ARMD8
MCID: MCL039
MIFTS: 38

Macular Degeneration, Age-Related, 8 (ARMD8)

Categories: Blood diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 57 72 13 70
Armd8 57 12 72
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® 57 613778
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C3151070
UMLS 70 C3151070

Summaries for Macular Degeneration, Age-Related, 8

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Macular Degeneration, Age-Related, 8, also known as armd8, is related to t-cell non-hodgkin lymphoma and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive. An important gene associated with Macular Degeneration, Age-Related, 8 is ARMS2 (Age-Related Maculopathy Susceptibility 2), and among its related pathways/superpathways are NF-kappaB Signaling and IL12-mediated signaling events. Affiliated tissues include eye and retina, and related phenotypes are hematopoietic system and immune system

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 : 72 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 t-cell non-hodgkin lymphoma 10.1 PTPRC HAVCR2
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.1 PTPRC IL7R
3 breast lipoma 10.1 PTPRC GZMB
4 primary cutaneous anaplastic large cell lymphoma 10.1 PTPRC GZMB
5 aneruptive fever 10.0 TBX21 CD28
6 multifocal choroiditis 10.0 TNF ARMS2
7 choroiditis 10.0 TNF ARMS2
8 t-cell lymphoma, subcutaneous panniculitis-like 10.0 HAVCR2 GZMB
9 oral tuberculosis 10.0 TNF MMUT
10 retinitis pigmentosa 10 10.0 PTPRC KLRG1 CD28
11 dermatitis, atopic, 5 9.9 TBX21 KLRG1 IL7R
12 t cell deficiency 9.9 PTPRC IL7R CD28
13 type 1 diabetes mellitus 21 9.9 TBX21 EOMES CD28
14 thyroid lymphoma 9.9 TNF IL7R
15 b-cell expansion with nfkb and t-cell anergy 9.8 GZMB CD28
16 actinomycosis 9.8 TNF PTPRC
17 histoplasmosis 9.8 TNF ARMS2
18 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8 TBX21 IL7R CD28
19 systemic onset juvenile idiopathic arthritis 9.8 TNF GZMB
20 drug-induced lupus erythematosus 9.8 TNF PTPRC
21 hantavirus hemorrhagic fever with renal syndrome 9.7 TNF GZMB
22 autoimmune disease of eyes, ear, nose and throat 9.7 TNF TBX21
23 angioimmunoblastic t-cell lymphoma 9.7 TBX21 GZMB CD28
24 hypotrichosis 1 9.7 TNF PTPRC CD28
25 diamond-blackfan anemia 1 9.7 TNF PTPRC CD28
26 omenn syndrome 9.7 TNF PTPRC IL7R
27 primary bacterial infectious disease 9.7 TNF PTPRC CD28
28 leukocyte disease 9.7 TNF PTPRC CD28
29 autoimmune disease of musculoskeletal system 9.6 TNF PTPRC CD28
30 demyelinating disease 9.6 TNF PTPRC IL7R
31 sarcoidosis 1 9.6 TNF PTPRC CD28
32 panniculitis 9.6 TNF HAVCR2 GZMB
33 relapsing-remitting multiple sclerosis 9.6 TNF IL7R CD28
34 sialadenitis 9.6 TNF CD28
35 granulomatosis with polyangiitis 9.6 TNF IL7R CD28
36 hemophagocytic lymphohistiocytosis 9.6 TNF HAVCR2 GZMB
37 graft-versus-host disease 9.5 TNF GZMB CD28
38 autoimmune lymphoproliferative syndrome 9.4 TNF PTPRC IL7R CD28
39 autoimmune disease 9.4 TNF TBX21 HAVCR2 CD28
40 myeloma, multiple 9.4 TNF PTPRC IL7R CD28
41 combined immunodeficiency 9.4 TNF PTPRC IL7R CD28
42 listeriosis 9.3 TNF TBX21 PTPRC KLRG1 IL7R
43 viral infectious disease 9.3 TNF IL7R GZMB CD28
44 aplastic anemia 9.2 TNF TBX21 HAVCR2 CD28
45 immune deficiency disease 9.2 TNF PTPRC LAG3 IL7R CD28
46 multiple sclerosis 9.2 TNF PTPRC IL7R HAVCR2 CD28
47 autoimmune disease of central nervous system 9.2 TNF TBX21 PTPRC IL7R CD28
48 autoimmune disease of the nervous system 9.2 TNF TBX21 PTPRC IL7R CD28
49 leukemia, acute myeloid 9.2 TNF PTPRC IL7R HAVCR2 CD28
50 human immunodeficiency virus infectious disease 9.1 TNF PTPRC 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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 CD160 CD28 EOMES HAVCR2 IL7R LAG3
2 immune system MP:0005387 9.65 CD160 CD28 EOMES HAVCR2 IL7R LAG3
3 neoplasm MP:0002006 9.23 CD160 CD28 EOMES IL7R LAG3 PTPRC

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

Search Clinical Trials , 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 20)
# Title Authors PMID Year
1
Seven new loci associated with age-related macular degeneration. 57 6
23455636 2013
2
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 57 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. 6 57
16174643 2005
4
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 57
21909106 2011
5
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
6
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
7
Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. 57
18535016 2008
8
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. 6
18511946 2008
9
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. 6
17884985 2007
10
A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. 57
17210852 2007
11
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 6
16936732 2006
12
Susceptibility genes for age-related maculopathy on chromosome 10q26. 57
16080115 2005
13
Meta-analysis of genome scans of age-related macular degeneration. 57
15987700 2005
14
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 57
15168325 2004
15
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 57
14758336 2004
16
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. 57
12945014 2003
17
Age-related macular degeneration--a genome scan in extended families. 57
12900797 2003
18
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis. 61
29032195 2017
19
Auckland cataract study 2: clinical outcomes of phacoemulsification cataract surgery in a public teaching hospital. 61
28168827 2017
20
[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 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARMS2 ARMS2, 443-BP DEL/54-BP INS Indel risk factor 980 GRCh37:
GRCh38:
2 ARMS2 NM_001099667.3(ARMS2):c.*15A>G SNV Uncertain significance 299034 rs886046771 GRCh37: 10:124216464-124216464
GRCh38: 10:122456948-122456948
3 ARMS2 NM_001099667.3(ARMS2):c.*251T>C SNV Uncertain significance 299037 rs578150200 GRCh37: 10:124216700-124216700
GRCh38: 10:122457184-122457184
4 ARMS2 NM_001099667.3(ARMS2):c.-60G>T SNV Uncertain significance 299027 rs886046769 GRCh37: 10:124214184-124214184
GRCh38: 10:122454668-122454668
5 ARMS2 NM_001099667.3(ARMS2):c.23C>T (p.Pro8Leu) SNV Uncertain significance 878185 GRCh37: 10:124214266-124214266
GRCh38: 10:122454750-122454750
6 ARMS2 NM_001099667.3(ARMS2):c.39G>A (p.Ala13=) SNV Uncertain significance 878186 GRCh37: 10:124214282-124214282
GRCh38: 10:122454766-122454766
7 ARMS2 NM_001099667.3(ARMS2):c.*399A>G SNV Uncertain significance 880002 GRCh37: 10:124216848-124216848
GRCh38: 10:122457332-122457332
8 ARMS2 NM_001099667.3(ARMS2):c.*313G>C SNV Uncertain significance 880000 GRCh37: 10:124216762-124216762
GRCh38: 10:122457246-122457246
9 ARMS2 NM_001099667.3(ARMS2):c.*45T>G SNV Likely benign 879637 GRCh37: 10:124216494-124216494
GRCh38: 10:122456978-122456978
10 ARMS2 NM_001099667.3(ARMS2):c.*107T>G SNV Likely benign 879638 GRCh37: 10:124216556-124216556
GRCh38: 10:122457040-122457040
11 ARMS2 NM_001099667.3(ARMS2):c.*161C>T SNV Likely benign 299035 rs536799180 GRCh37: 10:124216610-124216610
GRCh38: 10:122457094-122457094
12 ARMS2 NM_001099667.3(ARMS2):c.-9G>A SNV Likely benign 878184 GRCh37: 10:124214235-124214235
GRCh38: 10:122454719-122454719
13 ARMS2 NM_001099667.3(ARMS2):c.*204C>A SNV Likely benign 299036 rs79134213 GRCh37: 10:124216653-124216653
GRCh38: 10:122457137-122457137
14 ARMS2 NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) SNV Benign 299029 rs2736911 GRCh37: 10:124214355-124214355
GRCh38: 10:122454839-122454839
15 ARMS2 NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) SNV Benign 979 rs10490924 GRCh37: 10:124214448-124214448
GRCh38: 10:122454932-122454932
16 ARMS2 NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) SNV Benign 299028 rs10490923 GRCh37: 10:124214251-124214251
GRCh38: 10:122454735-122454735
17 ARMS2 NM_001099667.3(ARMS2):c.298-13A>G SNV Benign 299031 rs7088128 GRCh37: 10:124216410-124216410
GRCh38: 10:122456894-122456894
18 ARMS2 NM_001099667.3(ARMS2):c.298-13A>T SNV Benign 299032 rs7088128 GRCh37: 10:124216410-124216410
GRCh38: 10:122456894-122456894
19 ARMS2 NM_001099667.3(ARMS2):c.*373T>G SNV Benign 299038 rs4752698 GRCh37: 10:124216822-124216822
GRCh38: 10:122457306-122457306
20 ARMS2 NM_001099667.3(ARMS2):c.*376T>C SNV Benign 299039 rs2672602 GRCh37: 10:124216825-124216825
GRCh38: 10:122457309-122457309
21 ARMS2 NM_001099667.3(ARMS2):c.*385A>C SNV Benign 299041 rs2672603 GRCh37: 10:124216834-124216834
GRCh38: 10:122457318-122457318
22 ARMS2 NM_001099667.3(ARMS2):c.*374G>T SNV Benign 880001 GRCh37: 10:124216823-124216823
GRCh38: 10:122457307-122457307

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

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 16)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.91 LAG3 KLRG1 HAVCR2 EOMES CD160
2 adaptive immune response GO:0002250 9.86 LAG3 HAVCR2 EOMES CD160
3 defense response to Gram-positive bacterium GO:0050830 9.67 TNF IL7R HAVCR2
4 positive regulation of interferon-gamma production GO:0032729 9.58 TNF HAVCR2 CD160
5 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.55 TNF PTPRC
6 cell surface receptor signaling pathway GO:0007166 9.55 PTPRC LAG3 KLRG1 IL7R CD28
7 positive regulation of natural killer cell mediated cytotoxicity GO:0045954 9.54 LAG3 CD160
8 positive regulation of T cell proliferation GO:0042102 9.54 PTPRC HAVCR2 CD28
9 positive regulation of interleukin-4 production GO:0032753 9.52 HAVCR2 CD28
10 negative thymic T cell selection GO:0045060 9.48 PTPRC CD28
11 positive regulation of alpha-beta T cell proliferation GO:0046641 9.46 PTPRC CD28
12 negative regulation of T cell mediated cytotoxicity GO:0001915 9.43 PTPRC IL7R
13 T cell differentiation GO:0030217 9.43 TBX21 PTPRC IL7R
14 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.32 TNF PTPRC
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.13 TBX21 PTPRC CD28
16 negative regulation of interleukin-2 production GO:0032703 8.92 TBX21 PTPRC LAG3 HAVCR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 TNF TBX21 SUPT20H PTPRC MMUT LAG3

Sources for Macular Degeneration, Age-Related, 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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