MCID: MCL056
MIFTS: 18

Macular Dystrophy, Vitelliform, 5

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 5

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 5:

Name: Macular Dystrophy, Vitelliform, 5 57 75 29 6 73
Vmd5 57 75
Dystrophy, Macular, Vitelliform, Type 5 40

Characteristics:

OMIM:

57
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:

32
macular dystrophy, vitelliform, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616152
MeSH 44 D057826
UMLS 73 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)

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 central scotoma and reduced visual acuity

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
moderately decreased visual acuity, late-onset
vitelliform ('egg-yolk') deposits, macular or multifocal
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

Human phenotypes related to Macular Dystrophy, Vitelliform, 5:

32
# Description HPO Frequency HPO Source Accession
1 central scotoma 32 HP:0000603
2 reduced visual acuity 32 HP:0007663
3 vitelliform-like macular lesions 32 HP:0007677
4 macular dystrophy 32 HP:0007754
5 moderate visual impairment 32 HP:0030515

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:

41
Retina

Publications for Macular Dystrophy, Vitelliform, 5

Variations for Macular Dystrophy, Vitelliform, 5

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

75
# Symbol AA change Variation ID SNP ID
1 IMPG2 p.Phe124Leu VAR_064336 rs201893545
2 IMPG2 p.Cys1077Phe VAR_072671 rs713993049

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPG2 NM_016247.3(IMPG2): c.370T> C (p.Phe124Leu) single nucleotide variant Pathogenic rs201893545 GRCh37 Chromosome 3, 101023121: 101023121
2 IMPG2 NM_016247.3(IMPG2): c.370T> C (p.Phe124Leu) single nucleotide variant Pathogenic rs201893545 GRCh38 Chromosome 3, 101304277: 101304277
3 IMPG2 NM_016247.3(IMPG2): c.3230G> T (p.Cys1077Phe) single nucleotide variant Pathogenic rs713993049 GRCh37 Chromosome 3, 100951628: 100951628
4 IMPG2 NM_016247.3(IMPG2): c.3230G> T (p.Cys1077Phe) single nucleotide variant Pathogenic rs713993049 GRCh38 Chromosome 3, 101232784: 101232784
5 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs886044806 GRCh38 Chromosome 3, 101244513: 101244513
6 IMPG2 NM_016247.3(IMPG2): c.1818dupG (p.Gln607Alafs) duplication Pathogenic rs886044806 GRCh37 Chromosome 3, 100963357: 100963357

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
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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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