ARMD12
MCID: MCL051
MIFTS: 21

Macular Degeneration, Age-Related, 12 (ARMD12)

Categories: Eye diseases, Genetic 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 75 13 73
Armd12 57 12 75
Macular Degeneration, Age-Related, 12, Susceptibility to 6
Macular Degeneration, Age-Related, Type 12 40
Age Related Macular Degeneration 12 12
Age-Related Macular Degeneration 12 29

Classifications:



External Ids:

OMIM 57 613784
Disease Ontology 12 DOID:0110024
MedGen 42 C3151079
MeSH 44 D008268
UMLS 73 C3151079

Summaries for Macular Degeneration, Age-Related, 12

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 613784

Related Diseases for Macular Degeneration, Age-Related, 12

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

Clinical features from OMIM:

613784

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:

41
Eye

Publications for Macular Degeneration, Age-Related, 12

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

# Title Authors Year
1
Comments to: Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. ( 28430321 )
2017
2
Author's reply to comments to: Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. ( 28497459 )
2017
3
Visual and anatomic outcomes after conversion to aflibercept in neovascular age-related macular degeneration: 12-month results. ( 26868007 )
2016
4
Intravitreal Aflibercept for Treatment-Resistant Neovascular Age-Related Macular Degeneration: 12-Month Safety and Efficacy Outcomes. ( 26637166 )
2015
5
Ranibizumab plus verteporfin photodynamic therapy in neovascular age-related macular degeneration: 12 months of retreatment and vision outcomes from a randomized study. ( 25471330 )
2015
6
Visual and anatomical outcomes following intravitreal aflibercept in eyes with recalcitrant neovascular age-related macular degeneration: 12-month results. ( 24833178 )
2014
7
Prospective audit of exudative age-related macular degeneration: 12-month outcomes in treatment-naive eyes. ( 23821201 )
2013
8
16 and 24 Gy low-voltage X-ray irradiation with ranibizumab therapy for neovascular age-related macular degeneration: 12-month outcomes. ( 23497847 )
2013
9
Subfoveal choroidal thickness after ranibizumab therapy for neovascular age-related macular degeneration: 12-month results. ( 22551738 )
2012

Variations for Macular Degeneration, Age-Related, 12

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CX3CR1 NM_001171174.1(CX3CR1): c.841G> A (p.Val281Ile) single nucleotide variant no interpretation for the single variant rs3732379 GRCh37 Chromosome 3, 39307256: 39307256
2 CX3CR1 NM_001171174.1(CX3CR1): c.841G> A (p.Val281Ile) single nucleotide variant no interpretation for the single variant rs3732379 GRCh38 Chromosome 3, 39265765: 39265765
3 CX3CR1 NM_001171174.1(CX3CR1): c.935C> T (p.Thr312Met) single nucleotide variant no interpretation for the single variant rs3732378 GRCh37 Chromosome 3, 39307162: 39307162
4 CX3CR1 NM_001171174.1(CX3CR1): c.935C> T (p.Thr312Met) single nucleotide variant no interpretation for the single variant rs3732378 GRCh38 Chromosome 3, 39265671: 39265671

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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