MCID: MCL052
MIFTS: 19

Macular Degeneration, Age-Related, 13

Categories: Genetic diseases, Eye 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 75 73
Armd13 57 12 75
Macular Degeneration, Age-Related, 13, Susceptibility to 57 6
Macular Degeneration, Age-Related, Type 13 40
Age Related Macular Degeneration 13 12
Age-Related Macular Degeneration 13 29

Characteristics:

OMIM:

57
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:

32
macular degeneration, age-related, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615439
Disease Ontology 12 DOID:0110025
MeSH 44 D008268
SNOMED-CT via HPO 69 263681008 18410006
UMLS 73 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)

MalaCards based summary : Macular Degeneration, Age-Related, 13, is also known as armd13. An important gene associated with Macular Degeneration, Age-Related, 13 is CFI (Complement Factor I). Affiliated tissues include eye and retina, and related phenotypes are progressive visual loss and macular scar

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
macular degeneration, age-related
progressive vision loss
multiple drusen of variable size
retinal pigment epithelium (rpe) atrophy (in some patients)
atrophic macular degeneration, early onset
more
Genitourinary Kidneys:
mild subclinical decrease in renal function


Clinical features from OMIM:

615439

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

32
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 macular scar 32 HP:0200056

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

Anatomical Context for Macular Degeneration, Age-Related, 13

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

41
Eye, Retina

Publications for Macular Degeneration, Age-Related, 13

Variations for Macular Degeneration, Age-Related, 13

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

75
# Symbol AA change Variation ID SNP ID
1 CFI p.Gly119Arg VAR_063666 rs141853578

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.1234G> A (p.Val412Met) single nucleotide variant risk factor rs371432629 GRCh37 Chromosome 4, 110667573: 110667573
2 CFI NM_000204.4(CFI): c.1234G> A (p.Val412Met) single nucleotide variant risk factor rs371432629 GRCh38 Chromosome 4, 109746417: 109746417

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

GO Terms for Macular Degeneration, Age-Related, 13

Sources for Macular Degeneration, Age-Related, 13

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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