MCID: MCL078
MIFTS: 25

Macular Degeneration, Age-Related, 14

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 14

MalaCards integrated aliases for Macular Degeneration, Age-Related, 14:

Name: Macular Degeneration, Age-Related, 14 57 75 73
Armd14 57 12 75
Age-Related Macular Degeneration 14 29 6
Macular Degeneration, Age-Related, 14, Reduced Risk of 57
Macular Degeneration, Age-Related, Type 14 40
Age Related Macular Degeneration 14 12

Classifications:



External Ids:

OMIM 57 615489
Disease Ontology 12 DOID:0110026
MeSH 44 D008268
UMLS 73 C3809653

Summaries for Macular Degeneration, Age-Related, 14

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 14: 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, 14, also known as armd14, is related to complement component 2 deficiency and retinal drusen. An important gene associated with Macular Degeneration, Age-Related, 14 is C2 (Complement C2), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Affiliated tissues include eye, and related phenotype is Negative genetic interaction between PTTG1-/- and PTTG1+/+.

Disease Ontology : 12 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.

Description from OMIM: 615489

Related Diseases for Macular Degeneration, Age-Related, 14

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 14

Clinical features from OMIM:

615489

GenomeRNAi Phenotypes related to Macular Degeneration, Age-Related, 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 C2 CFB

Drugs & Therapeutics for Macular Degeneration, Age-Related, 14

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 14

Genetic Tests for Macular Degeneration, Age-Related, 14

Genetic tests related to Macular Degeneration, Age-Related, 14:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 14 29 C2 CFB

Anatomical Context for Macular Degeneration, Age-Related, 14

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 14:

41
Eye

Publications for Macular Degeneration, Age-Related, 14

Variations for Macular Degeneration, Age-Related, 14

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C2 NM_000063.5(C2): c.1360+62G> T single nucleotide variant protective rs547154 GRCh37 Chromosome 6, 31910938: 31910938
2 C2 NM_000063.5(C2): c.1360+62G> T single nucleotide variant protective rs547154 GRCh38 Chromosome 6, 31943161: 31943161
3 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
4 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403

Expression for Macular Degeneration, Age-Related, 14

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 14.

Pathways for Macular Degeneration, Age-Related, 14

GO Terms for Macular Degeneration, Age-Related, 14

Biological processes related to Macular Degeneration, Age-Related, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.26 C2 CFB
2 innate immune response GO:0045087 9.16 C2 CFB
3 regulation of complement activation GO:0030449 8.96 C2 CFB
4 complement activation GO:0006956 8.62 C2 CFB

Molecular functions related to Macular Degeneration, Age-Related, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.16 C2 CFB
2 serine-type endopeptidase activity GO:0004252 8.96 C2 CFB
3 serine-type peptidase activity GO:0008236 8.62 C2 CFB

Sources for Macular Degeneration, Age-Related, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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