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 ⁵⁶ ⁵²

Mcdca ⁵⁶ ⁵²

Macular Dystrophy, Benign Concentric Annular; Bcamd ⁵⁶

Macular Dystrophy, Benign Concentric Annular ⁵⁶

Benign Concentric Annular Macular Dystrophy ⁵⁸

Maculopathy, Bull's Eye ⁵²

Bull's Eye Maculopathy ⁶

Bcamd ⁵⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

OMIM ⁵⁶ 153870

ICD10 via Orphanet ³³ H35.5

UMLS via Orphanet ⁷² C1828210

Orphanet ⁵⁸ ORPHA251287

MedGen ⁴¹ C1828210

SNOMED-CT via HPO ⁶⁸ 263681008

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Summaries for Macular Dystrophy, Concentric Annular

OMIM : ⁵⁶ 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 cone-rod dystrophy 3 and retinoschisis 1, x-linked, juvenile. An important gene associated with Macular Dystrophy, Concentric Annular is ABCA4 (ATP Binding Cassette Subfamily A Member 4). The drugs Hydroxychloroquine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina 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 top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	cone-rod dystrophy 3	29.8	CRX ABCA4
2	retinoschisis 1, x-linked, juvenile	29.8	CRX ABCA4
3	stargardt disease	29.7	CRX ABCA4
4	congenital stationary night blindness	29.7	CRX ABCA4
5	macular degeneration, age-related, 1	29.6	CRX ABCA4
6	cone-rod dystrophy 2	29.4	CRX ABCA4
7	fundus dystrophy	29.3	CRX ABCA4
8	inherited retinal disorder	29.1	CRX ABCA4
9	macular dystrophy with central cone involvement	11.5
10	cone dystrophy	10.3
11	hemosiderosis	10.3
12	rare hereditary hemochromatosis	10.3
13	retinitis pigmentosa	10.2
14	neuroretinitis	10.2
15	retinitis	10.2
16	scotoma	10.2
17	color vision deficiency	10.2
18	cat eye syndrome	10.1
19	macular dystrophy, vitelliform, 2	10.1
20	vitiligo-associated multiple autoimmune disease susceptibility 6	10.1
21	hemochromatosis, type 1	10.1
22	stargardt disease 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	scheie syndrome	10.1
29	macular dystrophy, retinal, 2	10.1
30	retinitis pigmentosa 7	10.1
31	malaria	10.1
32	cone-rod dystrophy 12	10.1
33	mucopolysaccharidosis-plus syndrome	10.1
34	deficiency anemia	10.1
35	cytomegalovirus retinitis	10.1
36	thalassemia	10.1
37	iron deficiency anemia	10.1
38	methylmalonic acidemia	10.1
39	keratopathy	10.1
40	iron metabolism disease	10.1
41	retinal vascular disease	10.1
42	acquired immunodeficiency syndrome	10.1
43	macular holes	10.1
44	night blindness	10.1
45	myeloid leukemia	10.1
46	homocystinuria	10.1
47	best vitelliform macular dystrophy	10.1
48	methylmalonic acidemia with homocystinuria	10.1
49	stargardt macular degeneration	10.1
50	hypotonia	10.1

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:

³¹

#	Description	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:

⁵⁶

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

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

⁴⁵

#	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

Drugs for Macular Dystrophy, Concentric Annular (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Hydroxychloroquine

Approved

118-42-3

3652

Synonyms:

(+-)-Hydroxychloroquine

(±)-hydroxychloroquine

118-42-3

2-((4-((7-chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol

2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol

2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol

2-(N-(4-(7-chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol

2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol

2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol

2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol

5-22-10-00280 (Beilstein Handbook Reference)

747-36-4 (sulfate (1:1) salt)

7-chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline

7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-b-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-ethyl-N-β-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-β-hydroxyethylamino)-1-methylbutylamino)quinoline

7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline

7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-Ethyl-N-b-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-ethyl-N-β-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-Ethyl-N-β-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline

7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline

AC1L1GEW

Axemal

BRN 0253894

C07043

C18H26ClN3O

CHEMBL1535

CID3652

D08050

DB01611

DivK1c_000942

Dolquine

EINECS 204-249-8

Ercoquin

Gen-Hydroxychloroquine 200mg Tablets

HCQ

Hidroxicloroquina

Hidroxicloroquina [inn-spanish]

Hidroxicloroquina [INN-Spanish]

HMS502P04

Hydroxychlorochin

Hydroxychloroguine

hydroxychloroquine

Hydroxychloroquine

Hydroxychloroquine (INN)

Hydroxychloroquine [INN:BAN]

Hydroxychloroquine sulfate

Hydroxychloroquine sulfate (1:1) salt

Hydroxychloroquine Sulfate (1:1) Salt

Hydroxychloroquinum

Hydroxychloroquinum [inn-latin]

Hydroxychloroquinum [INN-Latin]

IDI1_000942

Idrossiclorochina

Idrossiclorochina [dcit]

Idrossiclorochina [DCIT]

KBio1_000942

LS-66614

MolPort-003-847-792

NCGC00159483-02

NINDS_000942

NSC4375

Oxichlorochine

Oxichlorochinum

Oxichloroquine

Oxychlorochin

Oxychloroquine

PlaqueN/A

Plaquenil

Polirreumin

Polirreumin (TN)

Quensyl

SPBio_001116

Spectrum2_001238

Spectrum5_001697

ST072188

UNII-4QWG6N8QKH

WIN 1258

2

Anti-Infective Agents

3

Antiprotozoal Agents

4

Antiparasitic Agents

5

Antirheumatic Agents

6

Antimalarials

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Cytochrome P450 and ATP-Binding Cassette C C (ABCC) Variants in Egyptian Patients Receiving Hydroxychloroquine and Their Association With Efficacy and Toxicity	Unknown status	NCT03180190		Hydroxychloroquine Oral Tablet
2	Hydroxychloroquine Dosing and Toxicity in Ophthalmology Clinics	Completed	NCT04010110

Search 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:

⁴⁰

Eye, Retina, Testes

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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. ⁵⁶	van Lith-Verhoeven JJ...Cremers FP	14691150	2004
2	Annular macular dystrophy. ⁵⁶	Coppeto J...Ayazi S	7072789	1982
3	Benign concentric annular macular dystrophy. ⁵⁶	Deutman AF	4412179	1974
4	The G-Protein-Coupled Bile Acid Receptor Gpbar1 (TGR5) Inhibits Gastric Inflammation Through Antagonizing NF-κB Signaling Pathway. ⁶¹	Guo C...Wang YD	26696888	2015

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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	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
2	CRX	Cone-Rod Homeobox	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ABCA4	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	SNV	Pathogenic	99114	rs61749423	1:94526212-94526212	1:94060656-94060656
2	CRX	NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	SNV	Pathogenic	218921	rs864309706	19:48342773-48342773	19:47839516-47839516
3	CRX	NM_000554.6(CRX):c.660del (p.Tyr221fs)	deletion	Pathogenic	218922	rs864309707	19:48342981-48342981	19:47839724-47839724
4	CRX	NM_000554.6(CRX):c.661del (p.Tyr221fs)	deletion	Pathogenic	218923	rs864309708	19:48342985-48342985	19:47839728-47839728
5	ABCA4	NM_000350.3(ABCA4):c.5461-10T>C	SNV	Pathogenic/Likely pathogenic	92870	rs1800728	1:94476951-94476951	1:94011395-94011395

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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	CRX ABCA4
2	visual perception	GO:0007601	8.62	CRX ABCA4

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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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Macular Dystrophy, Concentric Annular (BCAMD)

Aliases & Classifications for Macular Dystrophy, Concentric Annular

MalaCards integrated aliases for Macular Dystrophy, Concentric Annular:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Macular Dystrophy, Concentric Annular

Related Diseases for Macular Dystrophy, Concentric Annular

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

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

Symptoms & Phenotypes for Macular Dystrophy, Concentric Annular

Human phenotypes related to Macular Dystrophy, Concentric Annular:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

Drugs & Therapeutics for Macular Dystrophy, Concentric Annular

Drugs for Macular Dystrophy, Concentric Annular (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Macular Dystrophy, Concentric Annular

Anatomical Context for Macular Dystrophy, Concentric Annular

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

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

Genes for Macular Dystrophy, Concentric Annular

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

Variations for Macular Dystrophy, Concentric Annular

ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:

Expression 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:

Sources for Macular Dystrophy, Concentric Annular