BCAMD
MCID: MCL018
MIFTS: 27

Macular Dystrophy, Concentric Annular (BCAMD)

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 57 20
Mcdca 57 20
Macular Dystrophy, Benign Concentric Annular; Bcamd 57
Macular Dystrophy, Benign Concentric Annular 57
Benign Concentric Annular Macular Dystrophy 58
Maculopathy, Bull's Eye 20
Bull's Eye Maculopathy 6
Bcamd 57

Characteristics:

Orphanet epidemiological data:

58
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 153870
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1828210
Orphanet 58 ORPHA251287
MedGen 41 C1828210
SNOMED-CT via HPO 68 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) (Updated 05-Mar-2021)

MalaCards based summary : Macular Dystrophy, Concentric Annular, also known as mcdca, is related to stargardt disease and cone dystrophy. An important gene associated with Macular Dystrophy, Concentric Annular is CRX (Cone-Rod Homeobox). Affiliated tissues include eye and retina, and related phenotypes are macular dystrophy and dyschromatopsia

Related Diseases for Macular Dystrophy, Concentric Annular

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 30.0 CRX ABCA4
2 cone dystrophy 29.9 CRX ABCA4
3 cone-rod dystrophy 3 29.8 CRX ABCA4
4 fundus dystrophy 29.8 MMACHC CRX ABCA4
5 retinoschisis 1, x-linked, juvenile 29.8 CRX ABCA4
6 stargardt disease 1 29.8 CRX ABCA4
7 congenital stationary night blindness 29.7 CRX ABCA4
8 macular degeneration, age-related, 1 29.6 CRX ABCA4
9 macular dystrophy with central cone involvement 11.3
10 cone-rod dystrophy 2 10.4
11 retinitis pigmentosa 10.4
12 neuroretinitis 10.4
13 retinitis 10.4
14 inherited retinal disorder 10.4
15 hemosiderosis 10.2
16 rare hereditary hemochromatosis 10.2
17 scotoma 10.2
18 color vision deficiency 10.2
19 cat eye syndrome 10.1
20 macular dystrophy, vitelliform, 2 10.1
21 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
22 hemochromatosis, type 1 10.1
23 leigh syndrome 10.1
24 3-methylglutaconic aciduria, type iii 10.1
25 yemenite deaf-blind hypopigmentation syndrome 10.1
26 stargardt disease 4 10.1
27 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
28 macular dystrophy, retinal, 2 10.1
29 retinitis pigmentosa 7 10.1
30 malaria 10.1
31 cone-rod dystrophy 12 10.1
32 mucopolysaccharidosis-plus syndrome 10.1
33 deficiency anemia 10.1
34 cytomegalovirus retinitis 10.1
35 iron deficiency anemia 10.1
36 methylmalonic acidemia 10.1
37 keratopathy 10.1
38 iron metabolism disease 10.1
39 retinal vascular disease 10.1
40 acquired immunodeficiency syndrome 10.1
41 macular holes 10.1
42 night blindness 10.1
43 homocystinuria 10.1
44 methylmalonic acidemia with homocystinuria 10.1
45 thalassemia 10.1
46 stargardt macular degeneration 10.1
47 hypotonia 10.1
48 partial central choroid dystrophy 9.8 CRX ABCA4
49 hereditary choroidal atrophy 9.8 CRX ABCA4
50 hereditary retinal dystrophy 9.8 CRX ABCA4

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:

31
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 31 HP:0007754
2 dyschromatopsia 31 HP:0007641
3 foveal hyperpigmentation 31 HP:0008001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
dyschromatopsia
foveal hyperpigmentation
benign concentric annular macular dystrophy
depigmented ring around an intact central area
normal findings on electrophysiologic testing

Clinical features from OMIM®:

153870 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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

Anatomical Context for Macular Dystrophy, Concentric Annular

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

40
Eye, Retina

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

# Title Authors PMID Year
1
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. 57
14691150 2004
2
Annular macular dystrophy. 57
7072789 1982
3
Benign concentric annular macular dystrophy. 57
4412179 1974
4
The G-Protein-Coupled Bile Acid Receptor Gpbar1 (TGR5) Inhibits Gastric Inflammation Through Antagonizing NF-κB Signaling Pathway. 61
26696888 2015

Variations for Macular Dystrophy, Concentric Annular

ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRX NM_000554.6(CRX):c.660del (p.Tyr221fs) Deletion Pathogenic 218922 rs864309707 19:48342981-48342981 19:47839724-47839724
2 CRX NM_000554.6(CRX):c.661del (p.Tyr221fs) Deletion Pathogenic 218923 rs864309708 19:48342985-48342985 19:47839728-47839728
3 CRX NM_000554.6(CRX):c.449C>G (p.Ser150Ter) SNV Pathogenic 218921 rs864309706 19:48342773-48342773 19:47839516-47839516
4 ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) SNV Likely pathogenic 99114 rs61749423 1:94526212-94526212 1:94060656-94060656
5 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
6 MMACHC NM_015506.3(MMACHC):c.271dup (p.Arg91fs) Duplication Likely pathogenic 1421 rs398124292 1:45973216-45973217 1:45507544-45507545

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 visual perception GO:0007601 8.62 CRX ABCA4

Sources for Macular Dystrophy, Concentric Annular

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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