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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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Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Bietti Crystalline Dystrophy (C535440)
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:

1250

Name:

Bietti Crystalline Dystrophy

Definition:

Alternative IDs:

OMIM:210370

ParentIDs:

MESH:D003317|MESH:D012164

TreeNumbers:

C11.204.236/C535440 |C11.270.162/C535440 |C11.768/C535440 |C16.320.290.162/C535440

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C535440
MeSH: C535440
OMIM: 210370;

Genes: CYP4V2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0000533	Chorioretinal atrophy
4	HP:0001133	Constriction of peripheral visual field
5	HP:0011003	High myopia	HP:0040283
6	HP:0007880	Marginal corneal dystrophy
7	HP:0007675	Progressive night blindness
8	HP:0000529	Progressive visual loss
9	HP:0000546	Retinal degeneration

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_207352.3(CYP4V2):c.64C>G (p.Leu22Val)	285440	CYP4V2	Benign;Likely benign;Pathogenic	1055138	RCV000032544; RCV000132719; RCV000082840;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751; MedGen:CN169374; MedGen:CN221809	4	187113041	187113041	NM_207352.3:c.64C>G	NP_997235.3:p.Leu22Val	NC_000004.11:g.187113041C>G	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy; CN221809 not provided; CN169374 not specified
NM_207352.3(CYP4V2):c.130T>A (p.Trp44Arg)	285440	CYP4V2	Pathogenic	119103282	RCV000002271;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187113107	187113107	NM_207352.3:c.130T>A	NP_997235.3:p.Trp44Arg	NC_000004.11:g.187113107T>A	OMIM Allelic Variant:608614.0001	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.181G>A (p.Gly61Ser)	285440	CYP4V2	Pathogenic	119103285	RCV000002274;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187113158	187113158	NM_207352.3:c.181G>A	NP_997235.3:p.Gly61Ser	NC_000004.11:g.187113158G>A	OMIM Allelic Variant:608614.0004	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.237G>T (p.Glu79Asp)	285440	CYP4V2	Pathogenic	199476185	RCV000032536;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187115676	187115676	NM_207352.3:c.237G>T	NP_997235.3:p.Glu79Asp	NC_000004.11:g.187115676G>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.253C>T (p.Arg85Cys)	285440	CYP4V2	Pathogenic	199476186	RCV000032537;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187115692	187115692	NM_207352.3:c.253C>T	NP_997235.3:p.Arg85Cys	NC_000004.11:g.187115692C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.283G>A (p.Gly95Arg)	285440	CYP4V2	Pathogenic	199476187	RCV000032538;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187115722	187115722	NM_207352.3:c.283G>A	NP_997235.3:p.Gly95Arg	NC_000004.11:g.187115722G>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.327+1G>A	285440	CYP4V2	Pathogenic	199476182	RCV000032539;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187115767	187115767	NM_207352.3:c.327+1G>A		NC_000004.11:g.187115767G>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.332T>C (p.Ile111Thr)	285440	CYP4V2	Pathogenic	119103283	RCV000002272;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187117161	187117161	NM_207352.3:c.332T>C	NP_997235.3:p.Ile111Thr	NC_000004.11:g.187117161T>C	OMIM Allelic Variant:608614.0002	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.335T>G (p.Leu112Ter)	285440	CYP4V2	Pathogenic	199476188	RCV000032540;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187117164	187117164	NM_207352.3:c.335T>G	NP_997235.3:p.Leu112Ter	NC_000004.11:g.187117164T>G	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.367A>G (p.Met123Val)	285440	CYP4V2	Likely benign;Pathogenic	149684063	RCV000032541; RCV000132718;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751; MedGen:CN221809	4	187117196	187117196	NM_207352.3:c.367A>G	NP_997235.3:p.Met123Val	NC_000004.11:g.187117196A>G	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy; CN221809 not provided
NM_207352.3(CYP4V2):c.400G>T (p.Gly134Ter)	285440	CYP4V2	Pathogenic	199476189	RCV000032542;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187117229	187117229	NM_207352.3:c.400G>T	NP_997235.3:p.Gly134Ter	NC_000004.11:g.187117229G>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.518T>G (p.Leu173Trp)	285440	CYP4V2	Pathogenic	199476190	RCV000032543;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187118198	187118198	NM_207352.3:c.518T>G	NP_997235.3:p.Leu173Trp	NC_000004.11:g.187118198T>G	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.655T>C (p.Tyr219His)	285440	CYP4V2	Pathogenic	199476191	RCV000032545;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187118737	187118737	NM_207352.3:c.655T>C	NP_997235.3:p.Tyr219His	NC_000004.11:g.187118737T>C	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.759dupA (p.His254Thrfs)	285440	CYP4V2	Pathogenic	199476192	RCV000032546;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187120195	187120195	NM_207352.3:c.759dupA	NP_997235.3:p.His254Thrfs	NC_000004.11:g.187120195dupA	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.761A>G (p.His254Arg)	285440	CYP4V2	Pathogenic	199476193	RCV000032547;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187120197	187120197	NM_207352.3:c.761A>G	NP_997235.3:p.His254Arg	NC_000004.11:g.187120197A>G	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.802-8_810del17insGC	285440	CYP4V2	Pathogenic	207482233	RCV000032548;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187122303	187122319	NM_207352.3:c.802-8_810del17insGC		NC_000004.11:g.187122303_187122319del17insGC	OMIM Allelic Variant:608614.0006	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.958C>T (p.Arg320Ter)	285440	CYP4V2	Pathogenic	199476194	RCV000032549;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187122467	187122467	NM_207352.3:c.958C>T	NP_997235.3:p.Arg320Ter	NC_000004.11:g.187122467C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.971A>T (p.Asp324Val)	285440	CYP4V2	Pathogenic	199476195	RCV000032550;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187122480	187122480	NM_207352.3:c.971A>T	NP_997235.3:p.Asp324Val	NC_000004.11:g.187122480A>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.974C>T (p.Thr325Ile)	285440	CYP4V2	Pathogenic	199476196	RCV000032551;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187122483	187122483	NM_207352.3:c.974C>T	NP_997235.3:p.Thr325Ile	NC_000004.11:g.187122483C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.992A>C (p.His331Pro)	285440	CYP4V2	Pathogenic	199476197	RCV000032552;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187126358	187126358	NM_207352.3:c.992A>C	NP_997235.3:p.His331Pro	NC_000004.11:g.187126358A>C	OMIM Allelic Variant:608614.0007	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1020G>A (p.Trp340Ter)	285440	CYP4V2	Pathogenic	199476198	RCV000032525;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187126386	187126386	NM_207352.3:c.1020G>A	NP_997235.3:p.Trp340Ter	NC_000004.11:g.187126386G>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1021T>C (p.Ser341Pro)	285440	CYP4V2	Pathogenic	199476199	RCV000032526;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187126387	187126387	NM_207352.3:c.1021T>C	NP_997235.3:p.Ser341Pro	NC_000004.11:g.187126387T>C	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1091-2A>G	285440	CYP4V2	Pathogenic	199476183	RCV000002275;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130017	187130017	NM_207352.3:c.1091-2A>G		NC_000004.11:g.187130017A>G	OMIM Allelic Variant:608614.0005	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1157A>C (p.Lys386Thr)	285440	CYP4V2	Pathogenic	199476200	RCV000032527;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130085	187130085	NM_207352.3:c.1157A>C	NP_997235.3:p.Lys386Thr	NC_000004.11:g.187130085A>C	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1169G>A (p.Arg390His)	285440	CYP4V2	Pathogenic	199476201	RCV000032528;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130097	187130097	NM_207352.3:c.1169G>A	NP_997235.3:p.Arg390His	NC_000004.11:g.187130097G>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1187C>T (p.Pro396Leu)	285440	CYP4V2	Pathogenic	199476202	RCV000032529;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130115	187130115	NM_207352.3:c.1187C>T	NP_997235.3:p.Pro396Leu	NC_000004.11:g.187130115C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1198C>T (p.Arg400Cys)	285440	CYP4V2	Pathogenic	138444697	RCV000032530;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130126	187130126	NM_207352.3:c.1198C>T	NP_997235.3:p.Arg400Cys	NC_000004.11:g.187130126C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1199G>A (p.Arg400His)	285440	CYP4V2	Pathogenic	199476203	RCV000032531;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130127	187130127	NM_207352.3:c.1199G>A	NP_997235.3:p.Arg400His	NC_000004.11:g.187130127G>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1226-6_1235delTGACAGCAGGTTACAG	285440	CYP4V2	Pathogenic	199476184	RCV000032532;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130241	187130256	NM_207352.3:c.1226-6_1235delTGACAGCAGGTTACAG		NC_000004.11:g.187130241_187130256del16	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1348C>T (p.Gln450Ter)	285440	CYP4V2	Pathogenic	199476204	RCV000032533;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130369	187130369	NM_207352.3:c.1348C>T	NP_997235.3:p.Gln450Ter	NC_000004.11:g.187130369C>T	OMIM Allelic Variant:608614.0008	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1393A>G (p.Arg465Gly)	285440	CYP4V2	Pathogenic	144109267	RCV000153133;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130414	187130414	NM_207352.3:c.1393A>G	NP_997235.3:p.Arg465Gly	NC_000004.11:g.187130414A>G	HGMD:CM130749	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1396A>G (p.Asn466Asp)	285440	CYP4V2	Pathogenic	797045181	RCV000191926;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187130417	187130417	NM_207352.3:c.1396A>G	NP_997235.3:p.Asn466Asp	NC_000004.11:g.187130417A>G	OMIM Allelic Variant:608614.0009	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1445C>A (p.Ser482Ter)	285440	CYP4V2	Pathogenic	146494374	RCV000032534;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187131662	187131662	NM_207352.3:c.1445C>A	NP_997235.3:p.Ser482Ter	NC_000004.11:g.187131662C>A	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1523G>A (p.Arg508His)	285440	CYP4V2	Pathogenic	119103284	RCV000002273;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187131740	187131740	NM_207352.3:c.1523G>A	NP_997235.3:p.Arg508His	NC_000004.11:g.187131740G>A	OMIM Allelic Variant:608614.0003	C1859486 210370 Bietti crystalline corneoretinal dystrophy
NM_207352.3(CYP4V2):c.1526C>T (p.Pro509Leu)	285440	CYP4V2	Pathogenic	199476205	RCV000032535;	N	MedGen:C1859486,OMIM:210370,ORPHA:41751	4	187131743	187131743	NM_207352.3:c.1526C>T	NP_997235.3:p.Pro509Leu	NC_000004.11:g.187131743C>T	-	C1859486 210370 Bietti crystalline corneoretinal dystrophy