PedAM

Pediatric Disease Annotations & Medicines


	best vitelliform macular dystrophy

Disease ID	307
Disease	best vitelliform macular dystrophy
Definition	Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.
Synonym	best disease best macular dystrophy best's disease disease, best disease, best's dystrophies, vitelliform macular dystrophy, best macular dystrophy, vitelliform macular macular degeneration, polymorphic vitelline macular dystrophies, vitelliform macular dystrophy, best macular dystrophy, vitelliform macular dystrophy, vitelliform, 2 vitelliform dystrophy (disorder) vitelliform macular dystrophies vitelliform macular dystrophy vitelliform macular dystrophy [disease/finding] vmd2
Orphanet	ORPHANET:1243
OMIM	OMIM:153700
DOID	DOID:0050661
UMLS	C0339510
MeSH	D057826
SNOMED-CT	SNOMEDCT_US_2016_09_01:90036004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0456909 \| vision loss \| 1 C0024441 \| macular hole \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) PRPH2 \| 5961 \| CTD_human;GHR BEST1 \| 7439 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:75) 8935 \| SKAP2 \| DISEASES 54831 \| BEST2 \| DISEASES 5837 \| PYGM \| DISEASES 50939 \| IMPG2 \| DISEASES 4320 \| MMP11 \| DISEASES 282808 \| RAB40AL \| DISEASES 1406 \| CRX \| DISEASES 708 \| C1QBP \| DISEASES 2784 \| GNB3 \| DISEASES 7942 \| TFEB \| DISEASES 5961 \| PRPH2 \| DISEASES 1179 \| CLCA1 \| DISEASES 6431 \| SRSF6 \| DISEASES 3007 \| HIST1H1D \| DISEASES 3000 \| GUCY2D \| DISEASES 6426 \| SRSF1 \| DISEASES 6121 \| RPE65 \| DISEASES 3783 \| KCNN4 \| DISEASES 9066 \| SYT7 \| DISEASES 7078 \| TIMP3 \| DISEASES 2495 \| FTH1 \| DISEASES 123 \| PLIN2 \| DISEASES 7356 \| SCGB1A1 \| DISEASES 6094 \| ROM1 \| DISEASES 5013 \| OTX1 \| DISEASES 4286 \| MITF \| DISEASES 1642 \| DDB1 \| DISEASES 10594 \| PRPF8 \| DISEASES 2237 \| FEN1 \| DISEASES 7399 \| USH2A \| DISEASES 4117 \| MAK \| DISEASES 7030 \| TFE3 \| DISEASES 9129 \| PRPF3 \| DISEASES 2744 \| GLS \| DISEASES 5339 \| PLEC \| DISEASES 144453 \| BEST3 \| DISEASES 5015 \| OTX2 \| DISEASES 3005 \| H1F0 \| DISEASES 84706 \| GPT2 \| DISEASES 55107 \| ANO1 \| DISEASES 2202 \| EFEMP1 \| DISEASES 27030 \| MLH3 \| DISEASES 6427 \| SRSF2 \| DISEASES 6663 \| SOX10 \| DISEASES 4519 \| MT-CYB \| DISEASES 6905 \| TBCE \| DISEASES 23418 \| CRB1 \| DISEASES 1382 \| CRABP2 \| DISEASES 6785 \| ELOVL4 \| DISEASES 3617 \| IMPG1 \| DISEASES 24 \| ABCA4 \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 266675 \| BEST4 \| DISEASES 4593 \| MUSK \| DISEASES 659 \| BMPR2 \| DISEASES 778 \| CACNA1F \| DISEASES 6103 \| RPGR \| DISEASES 2189 \| FANCG \| DISEASES 6247 \| RS1 \| DISEASES 6430 \| SRSF5 \| DISEASES 2875 \| GPT \| DISEASES 4308 \| TRPM1 \| DISEASES 3033 \| HADH \| DISEASES 4647 \| MYO7A \| DISEASES 23066 \| CAND2 \| DISEASES 65250 \| C5orf42 \| DISEASES 83552 \| MFRP \| DISEASES 7439 \| BEST1 \| DISEASES 629 \| CFB \| DISEASES 5515 \| PPP2CA \| DISEASES 6171 \| RPL41 \| DISEASES 346007 \| EYS \| DISEASES 117177 \| RAB3IP \| DISEASES 283120 \| H19 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) BEST1 \| 11q12.3

Disease ID	307
Disease	best vitelliform macular dystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0000505 \| Visual impairment HP:0000551 \| Abnormality of color vision HP:0012508 \| Metamorphopsia HP:0001123 \| Visual field defect HP:0008028 \| Cystoid macular degeneration HP:0001139 \| Choroideremia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000572 \| Visual loss \| 2

Disease ID	307
Disease	best vitelliform macular dystrophy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:40)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1129649	23691120	2784	GNB3	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	GNB3;P3H3	12	6839304	T	C
rs1129649	23691120	79068	FTO	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	GNB3;P3H3	12	6839304	T	C
rs121918283	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61959513	ATC	-
rs121918284	18179881	7439	BEST1	umls:C0339510	UNIPROT	However, unlike two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild-type bestrophin-1 channels, consistent with the recessive nature of the condition.	0.577100838	2008	BEST1	11	61955892	G	A
rs121918284	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61955892	G	A
rs121918285	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61951893	C	G,T
rs1800995	10453731	7439	BEST1	umls:C0339510	UNIPROT	However, our results suggest that, in addition to Best disease, mutations within the bestrophin gene could be responsible for other forms of maculopathy with phenotypic characteristics similar to Best disease and for other diseases not included in the VMD category.	0.577100838	1999	NA	NA	NA	NA	NA
rs1800995	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	NA	NA	NA	NA	NA
rs1805142	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61955825	G	C
rs1805143	10453731	7439	BEST1	umls:C0339510	UNIPROT	However, our results suggest that, in addition to Best disease, mutations within the bestrophin gene could be responsible for other forms of maculopathy with phenotypic characteristics similar to Best disease and for other diseases not included in the VMD category.	0.577100838	1999	BEST1	11	61959519	C	G,T
rs1805144	10331951	7439	BEST1	umls:C0339510	UNIPROT	Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset.	0.577100838	1999	BEST1	11	61959530	G	C
rs200277476	11449320	7439	BEST1	umls:C0339510	BeFree	Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.	0.577100838	2001	BEST1	11	61956946	C	T
rs200277476	NA	7439	BEST1	umls:C0339510	UNIPROT	NA	0.577100838	NA	BEST1	11	61956946	C	T
rs267606677	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61957430	A	G
rs281865238	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61957402	C	A,T
rs281865528	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61962624	CA	-
rs28940273	10331951	7439	BEST1	umls:C0339510	UNIPROT	Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset.	0.577100838	1999	BEST1	11	61955749	G	C
rs28940273	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61955749	G	C
rs28940274	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61955723	T	C
rs28940274	18400985	7439	BEST1	umls:C0339510	UNIPROT	Bestrophin Cl- channels are highly permeable to HCO3-.	0.577100838	2008	BEST1	11	61955723	T	C
rs28940274	17110374	7439	BEST1	umls:C0339510	BeFree	Furthermore, we show that three out of 18 disease-associated alterations investigated (I73N, Y85H, F281del) reveal measurable effects on membrane insertion suggesting that defective membrane integration of bestrophin-1 may represent a potential disease mechanism for a small subset of Best macular dystrophy-related mutations.	0.577100838	2007	BEST1	11	61955723	T	C
rs28940275	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61951822	A	C
rs28940275	19357557	7439	BEST1	umls:C0339510	UNIPROT	A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation.	0.577100838	2009	BEST1	11	61951822	A	C
rs28940276	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61951831	G	A
rs28940276	NA	7439	BEST1	umls:C0339510	UNIPROT	NA	0.577100838	NA	BEST1	11	61951831	G	A
rs28940278	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61951946	G	A
rs28940278	NA	7439	BEST1	umls:C0339510	UNIPROT	NA	0.577100838	NA	BEST1	11	61951946	G	A
rs28940570	10798642	7439	BEST1	umls:C0339510	UNIPROT	Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.	0.577100838	2000	BEST1	11	61958159	C	T
rs28940570	19357557	7439	BEST1	umls:C0339510	UNIPROT	A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation.	0.577100838	2009	BEST1	11	61958159	C	T
rs28940570	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61958159	C	T
rs28941468	9662395	7439	BEST1	umls:C0339510	UNIPROT	Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells.	0.577100838	1998	BEST1	11	61959526	G	A
rs28941468	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61959526	G	A
rs28941469	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61957429	T	A
rs28941469	19357557	7439	BEST1	umls:C0339510	UNIPROT	A broad phenotypic variability may be observed in BVMD, even with a single BEST1 mutation.	0.577100838	2009	BEST1	11	61957429	T	A
rs5443	23691120	79068	FTO	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	GNB3;CDCA3	12	6845711	C	T
rs5443	23691120	2784	GNB3	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	GNB3;CDCA3	12	6845711	C	T
rs672601356	NA	7439	BEST1	umls:C0339510	CLINVAR	NA	0.577100838	NA	BEST1	11	61955127	-	CA
rs74653691	10798642	7439	BEST1	umls:C0339510	UNIPROT	Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.	0.577100838	2000	BEST1	11	61956981	C	A
rs8050136	23691120	2784	GNB3	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	FTO	16	53782363	C	A
rs8050136	23691120	79068	FTO	umls:C0339510	BeFree	The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model.	0.000271442	2013	FTO	16	53782363	C	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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