MCID: MCL061
MIFTS: 19

Macular Dystrophy, Vitelliform, 4

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 4

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 4:

Name: Macular Dystrophy, Vitelliform, 4 57 75 29 6 73
Vmd4 57 75
Dystrophy, Macular, Vitelliform, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in third to fifth decade of life
in families with homozygous or compound heterozygous mutations, heterozygous carriers show minimal evidence of eye disease


HPO:

32
macular dystrophy, vitelliform, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616151
MeSH 44 D057826
UMLS 73 C4015342

Summaries for Macular Dystrophy, Vitelliform, 4

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-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, 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 electrooculography (EOG) (Meunier et al., 2014). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (616151)

MalaCards based summary : Macular Dystrophy, Vitelliform, 4, is also known as vmd4. An important gene associated with Macular Dystrophy, Vitelliform, 4 is IMPG1 (Interphotoreceptor Matrix Proteoglycan 1). Affiliated tissues include retina and eye, and related phenotypes are reduced visual acuity and macular dystrophy

UniProtKB/Swiss-Prot : 75 Macular dystrophy, vitelliform, 4: 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. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity.

Related Diseases for Macular Dystrophy, Vitelliform, 4

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
moderately decreased visual acuity, late-onset
vitelliform ('egg-yolk') deposits, macular or multifocal
small satellite drusen-like lesions in foveal area
preservation of retinal pigment epithelium (rpe) reflectivity
deposits above the rpe on spectral-domain optical coherence tomography
more

Clinical features from OMIM:

616151

Human phenotypes related to Macular Dystrophy, Vitelliform, 4:

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

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 4

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Vitelliform, 4

Genetic Tests for Macular Dystrophy, Vitelliform, 4

Genetic tests related to Macular Dystrophy, Vitelliform, 4:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Vitelliform, 4 29 IMPG1

Anatomical Context for Macular Dystrophy, Vitelliform, 4

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 4:

41
Retina, Eye

Publications for Macular Dystrophy, Vitelliform, 4

Variations for Macular Dystrophy, Vitelliform, 4

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 4:

75
# Symbol AA change Variation ID SNP ID
1 IMPG1 p.Leu154Pro VAR_072668 rs713993047
2 IMPG1 p.Leu238Arg VAR_072669 rs713993045

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPG1 NM_001563.3(IMPG1): c.713T> G (p.Leu238Arg) single nucleotide variant Pathogenic rs713993045 GRCh37 Chromosome 6, 76728529: 76728529
2 IMPG1 NM_001563.3(IMPG1): c.713T> G (p.Leu238Arg) single nucleotide variant Pathogenic rs713993045 GRCh38 Chromosome 6, 76018812: 76018812
3 IMPG1 NM_001563.3(IMPG1): c.807+1G> T single nucleotide variant Pathogenic rs713993046 GRCh37 Chromosome 6, 76728434: 76728434
4 IMPG1 NM_001563.3(IMPG1): c.807+1G> T single nucleotide variant Pathogenic rs713993046 GRCh38 Chromosome 6, 76018717: 76018717
5 IMPG1 NM_001563.3(IMPG1): c.1519C> T (p.Arg507Ter) single nucleotide variant Pathogenic rs367576664 GRCh37 Chromosome 6, 76660584: 76660584
6 IMPG1 NM_001563.3(IMPG1): c.1519C> T (p.Arg507Ter) single nucleotide variant Pathogenic rs367576664 GRCh38 Chromosome 6, 75950867: 75950867
7 IMPG1 NM_001563.3(IMPG1): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs713993047 GRCh37 Chromosome 6, 76744345: 76744345
8 IMPG1 NM_001563.3(IMPG1): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs713993047 GRCh38 Chromosome 6, 76034628: 76034628

Expression for Macular Dystrophy, Vitelliform, 4

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 4.

Pathways for Macular Dystrophy, Vitelliform, 4

GO Terms for Macular Dystrophy, Vitelliform, 4

Sources for Macular Dystrophy, Vitelliform, 4

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17 ExPASy
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28 GO
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31 HMDB
32 HPO
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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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