ARMD7
MCID: MCL041
MIFTS: 38

Macular Degeneration, Age-Related, 7 (ARMD7)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 7

MalaCards integrated aliases for Macular Degeneration, Age-Related, 7:

Name: Macular Degeneration, Age-Related, 7 57 72 13 70
Armd7 57 12 72
Age Related Macular Degeneration 7 12 15
Age-Related Macular Degeneration 7 29 6
Susceptibility to Neovascular Type of Age-Related Macular Degeneration 6
Macular Degeneration, Age-Related, Neovascular Type} 29
Macular Degeneration, Age-Related, Neovascular Type 57
Macular Degeneration, Age-Related, Type 7 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110019
OMIM® 57 610149
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
UMLS 70 C1857813

Summaries for Macular Degeneration, Age-Related, 7

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 7: 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, 7, also known as armd7, is related to pattern dystrophy and spastic ataxia 8. An important gene associated with Macular Degeneration, Age-Related, 7 is HTRA1 (HtrA Serine Peptidase 1), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include eye, 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 conferred by variation in the HTRA1 gene on chromosome 10q26.

More information from OMIM: 610149 PS603075

Related Diseases for Macular Degeneration, Age-Related, 7

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 pattern dystrophy 10.2 OTX2 HTRA1
2 spastic ataxia 8 10.2 PAX6 OTX2
3 enhanced s-cone syndrome 10.1 RPE65 OTX2 NRL
4 exotropia 10.1 RPE65 PAX6
5 spermatogenic failure, y-linked, 1 10.1 POU5F1 KLF4
6 vitreous disease 10.0 RPE65 PAX6 OTX2
7 iris disease 10.0 PAX6 OTX2
8 eye degenerative disease 10.0 RPE65 PAX6 NRL
9 achromatopsia 10.0 RPE65 PAX6 NRL
10 pathologic nystagmus 10.0 RPE65 PAX6 OTX2
11 dysgerminoma of ovary 10.0 POU5F1 NANOG
12 epilepsy, idiopathic generalized 15 10.0 SOX2 KLF4
13 malignant giant cell tumor of soft parts 10.0 POU5F1 NANOG
14 cardiomyopathy, familial hypertrophic, 25 10.0 POU5F1 NANOG
15 mature teratoma 9.9 POU5F1 NANOG
16 duane-radial ray syndrome 9.9 POU5F1 NANOG
17 optic nerve hypoplasia, bilateral 9.9 RPE65 PAX6 OTX2 NRL
18 microphthalmia, syndromic 8 9.9 SOX2 PAX6 OTX2
19 nanophthalmos 9.9 RPE65 PAX6 OTX2 NRL
20 fryns microphthalmia syndrome 9.9 SOX2 PAX6 OTX2
21 microphthalmia, isolated 3 9.9 SOX2 PAX6 OTX2
22 spermatocytoma 9.9 POU5F1 NANOG
23 microphthalmia, isolated 2 9.9 SOX2 PAX6 OTX2
24 microphthalmia, syndromic 3 9.9 SOX2 PAX6 OTX2
25 syndromic microphthalmia 9.9 SOX2 PAX6 OTX2
26 septooptic dysplasia 9.9 SOX2 PAX6 OTX2
27 aniridia 1 9.9 SOX2 PAX6 OTX2
28 retinal disease 9.9 RPE65 PAX6 NRL MITF
29 leber plus disease 9.8 RPE65 PAX6 OTX2 NRL
30 coloboma of macula 9.8 SOX2 PAX6 OTX2
31 stachybotrys chartarum 9.8 IL1A IL18
32 inflammatory bowel disease 28 9.7 SOX2 POU5F1 KLF4
33 malignant teratoma 9.7 SOX2 POU5F1 NANOG
34 parkinson disease 17 9.7 SOX2 POU5F1 NANOG
35 microphthalmia 9.7 SOX2 PAX6 OTX2 MITF
36 tyrosinemia 9.7 SOX2 POU5F1 NANOG
37 chlamydia 9.7 IL1A IL18 HTRA1
38 seminoma 9.7 SOX2 POU5F1 NANOG
39 neuropathy, hereditary sensory and autonomic, type iii 9.6 SOX2 KLF4
40 pulpitis 9.6 IL1A IL18
41 embryonal carcinoma 9.6 SOX2 POU5F1 NANOG
42 pelizaeus-merzbacher disease 9.5 SOX2 POU5F1 NANOG KLF4
43 germ cell cancer 9.5 SOX2 POU5F1 NANOG KLF4
44 eye disease 9.5 RPE65 PAX6 NRL IL1A HTRA1
45 glycogen storage disease 9.4 SOX2 POU5F1 NANOG
46 germ cell and embryonal cancer 9.3 SOX2 POU5F1 PAX6 NANOG KLF4
47 fundus dystrophy 9.2 SOX2 RPE65 PAX6 OTX2 NRL MITF
48 medulloblastoma 9.1 SOX2 POU5F1 PAX6 OTX2 NANOG KLF4
49 macular degeneration, age-related, 1 8.9 SOX2 RPE65 PAX6 OTX2 NRL KLF4
50 retinitis pigmentosa 8.6 SOX2 RPE65 POU5F1 PAX6 OTX2 NRL

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 7:



Diseases related to Macular Degeneration, Age-Related, 7

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 7

Clinical features from OMIM®:

610149 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.36 IL18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.36 MITF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.36 KLF4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.36 MITF
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.36 KLF4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.36 IL18
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.36 IL18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.36 KLF4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.36 IL18 KLF4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.36 IL18

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 IL18 KLF4 MITF NRL OTX2 PAX6
2 cellular MP:0005384 10.01 IL18 KLF4 MITF NANOG OTX2 PAX6
3 nervous system MP:0003631 9.91 IL18 KLF4 MITF NRL OTX2 PAX6
4 integument MP:0010771 9.87 IL18 IL1A KLF4 MITF PAX6 POU5F1
5 digestive/alimentary MP:0005381 9.85 IL18 KLF4 OTX2 PAX6 POU5F1 SOX2
6 pigmentation MP:0001186 9.63 MITF NRL OTX2 PAX6 RPE65 SOX2
7 vision/eye MP:0005391 9.28 HTRA1 IL18 KLF4 MITF NRL OTX2
8 taste/olfaction MP:0005394 9.13 OTX2 PAX6 SOX2

Drugs & Therapeutics for Macular Degeneration, Age-Related, 7

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 7

Genetic Tests for Macular Degeneration, Age-Related, 7

Genetic tests related to Macular Degeneration, Age-Related, 7:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 7 29 HTRA1
2 Macular Degeneration, Age-Related, Neovascular Type} 29

Anatomical Context for Macular Degeneration, Age-Related, 7

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 7:

40
Eye

Publications for Macular Degeneration, Age-Related, 7

Articles related to Macular Degeneration, Age-Related, 7:

(show all 15)
# Title Authors PMID Year
1
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. 57 6
18511946 2008
2
Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population. 6 57
17568988 2007
3
HTRA1 promoter polymorphism in wet age-related macular degeneration. 6 57
17053108 2006
4
A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. 6 57
17053109 2006
5
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
6
Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. 57
18535016 2008
7
Bringing age-related macular degeneration into focus. 57
18583975 2008
8
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. 57
17884985 2007
9
Meta-analysis of genome scans of age-related macular degeneration. 57
15987700 2005
10
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 57
14758336 2004
11
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. 57
12945014 2003
12
Age-related macular degeneration--a genome scan in extended families. 57
12900797 2003
13
Oral Tyrosine Kinase Inhibitor for Neovascular Age-Related Macular Degeneration: A Phase 1 Dose-Escalation Study. 61
28570723 2017
14
Survey of referrals and medical reports in optometric practices in Norway: midterm findings from a 3-year prospective Internet-based study. 61
30319304 2017
15
[Cataract in persons over 90 years old]. 61
15646478 2004

Variations for Macular Degeneration, Age-Related, 7

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTRA1 NM_002775.4(HTRA1):c.-625G>A SNV risk factor 7486 rs11200638 GRCh37: 10:124220544-124220544
GRCh38: 10:122461028-122461028
2 HTRA1 NM_002775.4(HTRA1):c.-625G>A SNV risk factor 7486 rs11200638 GRCh37: 10:124220544-124220544
GRCh38: 10:122461028-122461028

Expression for Macular Degeneration, Age-Related, 7

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 7.

Pathways for Macular Degeneration, Age-Related, 7

Pathways related to Macular Degeneration, Age-Related, 7 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.07 SOX2 POU5F1 NANOG KLF4
2 12.01 SOX2 POU5F1 NANOG IL1A
3
Show member pathways
11.97 SOX2 POU5F1 NANOG
4
Show member pathways
11.91 SOX2 POU5F1 PAX6 OTX2 NANOG KLF4
5 11.81 SOX2 NANOG IL1A IL18
6 11.71 SOX2 POU5F1 PAX6 NANOG KLF4
7 11.48 SOX2 POU5F1 NANOG KLF4
8 11.4 SOX2 POU5F1 PAX6 NANOG
9 11.35 SOX2 POU5F1 PAX6 NANOG
10 11.29 SOX2 POU5F1 PAX6 OTX2 NANOG MITF
11
Show member pathways
11.25 SOX2 POU5F1 NANOG KLF4
12 11.03 SOX2 OTX2
13 10.84 IL1A IL18
14 10.84 SOX2 POU5F1 NANOG
15
Show member pathways
10.54 SOX2 POU5F1 NANOG
16 10.37 IL1A IL18

GO Terms for Macular Degeneration, Age-Related, 7

Cellular components related to Macular Degeneration, Age-Related, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.65 SOX2 RPE65 POU5F1 PAX6 NRL MITF
2 transcription factor complex GO:0005667 9.33 SOX2 POU5F1 KLF4
3 chromatin GO:0000785 9.23 SOX2 POU5F1 PAX6 OTX2 NRL NANOG

Biological processes related to Macular Degeneration, Age-Related, 7 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.02 POU5F1 PAX6 OTX2 NRL NANOG MITF
2 cell differentiation GO:0030154 9.97 SOX2 PAX6 NANOG MITF KLF4
3 positive regulation of transcription, DNA-templated GO:0045893 9.97 SOX2 PAX6 OTX2 MITF KLF4
4 regulation of transcription, DNA-templated GO:0006355 9.95 SOX2 POU5F1 PAX6 OTX2 NRL NANOG
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 SOX2 POU5F1 PAX6 NANOG MITF KLF4
6 multicellular organism development GO:0007275 9.91 SOX2 POU5F1 PAX6 OTX2 NRL NANOG
7 cytokine-mediated signaling pathway GO:0019221 9.86 SOX2 NANOG IL1A IL18
8 visual perception GO:0007601 9.77 RPE65 PAX6 NRL
9 regulation of gene expression GO:0010468 9.73 SOX2 RPE65 POU5F1 PAX6 NANOG MITF
10 response to wounding GO:0009611 9.72 SOX2 POU5F1 PAX6
11 forebrain development GO:0030900 9.7 SOX2 PAX6 OTX2
12 cell fate commitment GO:0045165 9.69 SOX2 PAX6 MITF
13 camera-type eye development GO:0043010 9.67 RPE65 PAX6 MITF
14 somatic stem cell population maintenance GO:0035019 9.62 SOX2 POU5F1 NANOG KLF4
15 pituitary gland development GO:0021983 9.58 SOX2 PAX6
16 positive regulation of core promoter binding GO:1904798 9.54 PAX6 KLF4
17 positive regulation of gene expression GO:0010628 9.5 POU5F1 PAX6 NRL MITF KLF4 IL1A
18 regulation of asymmetric cell division GO:0009786 9.46 POU5F1 PAX6
19 endodermal cell fate specification GO:0001714 9.33 SOX2 POU5F1 NANOG
20 positive regulation of transcription by RNA polymerase II GO:0045944 9.32 SOX2 POU5F1 PAX6 OTX2 NRL NANOG

Molecular functions related to Macular Degeneration, Age-Related, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.01 SOX2 POU5F1 PAX6 OTX2 NRL NANOG
2 sequence-specific double-stranded DNA binding GO:1990837 9.85 POU5F1 PAX6 OTX2 NRL NANOG KLF4
3 sequence-specific DNA binding GO:0043565 9.76 SOX2 POU5F1 PAX6 KLF4
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 SOX2 POU5F1 PAX6 OTX2 NRL NANOG
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.73 POU5F1 PAX6 NANOG MITF
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 SOX2 PAX6 OTX2 NRL MITF KLF4
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.72 SOX2 POU5F1 PAX6 NANOG KLF4
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 SOX2 POU5F1 PAX6 OTX2 NRL NANOG
9 miRNA binding GO:0035198 9.48 SOX2 POU5F1
10 DNA-binding transcription factor activity GO:0003700 9.23 SOX2 POU5F1 PAX6 OTX2 NRL NANOG

Sources for Macular Degeneration, Age-Related, 7

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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