MCID: MCL032
MIFTS: 15

Macular Degeneration, Age-Related, 11

Categories: Genetic diseases, Eye 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 53 71 13
Armd11 53 12 71
Age-Related Macular Degeneration Type 11 69
Age Related Macular Degeneration 11 12
Age-Related Macular Degeneration 11 28

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 53 611953
Disease Ontology 12 DOID:0110023
MedGen 39 C2677774
MeSH 41 D008268
SNOMED-CT via HPO 65 267718000
UMLS 69 C2677774

Summaries for Macular Degeneration, Age-Related, 11

UniProtKB/Swiss-Prot : 71 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, and has symptoms including age-related macular degeneration An important gene associated with Macular Degeneration, Age-Related, 11 is CST3 (Cystatin C). Affiliated tissues include eye.

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

Description from OMIM: 611953

Related Diseases for Macular Degeneration, Age-Related, 11

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

Clinical features from OMIM:

611953

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

31
# Description HPO Frequency HPO Source Accession
1 age-related macular degeneration 31 HP:0007868

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 28 CST3

Anatomical Context for Macular Degeneration, Age-Related, 11

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

38
Eye

Publications for Macular Degeneration, Age-Related, 11

Variations for Macular Degeneration, Age-Related, 11

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

71
# Symbol AA change Variation ID SNP ID
1 CST3 p.Ala25Thr VAR_011893 rs1064039

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CST3 NM_000099.3(CST3): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs1064039 GRCh37 Chromosome 20, 23618427: 23618427

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
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
Content
Loading form....