MCID: MCL036
MIFTS: 15

Macular Degeneration, Age-Related, 6

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 6

MalaCards integrated aliases for Macular Degeneration, Age-Related, 6:

Name: Macular Degeneration, Age-Related, 6 57 75 13 73
Armd6 57 12 75
Age-Related Macular Degeneration 6 29 6
Macular Degeneration, Age-Related, Type 6 40
Age Related Macular Degeneration 6 12

Classifications:



External Ids:

OMIM 57 613757
Disease Ontology 12 DOID:0110018
MedGen 42 C3151060
MeSH 44 D008268
SNOMED-CT via HPO 69 422338006
UMLS 73 C3151060

Summaries for Macular Degeneration, Age-Related, 6

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 6: 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, 6, is also known as armd6. An important gene associated with Macular Degeneration, Age-Related, 6 is RAX2 (Retina And Anterior Neural Fold Homeobox 2). Affiliated tissues include eye, and related phenotype is macular degeneration.

Disease Ontology : 12 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.

Description from OMIM: 613757

Related Diseases for Macular Degeneration, Age-Related, 6

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 6

Clinical features from OMIM:

613757

Human phenotypes related to Macular Degeneration, Age-Related, 6:

32
# Description HPO Frequency HPO Source Accession
1 macular degeneration 32 HP:0000608

Drugs & Therapeutics for Macular Degeneration, Age-Related, 6

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 6

Genetic Tests for Macular Degeneration, Age-Related, 6

Genetic tests related to Macular Degeneration, Age-Related, 6:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 6 29 RAX2

Anatomical Context for Macular Degeneration, Age-Related, 6

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 6:

41
Eye

Publications for Macular Degeneration, Age-Related, 6

Variations for Macular Degeneration, Age-Related, 6

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 6:

75
# Symbol AA change Variation ID SNP ID
1 RAX2 p.Arg87Gln VAR_031907 rs121908280

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAX2 NM_032753.3(RAX2): c.260G> A (p.Arg87Gln) single nucleotide variant Pathogenic rs121908280 GRCh37 Chromosome 19, 3770914: 3770914
2 RAX2 NM_032753.3(RAX2): c.260G> A (p.Arg87Gln) single nucleotide variant Pathogenic rs121908280 GRCh38 Chromosome 19, 3770916: 3770916
3 RAX2 NM_032753.3(RAX2): c.344C> A (p.Ser115Ter) single nucleotide variant Pathogenic rs398124431 GRCh37 Chromosome 19, 3770830: 3770830
4 RAX2 NM_032753.3(RAX2): c.344C> A (p.Ser115Ter) single nucleotide variant Pathogenic rs398124431 GRCh38 Chromosome 19, 3770832: 3770832

Expression for Macular Degeneration, Age-Related, 6

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 6.

Pathways for Macular Degeneration, Age-Related, 6

GO Terms for Macular Degeneration, Age-Related, 6

Sources for Macular Degeneration, Age-Related, 6

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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