MCID: MCL058
MIFTS: 17

Macular Degeneration, Early-Onset

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Early-Onset

MalaCards integrated aliases for Macular Degeneration, Early-Onset:

Name: Macular Degeneration, Early-Onset 57 75 29 6 40 73
Eomd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease in fourth or fifth decade of life


HPO:

32
macular degeneration, early-onset:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616118
MeSH 44 D008268
UMLS 73 C4015286

Summaries for Macular Degeneration, Early-Onset

UniProtKB/Swiss-Prot : 75 Macular degeneration, early-onset: An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity.

MalaCards based summary : Macular Degeneration, Early-Onset, also known as eomd, is related to retinitis. An important gene associated with Macular Degeneration, Early-Onset is FBN2 (Fibrillin 2). Related phenotypes are visual impairment and macular degeneration

Description from OMIM: 616118

Related Diseases for Macular Degeneration, Early-Onset

Symptoms & Phenotypes for Macular Degeneration, Early-Onset

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
pigmentary changes of macula
pigment epithelial atrophy of macula
choroidal neovascularization
atrophic macular disease


Clinical features from OMIM:

616118

Human phenotypes related to Macular Degeneration, Early-Onset:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 macular degeneration 32 HP:0000608
3 reduced visual acuity 32 HP:0007663

Drugs & Therapeutics for Macular Degeneration, Early-Onset

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Early-Onset

Genetic Tests for Macular Degeneration, Early-Onset

Genetic tests related to Macular Degeneration, Early-Onset:

# Genetic test Affiliating Genes
1 Macular Degeneration, Early-Onset 29 FBN2

Anatomical Context for Macular Degeneration, Early-Onset

Publications for Macular Degeneration, Early-Onset

Variations for Macular Degeneration, Early-Onset

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Early-Onset:

75
# Symbol AA change Variation ID SNP ID
1 FBN2 p.Glu1144Lys VAR_072651 rs200060005
2 FBN2 p.Met1247Thr VAR_072652 rs149054177

ClinVar genetic disease variations for Macular Degeneration, Early-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh38 Chromosome 5, 128338975: 128338975
2 FBN2 NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys) single nucleotide variant Uncertain significance rs200060005 GRCh37 Chromosome 5, 127674667: 127674667
3 FBN2 NM_001999.3(FBN2): c.3740T> C (p.Met1247Thr) single nucleotide variant Likely benign rs149054177 GRCh38 Chromosome 5, 128335562: 128335562
4 FBN2 NM_001999.3(FBN2): c.3740T> C (p.Met1247Thr) single nucleotide variant Likely benign rs149054177 GRCh37 Chromosome 5, 127671254: 127671254

Expression for Macular Degeneration, Early-Onset

Search GEO for disease gene expression data for Macular Degeneration, Early-Onset.

Pathways for Macular Degeneration, Early-Onset

GO Terms for Macular Degeneration, Early-Onset

Sources for Macular Degeneration, Early-Onset

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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