MCID: MCL038
MIFTS: 15

Macular Degeneration, Age-Related, 4

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 4

MalaCards integrated aliases for Macular Degeneration, Age-Related, 4:

Name: Macular Degeneration, Age-Related, 4 57 75 13 73
Armd4 57 12 75
Age-Related Macular Degeneration 4 29 6
Macular Degeneration, Age-Related, Type 4 40
Age Related Macular Degeneration 4 12

Characteristics:

HPO:

32
macular degeneration, age-related, 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 57 610698
Disease Ontology 12 DOID:0110017
MedGen 42 C1853147
MeSH 44 D008268
SNOMED-CT via HPO 69 267718000
UMLS 73 C1853147

Summaries for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 4: 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, 4, is also known as armd4. An important gene associated with Macular Degeneration, Age-Related, 4 is CFH (Complement Factor H). Affiliated tissues include eye, and related phenotype is age-related macular degeneration.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.

Description from OMIM: 610698

Related Diseases for Macular Degeneration, Age-Related, 4

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 4

Clinical features from OMIM:

610698

Human phenotypes related to Macular Degeneration, Age-Related, 4:

32
# Description HPO Frequency HPO Source Accession
1 age-related macular degeneration 32 HP:0007868

Drugs & Therapeutics for Macular Degeneration, Age-Related, 4

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 4

Genetic Tests for Macular Degeneration, Age-Related, 4

Genetic tests related to Macular Degeneration, Age-Related, 4:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 4 29 CFH

Anatomical Context for Macular Degeneration, Age-Related, 4

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 4:

41
Eye

Publications for Macular Degeneration, Age-Related, 4

Variations for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 4:

75
# Symbol AA change Variation ID SNP ID
1 CFH p.Arg1210Cys VAR_025885

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.1204C= (p.His402=) single nucleotide variant Pathogenic,risk factor rs1061170 GRCh37 Chromosome 1, 196659237: 196659237
2 CFH NM_000186.3(CFH): c.1204C= (p.His402=) single nucleotide variant Pathogenic,risk factor rs1061170 GRCh38 Chromosome 1, 196690107: 196690107
3 CFH NM_000186.3(CFH): c.1419G> C (p.Ala473=) single nucleotide variant risk factor rs2274700 GRCh37 Chromosome 1, 196682947: 196682947
4 CFH NM_000186.3(CFH): c.1419G> C (p.Ala473=) single nucleotide variant risk factor rs2274700 GRCh38 Chromosome 1, 196713817: 196713817
5 CFH NM_000186.3(CFH): c.2237-543G= single nucleotide variant risk factor rs1410996 GRCh37 Chromosome 1, 196696933: 196696933
6 CFH NM_000186.3(CFH): c.2237-543G= single nucleotide variant risk factor rs1410996 GRCh38 Chromosome 1, 196727803: 196727803
7 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
8 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh38 Chromosome 1, 196747245: 196747245
9 CFH NM_000186.3(CFH): c.1507C> G (p.Pro503Ala) single nucleotide variant risk factor rs570523689 GRCh38 Chromosome 1, 196713905: 196713905
10 CFH NM_000186.3(CFH): c.1507C> G (p.Pro503Ala) single nucleotide variant risk factor rs570523689 GRCh37 Chromosome 1, 196683035: 196683035

Expression for Macular Degeneration, Age-Related, 4

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 4.

Pathways for Macular Degeneration, Age-Related, 4

GO Terms for Macular Degeneration, Age-Related, 4

Sources for Macular Degeneration, Age-Related, 4

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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