ARMD13
MCID: MCL052
MIFTS: 31

Macular Degeneration, Age-Related, 13 (ARMD13)

Categories: Blood diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 13

MalaCards integrated aliases for Macular Degeneration, Age-Related, 13:

Name: Macular Degeneration, Age-Related, 13 57 72 70
Macular Degeneration, Age-Related, 13, Susceptibility to 57 29 6
Armd13 57 12 72
Age Related Macular Degeneration 13 12 15
Age-Related Macular Degeneration 13 29 6
Macular Degeneration, Age-Related, Type 13 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
early onset of symptoms
disease steadily progressive
'dry' amd seen in most patients, however an exudative 'wet' appearance was observed in the oldest patient from 1 family (examined at age 74)


HPO:

31
macular degeneration, age-related, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110025
OMIM® 57 615439
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
SNOMED-CT via HPO 68 18410006 18695008 263681008
UMLS 70 C3809523

Summaries for Macular Degeneration, Age-Related, 13

OMIM® : 57 Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see 603075. (615439) (Updated 05-Apr-2021)

MalaCards based summary : Macular Degeneration, Age-Related, 13, also known as macular degeneration, age-related, 13, susceptibility to, is related to dermatitis, atopic, 2 and osteogenesis imperfecta, type iv. An important gene associated with Macular Degeneration, Age-Related, 13 is CFI (Complement Factor I), and among its related pathways/superpathways are Defensins and Keratinization. Affiliated tissues include eye and retina, and related phenotypes are choroidal neovascularization and progressive visual loss

Disease Ontology : 12 An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 13: 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.

Related Diseases for Macular Degeneration, Age-Related, 13

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 13

Human phenotypes related to Macular Degeneration, Age-Related, 13:

31
# Description HPO Frequency HPO Source Accession
1 choroidal neovascularization 31 very rare (1%) HP:0011506
2 progressive visual loss 31 HP:0000529
3 macular scar 31 HP:0200056
4 drusen 31 HP:0011510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
choroidal neovascularization (in some patients)
progressive vision loss
'starry sky' staining of basal laminar drusen on fluorescein angiography
macular degeneration, age-related
multiple drusen of variable size
more
Genitourinary Kidneys:
mild subclinical decrease in renal function

Clinical features from OMIM®:

615439 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Degeneration, Age-Related, 13

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 13

Genetic Tests for Macular Degeneration, Age-Related, 13

Genetic tests related to Macular Degeneration, Age-Related, 13:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 13 29 CFI
2 Macular Degeneration, Age-Related, 13, Susceptibility to 29

Anatomical Context for Macular Degeneration, Age-Related, 13

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 13:

40
Eye, Retina

Publications for Macular Degeneration, Age-Related, 13

Articles related to Macular Degeneration, Age-Related, 13:

# Title Authors PMID Year
1
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 57 6
25986072 2015
2
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. 6 57
23685748 2013
3
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 6 57
20513133 2010
4
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. 57 6
20203157 2010
5
Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. 57
25788521 2015
6
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 57
24036952 2013
7
Variation near complement factor I is associated with risk of advanced AMD. 57
18685559 2009
8
A flexible infusion micro-cannula for subretinal surgery. 61
9304644 1997

Variations for Macular Degeneration, Age-Related, 13

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFI NM_000204.4(CFI):c.1234G>A (p.Val412Met) SNV risk factor 217862 rs371432629 GRCh37: 4:110667573-110667573
GRCh38: 4:109746417-109746417
2 CFI NM_000204.4(CFI):c.355G>A (p.Gly119Arg) SNV risk factor 66014 rs141853578 GRCh37: 4:110685820-110685820
GRCh38: 4:109764664-109764664
3 CFI NM_000204.4(CFI):c.1532C>T (p.Ala511Val) SNV Uncertain significance 625917 rs760801046 GRCh37: 4:110663649-110663649
GRCh38: 4:109742493-109742493

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 13:

72
# Symbol AA change Variation ID SNP ID
1 CFI p.Gly119Arg VAR_063666 rs141853578

Expression for Macular Degeneration, Age-Related, 13

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 13.

Pathways for Macular Degeneration, Age-Related, 13

Pathways related to Macular Degeneration, Age-Related, 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 S100A7A DEFB124
2
Show member pathways
11.25 SPRR1A LCE1B KRT77

GO Terms for Macular Degeneration, Age-Related, 13

Biological processes related to Macular Degeneration, Age-Related, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.16 SPRR1A KRT77
2 epidermis development GO:0008544 8.96 SPRR1A LCE1B
3 keratinization GO:0031424 8.8 SPRR1A LCE1B KRT77

Sources for Macular Degeneration, Age-Related, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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