MCID: MCL066
MIFTS: 42

Macular Dystrophy, Vitelliform, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 2

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 2:

Name: Macular Dystrophy, Vitelliform, 2 57 75
Best Macular Dystrophy 57 59 75 13
Juvenile-Onset Vitelliform Macular Dystrophy 59 75 73
Vitelliform Macular Dystrophy Type 2 59 29 6
Bmd 57 59 75
Best Vitelliform Macular Dystrophy, Multifocal 57 75
Macular Degeneration, Polymorphic Vitelline 57 75
Early-Onset Vitelliform Macular Dystrophy 59 75
Best Vitelliform Macular Dystrophy 59 75
Vitelliform Macular Dystrophy 44 73
Best Disease 59 75
Vmd2 57 75
Vitelliform Macular Dystrophy, Juvenile-Onset 57
Vitelliform Macular Dystrophy, Early-Onset 57
Polymorphic Vitelline Macular Degeneration 59
Dystrophy, Macular, Vitelliform, Type 2 ) 40
Dystrophy, Macular, Vitelliform, Type 2 40
Best Macular Dystrophy; Bmd 57
Best's Macular Dystrophy 75
Bvmd 59
Vmd 75

Characteristics:

Orphanet epidemiological data:

59
best vitelliform macular dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Denmark),1-5/10000 (Sweden),1-9/100000 (Europe); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset, from early childhood to seventh decade of life
some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in best1, with their heterozygous relatives showing milder forms of eye disease


HPO:

32
macular dystrophy, vitelliform, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 153700
Orphanet 59 ORPHA1243
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C0339510 C2745945
MeSH 44 D057826

Summaries for Macular Dystrophy, Vitelliform, 2

OMIM : 57 Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see 603075) (summary by Braley, 1966; White et al., 2000; Marmorstein et al., 2000; Leroy, 2012). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (153700)

MalaCards based summary : Macular Dystrophy, Vitelliform, 2, also known as best macular dystrophy, is related to muscular dystrophy, becker type and macular dystrophy, vitelliform, 3. An important gene associated with Macular Dystrophy, Vitelliform, 2 is BEST1 (Bestrophin 1). The drugs Methotrexate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, b cells and retina, and related phenotypes are visual impairment and cystoid macular degeneration

UniProtKB/Swiss-Prot : 75 Macular dystrophy, vitelliform, 2: An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg- yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.

Related Diseases for Macular Dystrophy, Vitelliform, 2

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 2:



Diseases related to Macular Dystrophy, Vitelliform, 2

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
vitelliform ('egg-yolk') deposits, macular or multifocal
abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium (rpe) on optical coherence tomography (oct)
thickening and elevation of the outer retina-rpe-choroid complex on oct
intraretinal and subretinal fluid in cystic spaces with splitting of retina on oct
more

Clinical features from OMIM:

153700

Human phenotypes related to Macular Dystrophy, Vitelliform, 2:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 Very frequent (99-80%) HP:0000505
2 cystoid macular degeneration 59 32 Very frequent (99-80%) HP:0008028
3 abnormality of color vision 59 Frequent (79-30%)
4 visual field defect 59 Occasional (29-5%)
5 choroideremia 59 Occasional (29-5%)
6 metamorphopsia 59 Very frequent (99-80%)
7 abnormal electroretinogram 32 HP:0000512
8 reduced visual acuity 32 HP:0007663
9 macular dystrophy 32 HP:0007754

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 2

Drugs for Macular Dystrophy, Vitelliform, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
rituximab Approved Phase 4,Phase 3,Phase 1,Phase 2 174722-31-7 10201696
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
6
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-05-9 143 6006
7 Antiemetics Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Antimetabolites Phase 4,Phase 3,Phase 2
10 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4
12 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Autonomic Agents Phase 4
14 Dermatologic Agents Phase 4,Phase 3,Phase 2
15 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
16 Gastrointestinal Agents Phase 4
17 glucocorticoids Phase 4
18 Hormone Antagonists Phase 4
19 Hormones Phase 4
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
21 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Methylprednisolone acetate Phase 4
23 Methylprednisolone Hemisuccinate Phase 4
24 Neuroprotective Agents Phase 4
25 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
26 Peripheral Nervous System Agents Phase 4
27 Prednisolone acetate Phase 4
28 Prednisolone hemisuccinate Phase 4
29 Prednisolone phosphate Phase 4
30 Protective Agents Phase 4,Phase 2
31 Vitamin B Complex Phase 4,Phase 3,Phase 2
32 Folate Nutraceutical Phase 4,Phase 3,Phase 2
33 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2
34
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
35
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
36 tannic acid Approved, Nutraceutical Phase 3
37
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
38
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
39
Gemcitabine Approved Phase 2 95058-81-4 60750
40
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
41
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
42
alemtuzumab Approved, Investigational Phase 2 216503-57-0
43
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
44
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
45
Fluorouracil Approved Phase 2 51-21-8 3385
46
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
47
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
48 Anti-Infective Agents Phase 2,Phase 1
49 Antimitotic Agents Phase 2,Phase 1
50 Antineoplastic Agents, Phytogenic Phase 2,Phase 1

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 A Study of MabThera (Rituximab) in Patients With Rheumatoid Arthritis and an Inadequate Response to Methotrexate Completed NCT01000610 Phase 4 rituximab [MabThera/Rituxan];methotrexate;methylprednisolone
2 A Study of RoActemra/Actemra (Tocilizumab) in Adult Patients With Rheumatoid Arthritis (SVOBODA Programme) Completed NCT02010216 Phase 4 tocilizumab [RoActemra/Actemra]
3 A Study of Tocilizumab and Methotrexate Treatment Strategies (Adding Tocilizumab to Methotrexate Versus Switching to Tocilizumab) in Patients With Active Rheumatoid Arthritis With Inadequate Response to Prior Methotrexate Treatment Completed NCT00810199 Phase 3 tocilizumab [RoActemra/Actemra];methotrexate;placebo
4 An Extension to Study MA21573, Evaluating Tocilizumab in Patients With Active Rheumatoid Arthritis and an Inadequate Response to Current Non-Biological DMARDs and/or Anti-tumor Necrosis Factor (TNF) Therapy Completed NCT00883753 Phase 3 tocilizumab [RoActemra/Actemra]
5 A Study to Assess the Effect of Tocilizumab + Methotrexate on Prevention of Structural Joint Damage in Patients With Moderate to Severe Active Rheumatoid Arthritis (RA) Completed NCT00106535 Phase 3 tocilizumab [RoActemra/Actemra];Placebo;Methotrexate
6 A Study of Tocilizumab and Methotrexate in Combination or as Monotherapy in Treatment-Naïve Patients With Early Rheumatoid Arthritis Completed NCT01034137 Phase 3 methotrexate;placebo MTX;placebo TCZ;tocilizumab [RoActemra/Actemra]
7 A Study to Evaluate the Safety and Efficacy of MabThera (Rituximab) in Combination With Methotrexate (MTX) in Participants With Active Rheumatoid Arthritis Who Failed on Anti-Tumor Necrosis Factor Alpha Therapy Completed NCT00468546 Phase 3 MabThera/Rituxan;Methotrexate
8 Follicular Lymphoma IV/SC Rituximab Therapy (FLIRT) Recruiting NCT02303119 Phase 3 Rituximab IV;Rituximab SC
9 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Terminated NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo;Placebo
10 The 'MADe IT' Clinical Trial: Molecular Analyses Directed Individualized Therapy for Advanced Non-Small Cell Lung Cancer Completed NCT00215930 Phase 2 Vinorelbine;Docetaxel;Gemcitabine;Carboplatin
11 Dose Finding Study of Namilumab in Combination With Methotrexate in Participants With Moderate to Severe Rheumatoid Arthritis (RA) Completed NCT02379091 Phase 2 Namilumab;Placebo;Methotrexate;Folic/folinic acid
12 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
13 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
14 FOLFOX-A in the Treatment of Metastatic or Advanced Unresectable Gastric, Gastro-Esophageal Junction Adenocarcinoma Recruiting NCT03283761 Phase 2 Nab-paclitaxel 150 mg/m^2;Oxaliplatin 85 mg/m^2;5-FU 1200 mg/m^2 x 2 D;Leucovorin 400 mg/m^2
15 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
16 A Study to Determine Dose, Safety, and Efficacy of Durvalumab as Monotherapy and in Combination Therapy in Subjects With Lymphoma or Chronic Lymphocytic Leukemia Active, not recruiting NCT02733042 Phase 1, Phase 2 Durvalumab;Lenalidomide;Rituximab;Ibrutinib;Bendamustine
17 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
18 Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
19 An Observational Study on RoActemra/Actemra (Tocilizumab) in Clinical Practice in Patients With Rheumatoid Arthritis (TRUST) Completed NCT01394276
20 A Retrospective, Observational Chart Review of Biologics in Monotherapy Versus the Combination Biologic Plus Methotrexate in Patients With Rheumatoid Arthritis Completed NCT01866150
21 Observational Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01579006 Tocilizumab
22 A Non-Interventional Study of RoActemra/Actemra in Patients With Moderate to Severe Rheumatoid Arthritis Completed NCT01672970
23 A Non-interventional Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01562327 Tocilizumab
24 Cell Collection to Study Eye Diseases Recruiting NCT01432847
25 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
26 A Study to Characterize Profile of Participant With Psoriatic Arthritis Depending on Whether Their Disease is Managed by a Dermatologist or by a Rheumatologist, and Starting Ustekinumab Recruiting NCT03336281 Ustekinumab
27 A Study on Assessment of STELARA and Tumor Necrosis Factor Alpha Inhibitor Therapies in Participants With Psoriatic Arthritis Recruiting NCT02627768 No Intervention
28 A Study in Participants With a Newly Confirmed Diagnosis of Spondyloarthritis (SpA) Who Are New to Conventional, Targeted and Biological DMARDs Recruiting NCT03131661
29 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Macular Dystrophy, Vitelliform, 2

Cochrane evidence based reviews: vitelliform macular dystrophy

Genetic Tests for Macular Dystrophy, Vitelliform, 2

Genetic tests related to Macular Dystrophy, Vitelliform, 2:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy Type 2 29 BEST1

Anatomical Context for Macular Dystrophy, Vitelliform, 2

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 2:

41
Eye, B Cells, Retina, Lung

Publications for Macular Dystrophy, Vitelliform, 2

Articles related to Macular Dystrophy, Vitelliform, 2:

(show all 22)
# Title Authors Year
1
[Optical coherence tomography and fundus autofluorescence in Best macular dystrophy]. ( 27206620 )
2016
2
Best macular dystrophy in a nigerian: a case report. ( 22740832 )
2012
3
VMD2 mutational analysis in a Japanese family with Best macular dystrophy. ( 20927214 )
2009
4
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. ( 19597114 )
2009
5
Mutation analysis of the VMD2 gene in Thai families with Best macular dystrophy. ( 18766995 )
2008
6
Retinal function in best macular dystrophy: relationship between electrophysiological, psychophysical, and structural measures of damage. ( 18775865 )
2008
7
Gene symbol: BEST1. Disease: Best macular dystrophy. ( 18386356 )
2008
8
Gene symbol: BEST1. Disease: Best macular dystrophy. ( 18386360 )
2008
9
Gene symbol: BEST1. Disease: Best macular dystrophy. ( 18386350 )
2008
10
Gene symbol: BEST1. Disease: Best macular dystrophy. ( 18386373 )
2008
11
Novel de novo mutation in a patient with Best macular dystrophy. ( 16769844 )
2006
12
Late onset is common in best macular dystrophy associated with VMD2 gene mutations. ( 15808248 )
2005
13
Quantitative phenotyping of chromatic dysfunction in best macular dystrophy. ( 16009836 )
2005
14
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). ( 14517959 )
2003
15
In vivo micropathology of Best macular dystrophy with optical coherence tomography. ( 12565808 )
2003
16
Mapping of retinal function in Best macular dystrophy using multifocal electroretinography. ( 11934455 )
2002
17
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. ( 11713080 )
2001
18
A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case. ( 10682987 )
2000
19
Identification of the gene responsible for Best macular dystrophy. ( 9662395 )
1998
20
A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13. ( 9143493 )
1997
21
Flicker fusion thresholds in Best macular dystrophy. ( 869758 )
1977
22
Genetic counseling of families with Best macular dystrophy. ( 1209822 )
1975

Variations for Macular Dystrophy, Vitelliform, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 2:

75 (show top 50) (show all 93)
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Thr6Pro VAR_000830 rs28940275
2 BEST1 p.Val9Ala VAR_000831 rs281865205
3 BEST1 p.Val9Met VAR_000832 rs28940276
4 BEST1 p.Ala10Thr VAR_000833 rs281865206
5 BEST1 p.Leu21Val VAR_000834 rs281865212
6 BEST1 p.Trp24Cys VAR_000835 rs281865213
7 BEST1 p.Arg25Gln VAR_000836 rs281865215
8 BEST1 p.Arg25Trp VAR_000837 rs281865214
9 BEST1 p.Ser27Arg VAR_000838 rs281865216
10 BEST1 p.Gln58Leu VAR_000839 rs281865529
11 BEST1 p.Tyr85His VAR_000841 rs28940274
12 BEST1 p.Arg92Ser VAR_000842 rs281865224
13 BEST1 p.Trp93Cys VAR_000843 rs28940273
14 BEST1 p.Asn99Lys VAR_000844 rs281865227
15 BEST1 p.Leu100Arg VAR_000845 rs281865228
16 BEST1 p.Asp104Glu VAR_000846 rs281865232
17 BEST1 p.Arg141His VAR_000847 rs121918284
18 BEST1 p.Ser209Asn VAR_000848 rs281865237
19 BEST1 p.Arg218Cys VAR_000849 rs281865238
20 BEST1 p.Arg218Gln VAR_000850
21 BEST1 p.Arg218Ser VAR_000851 rs281865238
22 BEST1 p.Leu224Met VAR_000852 rs281865242
23 BEST1 p.Tyr227Asn VAR_000854 rs28941469
24 BEST1 p.Ser231Arg VAR_000855 rs281865244
25 BEST1 p.Val235Met VAR_000856 rs281865245
26 BEST1 p.Thr237Arg VAR_000857 rs281865246
27 BEST1 p.Ala243Val VAR_000858 rs28940570
28 BEST1 p.Pro297Ala VAR_000860 rs1805143
29 BEST1 p.Gly299Glu VAR_000861 rs28941468
30 BEST1 p.Glu300Lys VAR_000862 rs281865258
31 BEST1 p.Asp301Glu VAR_000863 rs281865261
32 BEST1 p.Asp301Asn VAR_000864 rs281865259
33 BEST1 p.Phe305Ser VAR_000865 rs281865265
34 BEST1 p.Ile310Thr VAR_000866 rs281865271
35 BEST1 p.Val311Gly VAR_000867
36 BEST1 p.Asp312Asn VAR_000868 rs281865277
37 BEST1 p.Ala10Val VAR_010468 rs281865207
38 BEST1 p.Arg13His VAR_010469 rs281865209
39 BEST1 p.Ser16Phe VAR_010470 rs281865210
40 BEST1 p.Phe17Cys VAR_010471 rs281865211
41 BEST1 p.Ile73Asn VAR_010472
42 BEST1 p.Leu82Val VAR_010473 rs281865530
43 BEST1 p.Arg92Cys VAR_010474 rs281865224
44 BEST1 p.Arg92His VAR_010475 rs281865225
45 BEST1 p.Gln96His VAR_010476 rs281865226
46 BEST1 p.Gly135Ser VAR_010478 rs281865234
47 BEST1 p.Ala146Lys VAR_010479 rs1800995
48 BEST1 p.Arg218His VAR_010481 rs281865239
49 BEST1 p.Val235Leu VAR_010482 rs281865245
50 BEST1 p.Gln293Lys VAR_010483 rs281865250

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 2:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.279G> C (p.Trp93Cys) single nucleotide variant Pathogenic rs28940273 GRCh37 Chromosome 11, 61723221: 61723221
2 BEST1 NM_004183.3(BEST1): c.279G> C (p.Trp93Cys) single nucleotide variant Pathogenic rs28940273 GRCh38 Chromosome 11, 61955749: 61955749
3 BEST1 NM_004183.3(BEST1): c.253T> C (p.Tyr85His) single nucleotide variant Pathogenic rs28940274 GRCh37 Chromosome 11, 61723195: 61723195
4 BEST1 NM_004183.3(BEST1): c.253T> C (p.Tyr85His) single nucleotide variant Pathogenic rs28940274 GRCh38 Chromosome 11, 61955723: 61955723
5 BEST1 NM_004183.3(BEST1): c.896G> A (p.Gly299Glu) single nucleotide variant Pathogenic rs28941468 GRCh37 Chromosome 11, 61726998: 61726998
6 BEST1 NM_004183.3(BEST1): c.896G> A (p.Gly299Glu) single nucleotide variant Pathogenic rs28941468 GRCh38 Chromosome 11, 61959526: 61959526
7 BEST1 NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter) single nucleotide variant Pathogenic rs121918285 GRCh37 Chromosome 11, 61719365: 61719365
8 BEST1 NM_004183.3(BEST1): c.87C> G (p.Tyr29Ter) single nucleotide variant Pathogenic rs121918285 GRCh38 Chromosome 11, 61951893: 61951893
9 BEST1 NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn) single nucleotide variant Pathogenic rs28941469 GRCh37 Chromosome 11, 61724901: 61724901
10 BEST1 NM_004183.3(BEST1): c.679T> A (p.Tyr227Asn) single nucleotide variant Pathogenic rs28941469 GRCh38 Chromosome 11, 61957429: 61957429
11 BEST1 NM_004183.3(BEST1): c.16A> C (p.Thr6Pro) single nucleotide variant Pathogenic rs28940275 GRCh37 Chromosome 11, 61719294: 61719294
12 BEST1 NM_004183.3(BEST1): c.16A> C (p.Thr6Pro) single nucleotide variant Pathogenic rs28940275 GRCh38 Chromosome 11, 61951822: 61951822
13 BEST1 NM_004183.3(BEST1): c.884_886delTCA (p.Ile295del) deletion Pathogenic rs121918283 GRCh37 Chromosome 11, 61726986: 61726988
14 BEST1 NM_004183.3(BEST1): c.884_886delTCA (p.Ile295del) deletion Pathogenic rs121918283 GRCh38 Chromosome 11, 61959514: 61959516
15 BEST1 NM_004183.3(BEST1): c.25G> A (p.Val9Met) single nucleotide variant Pathogenic rs28940276 GRCh37 Chromosome 11, 61719303: 61719303
16 BEST1 NM_004183.3(BEST1): c.25G> A (p.Val9Met) single nucleotide variant Pathogenic rs28940276 GRCh38 Chromosome 11, 61951831: 61951831
17 BEST1 NM_004183.3(BEST1): c.355G> C (p.Glu119Gln) single nucleotide variant Pathogenic rs1805142 GRCh37 Chromosome 11, 61723297: 61723297
18 BEST1 NM_004183.3(BEST1): c.355G> C (p.Glu119Gln) single nucleotide variant Pathogenic rs1805142 GRCh38 Chromosome 11, 61955825: 61955825
19 BEST1 NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys) indel Pathogenic rs1800995 GRCh37 Chromosome 11, 61723378: 61723379
20 BEST1 NM_004183.3(BEST1): c.436_437delGCinsAA (p.Ala146Lys) indel Pathogenic rs1800995 GRCh38 Chromosome 11, 61955906: 61955907
21 BEST1 NM_004183.3(BEST1): c.728C> T (p.Ala243Val) single nucleotide variant Pathogenic rs28940570 GRCh37 Chromosome 11, 61725631: 61725631
22 BEST1 NM_004183.3(BEST1): c.728C> T (p.Ala243Val) single nucleotide variant Pathogenic rs28940570 GRCh38 Chromosome 11, 61958159: 61958159
23 BEST1 NM_004183.3(BEST1): c.140G> A (p.Arg47His) single nucleotide variant Pathogenic rs28940278 GRCh37 Chromosome 11, 61719418: 61719418
24 BEST1 NM_004183.3(BEST1): c.140G> A (p.Arg47His) single nucleotide variant Pathogenic rs28940278 GRCh38 Chromosome 11, 61951946: 61951946
25 BEST1 NM_004183.3(BEST1): c.1470_1471delCA (p.His490Glnfs) deletion Pathogenic rs281865528 GRCh37 Chromosome 11, 61730096: 61730097
26 BEST1 NM_004183.3(BEST1): c.1470_1471delCA (p.His490Glnfs) deletion Pathogenic rs281865528 GRCh38 Chromosome 11, 61962624: 61962625
27 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Likely pathogenic rs267606677 GRCh37 Chromosome 11, 61724902: 61724902
28 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Likely pathogenic rs267606677 GRCh38 Chromosome 11, 61957430: 61957430
29 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh37 Chromosome 11, 61724874: 61724874
30 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh38 Chromosome 11, 61957402: 61957402
31 BEST1 NM_004183.3(BEST1): c.172_173dupCA (p.Gln58Hisfs) duplication Pathogenic rs672601356 GRCh38 Chromosome 11, 61955126: 61955127
32 BEST1 NM_004183.3(BEST1): c.172_173dupCA (p.Gln58Hisfs) duplication Pathogenic rs672601356 GRCh37 Chromosome 11, 61722598: 61722599
33 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh37 Chromosome 11, 61724452: 61724452
34 BEST1 NM_004183.3(BEST1): c.618G> A (p.Leu206=) single nucleotide variant Benign/Likely benign rs62641693 GRCh38 Chromosome 11, 61956980: 61956980
35 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh37 Chromosome 11, 61730036: 61730036
36 BEST1; FTH1 NM_004183.3(BEST1): c.1410G> A (p.Thr470=) single nucleotide variant Benign rs149698 GRCh38 Chromosome 11, 61962564: 61962564
37 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh37 Chromosome 11, 61730100: 61730100
38 BEST1; FTH1 NM_004183.3(BEST1): c.1474G> A (p.Val492Ile) single nucleotide variant Benign/Likely benign rs111326315 GRCh38 Chromosome 11, 61962628: 61962628
39 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh37 Chromosome 11, 61724329: 61724329
40 BEST1 NM_004183.3(BEST1): c.495G> A (p.Pro165=) single nucleotide variant Benign/Likely benign rs182941675 GRCh38 Chromosome 11, 61956857: 61956857
41 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh37 Chromosome 11, 61727479: 61727479
42 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh37 Chromosome 11, 61717607: 61717607
43 BEST1 NM_004183.3(BEST1): c.-329C> T single nucleotide variant Benign rs972354 GRCh38 Chromosome 11, 61950135: 61950135
44 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh37 Chromosome 11, 61717870: 61717870
45 BEST1 NM_004183.3(BEST1): c.-66G> T single nucleotide variant Uncertain significance rs886048425 GRCh38 Chromosome 11, 61950398: 61950398
46 BEST1; FTH1 NM_004183.3(BEST1): c.1064G> A (p.Arg355His) single nucleotide variant Likely benign rs368356148 GRCh38 Chromosome 11, 61960007: 61960007
47 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh37 Chromosome 11, 61727485: 61727485
48 BEST1; FTH1 NM_004183.3(BEST1): c.1070C> T (p.Ala357Val) single nucleotide variant Likely benign rs17854138 GRCh38 Chromosome 11, 61960013: 61960013
49 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh37 Chromosome 11, 61729769: 61729769
50 BEST1; FTH1 NM_004183.3(BEST1): c.1143C> T (p.Asp381=) single nucleotide variant Likely benign rs112199774 GRCh38 Chromosome 11, 61962297: 61962297

Expression for Macular Dystrophy, Vitelliform, 2

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 2.

Pathways for Macular Dystrophy, Vitelliform, 2

GO Terms for Macular Dystrophy, Vitelliform, 2

Sources for Macular Dystrophy, Vitelliform, 2

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