SFTA3 RAX2 ELOVL4 CFH BEST1
40 macular degeneration, age-related, 4 7.0 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, Tongue

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. 56 6
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 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln)SNV Pathogenic 1240 rs121908280 19:3770914-3770914 19:3770916-3770916

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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