MCID: MCL039
MIFTS: 16

Macular Degeneration, Age-Related, 8

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 8

MalaCards integrated aliases for Macular Degeneration, Age-Related, 8:

Name: Macular Degeneration, Age-Related, 8 57 75 13 73
Armd8 57 12 75
Age-Related Macular Degeneration 8 29 6
Macular Degeneration, Age-Related, Type 8 40
Age Related Macular Degeneration 8 12

Classifications:



External Ids:

OMIM 57 613778
Disease Ontology 12 DOID:0110020
MedGen 42 C3151070
MeSH 44 D008268
UMLS 73 C3151070

Summaries for Macular Degeneration, Age-Related, 8

OMIM : 57 Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking. For a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see 603075. (613778)

MalaCards based summary : Macular Degeneration, Age-Related, 8, is also known as armd8. An important gene associated with Macular Degeneration, Age-Related, 8 is ARMS2 (Age-Related Maculopathy Susceptibility 2). Affiliated tissues include eye and retina.

Disease Ontology : 12 An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 8: 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.

Related Diseases for Macular Degeneration, Age-Related, 8

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 8

Clinical features from OMIM:

613778

Drugs & Therapeutics for Macular Degeneration, Age-Related, 8

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 8

Genetic Tests for Macular Degeneration, Age-Related, 8

Genetic tests related to Macular Degeneration, Age-Related, 8:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 8 29 ARMS2

Anatomical Context for Macular Degeneration, Age-Related, 8

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 8:

41
Eye, Retina

Publications for Macular Degeneration, Age-Related, 8

Variations for Macular Degeneration, Age-Related, 8

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARMS2 ARMS2, 443-BP DEL/54-BP INS indel risk factor

Expression for Macular Degeneration, Age-Related, 8

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 8.

Pathways for Macular Degeneration, Age-Related, 8

GO Terms for Macular Degeneration, Age-Related, 8

Sources for Macular Degeneration, Age-Related, 8

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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