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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: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Bestrophinopathy (C567518)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1231

Name:

Bestrophinopathy

Definition:

Alternative IDs:

ParentIDs:

MESH:D012164|MESH:D015785

TreeNumbers:

C11.270/C567518 |C11.768/C567518 |C16.320.290/C567518

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C567518
MeSH: C567518
OMIM: 611809;

Genes: BEST1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
3	HP:0000540	Hypermetropia
4	HP:0007663	Reduced visual acuity
5	HP:0012045	Retinal flecks
6	HP:0007722	Retinal pigment epithelial atrophy

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_004183.3(BEST1):c.122T>C (p.Leu41Pro)	7439	BEST1	Pathogenic	121918288	RCV000002866; RCV000086085;	N	MedGen:C2678493,OMIM:611809,ORPHA:139455; MedGen:CN221809	11	61719400	61719400	NM_004183.3:c.122T>C	NP_004174.1:p.Leu41Pro	NC_000011.9:g.61719400T>C	OMIM Allelic Variant:607854.0018	C2678493 611809 Bestrophinopathy, autosomal recessive; CN221809 not provided
NM_004183.3(BEST1):c.422G>A (p.Arg141His)	7439	BEST1	Pathogenic	121918284	RCV000002862; RCV000002863; RCV000086135;	N	MedGen:C0339510,OMIM:153700,SNOMED CT:90036004; MedGen:C2678493,OMIM:611809,ORPHA:139455; MedGen:CN221809	11	61723364	61723364	NM_004183.3:c.422G>A	NP_004174.1:p.Arg141His	NC_000011.9:g.61723364G>A	OMIM Allelic Variant:607854.0013,OMIM Allelic Variant:607854.0016	C2678493 611809 Bestrophinopathy, autosomal recessive; CN221809 not provided; C0339510 153700 Vitelliform dystrophy
NM_004183.3(BEST1):c.598C>T (p.Arg200Ter)	7439	BEST1	Pathogenic	121918286	RCV000002864;	N	MedGen:C2678493,OMIM:611809,ORPHA:139455	11	61724432	61724432	NM_004183.3:c.598C>T	NP_004174.1:p.Arg200Ter	NC_000011.9:g.61724432C>T	OMIM Allelic Variant:607854.0015	C2678493 611809 Bestrophinopathy, autosomal recessive
NM_004183.3(BEST1):c.602T>C (p.Ile201Thr)	7439	BEST1	Likely pathogenic	199529046	RCV000169651; RCV000086141;	N	MedGen:C2678493,OMIM:611809,ORPHA:139455; MedGen:CN221809	11	61724436	61724436	NM_004183.3:c.602T>C	NP_004174.1:p.Ile201Thr	NC_000011.9:g.61724436T>C	-	C2678493 611809 Bestrophinopathy, autosomal recessive; CN221809 not provided
NM_004183.3(BEST1):c.949G>A (p.Val317Met)	7439	BEST1	Pathogenic	121918287	RCV000002865;	N	MedGen:C2678493,OMIM:611809,ORPHA:139455	11	61727364	61727364	NM_004183.3:c.949G>A	NP_004174.1:p.Val317Met	NC_000011.9:g.61727364G>A	OMIM Allelic Variant:607854.0017	C2678493 611809 Bestrophinopathy, autosomal recessive