MCID: MCL018
MIFTS: 26

Macular Dystrophy, Concentric Annular

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Concentric Annular

MalaCards integrated aliases for Macular Dystrophy, Concentric Annular:

Name: Macular Dystrophy, Concentric Annular 58 54
Mcdca 58 54
Macular Dystrophy, Benign Concentric Annular; Bcamd 58
Macular Dystrophy, Benign Concentric Annular 58
Benign Concentric Annular Macular Dystrophy 60
Maculopathy, Bull's Eye 54
Bull's Eye Maculopathy 6
Bcamd 58

Characteristics:

Orphanet epidemiological data:

60
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 153870
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1828210
Orphanet 60 ORPHA251287
MedGen 43 C1828210
SNOMED-CT via HPO 70 263681008

Summaries for Macular Dystrophy, Concentric Annular

OMIM : 58 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 mcdca, is related to retinitis pigmentosa and macular dystrophy with central cone involvement. An important gene associated with Macular Dystrophy, Concentric Annular is CRX (Cone-Rod Homeobox). Affiliated tissues include eye and testes, and related phenotypes are macular dystrophy and dyschromatopsia

Related Diseases for Macular Dystrophy, Concentric Annular

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

Human phenotypes related to Macular Dystrophy, Concentric Annular:

33
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 33 HP:0007754
2 dyschromatopsia 33 HP:0007641
3 foveal hyperpigmentation 33 HP:0008001

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
dyschromatopsia
benign concentric annular macular dystrophy
depigmented ring around an intact central area
foveal hyperpigmentation
normal findings on electrophysiologic testing

Clinical features from OMIM:

153870

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ABCA4 CRX

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

Anatomical Context for Macular Dystrophy, Concentric Annular

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

42
Eye, Testes

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

# Title Authors Year
1
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. ( 14691150 )
2004
2
Evolution of benign concentric annular macular dystrophy. ( 4014382 )
1985
3
Benign concentric annular macular dystrophy. ( 4412179 )
1974

Variations for Macular Dystrophy, Concentric Annular

ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
2 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
3 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212
4 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh38 Chromosome 1, 94060656: 94060656
5 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh38 Chromosome 19, 47839516: 47839516
6 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh37 Chromosome 19, 48342773: 48342773
7 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh37 Chromosome 19, 48342981: 48342981
8 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh38 Chromosome 19, 47839724: 47839724
9 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh38 Chromosome 19, 47839728: 47839728
10 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 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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