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 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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

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

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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

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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:

(show all 33)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa	29.5	ABCA4 CRX
2	macular dystrophy with central cone involvement	11.4
3	retinitis	10.3
4	cat eye syndrome	10.1
5	macular dystrophy, vitelliform, 2	10.1
6	rheumatoid arthritis	10.1
7	leigh syndrome	10.1
8	stargardt disease 4	10.1
9	leber congenital amaurosis 4	10.1
10	scheie syndrome	10.1
11	macular dystrophy, retinal, 2	10.1
12	retinitis pigmentosa 7	10.1
13	malaria	10.1
14	cone-rod dystrophy 12	10.1
15	mucopolysaccharidosis-plus syndrome	10.1
16	stargardt disease	10.1
17	arthritis	10.1
18	thalassemia	10.1
19	cytomegalovirus retinitis	10.1
20	hemosiderosis	10.1
21	methylmalonic acidemia	10.1
22	retinal vascular disease	10.1
23	macular holes	10.1
24	homocystinuria	10.1
25	cone-rod dystrophy 8	9.8	ABCA4 CRX
26	stargardt disease 1	9.8	ABCA4 CRX
27	cone-rod dystrophy 9	9.8	ABCA4 CRX
28	prolonged electroretinal response suppression	9.8	ABCA4 CRX
29	retinal disease	9.8	ABCA4 CRX
30	cone-rod dystrophy 2	9.7	ABCA4 CRX
31	retinal degeneration	9.7	ABCA4 CRX
32	fundus dystrophy	9.7	ABCA4 CRX
33	leber congenital amaurosis	9.6	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

Human phenotypes related to Macular Dystrophy, Concentric Annular:

³³

#	Description	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

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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

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Anatomical Context for Macular Dystrophy, Concentric Annular

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

⁴²

Eye, Testes

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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 )	van Lith-Verhoeven JJ...Cremers FP	2004
2	Evolution of benign concentric annular macular dystrophy. ( 4014382 )	van den Biesen PR...Pinckers AJ	1985
3	Benign concentric annular macular dystrophy. ( 4412179 )	Deutman AF	1974

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Genes for Macular Dystrophy, Concentric Annular

Genes related to Macular Dystrophy, Concentric Annular (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRX	Cone-Rod Homeobox	Protein Coding	400	Pathogenic ⁶
2	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

#	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

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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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia