Macular Dystrophy, Concentric Annular disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

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

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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

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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:

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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 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

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Drugs & Therapeutics for Macular Dystrophy, Concentric Annular

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

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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

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Anatomical Context for Macular Dystrophy, Concentric Annular

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

⁴¹

Eye, Testes

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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 )	Collison F.T....Allikmets R.	2015
2	Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. ( 25283059 )	Duncker T....Sparrow J.R.	2015
3	The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )	Michaelides M....Munier F.L.	2010
4	G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. ( 19217903 )	Cella W....Tsang S.H.	2009
5	ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. ( 18024811 )	Michaelides M....Webster A.R.	2007
6	Bull's-eye maculopathy in an infant with Leigh disease. ( 16815282 )	Laird P.W....Renaud D.L.	2006
7	Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )	Steffen H....Holz F.G.	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 )	Seddon J.M....Allikmets R.	2001
9	Reversible bull's-eye maculopathy associated with intravitreal fomivirsen therapy for cytomegalovirus retinitis. ( 11004306 )	Stone T.W....Jaffe G.J.	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 )	Kikawa E....Tamai M.	1994

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Genes for Macular Dystrophy, Concentric Annular

Genes related to Macular Dystrophy, Concentric Annular (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MMACHC	Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria	Protein Coding	400	Pathogenic ⁶
2	CRX	Cone-Rod Homeobox	Protein Coding	400	Pathogenic ⁶
3	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	400	Pathogenic ⁶

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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

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Expression for Macular Dystrophy, Concentric Annular

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

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Pathways for Macular Dystrophy, Concentric Annular

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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

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Sources for Macular Dystrophy, Concentric Annular

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

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⁷⁶ Wikipedia