VMD5
MCID: MCL056
MIFTS: 21

Macular Dystrophy, Vitelliform, 5 (VMD5)

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

Aliases & Classifications for Macular Dystrophy, Vitelliform, 5

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 5:

Name: Macular Dystrophy, Vitelliform, 5 57 72 29 6 70
Vmd5 57 72
Dystrophy, Macular, Vitelliform, Type 5 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in third to fifth decade of life
asymptomatic patients may show changes on sd-oct
homozygosity for mutation in impg2 was reported in 1 patient with 'mild maculopathy'


HPO:

31
macular dystrophy, vitelliform, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616152
OMIM Phenotypic Series 57 PS153840
MeSH 44 D057826
UMLS 70 C4015343

Summaries for Macular Dystrophy, Vitelliform, 5

OMIM® : 57 Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-5 is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) (Meunier et al., 2014). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (616152) (Updated 05-Apr-2021)

MalaCards based summary : Macular Dystrophy, Vitelliform, 5, is also known as vmd5. An important gene associated with Macular Dystrophy, Vitelliform, 5 is IMPG2 (Interphotoreceptor Matrix Proteoglycan 2). Affiliated tissues include retina, and related phenotypes are macular dystrophy and central scotoma

UniProtKB/Swiss-Prot : 72 Macular dystrophy, vitelliform, 5: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity.

Related Diseases for Macular Dystrophy, Vitelliform, 5

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 5

Human phenotypes related to Macular Dystrophy, Vitelliform, 5:

31
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 31 HP:0007754
2 central scotoma 31 HP:0000603
3 moderately reduced visual acuity 31 HP:0030515
4 vitelliform-like macular lesions 31 HP:0007677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
vitelliform ('egg-yolk') deposits, macular or multifocal
moderately decreased visual acuity, late-onset
preservation of retinal pigment epithelium (rpe) reflectivity
deposits above the rpe on spectral-domain optical coherence tomography (sd-oct)
normal responses on electroretinography
more

Clinical features from OMIM®:

616152 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 5

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Vitelliform, 5

Genetic Tests for Macular Dystrophy, Vitelliform, 5

Genetic tests related to Macular Dystrophy, Vitelliform, 5:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Vitelliform, 5 29 IMPG2

Anatomical Context for Macular Dystrophy, Vitelliform, 5

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 5:

40
Retina

Publications for Macular Dystrophy, Vitelliform, 5

Articles related to Macular Dystrophy, Vitelliform, 5:

# Title Authors PMID Year
1
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 57 6
25085631 2014
2
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 57 6
20673862 2010
3
Mutations in IMPG1 cause vitelliform macular dystrophies. 57
23993198 2013

Variations for Macular Dystrophy, Vitelliform, 5

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPG2 NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) SNV Pathogenic 191181 rs763295314 GRCh37: 3:101010343-101010343
GRCh38: 3:101291499-101291499
2 IMPG2 NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic 143151 rs199867882 GRCh37: 3:100949961-100949961
GRCh38: 3:101231117-101231117
3 IMPG2 NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) SNV Pathogenic 3550 rs201893545 GRCh37: 3:101023121-101023121
GRCh38: 3:101304277-101304277
4 IMPG2 NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter) SNV Pathogenic 1032726 GRCh37: 3:100962609-100962609
GRCh38: 3:101243765-101243765
5 IMPG2 NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) SNV Pathogenic 162138 rs713993049 GRCh37: 3:100951628-100951628
GRCh38: 3:101232784-101232784
6 IMPG2 NM_016247.4(IMPG2):c.81_85+5del Deletion Pathogenic 1032728 GRCh37: 3:101039127-101039136
GRCh38: 3:101320283-101320292
7 IMPG2 NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) SNV Likely pathogenic 599088 rs1559642470 GRCh37: 3:100961738-100961738
GRCh38: 3:101242894-101242894
8 IMPG2 NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr) SNV Uncertain significance 1032727 GRCh37: 3:100962539-100962539
GRCh38: 3:101243695-101243695

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 5:

72
# Symbol AA change Variation ID SNP ID
1 IMPG2 p.Phe124Leu VAR_064336 rs201893545
2 IMPG2 p.Cys1077Phe VAR_072671 rs713993049

Expression for Macular Dystrophy, Vitelliform, 5

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 5.

Pathways for Macular Dystrophy, Vitelliform, 5

GO Terms for Macular Dystrophy, Vitelliform, 5

Sources for Macular Dystrophy, Vitelliform, 5

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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