ARMD11
MCID: MCL032
MIFTS: 18

Macular Degeneration, Age-Related, 11 (ARMD11)

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

Aliases & Classifications for Macular Degeneration, Age-Related, 11

MalaCards integrated aliases for Macular Degeneration, Age-Related, 11:

Name: Macular Degeneration, Age-Related, 11 57 72 13
Armd11 57 12 72
Age-Related Macular Degeneration 11 29 6
Macular Degeneration, Age-Related, Type 11 39
Age-Related Macular Degeneration Type 11 70
Age Related Macular Degeneration 11 12

Characteristics:

HPO:

31
macular degeneration, age-related, 11:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110023
OMIM® 57 611953
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C2677774
SNOMED-CT via HPO 68 422338006
UMLS 70 C2677774

Summaries for Macular Degeneration, Age-Related, 11

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 11: 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, 11, is also known as armd11. An important gene associated with Macular Degeneration, Age-Related, 11 is CST3 (Cystatin C). Affiliated tissues include eye, and related phenotype is macular degeneration.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.

More information from OMIM: 611953 PS603075

Related Diseases for Macular Degeneration, Age-Related, 11

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 11

Human phenotypes related to Macular Degeneration, Age-Related, 11:

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

Clinical features from OMIM®:

611953 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 11

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 11

Genetic Tests for Macular Degeneration, Age-Related, 11

Genetic tests related to Macular Degeneration, Age-Related, 11:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 11 29 CST3

Anatomical Context for Macular Degeneration, Age-Related, 11

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 11:

40
Eye

Publications for Macular Degeneration, Age-Related, 11

Articles related to Macular Degeneration, Age-Related, 11:

# Title Authors PMID Year
1
A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease. 57 6
25893795 2015
2
CST3 genotype associated with exudative age related macular degeneration. 6 57
11815350 2002
3
A dual Golgi- and mitochondria-localised Ala25Ser precursor cystatin C: an additional tool for characterising intracellular mis-localisation leading to increased AMD susceptibility. 57
16635487 2007
4
Unexpected intracellular localization of the AMD-associated cystatin C variant. 57
15479453 2004
5
REPRODUCIBILITY OF MACULAR PIGMENT OPTICAL DENSITY MEASUREMENT BY TWO-WAVELENGTH AUTOFLUORESCENCE IN A CLINICAL SETTING. 61
26655614 2016
6
Rapid and cost-effective method to assess vision disorders in a population. 61
16925698 2006
7
Basic investigations for 2-dimensional time-resolved fluorescence measurements at the fundus. 61
11944867 2001

Variations for Macular Degeneration, Age-Related, 11

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CST3 NM_000099.4(CST3):c.73G>A (p.Ala25Thr) SNV Conflicting interpretations of pathogenicity 5635 rs1064039 GRCh37: 20:23618427-23618427
GRCh38: 20:23637790-23637790

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 11:

72
# Symbol AA change Variation ID SNP ID
1 CST3 p.Ala25Thr VAR_011893 rs1064039

Expression for Macular Degeneration, Age-Related, 11

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 11.

Pathways for Macular Degeneration, Age-Related, 11

GO Terms for Macular Degeneration, Age-Related, 11

Sources for Macular Degeneration, Age-Related, 11

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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