eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| best vitelliform macular dystrophy | ||||
| Disease ID | 568 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0339510 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 24 | ABCA4 | 4.204 | DISEASES 55107 | ANO1 | 2.221 | DISEASES 7439 | BEST1 | 8.279 | DISEASES 144453 | BEST3 | 4.588 | DISEASES 266675 | BEST4 | 5.143 | DISEASES 659 | BMPR2 | 1.261 | DISEASES 65250 | C5orf42 | 2.394 | DISEASES 778 | CACNA1F | 1.608 | DISEASES 23066 | CAND2 | 2.023 | DISEASES 629 | CFB | 1.093 | DISEASES 9635 | CLCA2 | 1.973 | DISEASES 22802 | CLCA4 | 2.071 | DISEASES 1382 | CRABP2 | 1.74 | DISEASES 23418 | CRB1 | 1.499 | DISEASES 2202 | EFEMP1 | 1.746 | DISEASES 6785 | ELOVL4 | 1.943 | DISEASES 346007 | EYS | 2.19 | DISEASES 2189 | FANCG | 1.318 | DISEASES 2875 | GPT | 3.473 | DISEASES 84706 | GPT2 | 2.122 | DISEASES 283120 | H19 | 2.83 | DISEASES 3005 | H1F0 | 1.156 | DISEASES 3033 | HADH | 1.543 | DISEASES 3617 | IMPG1 | 4.268 | DISEASES 83552 | MFRP | 2 | DISEASES 27030 | MLH3 | 2.033 | DISEASES 4519 | MT-CYB | 1.059 | DISEASES 4593 | MUSK | 1.017 | DISEASES 4647 | MYO7A | 1.476 | DISEASES 5015 | OTX2 | 2.562 | DISEASES 5339 | PLEC | 1.456 | DISEASES 5515 | PPP2CA | 1.866 | DISEASES 117177 | RAB3IP | 3.166 | DISEASES 6103 | RPGR | 1.361 | DISEASES 6171 | RPL41 | 2.746 | DISEASES 6247 | RS1 | 1.776 | DISEASES 6663 | SOX10 | 1.054 | DISEASES 6427 | SRSF2 | 1.468 | DISEASES 6430 | SRSF5 | 2.601 | DISEASES 6905 | TBCE | 2.779 | DISEASES 4308 | TRPM1 | 1.96 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) BEST1 | 11q12.3 |
| Disease ID | 568 |
|---|---|
| Disease | best vitelliform macular dystrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0012508 | Metamorphopsia HP:0000505 | Visual impairment HP:0001123 | Visual field defect HP:0000551 | Abnormality of color vision HP:0001139 | Choroideremia HP:0008028 | Cystoid macular degeneration |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0011508 | Macular hole | 3 HP:0000572 | Visual loss | 2 HP:0200056 | Macular scar | 1 HP:0100699 | Scarring | 1 HP:0011510 | Drusen | 1 |
| Disease ID | 568 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008028 | Cystoid macular degeneration | MP:0008584 | photoreceptor outer segment degeneration | retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin |
| HP:0001123 | Visual field defect | MP:0010402 | ventricular septal defect | abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions |
| HP:0000551 | Abnormality of color vision | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008028 | Cystoid macular degeneration | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000551 | Abnormality of color vision | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0001139 | Choroideremia | MP:0013453 | enlarged lacrimal gland | increased size of any of the paired glands that secrete the aqueous layer of the tear film |
| HP:0012508 | Metamorphopsia | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001123 | Visual field defect | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 568 |
|---|---|
| Disease | best vitelliform macular dystrophy |
| Case | (Waiting for update.) |