EOMD
MCID: MCL058
MIFTS: 22

Macular Degeneration, Early-Onset (EOMD)

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

Aliases & Classifications for Macular Degeneration, Early-Onset

MalaCards integrated aliases for Macular Degeneration, Early-Onset:

Name: Macular Degeneration, Early-Onset 57 72 29 6 39 70
Eomd 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
macular degeneration, early-onset:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616118
MeSH 44 D008268
SNOMED-CT via HPO 68 13164000 263681008 422338006
UMLS 70 C4015286

Summaries for Macular Degeneration, Early-Onset

UniProtKB/Swiss-Prot : 72 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, is also known as eomd. An important gene associated with Macular Degeneration, Early-Onset is FBN2 (Fibrillin 2). Affiliated tissues include brain, and related phenotypes are macular degeneration and choroidal neovascularization

More information from OMIM: 616118

Symptoms & Phenotypes for Macular Degeneration, Early-Onset

Human phenotypes related to Macular Degeneration, Early-Onset:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 very rare (1%) HP:0000608
2 choroidal neovascularization 31 very rare (1%) HP:0011506
3 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
choroidal neovascularization
decreased visual acuity
pigmentary changes of macula
pigment epithelial atrophy of macula
atrophic macular disease

Clinical features from OMIM®:

616118 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Macular Degeneration, Early-Onset:

40
Brain

Publications for Macular Degeneration, Early-Onset

Articles related to Macular Degeneration, Early-Onset:

# Title Authors PMID Year
1
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. 6 57
24899048 2014
2
Organic matter disappearance and production of short- and branched-chain fatty acids from selected fiber sources used in pet foods by a canine in vitro fermentation model1. 61
31560750 2019
3
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen. 61
30905644 2019
4
Timing of cognitive decline in CLN3 disease. 61
29392585 2018
5
Brain volumes in psychotic youth with schizophrenia and mood disorders. 61
20569649 2010
6
Users' subjective evaluation of electronic vision enhancement systems. 61
19236583 2009
7
Clinical performance of electronic, head-mounted, low-vision devices. 61
15228505 2004

Variations for Macular Degeneration, Early-Onset

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

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN2 NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) SNV Pathogenic 161445 rs200060005 GRCh37: 5:127674667-127674667
GRCh38: 5:128338975-128338975
2 FBN2 NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) SNV Pathogenic 161446 rs149054177 GRCh37: 5:127671254-127671254
GRCh38: 5:128335562-128335562
3 FBN2 NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser) SNV Likely pathogenic 930425 GRCh37: 5:127670455-127670455
GRCh38: 5:128334763-128334763
4 FBN2 NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg) SNV Likely pathogenic 930869 GRCh37: 5:127673695-127673695
GRCh38: 5:128338003-128338003
5 FBN2 NM_001999.4(FBN2):c.2200G>C (p.Asp734His) SNV Uncertain significance 930920 GRCh37: 5:127704923-127704923
GRCh38: 5:128369230-128369230
6 FBN2 NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) SNV Uncertain significance 380412 rs147610681 GRCh37: 5:127702120-127702120
GRCh38: 5:128366427-128366427
7 FBN2 NM_001999.4(FBN2):c.6511+5G>A SNV Uncertain significance 137344 rs200608284 GRCh37: 5:127625569-127625569
GRCh38: 5:128289877-128289877
8 FBN2 NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) SNV Uncertain significance 449577 rs751600209 GRCh37: 5:127673703-127673703
GRCh38: 5:128338011-128338011
9 FBN2 NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) SNV Uncertain significance 213392 rs375666281 GRCh37: 5:127697434-127697434
GRCh38: 5:128361741-128361741
10 FBN2 NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) SNV Uncertain significance 634470 rs752201545 GRCh37: 5:127595290-127595290
GRCh38: 5:128259598-128259598
11 FBN2 NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) SNV Uncertain significance 350759 rs142747169 GRCh37: 5:127595510-127595510
GRCh38: 5:128259818-128259818
12 FBN2 NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) SNV Uncertain significance 458759 rs1554123065 GRCh37: 5:127673806-127673806
GRCh38: 5:128338114-128338114
13 FBN2 NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) SNV Uncertain significance 213318 rs746570981 GRCh37: 5:127671695-127671695
GRCh38: 5:128336003-128336003
14 FBN2 NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) SNV Uncertain significance 289728 rs199910288 GRCh37: 5:127622440-127622440
GRCh38: 5:128286748-128286748
15 FBN2 NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) SNV Uncertain significance 263401 rs139668142 GRCh37: 5:127636598-127636598
GRCh38: 5:128300906-128300906
16 FBN2 NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) SNV Uncertain significance 213228 rs138834515 GRCh37: 5:127674703-127674703
GRCh38: 5:128339011-128339011
17 FBN2 NM_001999.4(FBN2):c.4250A>G (p.His1417Arg) SNV Uncertain significance 1030506 GRCh37: 5:127666360-127666360
GRCh38: 5:128330668-128330668
18 FBN2 NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) SNV Uncertain significance 528397 rs757028268 GRCh37: 5:127595442-127595442
GRCh38: 5:128259750-128259750
19 FBN2 NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) SNV Uncertain significance 264426 rs148598779 GRCh37: 5:127693085-127693085
GRCh38: 5:128357393-128357393
20 FBN2 NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) SNV Uncertain significance 263857 rs768073096 GRCh37: 5:127714467-127714467
GRCh38: 5:128378774-128378774
21 FBN2 NM_001999.4(FBN2):c.8547A>G (p.Gln2849=) SNV Uncertain significance 626104 rs1561733846 GRCh37: 5:127595339-127595339
GRCh38: 5:128259647-128259647
22 FBN2 NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys) SNV Uncertain significance 626105 rs774250442 GRCh37: 5:127673792-127673792
GRCh38: 5:128338100-128338100
23 FBN2 NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe) Indel Uncertain significance 828002 rs1581251031 GRCh37: 5:127713494-127713495
GRCh38: 5:128377801-128377802
24 FBN2 NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) SNV Uncertain significance 811308 rs372879535 GRCh37: 5:127638727-127638727
GRCh38: 5:128303035-128303035
25 FBN2 NM_001999.4(FBN2):c.4712G>C (p.Cys1571Ser) SNV Uncertain significance 930334 GRCh37: 5:127653846-127653846
GRCh38: 5:128318154-128318154

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

72
# Symbol AA change Variation ID SNP ID
1 FBN2 p.Glu1144Lys VAR_072651 rs200060005
2 FBN2 p.Met1247Thr VAR_072652 rs149054177

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 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
Content
Loading form....