ARMD8
MCID: MCL039
MIFTS: 37

Macular Degeneration, Age-Related, 8 (ARMD8)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 8

MalaCards integrated aliases for Macular Degeneration, Age-Related, 8:

Name: Macular Degeneration, Age-Related, 8 56 73 13 71
Armd8 56 12 73
Age Related Macular Degeneration 8 12 15
Age-Related Macular Degeneration 8 29 6
Macular Degeneration, Age-Related, Type 8 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110020
OMIM 56 613778
OMIM Phenotypic Series 56 PS603075
MeSH 43 D008268
MedGen 41 C3151070
UMLS 71 C3151070

Summaries for Macular Degeneration, Age-Related, 8

OMIM : 56 Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking. For a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see 603075. (613778)

MalaCards based summary : Macular Degeneration, Age-Related, 8, also known as armd8, is related to multifocal choroiditis and choroiditis. An important gene associated with Macular Degeneration, Age-Related, 8 is ARMS2 (Age-Related Maculopathy Susceptibility 2), and among its related pathways/superpathways are T cell receptor signaling pathway and Th17 cell differentiation. Affiliated tissues include eye and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.

UniProtKB/Swiss-Prot : 73 Macular degeneration, age-related, 8: 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, 8

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, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 multifocal choroiditis 10.2 TNF ARMS2
2 choroiditis 10.2 TNF ARMS2
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.2 PTPRC IL7R
4 oral tuberculosis 10.1 TNF MMUT
5 neu-laxova syndrome 1 10.1 SUPT20H LSR
6 breast lipoma 10.1 PTPRC GZMB
7 primary cutaneous anaplastic large cell lymphoma 10.1 PTPRC GZMB
8 thyroid lymphoma 10.0 TNF IL7R
9 aneruptive fever 10.0 TBX21 CD28
10 t-cell lymphoma, subcutaneous panniculitis-like 10.0 HAVCR2 GZMB
11 alzheimer disease 12 9.9 LSR CD28
12 autoimmune disease of cardiovascular system 9.9 TNF CD28
13 t cell deficiency 9.9 PTPRC IL7R CD28
14 combined t cell and b cell immunodeficiency 9.9 PTPRC IL7R CD28
15 diabetes mellitus, insulin-dependent, 21 9.8 TBX21 EOMES CD28
16 hypotrichosis 1 9.8 TNF PTPRC LSR
17 retinitis pigmentosa 10 9.8 PTPRC KLRG1
18 hantavirus hemorrhagic fever with renal syndrome 9.7 TNF GZMB
19 autoimmune disease of eyes, ear, nose and throat 9.7 TNF TBX21
20 granulomatosis with polyangiitis 9.7 TNF IL7R CD28
21 sarcoidosis 1 9.6 TNF PTPRC CD28
22 relapsing-remitting multiple sclerosis 9.6 TNF IL7R CD28
23 demyelinating disease 9.6 TNF PTPRC IL7R
24 b-cell expansion with nfkb and t-cell anergy 9.6 GZMB CD28
25 angioimmunoblastic t-cell lymphoma 9.6 TBX21 GZMB CD28
26 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.5 TBX21 LAG3 IL7R CD28
27 graft-versus-host disease 9.5 TNF GZMB CD28
28 immune deficiency disease 9.4 TNF PTPRC IL7R CD28
29 autoimmune disease of central nervous system 9.4 TNF TBX21 PTPRC CD28
30 immune system disease 9.4 TNF TBX21 PTPRC CD28
31 listeriosis 9.4 TNF TBX21 PTPRC KLRG1 IL7R
32 autoimmune lymphoproliferative syndrome 9.3 TNF PTPRC GZMB CD28
33 dermatitis, atopic 9.3 TNF TBX21 PTPRC CD28
34 viral infectious disease 9.2 TNF IL7R GZMB CD28
35 aplastic anemia 9.2 TNF TBX21 HAVCR2 CD28
36 multiple sclerosis 9.2 TNF PTPRC IL7R HAVCR2 CD28
37 human immunodeficiency virus infectious disease 9.0 TNF PTPRC IL7R GZMB CD28
38 celiac disease 1 8.9 TNF TBX21 IL7R GZMB CD28

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 8:



Diseases related to Macular Degeneration, Age-Related, 8

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 8

Clinical features from OMIM:

613778

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 8 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.5 LSR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 TBX21
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.5 HIF1A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.5 EOMES HIF1A LSR TBX21
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.5 EOMES
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.5 EOMES
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.5 EOMES
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 EOMES
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.5 LSR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.5 HIF1A LSR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 TBX21

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 CD28 EOMES HAVCR2 HIF1A IL7R LAG3
2 immune system MP:0005387 9.7 CD160 CD28 EOMES HAVCR2 HIF1A IL7R
3 neoplasm MP:0002006 9.28 CD160 CD28 EOMES HIF1A IL7R LAG3

Drugs & Therapeutics for Macular Degeneration, Age-Related, 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Effectiveness, in a Multi-Center, Randomized, Sham Controlled Investigation for Dry, Non-Exudative Age Related Macular Degeneration (AMD)Using Rheopheresis Suspended NCT00460967 Phase 3

Search NIH Clinical Center for Macular Degeneration, Age-Related, 8

Genetic Tests for Macular Degeneration, Age-Related, 8

Genetic tests related to Macular Degeneration, Age-Related, 8:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 8 29 ARMS2

Anatomical Context for Macular Degeneration, Age-Related, 8

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 8:

40
Eye, Retina

Publications for Macular Degeneration, Age-Related, 8

Articles related to Macular Degeneration, Age-Related, 8:

(show all 21)
# Title Authors PMID Year
1
Seven new loci associated with age-related macular degeneration. 6 56
23455636 2013
2
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 56 6
16642439 2006
3
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. 56 6
16174643 2005
4
CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. 6
23972322 2013
5
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 56
21909106 2011
6
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
7
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
8
Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. 56
18535016 2008
9
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. 6
18511946 2008
10
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. 6
17884985 2007
11
A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. 56
17210852 2007
12
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 6
16936732 2006
13
Susceptibility genes for age-related maculopathy on chromosome 10q26. 56
16080115 2005
14
Meta-analysis of genome scans of age-related macular degeneration. 56
15987700 2005
15
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 56
15168325 2004
16
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 56
14758336 2004
17
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. 56
12945014 2003
18
Age-related macular degeneration--a genome scan in extended families. 56
12900797 2003
19
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis. 61
29032195 2017
20
Auckland cataract study 2: clinical outcomes of phacoemulsification cataract surgery in a public teaching hospital. 61
28168827 2017
21
[Evaluating the results of surgery of choroidal neovessels]. 61
9238472 1997

Variations for Macular Degeneration, Age-Related, 8

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 8:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARMS2 ARMS2, 443-BP DEL/54-BP INSindel risk factor 980
2 ARMS2 NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)SNV Likely benign 979 rs10490924 10:124214448-124214448 10:122454932-122454932

Expression for Macular Degeneration, Age-Related, 8

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 8.

Pathways for Macular Degeneration, Age-Related, 8

Pathways related to Macular Degeneration, Age-Related, 8 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 TNF PTPRC HIF1A CD28
2
Show member pathways
12.3 TNF TBX21 HIF1A CD28
3 12.07 TNF TBX21 PTPRC LAG3 HAVCR2 GZMB
4
Show member pathways
11.78 TNF TBX21 CD28
5
Show member pathways
11.66 TBX21 GZMB EOMES
6 11.52 TNF PTPRC IL7R CD28
7 11.45 TNF PTPRC IL7R
8
Show member pathways
11.33 TNF GZMB EOMES
9 11.26 HAVCR2 CD28 CD160
10 11.07 TNF TBX21 PTPRC IL7R GZMB EOMES
11 10.94 TNF TBX21 EOMES

GO Terms for Macular Degeneration, Age-Related, 8

Cellular components related to Macular Degeneration, Age-Related, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.35 TNF PTPRC LAG3 IL7R CD28
2 immunological synapse GO:0001772 8.8 HAVCR2 GZMB CD28

Biological processes related to Macular Degeneration, Age-Related, 8 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10 TNF SUPT20H HIF1A HAVCR2 EOMES
2 immune system process GO:0002376 9.96 LAG3 HAVCR2 EOMES CD28 CD160
3 adaptive immune response GO:0002250 9.87 LAG3 HAVCR2 EOMES CD160
4 negative regulation of gene expression GO:0010629 9.83 TNF HIF1A HAVCR2 CD28
5 positive regulation of gene expression GO:0010628 9.83 TNF TBX21 IL7R HIF1A CD28
6 heart looping GO:0001947 9.65 TBX21 HIF1A EOMES
7 positive regulation of T cell proliferation GO:0042102 9.63 PTPRC HAVCR2 CD28
8 positive regulation of nitric-oxide synthase activity GO:0051000 9.59 TNF HIF1A
9 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.58 LAG3 CD160
10 positive regulation of interleukin-4 production GO:0032753 9.58 HAVCR2 CD28
11 negative regulation of interleukin-2 production GO:0032703 9.55 TBX21 HAVCR2
12 cell surface receptor signaling pathway GO:0007166 9.55 PTPRC LAG3 KLRG1 IL7R CD28
13 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.54 PTPRC CD28
14 negative thymic T cell selection GO:0045060 9.51 PTPRC CD28
15 positive regulation of alpha-beta T cell proliferation GO:0046641 9.49 PTPRC CD28
16 T cell differentiation GO:0030217 9.43 TBX21 PTPRC IL7R
17 negative regulation of T cell mediated cytotoxicity GO:0001915 9.4 PTPRC IL7R
18 negative regulation of interleukin-2 biosynthetic process GO:0045085 9.37 PTPRC LAG3
19 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.32 TNF PTPRC
20 positive regulation of chemokine production GO:0032722 9.13 TNF HIF1A HAVCR2
21 positive regulation of isotype switching to IgG isotypes GO:0048304 8.8 TBX21 PTPRC CD28

Sources for Macular Degeneration, Age-Related, 8

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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