MCID: MCL018
MIFTS: 29

Macular Dystrophy, Concentric Annular

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Macular Dystrophy, Concentric Annular

MalaCards integrated aliases for Macular Dystrophy, Concentric Annular:

Name: Macular Dystrophy, Concentric Annular 57 53
Bull's Eye Maculopathy 29 6
Mcdca 57 53
Macular Dystrophy, Benign Concentric Annular; Bcamd 57
Macular Dystrophy, Benign Concentric Annular 57
Benign Concentric Annular Macular Dystrophy 59
Maculopathy, Bull's Eye 53
Maculopathy, Bull's-Eye 13
Bcamd 57

Characteristics:

Orphanet epidemiological data:

59
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 153870
Orphanet 59 ORPHA251287
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C1828210
MedGen 42 C1828210
SNOMED-CT via HPO 69 263681008

Summaries for Macular Dystrophy, Concentric Annular

OMIM : 57 Benign concentric annular macular dystrophy (BCAMD) is initially characterized by parafoveal hypopigmentation and good visual acuity, but progresses to a retinitis pigmentosa (RP)-like phenotype with a bull's eye configuration (van Lith-Verhoeven et al., 2004). (153870)

MalaCards based summary : Macular Dystrophy, Concentric Annular, also known as bull's eye maculopathy, is related to stargardt disease 1 and prolonged electroretinal response suppression. An important gene associated with Macular Dystrophy, Concentric Annular is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria). Affiliated tissues include eye and testes, and related phenotypes are dyschromatopsia and macular dystrophy

Related Diseases for Macular Dystrophy, Concentric Annular

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

# Related Disease Score Top Affiliating Genes
1 stargardt disease 1 9.6 ABCA4 CRX
2 prolonged electroretinal response suppression 9.5 ABCA4 CRX
3 cone-rod dystrophy 2 9.5 ABCA4 CRX
4 retinal disease 9.4 ABCA4 CRX
5 retinal degeneration 9.3 ABCA4 CRX
6 fundus dystrophy 9.2 ABCA4 CRX
7 leber congenital amaurosis 9.0 ABCA4 CRX

Graphical network of the top 20 diseases related to Macular Dystrophy, Concentric Annular:



Diseases related to Macular Dystrophy, Concentric Annular

Symptoms & Phenotypes for Macular Dystrophy, Concentric Annular

Symptoms via clinical synopsis from OMIM:

57
Eyes:
benign concentric annular macular dystrophy
depigmented ring around an intact central area
dyschromatopsia
foveal hyperpigmentation

Laboratory:
normal findings on electrophysiologic testing


Clinical features from OMIM:

153870

Human phenotypes related to Macular Dystrophy, Concentric Annular:

32
# Description HPO Frequency HPO Source Accession
1 dyschromatopsia 32 HP:0007641
2 macular dystrophy 32 HP:0007754
3 foveal hyperpigmentation 32 HP:0008001

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.96 ABCA4 CRX
2 vision/eye MP:0005391 8.8 ABCA4 CRX MMACHC

Drugs & Therapeutics for Macular Dystrophy, Concentric Annular

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Concentric Annular

Genetic Tests for Macular Dystrophy, Concentric Annular

Genetic tests related to Macular Dystrophy, Concentric Annular:

# Genetic test Affiliating Genes
1 Bull's Eye Maculopathy 29

Anatomical Context for Macular Dystrophy, Concentric Annular

MalaCards organs/tissues related to Macular Dystrophy, Concentric Annular:

41
Eye, Testes

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

# Title Authors Year
1
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. ( 25687216 )
2015
2
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. ( 25283059 )
2015
3
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )
2010
4
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. ( 19217903 )
2009
5
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. ( 18024811 )
2007
6
Bull's-eye maculopathy in an infant with Leigh disease. ( 16815282 )
2006
7
Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )
2002
8
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. ( 11713080 )
2001
9
Reversible bull's-eye maculopathy associated with intravitreal fomivirsen therapy for cytomegalovirus retinitis. ( 11004306 )
2000
10
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. ( 8020945 )
1994

Variations for Macular Dystrophy, Concentric Annular

ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MMACHC NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs) duplication Pathogenic rs398124292 GRCh38 Chromosome 1, 45507545: 45507545
2 MMACHC NM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs) duplication Pathogenic rs398124292 GRCh37 Chromosome 1, 45973217: 45973217
3 MMACHC NM_015506.2(MMACHC): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs121918243 GRCh37 Chromosome 1, 45974520: 45974520
4 MMACHC NM_015506.2(MMACHC): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic rs121918243 GRCh38 Chromosome 1, 45508848: 45508848
5 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
6 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
7 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
8 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh38 Chromosome 1, 94060656: 94060656
9 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh38 Chromosome 19, 47839516: 47839516
10 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh37 Chromosome 19, 48342773: 48342773
11 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh37 Chromosome 19, 48342981: 48342981
12 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh38 Chromosome 19, 47839724: 47839724
13 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh38 Chromosome 19, 47839728: 47839728
14 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh37 Chromosome 19, 48342985: 48342985

Expression for Macular Dystrophy, Concentric Annular

Search GEO for disease gene expression data for Macular Dystrophy, Concentric Annular.

Pathways for Macular Dystrophy, Concentric Annular

GO Terms for Macular Dystrophy, Concentric Annular

Biological processes related to Macular Dystrophy, Concentric Annular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 ABCA4 CRX
2 visual perception GO:0007601 8.62 ABCA4 CRX

Sources for Macular Dystrophy, Concentric Annular

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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