ARMD12
MCID: MCL051
MIFTS: 21

Macular Degeneration, Age-Related, 12 (ARMD12)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 12

MalaCards integrated aliases for Macular Degeneration, Age-Related, 12:

Name: Macular Degeneration, Age-Related, 12 57 72 13 70
Armd12 57 12 72
Age-Related Macular Degeneration 12 29 6
Macular Degeneration, Age-Related, Type 12 39
Age Related Macular Degeneration 12 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110024
OMIM® 57 613784
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C3151079
UMLS 70 C3151079

Summaries for Macular Degeneration, Age-Related, 12

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 12: 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, 12, also known as armd12, is related to macular degeneration, age-related, 1 and kuhnt-junius degeneration. An important gene associated with Macular Degeneration, Age-Related, 12 is CX3CR1 (C-X3-C Motif Chemokine Receptor 1). Affiliated tissues include eye.

Disease Ontology : 12 An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.

More information from OMIM: 613784 PS603075

Related Diseases for Macular Degeneration, Age-Related, 12

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 12:



Diseases related to Macular Degeneration, Age-Related, 12

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 12

Clinical features from OMIM®:

613784 (Updated 20-May-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 12

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 12

Genetic Tests for Macular Degeneration, Age-Related, 12

Genetic tests related to Macular Degeneration, Age-Related, 12:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 12 29 CX3CR1

Anatomical Context for Macular Degeneration, Age-Related, 12

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 12:

40
Eye

Publications for Macular Degeneration, Age-Related, 12

Articles related to Macular Degeneration, Age-Related, 12:

(showing 23, show less)
# Title Authors PMID Year
1
CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. 6 57
17909628 2007
2
The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. 57 6
15208270 2004
3
Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family. 6
23716478 2013
4
Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans. 6
12697743 2003
5
Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. 6
11264153 2001
6
Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1. 6
10731151 2000
7
Importance of continuous treatment with intravitreal aflibercept injections in patients with neovascular age-related macular degeneration-12-month post hoc analysis of the PERSEUS real-world evidence study. 61
32789651 2021
8
Safety and tolerability of ranibizumab in uni/bilateral neovascular age-related macular degeneration: 12-month TWEYEs study. 61
31079057 2020
9
Comments to: Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. 61
28430321 2017
10
Author's reply to comments to: Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. 61
28497459 2017
11
Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. 61
26868007 2016
12
Feasibility and clinical utility of ultra-widefield indocyanine green angiography. 61
25250480 2015
13
Intravitreal Aflibercept for Treatment-Resistant Neovascular Age-Related Macular Degeneration: 12-Month Safety and Efficacy Outcomes. 61
26637166 2015
14
Ranibizumab plus verteporfin photodynamic therapy in neovascular age-related macular degeneration: 12 months of retreatment and vision outcomes from a randomized study. 61
25471330 2015
15
Visual and anatomical outcomes following intravitreal aflibercept in eyes with recalcitrant neovascular age-related macular degeneration: 12-month results. 61
24833178 2014
16
Morphological changes in spectral domain optical coherence tomography guided bevacizumab injections in wet age-related macular degeneration, 12-months results. 61
24881600 2014
17
Prospective audit of exudative age-related macular degeneration: 12-month outcomes in treatment-naive eyes. 61
23821201 2013
18
16 and 24 Gy low-voltage X-ray irradiation with ranibizumab therapy for neovascular age-related macular degeneration: 12-month outcomes. 61
23497847 2013
19
The significance of early treatment of exudative age-related macular degeneration: 12 months' results. 61
23093324 2012
20
16 Gy low-voltage x-ray irradiation followed by as needed ranibizumab therapy for age-related macular degeneration: 12 month outcomes of a 'radiation-first' strategy. 61
22895887 2012
21
Subfoveal choroidal thickness after ranibizumab therapy for neovascular age-related macular degeneration: 12-month results. 61
22551738 2012
22
[Long-term clinical course after cataract surgery in patients with diabetes mellitus]. 61
23424763 2012
23
Morphologic and angiographic assessment of the macula after macular translocation surgery with 360 degrees retinotomy. 61
14644725 2003

Variations for Macular Degeneration, Age-Related, 12

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 12:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CX3CR1 NM_001337.4(CX3CR1):c.745G>A (p.Val249Ile) SNV risk factor 8152 rs3732379 GRCh37: 3:39307256-39307256
GRCh38: 3:39265765-39265765
2 CX3CR1 NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) SNV Uncertain significance 992523 GRCh37: 3:39323177-39323177
GRCh38: 3:39281686-39281686

Expression for Macular Degeneration, Age-Related, 12

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 12.

Pathways for Macular Degeneration, Age-Related, 12

GO Terms for Macular Degeneration, Age-Related, 12

Sources for Macular Degeneration, Age-Related, 12

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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