ARMD2
MCID: MCL043
MIFTS: 34

Macular Degeneration, Age-Related, 2 (ARMD2)

Categories: Blood diseases, 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 57 74 13 72
Armd2 57 12 74
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:

Disease Ontology 12 DOID:0110015
MeSH 44 D008268
UMLS 72 C3495438

Summaries for Macular Degeneration, Age-Related, 2

UniProtKB/Swiss-Prot : 74 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). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include eye, placenta 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.

More information from OMIM: 153800 PS603075

Related Diseases for Macular Degeneration, Age-Related, 2

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 2:



Diseases related to Macular Degeneration, Age-Related, 2

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

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

32
# Description HPO Frequency HPO Source Accession
1 macular degeneration 32 HP:0000608

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

153800

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

Drugs for Macular Degeneration, Age-Related, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Levodopa Approved 59-92-7 6047
3 Dopamine Agents
4 Dihydroxyphenylalanine
5 Neurotransmitter Agents
6 Antiparkinson Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Protective Role of the L-DOPA Against Age Related Macular Degeneration in Parkinson's Patients Terminated NCT02863640

Search 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, Placenta, Retina, Skeletal Muscle

Publications for Macular Degeneration, Age-Related, 2

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

(show top 50) (show all 90)
# Title Authors PMID Year
1
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 8 71
10396622 1999
2
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
3
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 71
27296531 2016
4
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 71
23243073 2013
5
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 71
20610441 2010
6
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 71
20697048 2010
7
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 71
20550934 2010
8
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 71
19349610 2009
9
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 71
19139304 2009
10
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. 71
18753147 2008
11
Pathogenic mitochondrial DNA mutations are common in the general population. 71
18674747 2008
12
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 71
18285826 2008
13
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 71
18306232 2008
14
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. 71
18252214 2008
15
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. 71
17656376 2007
16
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 71
17823937 2007
17
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. 71
17564976 2007
18
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. 71
16950816 2007
19
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 71
17018649 2006
20
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 71
17172609 2006
21
Case of Stargardt disease caused by uniparental isodisomy. 71
16682602 2006
22
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 71
16326995 2006
23
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. 71
16336784 2005
24
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. 71
15629304 2004
25
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. 71
15032978 2004
26
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. 71
12905015 2003
27
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. 71
12612863 2003
28
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 71
11919200 2002
29
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. 8
11818392 2002
30
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. 71
11840193 2001
31
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 71
11708999 2001
32
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. 71
11379873 2001
33
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. 71
11320187 2001
34
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). 71
11241464 2001
35
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. 71
11175302 2001
36
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. 71
11587074 2001
37
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 71
11096278 2001
38
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 71
11085913 2001
39
Simple and complex ABCR: genetic predisposition to retinal disease. 8
10970771 2000
40
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 71
10880298 2000
41
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. 71
10858457 2000
42
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 71
10699170 2000
43
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. 71
10514449 1999
44
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. 8
10442900 1999
45
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 71
10482110 1999
46
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 71
10407850 1999
47
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. 71
10366077 1999
48
Infantile encephalopathy associated with the MELAS A3243G mutation. 71
10356136 1999
49
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. 71
10090887 1999
50
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 71
9973280 1999

Variations for Macular Degeneration, Age-Related, 2

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

6 (show all 24)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 1:94496666-94496666 1:94031110-94031110
2 ABCA4 NM_000350.3(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 1:94471056-94471056 1:94005500-94005500
3 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 MT:3243-3243 MT:3243-3243
4 ABCA4 NM_000350.3(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 1:94476951-94476951 1:94011395-94011395
5 ABCA4 NM_000350.3(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 1:94564350-94564350 1:94098794-94098794
6 ABCA4 NM_000350.3(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 1:94471065-94471065 1:94005509-94005509
7 ABCA4 NM_000350.3(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 1:94471026-94471026 1:94005470-94005470
8 ABCA4 NM_000350.3(ABCA4): c.5917del (p.Gly1972_Val1973insTer) deletion Pathogenic rs61751389 1:94473278-94473278 1:94007722-94007722
9 ABCA4 NM_000350.3(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 1:94471055-94471055 1:94005499-94005499
10 ABCA4 NM_000350.3(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 1:94564484-94564484 1:94098928-94098928
11 ABCA4 NM_000350.3(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 1:94508969-94508969 1:94043413-94043413
12 ABCA4 NM_000350.3(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic rs1800553 1:94473807-94473807 1:94008251-94008251
13 ABCA4 NM_000350.3(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61748558 1:94528780-94528780 1:94063224-94063224
14 ABCA4 NM_000350.3(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 1:94577117-94577117 1:94111561-94111561
15 ABCA4 NM_000350.3(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 1:94506901-94506901 1:94041345-94041345
16 ABCA4 NM_000350.3(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 1:94495078-94495078 1:94029522-94029522
17 ABCA4 NM_000350.3(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 1:94526296-94526296 1:94060740-94060740
18 ABCA4 NM_000350.3(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 1:94471067-94471067 1:94005511-94005511
19 ABCA4 NM_000350.3(ABCA4): c.838A> T (p.Met280Leu) single nucleotide variant Uncertain significance rs138682163 1:94548928-94548928 1:94083372-94083372
20 ABCA4 NM_000350.3(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 1:94568675-94568675 1:94103119-94103119
21 ABCA4 NM_000350.3(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 1:94544977-94544977 1:94079421-94079421
22 ABCA4 NM_000350.3(ABCA4): c.370C> T (p.Arg124Cys) single nucleotide variant Uncertain significance rs138359497 1:94574205-94574205 1:94108649-94108649
23 ABCA4 NM_000350.3(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant Benign/Likely benign rs1801581 1:94512565-94512565 1:94047009-94047009
24 ABCA4 NM_000350.3(ABCA4): c.6529G> A (p.Asp2177Asn) single nucleotide variant Benign/Likely benign rs1800555 1:94463617-94463617 1:93998061-93998061

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

74 (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

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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