ARMD2
MCID: MCL043
MIFTS: 29

Macular Degeneration, Age-Related, 2 (ARMD2)

Categories: Eye diseases, Genetic 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 58 76 13 74
Armd2 58 12 76
Age-Related Macular Degeneration 2 30 6
Macular Degeneration, Senile 58 56
Macular Degeneration, Age-Related, 2, Susceptibility to 6
Macular Degeneration, Age-Related, Type 2 41
Age Related Macular Degeneration 2 12
Maculopathy, Age-Related, 2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
macular degeneration, age-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110015
OMIM 58 153800
MeSH 45 D008268
SNOMED-CT via HPO 70 263681008 422338006
UMLS 74 C3495438

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 76 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 kuhnt-junius degeneration and macular degeneration, age-related, 1. An important gene associated with Macular Degeneration, Age-Related, 2 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include eye, skeletal muscle and retina, and related phenotype is 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

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

33
# Description HPO Frequency HPO Source Accession
1 macular degeneration 33 HP:0000608

Symptoms via clinical synopsis from OMIM:

58
Eyes:
senile macular degeneration
visual disturbance may precede ophthalmoscopic findings

Clinical features from OMIM:

153800

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 30 ABCA4

Anatomical Context for Macular Degeneration, Age-Related, 2

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

42
Eye, Skeletal Muscle, Retina, Placenta

Publications for Macular Degeneration, Age-Related, 2

Articles related to Macular Degeneration, Age-Related, 2:

(show top 50) (show all 84)
# Title Authors Year
1
Treat-and-extend therapy using intravitreal aflibercept for neovascular age-related macular degeneration: 2-year real-world practice data from Slovenia. ( 30572850 )
2018
2
Randomized Trial of Treat-and-Extend versus Monthly Dosing for Neovascular Age-Related Macular Degeneration: 2-Year Results of the TREX-AMD Study. ( 31047517 )
2017
3
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
4
The phenotypic spectrum of fifty Czech m.3243A>G carriers. ( 27296531 )
2016
5
Cost-effectiveness of ranibizumab and bevacizumab for age-related macular degeneration: 2-year findings from the IVAN randomised trial. ( 25079928 )
2014
6
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. ( 23243073 )
2013
7
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. ( 20697048 )
2010
8
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. ( 20550934 )
2010
9
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. ( 20610441 )
2010
10
Full macular translocation (FMT) versus photodynamic therapy (PDT) with verteporfin in the treatment of neovascular age-related macular degeneration: 2-year results of a prospective, controlled, randomised pilot trial (FMT-PDT). ( 19214552 )
2009
11
Protean phenotypic features of the A3243G mitochondrial DNA mutation. ( 19139304 )
2009
12
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. ( 19349610 )
2009
13
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. ( 18306232 )
2008
14
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. ( 18252214 )
2008
15
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. ( 18285826 )
2008
16
Pathogenic mitochondrial DNA mutations are common in the general population. ( 18674747 )
2008
17
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. ( 18753147 )
2008
18
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. ( 17564976 )
2007
19
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. ( 16950816 )
2007
20
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. ( 17656376 )
2007
21
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. ( 17823937 )
2007
22
Case of Stargardt disease caused by uniparental isodisomy. ( 16682602 )
2006
23
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. ( 17018649 )
2006
24
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. ( 16326995 )
2006
25
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. ( 17172609 )
2006
26
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. ( 16336784 )
2005
27
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. ( 15629304 )
2004
28
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. ( 15032978 )
2004
29
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. ( 12905015 )
2003
30
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. ( 12612863 )
2003
31
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. ( 11919200 )
2002
32
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. ( 11587074 )
2001
33
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. ( 11840193 )
2001
34
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. ( 11379873 )
2001
35
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. ( 11320187 )
2001
36
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. ( 11175302 )
2001
37
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). ( 11241464 )
2001
38
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. ( 11085913 )
2001
39
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. ( 11708999 )
2001
40
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. ( 11096278 )
2001
41
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. ( 10699170 )
2000
42
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. ( 10880298 )
2000
43
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. ( 10858457 )
2000
44
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. ( 9973280 )
1999
45
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. ( 10090887 )
1999
46
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. ( 10514449 )
1999
47
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. ( 10482110 )
1999
48
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. ( 10407850 )
1999
49
Infantile encephalopathy associated with the MELAS A3243G mutation. ( 10356136 )
1999
50
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. ( 10366077 )
1999

Variations for Macular Degeneration, Age-Related, 2

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

76 (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 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 GRCh38 Chromosome 1, 94005470: 94005470
2 ABCA4 NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 GRCh37 Chromosome 1, 94471026: 94471026
3 ABCA4 NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 GRCh38 Chromosome 1, 94005499: 94005499
4 ABCA4 NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 GRCh37 Chromosome 1, 94471055: 94471055
5 ABCA4 NM_000350.2(ABCA4): c.5917delG (p.Val1973Terfs) deletion Pathogenic rs61751389 GRCh38 Chromosome 1, 94007722: 94007722
6 ABCA4 NM_000350.2(ABCA4): c.5917delG (p.Val1973Terfs) deletion Pathogenic rs61751389 GRCh37 Chromosome 1, 94473278: 94473278
7 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh38 Chromosome 1, 94103119: 94103119
8 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh37 Chromosome 1, 94568675: 94568675
9 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh38 Chromosome 1, 94029522: 94029522
10 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh37 Chromosome 1, 94495078: 94495078
11 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh38 Chromosome 1, 94041345: 94041345
12 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh37 Chromosome 1, 94506901: 94506901
13 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh38 Chromosome 1, 94060740: 94060740
14 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh37 Chromosome 1, 94526296: 94526296
15 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh38 Chromosome 1, 94111561: 94111561
16 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh37 Chromosome 1, 94577117: 94577117
17 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh38 Chromosome 1, 94063224: 94063224
18 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh37 Chromosome 1, 94528780: 94528780
19 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh38 Chromosome 1, 94079421: 94079421
20 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh37 Chromosome 1, 94544977: 94544977
21 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
22 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
23 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
24 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
25 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh38 Chromosome 1, 94047009: 94047009
26 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
27 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
28 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
29 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
30 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
31 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
32 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
33 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
34 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
35 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
36 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
37 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh38 Chromosome 1, 93998061: 93998061
38 ABCA4 NM_000350.2(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant risk factor rs1800555 GRCh37 Chromosome 1, 94463617: 94463617
39 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh38 Chromosome 1, 94005509: 94005509
40 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
41 ABCA4 NM_000350.2(ABCA4): c.370C> T (p.Arg124Cys) single nucleotide variant Uncertain significance rs138359497 GRCh38 Chromosome 1, 94108649: 94108649
42 ABCA4 NM_000350.2(ABCA4): c.370C> T (p.Arg124Cys) single nucleotide variant Uncertain significance rs138359497 GRCh37 Chromosome 1, 94574205: 94574205
43 ABCA4 NM_000350.2(ABCA4): c.838A> T (p.Met280Leu) single nucleotide variant Uncertain significance rs138682163 GRCh38 Chromosome 1, 94083372: 94083372
44 ABCA4 NM_000350.2(ABCA4): c.838A> T (p.Met280Leu) single nucleotide variant Uncertain significance rs138682163 GRCh37 Chromosome 1, 94548928: 94548928
45 ABCA4 NM_000350.2(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 GRCh38 Chromosome 1, 94005511: 94005511
46 ABCA4 NM_000350.2(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 GRCh37 Chromosome 1, 94471067: 94471067
47 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh38 Chromosome 1, 94098794: 94098794
48 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh37 Chromosome 1, 94564350: 94564350

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

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