MCID: MCL042
MIFTS: 79

Macular Degeneration, Age-Related, 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 1

MalaCards integrated aliases for Macular Degeneration, Age-Related, 1:

Name: Macular Degeneration, Age-Related, 1 53 71 37 69
Macular Degeneration 38 12 72 49 28 40 41 14 69
Age-Related Macular Degeneration 12 49 24 36 28 59
Age Related Macular Degeneration 38 37 12 14 69
Macular Degeneration, Age-Related 53 72 24
Armd1 53 12 71
Age Related Macular Degeneration 1 12 14
Age-Related Maculopathy 49 24
Amd 49 24
Macular Degeneration, Age-Related, Reduced Risk of 53
Age-Related Maculopathy, Susceptibility to 13
Macular Degeneration, Age-Related, 2 69
Senile Macular Retinal Degeneration 12
Age-Related Macular Degeneration 1 28
Macular Degeneration of Retina 12
Maculopathy, Age-Related, 1 53
Senile Macular Degeneration 12
Age Related Maculopathy 1 12
Wet Macular Degeneration 41
Maculopathy Age-Related 51
Armd 24
Arm 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
earliest symptom onset in sixth decade of life
diagnosis in seventh decade of life


HPO:

31
macular degeneration, age-related, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macular Degeneration, Age-Related, 1

NIH Rare Diseases : 49 Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition. Last updated: 10/7/2013

MalaCards based summary : Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to kuhnt-junius degeneration and macular degeneration, age-related, 5, and has symptoms including vision loss, progressive visual loss and foveal hypopigmentation. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (Hemicentin 1), and among its related pathways/superpathways are Complement and coagulation cascades and Creation of C4 and C2 activators. Affiliated tissues include Eye and Eye, and related phenotypes are homeostasis/metabolism and hematopoietic system

Disease Ontology : 12 A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has symptom vision loss.

Genetics Home Reference : 24 Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.

OMIM : 53 Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). (603075)

MedlinePlus : 40 Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute

UniProtKB/Swiss-Prot : 71 Macular degeneration, age-related, 1: 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.

PubMed Health : 59
About age-related macular degeneration: It is normal for vision to gradually worsen with age. Some people also have medical conditions that further affect their vision or may even lead to blindness. One possible cause of worsening vision is age-related macular degeneration (AMD).AMD is a chronic condition that usually affects both eyes and is brought about by a metabolic disorder. It develops in the macula, the part of the eye especially important for seeing sharp images. Vision loss usually only occurs as a result of a more advanced form of AMD. There are two types of AMD: “dry” and “wet.” Wet AMD causes vision loss more quickly. Neither can be cured. But treatment for wet AMD can help to keep and sometimes even improve vision, or at least slow down the progression of the disease.

Wikipedia : 72 Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Related Diseases for Macular Degeneration, Age-Related, 1

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 33.4 ARMS2 CFB CFH VEGFA VEGFB
2 macular degeneration, age-related, 5 12.7
3 macular degeneration, age-related, 7 12.6
4 macular degeneration, age-related, 15 12.6
5 macular degeneration, age-related, 2 12.6
6 macular degeneration, age-related, 4 12.6
7 macular degeneration, age-related, 9 12.6
8 macular degeneration, age-related, 10 12.6
9 macular degeneration, age-related, 6 12.6
10 macular degeneration, age-related, 8 12.6
11 macular degeneration, age-related, 12 12.6
12 macular degeneration, age-related, 13 12.6
13 macular degeneration, age-related, 14 12.6
14 macular degeneration, age-related, 11 12.6
15 neuropathy, hereditary, with or without age-related macular degeneration 12.0
16 glycogen storage disease ii 11.7
17 stargardt disease 1 10.9
18 adrenomyodystrophy 10.9
19 langerhans cell histiocytosis 10.9
20 bone marrow failure syndrome 2 10.9
21 c3 glomerulopathy 10.7 CFB CFHR1 CFHR3
22 multifocal choroiditis 10.7 ARMS2 CFB CFH
23 hemolytic uremic syndrome, atypical 1 10.7 CFH CFHR1 CFHR3
24 de novo thrombotic microangiopathy after kidney transplantation 10.7 CFH CFI
25 familial drusen 10.7 CFH CFI EFEMP1
26 complement factor h deficiency 10.7 CFH CFHR1 CFI
27 choroiditis 10.7 ARMS2 CFB CFH
28 retinal drusen 10.7 ARMS2 CFB CFH EFEMP1
29 severe early-childhood-onset retinal dystrophy 10.7 ABCA4 RPE65
30 yemenite deaf-blind hypopigmentation syndrome 10.7 ABCA4 CFH RPE65 VEGFA
31 macular dystrophy, dominant cystoid 10.7 BEST1 MFRP VEGFA
32 enterocolitis 10.7 CFB CFH CFI
33 stargardt macular degeneration 10.7 ABCA4 ELOVL4
34 rhyns syndrome 10.7 ABCA4 BEST1 RPE65
35 hemolytic-uremic syndrome 10.6 CFB CFH CFHR1 CFHR3 CFI
36 dense deposit disease 10.6 CFB CFH
37 stargardt disease 10.6 ABCA4 ELOVL4 RPE65
38 nervous system disease 10.6 APOE CFH MFRP VEGFA
39 vitreous detachment 10.6 OPTC VEGFA
40 cone-rod dystrophy 2 10.6 ABCA4 RPE65 TIMP3
41 central serous chorioretinopathy 10.6 ARMS2 CFH
42 basal laminar drusen 10.6 CFH HMCN1
43 retinal degeneration 10.6 ABCA4 BEST1 MFRP RPE65
44 fundus dystrophy 10.6 ABCA4 BEST1 EFEMP1 MFRP RPE65 TIMP3
45 leber congenital amaurosis 10.6 ABCA4 BEST1 ELOVL4 MFRP RPE65
46 retinal disease 10.5 ABCA4 ARMS2 BEST1 CFB CFH ELOVL4
47 peripheral retinal degeneration 10.5 BEST1 TIMP3
48 doyne honeycomb retinal dystrophy 10.5 EFEMP1 ELOVL4
49 retinitis pigmentosa 10.5 ABCA4 APOE ARMS2 BEST1 ELOVL4 MFRP
50 acute hemorrhagic leukoencephalitis 10.4 CFI VEGFA

Comorbidity relations with Macular Degeneration, Age-Related, 1 via Phenotypic Disease Network (PDN): (show all 11)


Acute Cystitis Brain Small Vessel Disease with or Without Ocular Anomalies
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypertension, Essential
Hypothyroidism Ischemic Heart Disease
Osteoporosis Schizophreniform Disorder
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 1:



Diseases related to Macular Degeneration, Age-Related, 1

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 1

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
choroidal neovascularization (in some patients)
progressive vision loss
foveal hypopigmentation (in presymptomatic younger patients)
macular hemorrhage (in some patients)
large, soft, confluent drusen (in some patients)
more

Clinical features from OMIM:

603075

Symptoms:

12
  • vision loss

Human phenotypes related to Macular Degeneration, Age-Related, 1:

31
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 foveal hypopigmentation 31 HP:0012643

UMLS symptoms related to Macular Degeneration, Age-Related, 1:


equilibration disorder, tremor, angina pectoris

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ABCA4 APOE CFB CFH CFI EFEMP1
2 hematopoietic system MP:0005397 10.07 TIMP3 VEGFA ABCA4 APOE CFB CFH
3 cardiovascular system MP:0005385 10.06 ABCA4 APOE CFH EFEMP1 OPTC PLEKHA1
4 pigmentation MP:0001186 9.91 ABCA4 APOE BEST1 CFH EFEMP1 ELOVL4
5 renal/urinary system MP:0005367 9.7 APOE CFB CFH CFI EFEMP1 TIMP3
6 reproductive system MP:0005389 9.56 APOE BEST1 CFB EFEMP1 ELOVL4 PLEKHA1
7 vision/eye MP:0005391 9.4 VEGFB ABCA4 APOE BEST1 CFH EFEMP1

Drugs & Therapeutics for Macular Degeneration, Age-Related, 1

PubMedHealth treatment related to Macular Degeneration, Age-Related, 1: 59

There is currently no effective treatment for dry macular degeneration.Wet AMD is typically treated with medicine that is injected into the eyeball to prevent blood vessel growth. This medicine is known as anti-vascular endothelial growth factor (anti-VEGF). Although this treatment cannot cure AMD, it can stop or at least slow down the progression. Sometimes vision even improves during treatment.Photodynamic therapy is less effective, and therefore no longer that common. Laser therapy is also only rarely used. It involves heating and destroying abnormal blood vessels with laser beams. Photodynamic therapy applies a combination of medication and laser beams. Both of these therapies are only very rarely suitable for treating wet AMD. They also have more side effects than anti-VEGF therapy.In some exceptional cases and when no other treatment has helped, abnormal blood vessels may be removed surgically.Dietary supplements containing a combination of different ingredients (vitamin C, vitamin E, zinc, copper, and lutein with zeaxanthin or beta carotene) may be able to slow the progression in people who are at greater risk of developing late-stage AMD.

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Macular Degeneration, Age-Related, 1 cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: macular degeneration

Genetic Tests for Macular Degeneration, Age-Related, 1

Genetic tests related to Macular Degeneration, Age-Related, 1:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 28
2 Age-Related Macular Degeneration 1 28 APOE CFHR1 CFHR3 HMCN1 PLEKHA1
3 Macular Degeneration 28

Anatomical Context for Macular Degeneration, Age-Related, 1

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 1:

38
Eye, Retina, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Macular Degeneration, Age-Related, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Potential therapeutic candidate, affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Potential therapeutic candidate, affected by disease
3 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Potential therapeutic candidate, affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Potential therapeutic candidate, affected by disease
6 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate

Publications for Macular Degeneration, Age-Related, 1

Articles related to Macular Degeneration, Age-Related, 1:

(show top 50) (show all 1560)
# Title Authors Year
1
Association of Retinal Vascular Caliber and Age-Related Macular Degeneration in Patients With the Acquired Immunodeficiency Syndrome. ( 29435590 )
2018
2
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. ( 29145636 )
2018
3
Dysfunctional autophagy in RPE, a contributing factor in age-related macular degeneration. ( 28055007 )
2017
4
Identification of ANGPT2 as a New Gene for Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in the Chinese and Japanese Populations. ( 28192798 )
2017
5
A Proinflammatory Function of Toll-Like Receptor 2 in the Retinal Pigment Epithelium as a Novel Target for Reducing Choroidal Neovascularization in Age-Related Macular Degeneration. ( 28739342 )
2017
6
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene. ( 28859202 )
2017
7
Is Choroidal or Scleral Thickness Related to Myopic Macular Degeneration? ( 28166316 )
2017
8
Loss of Function of P2X7 Receptor Scavenger Activity in Aging Mice: A Novel Model for Investigating the Early Pathogenesis of Age-Related Macular Degeneration. ( 28628761 )
2017
9
DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium. ( 28334846 )
2017
10
Peripheral Retinal Changes Associated withA Age-Related Macular Degeneration inA the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report Number 12 by theA Age-Related Eye Disease Study 2 Optos PEripheral RetinA (OPERA) Study Research Group. ( 28089680 )
2017
11
Association of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population. ( 27029644 )
2017
12
Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations. ( 27841854 )
2017
13
CYSTOID MACULAR EDEMA AND CYSTOID MACULAR DEGENERATION AS A RESULT OF MULTIPLE PATHOGENIC FACTORS IN THE SETTING OF CENTRAL SEROUS CHORIORETINOPATHY. ( 27902539 )
2017
14
MicroRNA Expression Analysis in Serum of Patients with Congenital Hemochromatosis and Age-Related Macular Degeneration (AMD). ( 28827515 )
2017
15
Incidence of Intermediate-stage Age-related Macular Degeneration in Patients With Acquired Immunodeficiency Syndrome. ( 28499708 )
2017
16
The Charles Bonnet Syndrome in Patients With Neovascular Age-Related Macular Degeneration: Association With Proton Pump Inhibitors. ( 28829845 )
2017
17
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. ( 28282489 )
2017
18
Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis. ( 27484132 )
2017
19
SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area. ( 27428740 )
2017
20
Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration. ( 28095090 )
2017
21
Bilateral Herpetic Keratitis After Bilateral Intravitreal Bevacizumab for Exudative Macular Degeneration. ( 28489722 )
2017
22
CD93 as a Potential Target in Neovascular Age-Related Macular Degeneration. ( 27859225 )
2017
23
Associations of cholesteryl ester transfer protein (CETP) gene variants with predisposition to age-related macular degeneration. ( 28918250 )
2017
24
Serum starvation of ARPE-19 changes the cellular distribution of cholesterol and Fibulin3 in patterns reminiscent of age-related macular degeneration. ( 29097185 )
2017
25
Association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V polymorphisms with retinal angiomatous proliferation compared with typical age-related macular degeneration: a meta-analysis. ( 28005184 )
2017
26
The Role of Posterior Vitreous Detachment and Vitreomacular Adhesion in Patients With Age-Related Macular Degeneration. ( 28297034 )
2017
27
Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration. ( 28558370 )
2017
28
ARMS2 A69S polymorphism is associated with the number of ranibizumab injections needed for exudative age-related macular degeneration in a pro re nata regimen during 4 years of follow-up. ( 28744656 )
2017
29
RESOLUTION OF TREATMENT-RESISTANT SUBRETINAL FLUID IN A PATIENT WITH EXUDATIVE AGE-RELATED MACULAR DEGENERATION FOLLOWING ENDOPHTHALMITIS. ( 28925926 )
2017
30
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease. ( 28288486 )
2017
31
Association of the DNA repair SMUG1 rs3087404 polymorphism and its interaction with high sensitivity C-reactive protein for age-related macular degeneration in Iranian patients. ( 28095127 )
2017
32
Activating the AKT2-nuclear factor-I_B-lipocalin-2 axis elicits an inflammatory response in age-related macular degeneration. ( 28026019 )
2017
33
Association of combined cigarette smoking and ARMS2/LOC387715 A69S polymorphisms with age-related macular degeneration: A meta-analysis. ( 28095100 )
2017
34
Circulating miRNAs as Potential Biomarkers of Age-Related Macular Degeneration. ( 28315863 )
2017
35
Metallothionein polymorphisms in a Northern Spanish population with neovascular and dry forms of age-related macular degeneration. ( 28635422 )
2017
36
Joint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH polymorphisms in age-related macular degeneration. ( 28095095 )
2017
37
Hyperhomocysteinemia and Age-related Macular Degeneration: Role of Inflammatory Mediators and Pyroptosis; A Proposal. ( 28735646 )
2017
38
AIF-independent parthanatos in the pathogenesis of dry age-related macular degeneration. ( 28055012 )
2017
39
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. ( 27879347 )
2017
40
Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration. ( 28750115 )
2017
41
Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. ( 28813576 )
2017
42
Association of Apolipoprotein E Polymorphisms with Age-related Macular Degeneration Subtypes: An Updated Systematic Review and Meta-analysis. ( 28889998 )
2017
43
Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis. ( 27269047 )
2016
44
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. ( 26733291 )
2016
45
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. ( 27196323 )
2016
46
CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration. ( 27404493 )
2016
47
Repressed SIRT1/PGC-1I+ pathway and mitochondrial disintegration in iPSC-derived RPE disease model of age-related macular degeneration. ( 27998274 )
2016
48
Association of Apolipoprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration. ( 26398858 )
2016
49
Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration. ( 26854823 )
2016
50
Ranibizumab Versus Bevacizumab for Neovascular Age-Related Macular Degeneration With an Incomplete Posterior Vitreous Detachment. ( 26692256 )
2016

Variations for Macular Degeneration, Age-Related, 1

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 1:

71
# Symbol AA change Variation ID SNP ID
1 HMCN1 p.Gln5345Arg VAR_024818 rs121434382

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln) single nucleotide variant risk factor rs1801581 GRCh37 Chromosome 1, 94512565: 94512565
2 ABCA4 NM_000350.2(ABCA4): c.67-2A> G single nucleotide variant Pathogenic rs398123339 GRCh37 Chromosome 1, 94578624: 94578624
3 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
4 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
5 HMCN1 NM_031935.2(HMCN1): c.4163delC (p.Pro1388Hisfs) deletion Pathogenic rs879255520 GRCh37 Chromosome 1, 185970523: 185970523

Copy number variations for Macular Degeneration, Age-Related, 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 26157 1 197500000 212100000 Copy number CFH Macular degeneration
2 26158 1 197500000 212100000 Copy number CFHR2 Macular degeneration
3 26159 1 197500000 212100000 Copy number CFHR5 Macular degeneration
4 26160 1 197500000 212100000 Copy number F13B Macular degeneration
5 39759 10 119100000 135374737 Copy number ARMS2 Macular degeneration
6 39760 10 119100000 135374737 Copy number HTRA1 Macular degeneration

Expression for Macular Degeneration, Age-Related, 1

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 1.

Pathways for Macular Degeneration, Age-Related, 1

GO Terms for Macular Degeneration, Age-Related, 1

Cellular components related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 APOE CFB CFH CFHR1 CFI EFEMP1
2 extracellular matrix GO:0031012 9.67 APOE EFEMP1 HMCN1 TIMP3
3 proteinaceous extracellular matrix GO:0005578 9.65 EFEMP1 HMCN1 OPTC TIMP3 VEGFA
4 blood microparticle GO:0072562 9.35 APOE CFB CFH CFHR1 CFHR3
5 extracellular space GO:0005615 9.32 APOE CFB CFH CFHR1 CFHR3 CFI
6 extracellular exosome GO:0070062 10.02 APOE CFB CFH CFHR1 CFHR3 CFI

Biological processes related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.83 ABCA4 BEST1 HMCN1 RPE65 TIMP3
2 platelet degranulation GO:0002576 9.67 TIMP3 VEGFA VEGFB
3 complement activation GO:0006956 9.58 CFB CFH CFHR1
4 artery morphogenesis GO:0048844 9.51 APOE VEGFA
5 eye photoreceptor cell development GO:0042462 9.48 MFRP VEGFA
6 detection of light stimulus involved in visual perception GO:0050908 9.46 BEST1 RPE65
7 retinoid metabolic process GO:0001523 9.43 ABCA4 APOE RPE65
8 induction of positive chemotaxis GO:0050930 9.37 VEGFA VEGFB
9 complement activation, alternative pathway GO:0006957 9.32 CFB CFH
10 regulation of complement activation GO:0030449 9.26 CFB CFH CFHR1 CFI
11 visual perception GO:0007601 9.17 ABCA4 BEST1 EFEMP1 HMCN1 MFRP RPE65
12 positive regulation of mast cell chemotaxis GO:0060754 9.16 VEGFA VEGFB

Molecular functions related to Macular Degeneration, Age-Related, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.26 APOE CFH VEGFA VEGFB
2 vascular endothelial growth factor receptor 2 binding GO:0043184 9.16 VEGFA VEGFB
3 vascular endothelial growth factor receptor 1 binding GO:0043183 8.62 VEGFA VEGFB

Sources for Macular Degeneration, Age-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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