MCID: MCL073
MIFTS: 22

Macular Dystrophy, Vitelliform, 1

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 1

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 1:

Name: Macular Dystrophy, Vitelliform, 1 57
Macular Dystrophy, Atypical Vitelliform 57 53 29 13 6 73
Vmd1 57 53
Vitelliform Macular Dystrophy, Atypical 53

Characteristics:

OMIM:

57
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:

32
macular dystrophy, vitelliform, 1:
Onset and clinical course late onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 153840
MedGen 42 C1835178
UMLS 73 C1835178

Summaries for Macular Dystrophy, Vitelliform, 1

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). 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 macular dystrophy, vitelliform, 2. Affiliated tissues include testes and retina, and related phenotypes are visual impairment and reduced visual acuity

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 11.2
2 macular dystrophy, vitelliform, 2 10.9
3 macular dystrophy, vitelliform, 3 10.9
4 macular dystrophy, vitelliform, 4 10.9
5 macular dystrophy, vitelliform, 5 10.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Macular Dystrophy, Vitelliform, 1:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 occasional (7.5%) HP:0000505
2 reduced visual acuity 32 occasional (7.5%) HP:0007663
3 visual field defect 32 occasional (7.5%) HP:0001123
4 macular dystrophy 32 HP:0007754
5 vitelliform-like macular lesions 32 HP:0007677

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 29

Anatomical Context for Macular Dystrophy, Vitelliform, 1

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

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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