ARMD4
MCID: MCL038
MIFTS: 33

Macular Degeneration, Age-Related, 4 (ARMD4)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 4

MalaCards integrated aliases for Macular Degeneration, Age-Related, 4:

Name: Macular Degeneration, Age-Related, 4 56 73 13 71
Armd4 56 12 73
Age Related Macular Degeneration 4 12 15
Age-Related Macular Degeneration 4 29 6
Macular Degeneration, Age-Related, Type 4 39

Characteristics:

HPO:

31
macular degeneration, age-related, 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110017
OMIM 56 610698
OMIM Phenotypic Series 56 PS603075
MeSH 43 D008268
MedGen 41 C1853147
SNOMED-CT via HPO 68 422338006
UMLS 71 C1853147

Summaries for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot : 73 Macular degeneration, age-related, 4: 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, 4, also known as armd4, is related to macular degeneration, age-related, 1 and stargardt macular degeneration. An important gene associated with Macular Degeneration, Age-Related, 4 is CFH (Complement Factor H), and among its related pathways/superpathways is Microglia Activation During Neuroinflammation: Microglia Polarization. Affiliated tissues include eye, retina and testes, and related phenotypes are macular degeneration and Increased number of mitotic cells

Disease Ontology : 12 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.

More information from OMIM: 610698 PS603075

Related Diseases for Macular Degeneration, Age-Related, 4

Diseases in the Macular Degeneration, Early-Onset family:

Macular Degeneration, Age-Related, 2 Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 4
Macular Degeneration, Age-Related, 9 Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11 Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 5 Macular Degeneration, Age-Related, 8
Macular Degeneration, Age-Related, 12 Macular Degeneration, Age-Related, 13
Macular Degeneration, Age-Related, 14 Macular Degeneration, Age-Related, 15

Diseases related to Macular Degeneration, Age-Related, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 28.0 STT3A SFTA3 ELOVL4 CFH CFB BEST1
2 stargardt macular degeneration 10.3 ELOVL4 ABCA4
3 toxic maculopathy 10.2 CFH ABCA4
4 interval angle-closure glaucoma 10.2 BEST1 ABCA4
5 atypical hemolytic uremic syndrome with complement gene abnormality 10.2 CFH CFB
6 yemenite deaf-blind hypopigmentation syndrome 10.2 CFH ABCA4
7 multifocal choroiditis 10.2 CFH CFB
8 bestrophinopathy, autosomal recessive 10.2 BEST1 ABCA4
9 choroiditis 10.2 CFH CFB
10 dense deposit disease 10.1 CFH CFB
11 genetic atypical hemolytic-uremic syndrome 10.1 CFH CFB
12 retinitis pigmentosa 25 10.1 STT3A ELOVL4
13 c3 glomerulopathy 10.1 CFH CFB
14 hereditary retinal dystrophy 10.1 ELOVL4 ABCA4
15 enterocolitis 10.1 CFH CFB
16 macular dystrophy, dominant cystoid 10.1 BEST1 ABCA4
17 nephrotic syndrome, type 7 10.1 CFH CFB
18 kuhnt-junius degeneration 10.1 CFH CFB
19 choroid disease 10.0 BEST1 ABCA4
20 cataract 10.0
21 complement component 2 deficiency 10.0 CFH CFB
22 vitelliform macular dystrophy 10.0 ELOVL4 BEST1 ABCA4
23 complement deficiency 9.9 CFH CFB
24 membranoproliferative glomerulonephritis 9.9 CFH CFB
25 doyne honeycomb retinal dystrophy 9.8 ELOVL4 CFH BEST1 ABCA4
26 severe pre-eclampsia 9.8 CFH CFB
27 fundus albipunctatus 9.7 BEST1 ABCA4
28 basal laminar drusen 9.6 CFH CFB BEST1 ABCA4
29 hairy tongue 9.6 TGM2 SFTA3
30 congenital stationary night blindness 9.5 STT3A SFTA3 ABCA4
31 achromatopsia 9.5 STT3A SFTA3 BEST1 ABCA4
32 retinal drusen 9.4 ELOVL4 CFH CFB BEST1 ABCA4
33 degeneration of macula and posterior pole 9.4 ELOVL4 CFH CFB BEST1 ABCA4
34 retinal disease 9.4 ELOVL4 CFH CFB BEST1 ABCA4
35 leber congenital amaurosis 9.2 STT3A SFTA3 ELOVL4 BEST1 ABCA4
36 eye disease 9.2 SFTA3 CFH CFB BEST1 ABCA4
37 stargardt disease 9.0 STT3A SFTA3 ELOVL4 CFH BEST1 ABCA4
38 fundus dystrophy 9.0 STT3A SFTA3 ELOVL4 CFH BEST1 ABCA4
39 retinitis pigmentosa 8.9 STT3A SFTA3 ELOVL4 CFH BEST1 ABCA4
40 macular degeneration, age-related, 6 7.0 TGM2 SURF4 STT3A SFTA3 ELOVL4 CKAP5

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 4:



Diseases related to Macular Degeneration, Age-Related, 4

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 4

Human phenotypes related to Macular Degeneration, Age-Related, 4:

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

Clinical features from OMIM:

610698

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 8.8 BEST1 CKAP5 STT3A

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ABCA4 BEST1 CFH ELOVL4

Drugs & Therapeutics for Macular Degeneration, Age-Related, 4

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 4

Genetic Tests for Macular Degeneration, Age-Related, 4

Genetic tests related to Macular Degeneration, Age-Related, 4:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 4 29 CFH

Anatomical Context for Macular Degeneration, Age-Related, 4

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 4:

40
Eye, Retina, Testes, Endothelial, Tongue

Publications for Macular Degeneration, Age-Related, 4

Articles related to Macular Degeneration, Age-Related, 4:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Rare complement factor H variant associated with age-related macular degeneration in the Amish. 56 6
24906858 2014
2
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 56 6
22019782 2011
3
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 56 6
17241667 2007
4
Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. 56 6
17198853 2007
5
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. 56 6
17210858 2007
6
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 56 6
16936732 2006
7
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. 56 6
16936733 2006
8
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. 56 6
16710702 2006
9
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. 56 6
15870199 2005
10
Complement factor H variant increases the risk of age-related macular degeneration. 56 6
15761120 2005
11
Complement factor H polymorphism and age-related macular degeneration. 56 6
15761121 2005
12
Complement factor H polymorphism in age-related macular degeneration. 56 6
15761122 2005
13
Joint Associations of Diet, Lifestyle, and Genes with Age-Related Macular Degeneration. 56
26354764 2015
14
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. 6
25880396 2015
15
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 6
24036949 2013
16
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 6
23972322 2013
17
Seven new loci associated with age-related macular degeneration. 56
23455636 2013
18
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. 6
21930971 2011
19
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. 6
21979047 2011
20
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 6
21909106 2011
21
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
22
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. 6
20660596 2010
23
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. 56
20581873 2010
24
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
25
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. 6
18252712 2008
26
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 6
18252232 2008
27
The common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors. 6
17472578 2007
28
Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction. 6
17396242 2007
29
Genetics of pigment changes and geographic atrophy. 56
17591865 2007
30
Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. 6
17360715 2007
31
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. 6
17398321 2007
32
The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. 6
17293598 2007
33
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 6
17018561 2007
34
A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. 56
17210852 2007
35
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. 56
17000705 2006
36
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. 6
17079491 2006
37
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 56
16998489 2006
38
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. 6
16787919 2006
39
Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study. 6
16229850 2006
40
Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. 56
16754848 2006
41
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. 6
16630992 2006
42
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 6
16816528 2006
43
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. 56
15930014 2005
44
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. 6
15895326 2005
45
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. 6
12697737 2003
46
Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis. 61
30971815 2019
47
Prevalence of macular abnormalities identified only by optical coherence tomography in Brazilian patients with cataract. 61
31174986 2019
48
Mediterranean Diet Score and Its Association with Age-Related Macular Degeneration: The European Eye Study. 61
27825655 2017
49
Risk of Age-related Macular Degeneration 4 to 5 Years after Cataract Surgery. 61
26965529 2016
50
Three-year follow-up of a pilot study of ranibizumab combined with proton beam irradiation as treatment for exudative age-related macular degeneration. 61
22183743 2012

Variations for Macular Degeneration, Age-Related, 4

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFH NM_000186.3(CFH):c.1204= (p.His402=)SNV Pathogenic,risk factor 16549 rs1061170 1:196659237-196659237 1:196690107-196690107
2 CFH NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)SNV Pathogenic 16558 rs121913059 1:196716375-196716375 1:196747245-196747245
3 CFH NM_000186.3(CFH):c.1507C>G (p.Pro503Ala)SNV risk factor 157562 rs570523689 1:196683035-196683035 1:196713905-196713905
4 CFH NM_000186.3(CFH):c.1419G>C (p.Ala473=)SNV risk factor 16556 rs2274700 1:196682947-196682947 1:196713817-196713817
5 CFH NM_000186.3(CFH):c.2237-543=SNV risk factor 16557 rs1410996 1:196696933-196696933 1:196727803-196727803
6 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser)SNV Uncertain significance 625915 rs777300338 1:196646659-196646659 1:196677529-196677529
7 CFH NM_000186.3(CFH):c.2461C>T (p.His821Tyr)SNV Uncertain significance 625916 rs367687415 1:196706001-196706001 1:196736871-196736871
8 CFH NM_000186.3(CFH):c.184G>A (p.Val62Ile)SNV Benign 16550 rs800292 1:196642233-196642233 1:196673103-196673103

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 4:

73
# Symbol AA change Variation ID SNP ID
1 CFH p.Arg1210Cys VAR_025885 rs121913059

Expression for Macular Degeneration, Age-Related, 4

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 4.

Pathways for Macular Degeneration, Age-Related, 4

Pathways related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.47 TGM2 CCL20

GO Terms for Macular Degeneration, Age-Related, 4

Cellular components related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.02 TGM2 SURF4 STT3A ELOVL4 ABCA4

Biological processes related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 complement activation, alternative pathway GO:0006957 8.62 CFH CFB

Sources for Macular Degeneration, Age-Related, 4

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
34 ICD9CM
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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