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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Macular Degeneration (D008268)
..Starting node ..Macular dystrophy, concentric annular (C537833)
Child Nodes:
Sister Nodes:
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..Geographic Atrophy (D057092)
..Juvenile macular degeneration and hypotrichosis (C537698)
..Macular Degeneration, Age-Related, 1 (C566411)
..Macular Degeneration, Age-Related, 10 (C566935)
..Macular Degeneration, Age-Related, 11 (C567450)
..Macular Degeneration, Age-Related, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..Macular Degeneration, Age-Related, 9 (C566958)
..Macular dystrophy, concentric annular (C537833)
..MACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..Macular Dystrophy, X-Linked (C564110)
..Macular Edema (D008269)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..OCCULT MACULAR DYSTROPHY (OMIM:613587)
..Stargardt disease 1 (C535804)
..Stargardt disease 3 (C535805)
..Stargardt disease 4 (C535521)
..Stargardt Macular Degeneration (C580470)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Vitelliform Macular Dystrophy (D057826) 2
..Wet Macular Degeneration (D057135)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6688

Name:

Macular dystrophy, concentric annular

Definition:

Alternative IDs:

OMIM:153870

ParentIDs:

MESH:D008268

TreeNumbers:

C11.768.585.439/C537833

Synonyms:

BCAMD |MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR |Maculopathy, bull's eye |MCDCA

Slim Mappings:

Eye disease

Reference:

MedGen: C537833
MeSH: C537833
OMIM: 153870;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007641	Dyschromatopsia
3	HP:0008001	Foveal hyperpigmentation
4	HP:0007754	Macular dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000554.4(CRX):c.449C>G (p.Ser150Ter)	1406	CRX	Pathogenic	864309706	RCV000203264;	N	MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002	19	48342773	48342773	NM_000554.4:c.449C>G	NP_000545.1:p.Ser150Ter	NC_000019.9:g.48342773C>G	-	CN220153 153870 Bull's eye maculopathy
NM_000554.4(CRX):c.657delC (p.Tyr221Thrfs)	1406	CRX	Pathogenic	864309707	RCV000203269;	N	MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002	19	48342981	48342981	NM_000554.4:c.657delC	NP_000545.1:p.Tyr221Thrfs	NC_000019.9:g.48342981delC	-	CN220153 153870 Bull's eye maculopathy
NM_000554.4(CRX):c.661delT (p.Tyr221Thrfs)	1406	CRX	Pathogenic	864309708	RCV000203272;	N	MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002	19	48342985	48342985	NM_000554.4:c.661delT	NP_000545.1:p.Tyr221Thrfs	NC_000019.9:g.48342985delT	-	CN220153 153870 Bull's eye maculopathy
NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)	25974	MMACHC	Likely pathogenic;Pathogenic	398124292	RCV000001486; RCV000081737; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45973217	45973217	NM_015506.2:c.271dupA	NP_056321.2:p.Arg91Lysfs	NC_000001.10:g.45973217dupA	HGMD:CI055013,OMIM Allelic Variant:609831.0001	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs)	25974	MMACHC	Likely pathogenic;Pathogenic	398124292	RCV000001486; RCV000081737; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45973217	45973217	NM_015506.2:c.271dupA	NP_056321.2:p.Arg91Lysfs	NC_000001.10:g.45973217dupA	HGMD:CI055013,OMIM Allelic Variant:609831.0001	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln)	25974	MMACHC	Likely pathogenic;Pathogenic	121918243	RCV000001490; RCV000081740; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45974520	45974520	NM_015506.2:c.482G>A	NP_056321.2:p.Arg161Gln	NC_000001.10:g.45974520G>A	HGMD:CM060063,OMIM Allelic Variant:609831.0005	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided
NM_015506.2(MMACHC):c.482G>A (p.Arg161Gln)	25974	MMACHC	Likely pathogenic;Pathogenic	121918243	RCV000001490; RCV000081740; RCV000203236;	N	MedGen:C1848561,OMIM:277400,ORPHA:26; MedGen:CN220153,OMIM:153870, Orphanet:ORPHA251287,SNOMED CT:424169002; MedGen:CN221809	1	45974520	45974520	NM_015506.2:c.482G>A	NP_056321.2:p.Arg161Gln	NC_000001.10:g.45974520G>A	HGMD:CM060063,OMIM Allelic Variant:609831.0005	CN220153 153870 Bull's eye maculopathy; C1848561 277400 Methylmalonic acidemia with homocystinuria; CN221809 not provided