ARMD2
MCID: MCL043
MIFTS: 35

Macular Degeneration, Age-Related, 2 (ARMD2)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal 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 56 73 13 71
Armd2 56 12 73
Age Related Macular Degeneration 2 12 15
Age-Related Macular Degeneration 2 29 6
Macular Degeneration, Senile 56 54
Macular Degeneration, Age-Related, 2, Susceptibility to 6
Macular Degeneration, Age-Related, Type 2 39
Maculopathy, Age-Related, 2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110015
OMIM 56 153800
OMIM Phenotypic Series 56 PS603075
MeSH 43 D008268
SNOMED-CT via HPO 68 263681008 422338006
UMLS 71 C3495438

Summaries for Macular Degeneration, Age-Related, 2

OMIM : 56 Age-related macular degeneration-2 (ARMD2) is a complex disorder characterized by the accumulation of drusen in and under the retinal pigment epithelium (RPE) and the progressive atrophy of the macular RPE. These changes result in loss of photoreceptor function and vision impairment. Environmental risk factors include cigarette smoking, diet, and cholesterol level (summary by Allikmets et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. (153800)

MalaCards based summary : Macular Degeneration, Age-Related, 2, also known as armd2, is related to macular degeneration, age-related, 1 and kuhnt-junius degeneration. An important gene associated with Macular Degeneration, Age-Related, 2 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs Levodopa and Dihydroxyphenylalanine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotype is macular degeneration.

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

UniProtKB/Swiss-Prot : 73 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.

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:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 HP:0000608

Symptoms via clinical synopsis from OMIM:

56
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved 59-92-7 6047
2 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Functionally Validated Structural Endpoints for Early AMD Recruiting NCT04112667
2 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:

40
Eye, Retina, Skeletal Muscle, Placenta

Publications for Macular Degeneration, Age-Related, 2

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

(show top 50) (show all 95)
# Title Authors PMID Year
1
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 6 56
10396622 1999
2
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
3
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 6
27296531 2016
4
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 6
23972322 2013
5
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6
23243073 2013
6
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 6
20843825 2010
7
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 6
20610441 2010
8
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 6
20697048 2010
9
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
10
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 6
19349610 2009
11
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 6
19139304 2009
12
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. 6
18753147 2008
13
Pathogenic mitochondrial DNA mutations are common in the general population. 6
18674747 2008
14
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 6
18285826 2008
15
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 6
18306232 2008
16
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. 6
18006700 2008
17
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. 6
18252214 2008
18
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. 6
17656376 2007
19
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 6
17823937 2007
20
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. 6
17564976 2007
21
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. 6
17367211 2007
22
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. 6
16950816 2007
23
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 6
17018649 2006
24
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 6
17172609 2006
25
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 6
16998489 2006
26
Case of Stargardt disease caused by uniparental isodisomy. 6
16682602 2006
27
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
28
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. 6
16336784 2005
29
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. 6
15629304 2004
30
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. 6
15032978 2004
31
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. 6
12905015 2003
32
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. 6
12612863 2003
33
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 6
11919200 2002
34
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. 56
11818392 2002
35
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. 6
11840193 2001
36
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 6
11708999 2001
37
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. 6
11379873 2001
38
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. 6
11320187 2001
39
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). 6
11241464 2001
40
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. 6
11175302 2001
41
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 6
11096278 2001
42
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 6
11085913 2001
43
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. 6
11587074 2001
44
Simple and complex ABCR: genetic predisposition to retinal disease. 56
10970771 2000
45
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 6
10880298 2000
46
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. 6
10858457 2000
47
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 6
10699170 2000
48
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. 6
10514449 1999
49
Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. 56
10442900 1999
50
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6
10482110 1999

Variations for Macular Degeneration, Age-Related, 2

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

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509
2 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110
3 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
4 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
5 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722
6 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=)SNV Pathogenic 99505 rs62645944 1:94564350-94564350 1:94098794-94098794
7 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)SNV Pathogenic 99431 rs61753038 1:94471026-94471026 1:94005470-94005470
8 ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)SNV Pathogenic/Likely pathogenic 99108 rs61749420 1:94526296-94526296 1:94060740-94060740
9 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)SNV Pathogenic/Likely pathogenic 99083 rs55732384 1:94577117-94577117 1:94111561-94111561
10 ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)SNV Pathogenic/Likely pathogenic 99070 rs61748558 1:94528780-94528780 1:94063224-94063224
11 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499
12 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)SNV Pathogenic/Likely pathogenic 99224 rs1801269 1:94506901-94506901 1:94041345-94041345
13 ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)SNV Pathogenic/Likely pathogenic 99284 rs61750146 1:94495078-94495078 1:94029522-94029522
14 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic/Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
15 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)SNV Pathogenic/Likely pathogenic 7888 rs1800553 1:94473807-94473807 1:94008251-94008251
16 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413
17 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)SNV Pathogenic/Likely pathogenic 7898 rs61750200 1:94564484-94564484 1:94098928-94098928
18 ABCA4 NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)SNV Likely pathogenic 236144 rs886044758 1:94471067-94471067 1:94005511-94005511
19 ABCA4 NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)SNV Conflicting interpretations of pathogenicity 265010 rs138682163 1:94548928-94548928 1:94083372-94083372
20 ABCA4 NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)SNV Conflicting interpretations of pathogenicity 99310 rs62646863 1:94568675-94568675 1:94103119-94103119
21 ABCA4 NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)SNV Uncertain significance 374737 rs138359497 1:94574205-94574205 1:94108649-94108649
22 ABCA4 NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)SNV Uncertain significance 99033 rs61748549 1:94544977-94544977 1:94079421-94079421
23 ABCA4 NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)SNV Benign/Likely benign 7913 rs1801581 1:94512565-94512565 1:94047009-94047009
24 ABCA4 NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)SNV Benign/Likely benign 7885 rs1800555 1:94463617-94463617 1:93998061-93998061

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

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ABCA4 p.Gly818Glu VAR_008422 rs61750202
2 ABCA4 p.Arg1129Leu VAR_008439 rs1801269
3 ABCA4 p.Arg1517Ser VAR_008455 rs1800550
4 ABCA4 p.Ile1562Thr VAR_008458 rs1762111
5 ABCA4 p.Gly1578Arg VAR_008459 rs1800551
6 ABCA4 p.Arg1898His VAR_008473 rs1800552
7 ABCA4 p.Leu1970Phe VAR_008476 rs28938473
8 ABCA4 p.Gly1977Ser VAR_008477 rs61750639
9 ABCA4 p.Ala762Glu VAR_067427
10 ABCA4 p.Trp1724Cys VAR_067428
11 ABCA4 p.Ile2047Asn VAR_067429
12 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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