MCID: MCL077
MIFTS: 16

Macular Degeneration, Age-Related, 5

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 5

MalaCards integrated aliases for Macular Degeneration, Age-Related, 5:

Name: Macular Degeneration, Age-Related, 5 57 75 73
Armd5 57 12 75
Age-Related Macular Degeneration 5 29 6
Macular Degeneration, Age-Related, Susceptibility to, 5 57
Macular Degeneration, Age-Related, Susceptibility to 5 13
Macular Degeneration, Age-Related, Type 5 40
Macular Degeneration, Age-Related 5 57
Age Related Macular Degeneration 5 12

Classifications:



External Ids:

OMIM 57 613761
Disease Ontology 12 DOID:0110028
MedGen 42 C3151063
MeSH 44 D008268
UMLS 73 C3151063

Summaries for Macular Degeneration, Age-Related, 5

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 5: 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, 5, is also known as armd5. An important gene associated with Macular Degeneration, Age-Related, 5 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include eye.

Disease Ontology : 12 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.

Description from OMIM: 613761

Related Diseases for Macular Degeneration, Age-Related, 5

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 5

Clinical features from OMIM:

613761

Drugs & Therapeutics for Macular Degeneration, Age-Related, 5

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 5

Genetic Tests for Macular Degeneration, Age-Related, 5

Genetic tests related to Macular Degeneration, Age-Related, 5:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 5 29 ERCC6

Anatomical Context for Macular Degeneration, Age-Related, 5

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 5:

41
Eye

Publications for Macular Degeneration, Age-Related, 5

Variations for Macular Degeneration, Age-Related, 5

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.-546C> G single nucleotide variant risk factor rs3793784 GRCh37 Chromosome 10, 50747539: 50747539
2 ERCC6 NM_000124.3(ERCC6): c.-546C> G single nucleotide variant risk factor rs3793784 GRCh38 Chromosome 10, 49539493: 49539493
3 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
4 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
5 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
6 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
7 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
8 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564

Expression for Macular Degeneration, Age-Related, 5

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 5.

Pathways for Macular Degeneration, Age-Related, 5

GO Terms for Macular Degeneration, Age-Related, 5

Sources for Macular Degeneration, Age-Related, 5

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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