ARMD15
MCID: MCL065
MIFTS: 17

Macular Degeneration, Age-Related, 15 (ARMD15)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 15

MalaCards integrated aliases for Macular Degeneration, Age-Related, 15:

Name: Macular Degeneration, Age-Related, 15 57 72 29 6 70
Armd15 57 12 72
Macular Degeneration, Age-Related, 15, Susceptibility to 57
Macular Degeneration, Age-Related, Type 15 39
Age Related Macular Degeneration 15 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110027
OMIM® 57 615591
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
UMLS 70 C3810042

Summaries for Macular Degeneration, Age-Related, 15

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 15: 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, 15, is also known as armd15. An important gene associated with Macular Degeneration, Age-Related, 15 is C9 (Complement C9). Affiliated tissues include eye.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.

More information from OMIM: 615591 PS603075

Related Diseases for Macular Degeneration, Age-Related, 15

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 15

Clinical features from OMIM®:

615591 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 15

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 15

Genetic Tests for Macular Degeneration, Age-Related, 15

Genetic tests related to Macular Degeneration, Age-Related, 15:

# Genetic test Affiliating Genes
1 Macular Degeneration, Age-Related, 15 29 C9

Anatomical Context for Macular Degeneration, Age-Related, 15

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 15:

40
Eye

Publications for Macular Degeneration, Age-Related, 15

Articles related to Macular Degeneration, Age-Related, 15:

# Title Authors PMID Year
1
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 6 57
24036952 2013
2
QUANTITATIVE OPTICAL COHERENCE TOMOGRAPHY ANALYSIS OF RETINAL DEGENERATIVE CHANGES IN DIABETIC MACULAR EDEMA AND NEOVASCULAR AGE-RELATED MACULAR DEGENERATION. 61
28492427 2018
3
Assessment of patient pain experience during intravitreal 27-gauge bevacizumab and 30-gauge ranibizumab injection. 61
26028948 2015
4
Causes of blindness and visual impairment in a population-based sample of U.S. Hispanics. 61
11927431 2002

Variations for Macular Degeneration, Age-Related, 15

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C9 NM_001737.5(C9):c.499C>T (p.Pro167Ser) SNV risk factor 92120 rs34882957 GRCh37: 5:39331894-39331894
GRCh38: 5:39331792-39331792
2 C9 NM_001737.5(C9):c.355T>G (p.Cys119Gly) SNV Uncertain significance 17042 rs121909593 GRCh37: 5:39341369-39341369
GRCh38: 5:39341267-39341267

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 15:

72
# Symbol AA change Variation ID SNP ID
1 C9 p.Pro167Ser VAR_070940 rs34882957

Expression for Macular Degeneration, Age-Related, 15

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 15.

Pathways for Macular Degeneration, Age-Related, 15

GO Terms for Macular Degeneration, Age-Related, 15

Sources for Macular Degeneration, Age-Related, 15

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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