VMD1
MCID: MCL073
MIFTS: 22

Macular Dystrophy, Vitelliform, 1 (VMD1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 1

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 1:

Name: Macular Dystrophy, Vitelliform, 1 58
Macular Dystrophy, Atypical Vitelliform 58 54 30 13 6 74
Vmd1 58 54
Vitelliform Macular Dystrophy, Atypical 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance but extreme variability of phenotypic expression
variable age of onset
variable rate of progression
some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa
visual field and color defects invariably present only in patients with advanced loss of vision
some patients with advanced loss of vision have normal eog
based on 1 5-generation family (last curated january 2015)


HPO:

33
macular dystrophy, vitelliform, 1:
Onset and clinical course late onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 153840
MedGen 43 C4551953
UMLS 74 C1835178

Summaries for Macular Dystrophy, Vitelliform, 1

OMIM : 58 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). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). (153840)

MalaCards based summary : Macular Dystrophy, Vitelliform, 1, also known as macular dystrophy, atypical vitelliform, is related to vitelliform macular dystrophy and perrault syndrome 1. Affiliated tissues include testes and retina, and related phenotypes are reduced visual acuity and visual field defect

Related Diseases for Macular Dystrophy, Vitelliform, 1

Diseases in the Vitelliform Macular Dystrophy family:

Macular Dystrophy, Vitelliform, 2 Macular Dystrophy, Vitelliform, 1
Macular Dystrophy, Vitelliform, 3 Macular Dystrophy, Vitelliform, 4
Macular Dystrophy, Vitelliform, 5

Diseases related to Macular Dystrophy, Vitelliform, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitelliform macular dystrophy 11.3
2 perrault syndrome 1 11.1
3 macular dystrophy, vitelliform, 2 11.1
4 macular dystrophy, vitelliform, 3 11.1
5 macular dystrophy, vitelliform, 4 11.1
6 macular dystrophy, vitelliform, 5 11.1

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 1:



Diseases related to Macular Dystrophy, Vitelliform, 1

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 1

Human phenotypes related to Macular Dystrophy, Vitelliform, 1:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 occasional (7.5%) HP:0007663
2 visual field defect 33 occasional (7.5%) HP:0001123
3 macular dystrophy 33 HP:0007754
4 vitelliform-like macular lesions 33 HP:0007677

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity (in some patients)
macular or extramacular punctate yellow lesions
vitelliform ('egg-yolk') deposits, macular or multifocal (in some patients)
visual field defects (in some patients)
tritan color vision defect, complete or partial (in some patients)
more

Clinical features from OMIM:

153840

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 1

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Vitelliform, 1

Genetic Tests for Macular Dystrophy, Vitelliform, 1

Genetic tests related to Macular Dystrophy, Vitelliform, 1:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Atypical Vitelliform 30

Anatomical Context for Macular Dystrophy, Vitelliform, 1

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 1:

42
Testes, Retina

Publications for Macular Dystrophy, Vitelliform, 1

Variations for Macular Dystrophy, Vitelliform, 1

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
2 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh38 Chromosome 22, 36349101: 36349101

Expression for Macular Dystrophy, Vitelliform, 1

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 1.

Pathways for Macular Dystrophy, Vitelliform, 1

GO Terms for Macular Dystrophy, Vitelliform, 1

Sources for Macular Dystrophy, Vitelliform, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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