MCID: VTL001
MIFTS: 42

Vitelliform Macular Dystrophy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vitelliform Macular Dystrophy

MalaCards integrated aliases for Vitelliform Macular Dystrophy:

Name: Vitelliform Macular Dystrophy 12 25 37 29 6 15 73
Juvenile-Onset Vitelliform Macular Dystrophy 12 73
Macular Dystrophy, Vitelliform 76 55
Best Macular Dystrophy 12
Vitelliform Dystrophy 25
Best Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050661
ICD10 33 H35.5
KEGG 37 H00814

Summaries for Vitelliform Macular Dystrophy

Genetics Home Reference : 25 Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces.

MalaCards based summary : Vitelliform Macular Dystrophy, also known as juvenile-onset vitelliform macular dystrophy, is related to macular dystrophy, vitelliform, 3 and best vitelliform macular dystrophy. An important gene associated with Vitelliform Macular Dystrophy is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Methotrexate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and b cells.

Disease Ontology : 12 A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.

Wikipedia : 76 Vitelliform macular dystrophy or vitelliform dystrophy is an irregular autosomal dominant eye disorder... more...

Related Diseases for Vitelliform Macular Dystrophy

Diseases in the Vitelliform Macular Dystrophy family:

Macular Dystrophy, Vitelliform, 2 Macular Dystrophy, Vitelliform, 1
Macular Dystrophy, Vitelliform, 3 Macular Dystrophy, Vitelliform, 4
Macular Dystrophy, Vitelliform, 5

Diseases related to Vitelliform Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, vitelliform, 3 33.1 BEST1 IMPG1 PRPH2
2 best vitelliform macular dystrophy 32.9 BEST1 FEN1 ROM1
3 bestrophinopathy 29.9 BEST1 BEST2 PRPH2
4 macular degeneration, age-related, 1 29.6 BEST1 IMPG1 PRPH2
5 macular dystrophy, vitelliform, 2 12.2
6 macular dystrophy, vitelliform, 1 12.0
7 macular dystrophy, vitelliform, 4 11.4
8 macular dystrophy, vitelliform, 5 11.4
9 vitreoretinochoroidopathy dominant 11.2
10 choroiditis 10.6
11 retinitis 10.5
12 aging 10.3
13 macular holes 10.2
14 macular dystrophy, dominant cystoid 10.0
15 retinal detachment 10.0
16 tuberous sclerosis 1 10.0
17 kearns-sayre syndrome 10.0
18 bestrophinopathy, autosomal recessive 10.0
19 tuberous sclerosis 10.0
20 macular retinal edema 10.0
21 central serous chorioretinopathy 10.0
22 butterfly-shaped pigment dystrophy 9.7 PRPH2 ROM1
23 retinitis pigmentosa 7 9.4 PRPH2 ROM1
24 peripheral retinal degeneration 9.4 BEST1 PRPH2 ROM1
25 retinal disease 9.3 BEST1 PRPH2 ROM1
26 retinal degeneration 9.3 BEST1 PRPH2 ROM1
27 fundus dystrophy 8.6 BEST1 IMPG1 PRPH2 ROM1
28 retinitis pigmentosa 8.1 BEST1 IMPG1 PRPH2 ROM1

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



Diseases related to Vitelliform Macular Dystrophy

Symptoms & Phenotypes for Vitelliform Macular Dystrophy

Drugs & Therapeutics for Vitelliform Macular Dystrophy

Drugs for Vitelliform Macular Dystrophy (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 Vitelliform Macular Dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

Genetic tests related to Vitelliform Macular Dystrophy:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy 29

Anatomical Context for Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

41
Retina, Eye, B Cells, Lung, Smooth Muscle

Publications for Vitelliform Macular Dystrophy

Articles related to Vitelliform Macular Dystrophy:

(show top 50) (show all 151)
# Title Authors Year
1
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY. ( 29781975 )
2018
2
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
3
Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy. ( 29656284 )
2018
4
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
5
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series. ( 29643786 )
2018
6
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
7
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
8
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
9
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
10
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
11
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
12
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
13
Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy. ( 28728185 )
2017
14
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FOR THE DETECTION OF SECONDARY CHOROIDAL NEOVASCULARIZATION IN VITELLIFORM MACULAR DYSTROPHY. ( 28817420 )
2017
15
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
16
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
17
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
18
Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy. ( 27847623 )
2016
19
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
20
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
21
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
22
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
23
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
24
CENTRAL SEROUS CHORIORETINOPATHYLIKE MIMICKING MULTIFOCAL VITELLIFORM MACULAR DYSTROPHY: AN OCULAR SIDE EFFECT OF MITOGEN/EXTRACELLULAR SIGNAL-REGULATED KINASE INHIBITORS. ( 27902541 )
2016
25
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
26
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
27
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
28
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. ( 26201355 )
2015
29
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
30
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
31
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
32
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
33
Best's vitelliform macular dystrophy in 10- and 31-month-old siblings. ( 25314311 )
2014
34
Vitelliform macular dystrophy. ( 24993383 )
2014
35
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
36
Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family. ( 24648718 )
2014
37
Follow-up of a case of vitelliform macular dystrophy over an 8-year period. ( 26011973 )
2014
38
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
39
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
40
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
41
Application of evolutionary based in silico methods to predict the impact of single amino Acid substitutions in vitelliform macular dystrophy. ( 24629188 )
2014
42
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
43
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. ( 25085631 )
2014
44
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014
45
Optical coherence tomography for multifocal vitelliform macular dystrophy. ( 23238259 )
2013
46
Mutations in IMPG1 cause vitelliform macular dystrophies. ( 23993198 )
2013
47
Outer retinal structure in best vitelliform macular dystrophy. ( 23765342 )
2013
48
Improvement of visual acuity after transcorneal electrical stimulation in case of Best vitelliform macular dystrophy. ( 23604515 )
2013
49
Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven-year follow-up of photodynamic treatment of a young boy with choroidal neovascularization. ( 23617333 )
2013
50
Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports. ( 22817759 )
2012

Variations for Vitelliform Macular Dystrophy

ClinVar genetic disease variations for Vitelliform Macular Dystrophy:

6
(show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
2 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
3 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
4 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
5 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
6 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
7 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
8 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
9 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
10 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
11 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
12 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
13 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
14 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
15 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
16 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
17 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
18 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
19 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
20 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
21 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
22 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
23 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
24 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616
25 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh38 Chromosome 6, 42696608: 42696608
26 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh37 Chromosome 6, 42664346: 42664346
27 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh38 Chromosome 6, 42696761: 42696761
28 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh37 Chromosome 6, 42664499: 42664499
29 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh37 Chromosome 6, 42664625: 42664625
30 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh38 Chromosome 6, 42696887: 42696887
31 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh37 Chromosome 6, 42664658: 42664658
32 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh38 Chromosome 6, 42696920: 42696920
33 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh37 Chromosome 6, 42665116: 42665116
34 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh38 Chromosome 6, 42697378: 42697378
35 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh37 Chromosome 6, 42665135: 42665135
36 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh38 Chromosome 6, 42697397: 42697397
37 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh37 Chromosome 6, 42665236: 42665236
38 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh38 Chromosome 6, 42697498: 42697498
39 PRPH2 NM_000322.4(PRPH2): c.*592A> T single nucleotide variant Uncertain significance rs573416213 GRCh37 Chromosome 6, 42665441: 42665441
40 PRPH2 NM_000322.4(PRPH2): c.*592A> T single nucleotide variant Uncertain significance rs573416213 GRCh38 Chromosome 6, 42697703: 42697703
41 PRPH2 NM_000322.4(PRPH2): c.*543G> A single nucleotide variant Likely benign rs432753 GRCh37 Chromosome 6, 42665490: 42665490
42 PRPH2 NM_000322.4(PRPH2): c.*543G> A single nucleotide variant Likely benign rs432753 GRCh38 Chromosome 6, 42697752: 42697752
43 PRPH2 NM_000322.4(PRPH2): c.*351G> A single nucleotide variant Uncertain significance rs551934443 GRCh38 Chromosome 6, 42697944: 42697944
44 PRPH2 NM_000322.4(PRPH2): c.*351G> A single nucleotide variant Uncertain significance rs551934443 GRCh37 Chromosome 6, 42665682: 42665682
45 PRPH2 NM_000322.4(PRPH2): c.*276G> C single nucleotide variant Likely benign rs76754927 GRCh37 Chromosome 6, 42665757: 42665757
46 PRPH2 NM_000322.4(PRPH2): c.*276G> C single nucleotide variant Likely benign rs76754927 GRCh38 Chromosome 6, 42698019: 42698019
47 PRPH2 NM_000322.4(PRPH2): c.*145G> A single nucleotide variant Likely benign rs835 GRCh37 Chromosome 6, 42665888: 42665888
48 PRPH2 NM_000322.4(PRPH2): c.*145G> A single nucleotide variant Likely benign rs835 GRCh38 Chromosome 6, 42698150: 42698150
49 PRPH2 NM_000322.4(PRPH2): c.*132C> T single nucleotide variant Likely benign rs77363417 GRCh37 Chromosome 6, 42665901: 42665901
50 PRPH2 NM_000322.4(PRPH2): c.*132C> T single nucleotide variant Likely benign rs77363417 GRCh38 Chromosome 6, 42698163: 42698163

Expression for Vitelliform Macular Dystrophy

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

Pathways for Vitelliform Macular Dystrophy

GO Terms for Vitelliform Macular Dystrophy

Cellular components related to Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 8.92 BEST1 BEST2 BEST3 BEST4

Biological processes related to Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.56 BEST1 BEST2 BEST3 BEST4
2 visual perception GO:0007601 9.46 BEST1 IMPG1 PRPH2 ROM1
3 chloride transmembrane transport GO:1902476 9.26 BEST1 BEST2 BEST3 BEST4
4 chloride transport GO:0006821 8.92 BEST1 BEST2 BEST3 BEST4

Molecular functions related to Vitelliform Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 8.92 BEST1 BEST2 BEST3 BEST4

Sources for Vitelliform Macular Dystrophy

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