MCID: MCL043
MIFTS: 20

Macular Degeneration, Age-Related, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 2

MalaCards integrated aliases for Macular Degeneration, Age-Related, 2:

Name: Macular Degeneration, Age-Related, 2 53 71 13 69
Armd2 53 12 71
Macular Degeneration, Senile 53 51
Age Related Macular Degeneration 2 12
Age-Related Macular Degeneration 2 28
Maculopathy, Age-Related, 2 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
macular degeneration, age-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 153800
Disease Ontology 12 DOID:0110015
MeSH 41 D008268
SNOMED-CT via HPO 65 263681008 267718000
UMLS 69 C3495438

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 71 Macular degeneration, age-related, 2: 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, 2, also known as armd2, is related to macular degeneration, age-related, 1, and has symptoms including age-related macular degeneration An important gene associated with Macular Degeneration, Age-Related, 2 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include eye.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.

Description from OMIM: 153800

Related Diseases for Macular Degeneration, Age-Related, 2

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 2

Symptoms via clinical synopsis from OMIM:

53
Eyes:
senile macular degeneration
visual disturbance may precede ophthalmoscopic findings


Clinical features from OMIM:

153800

Human phenotypes related to Macular Degeneration, Age-Related, 2:

31
# Description HPO Frequency HPO Source Accession
1 age-related macular degeneration 31 HP:0007868

Drugs & Therapeutics for Macular Degeneration, Age-Related, 2

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 2

Genetic Tests for Macular Degeneration, Age-Related, 2

Genetic tests related to Macular Degeneration, Age-Related, 2:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 2 28 ABCA4

Anatomical Context for Macular Degeneration, Age-Related, 2

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 2:

38
Eye

Publications for Macular Degeneration, Age-Related, 2

Variations for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 2:

71 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ABCA4 p.Glu471Lys VAR_008413 rs1800548
2 ABCA4 p.Gly818Glu VAR_008422 rs61750202
3 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
4 ABCA4 p.Thr1428Met VAR_008447 rs1800549
5 ABCA4 p.Arg1517Ser VAR_008455 rs1800550
6 ABCA4 p.Ile1562Thr VAR_008458 rs1762111
7 ABCA4 p.Gly1578Arg VAR_008459 rs1800551
8 ABCA4 p.Arg1898His VAR_008473 rs1800552
9 ABCA4 p.Leu1970Phe VAR_008476 rs28938473
10 ABCA4 p.Gly1977Ser VAR_008477 rs61750639
11 ABCA4 p.Ala762Glu VAR_067427
12 ABCA4 p.Trp1724Cys VAR_067428
13 ABCA4 p.Ile2047Asn VAR_067429
14 ABCA4 p.Cys2137Tyr VAR_067430

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
2 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
3 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
4 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895

Expression for Macular Degeneration, Age-Related, 2

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 2.

Pathways for Macular Degeneration, Age-Related, 2

GO Terms for Macular Degeneration, Age-Related, 2

Sources for Macular Degeneration, Age-Related, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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