MCID: MCL043
MIFTS: 21

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 57 75 13 73
Armd2 57 12 75
Age-Related Macular Degeneration 2 29 6
Macular Degeneration, Senile 57 55
Macular Degeneration, Age-Related, 2, Susceptibility to 6
Macular Degeneration, Age-Related, Type 2 40
Age Related Macular Degeneration 2 12
Maculopathy, Age-Related, 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macular degeneration, age-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 153800
Disease Ontology 12 DOID:0110015
MeSH 44 D008268
SNOMED-CT via HPO 69 263681008 267718000
UMLS 73 C3495438

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 75 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 stroke, ischemic. An important gene associated with Macular Degeneration, Age-Related, 2 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include eye, and related phenotype is age-related macular degeneration.

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:

57
Eyes:
senile macular degeneration
visual disturbance may precede ophthalmoscopic findings


Clinical features from OMIM:

153800

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

32
# Description HPO Frequency HPO Source Accession
1 age-related macular degeneration 32 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 29 ABCA4

Anatomical Context for Macular Degeneration, Age-Related, 2

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

41
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:

75 (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
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh37 Chromosome 1, 94463617: 94463617
2 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh38 Chromosome 1, 93998061: 93998061
3 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
4 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
5 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
6 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
7 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
8 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh38 Chromosome 1, 94047009: 94047009
9 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
10 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
11 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
12 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh38 Chromosome 1, 94079339: 94079339

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
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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