MCID: VTL001
MIFTS: 43

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 26 38 30 6 45 15 74
Juvenile-Onset Vitelliform Macular Dystrophy 12 74
Macular Dystrophy, Vitelliform 77 56
Best Macular Dystrophy 12
Vitelliform Dystrophy 26
Best Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050661
KEGG 38 H00814
MeSH 45 D057826
ICD10 34 H35.5

Summaries for Vitelliform Macular Dystrophy

Genetics Home Reference : 26 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 best vitelliform macular dystrophy and macular dystrophy, vitelliform, 3. 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 Prednisolone phosphate and Prednisolone 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 : 77 Vitelliform macular dystrophy, also known as vitelliform dystrophy, is an irregular autosomal dominant... 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 35)
# Related Disease Score Top Affiliating Genes
1 best vitelliform macular dystrophy 33.8 BEST1 FEN1 ROM1
2 macular dystrophy, vitelliform, 3 33.6 BEST1 IMPG1 PRPH2
3 bestrophinopathy 32.5 BEST1 BEST2 PRPH2
4 macular degeneration, age-related, 1 30.3 BEST1 IMPG1 PRPH2
5 retinal disease 28.3 BEST1 IMPG1 PRPH2 ROM1
6 macular dystrophy, vitelliform, 2 12.4
7 macular dystrophy, vitelliform, 1 12.2
8 macular dystrophy, vitelliform, 4 11.6
9 macular dystrophy, vitelliform, 5 11.6
10 vitreoretinochoroidopathy 11.3
11 bestrophinopathy, autosomal recessive 10.3
12 macular dystrophy, dominant cystoid 10.1
13 tuberous sclerosis 1 10.1
14 kearns-sayre syndrome 10.1
15 tuberous sclerosis 10.1
16 macular retinal edema 10.1
17 macular holes 10.1
18 central serous chorioretinopathy 10.1
19 coloboma of macula 10.0
20 retinal detachment 10.0
21 stargardt disease 1 10.0
22 muscle hypertrophy 10.0
23 degos 'en cocarde' erythrokeratoderma 10.0
24 macular dystrophy, concentric annular 9.9
25 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
26 butterfly-shaped pigment dystrophy 9.8 PRPH2 ROM1
27 retinitis pigmentosa 7 9.8 PRPH2 ROM1
28 stargardt disease 9.7 IMPG1 PRPH2
29 peripheral retinal degeneration 9.7 BEST1 PRPH2 ROM1
30 retinal degeneration 9.7 BEST1 PRPH2 ROM1
31 coats disease 9.5
32 ichthyosis prematurity syndrome 9.5
33 uveitis 9.5
34 fundus dystrophy 9.3 BEST1 IMPG1 PRPH2 ROM1
35 retinitis pigmentosa 9.2 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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
rituximab Approved Phase 4,Phase 3,Phase 1,Phase 2 174722-31-7 10201696
7
leucovorin Approved Phase 4,Phase 3,Phase 2 58-05-9 6006 143
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Prednisolone acetate Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Antimetabolites Phase 4,Phase 3,Phase 2
14 Antineoplastic Agents, Immunological Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4
16 Vitamin B Complex Phase 4,Phase 3,Phase 2
17 Autonomic Agents Phase 4
18 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
19 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
20 Antineoplastic Agents, Hormonal Phase 4
21 Hormone Antagonists Phase 4
22 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
23 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
24 Methylprednisolone Acetate Phase 4
25 Antiemetics Phase 4
26 Vitamin B9 Phase 4,Phase 3,Phase 2
27 Folate Phase 4,Phase 3,Phase 2
28 Neuroprotective Agents Phase 4
29 Dermatologic Agents Phase 4,Phase 3,Phase 2
30 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Folic Acid Antagonists Phase 4,Phase 3,Phase 2
32 Gastrointestinal Agents Phase 4
33 glucocorticoids Phase 4
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
35 Protective Agents Phase 4,Phase 2
36
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
37
tannic acid Approved Phase 3 1401-55-4
38
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
39
Vinorelbine Approved, Investigational Phase 2 71486-22-1 60780 44424639
40
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
41
Gemcitabine Approved Phase 2 95058-81-4 60750
42
Carboplatin Approved Phase 2 41575-94-4 38904 10339178 498142
43
alemtuzumab Approved, Investigational Phase 2 216503-57-0
44
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
45
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
46
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
47
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
48
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
49
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
50
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 6857599 5310940 9887054 43805

Interventional clinical trials:

(show all 34)
# 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 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
5 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]
6 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
7 Follicular Lymphoma IV/SC Rituximab Therapy (FLIRT) Recruiting NCT02303119 Phase 3 Rituximab IV;Rituximab SC
8 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]
9 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
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 Subcutaneous Alemtuzumab (CAMPATH®, MabCampath®) in Relapsed/Refractory B-Cell Chronic Lymphocytic Leukemia Completed NCT00328198 Phase 2
12 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
13 Phase II Open Label Trial to Determine Safety & Efficacy of Tisagenlecleucel in Pediatric Non-Hodgkin Lymphoma Patients Recruiting NCT03610724 Phase 2
14 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)
15 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
16 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
17 Study Evaluating the Efficacy and Safety of JCAR015 in Adult B-cell Acute Lymphoblastic Leukemia (B-ALL) Terminated NCT02535364 Phase 2
18 Epigenetic Modulation of the immunE Response in GastrointEstinal Cancers (EMERGE) Recruiting NCT03812796 Phase 2 Domatinostat;Avelumab
19 BI-1206 and an Anti-CD20 Antibody in Patients With CD32b Positive B-cell Lymphoma or Leukaemia Recruiting NCT02933320 Phase 1, Phase 2
20 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
21 MK-2206, Paclitaxel and Trastuzumab in Treating Patients With HER2-overexpressing Solid Tumor Malignancies Completed NCT01235897 Phase 1 MK-2206;Paclitaxel;Trastuzumab
22 Pacritinib in Relapsed/Refractory Lymphoproliferative Disorders Not yet recruiting NCT03601819 Phase 1 Pacritinib
23 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953
24 Cell Collection to Study Eye Diseases Recruiting NCT01432847
25 An Observational Study on RoActemra/Actemra (Tocilizumab) in Clinical Practice in Patients With Rheumatoid Arthritis (TRUST) Completed NCT01394276
26 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
27 A Retrospective, Observational Chart Review of Biologics in Monotherapy Versus the Combination Biologic Plus Methotrexate in Patients With Rheumatoid Arthritis Completed NCT01866150
28 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
29 A Non-Interventional Study of Rheumatoid Arthritis Patients Treated With RoActemra/Actemra (Tocilizumab) in Monotherapy Completed NCT01705730 tocilizumab
30 Observational Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01579006 Tocilizumab
31 A Non-Interventional Study of RoActemra/Actemra in Patients With Moderate to Severe Rheumatoid Arthritis Completed NCT01672970
32 A Non-interventional Study of RoActemra/Actemra (Tocilizumab) in Patients With Rheumatoid Arthritis Completed NCT01562327 Tocilizumab
33 A Study on Assessment of STELARA and Tumor Necrosis Factor Alpha Inhibitor Therapies in Participants With Psoriatic Arthritis Recruiting NCT02627768 No Intervention
34 A Study in Participants With a Newly Confirmed Diagnosis of Spondyloarthritis (SpA) Who Are New to Conventional, Targeted and Biological DMARDs Recruiting NCT03131661

Search NIH Clinical Center for Vitelliform Macular Dystrophy

Cochrane evidence based reviews: vitelliform macular dystrophy

Genetic Tests for Vitelliform Macular Dystrophy

Genetic tests related to Vitelliform Macular Dystrophy:

# Genetic test Affiliating Genes
1 Vitelliform Macular Dystrophy 30

Anatomical Context for Vitelliform Macular Dystrophy

MalaCards organs/tissues related to Vitelliform Macular Dystrophy:

42
Retina, Eye, B Cells, Smooth Muscle

Publications for Vitelliform Macular Dystrophy

Articles related to Vitelliform Macular Dystrophy:

(show top 50) (show all 156)
# Title Authors Year
1
Best vitelliform macular dystrophy in a large Brazilian family. ( 30723549 )
2019
2
Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy. ( 30880907 )
2019
3
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY. ( 29781975 )
2018
4
Tuberous sclerosis complex with Best's vitelliform macular dystrophy: A combined presentation. ( 29380781 )
2018
5
Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy. ( 29656284 )
2018
6
Genetic variations in Bestrophina891 and associated clinical findings in two Chinese patients with juvenilea89onset and adulta89onset best vitelliform macular dystrophy. ( 29115605 )
2018
7
Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series. ( 29643786 )
2018
8
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )
2018
9
Best Vitelliform Macular Dystrophy. ( 30578489 )
2018
10
Best Vitelliform Macular Dystrophy. ( 30578502 )
2018
11
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. ( 30300315 )
2018
12
Optical coherence tomography in Best vitelliform macular dystrophy. ( 28233888 )
2017
13
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )
2017
14
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography. ( 29288639 )
2017
15
Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy. ( 28187978 )
2017
16
MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 28301340 )
2017
17
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. ( 28831140 )
2017
18
SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY. ( 28376040 )
2017
19
Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy. ( 28728185 )
2017
20
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FOR THE DETECTION OF SECONDARY CHOROIDAL NEOVASCULARIZATION IN VITELLIFORM MACULAR DYSTROPHY. ( 28817420 )
2017
21
INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 29065010 )
2017
22
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. ( 28791410 )
2017
23
PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 27467379 )
2016
24
Choroidal thickness using EDI-OCT in adult-onset vitelliform macular dystrophy. ( 27847623 )
2016
25
Best Vitelliform Macular Dystrophy In Afghan Twins. ( 28718575 )
2016
26
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. ( 27078032 )
2016
27
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina. ( 26427423 )
2016
28
Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography. ( 27867022 )
2016
29
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY. ( 26807628 )
2016
30
CENTRAL SEROUS CHORIORETINOPATHYLIKE MIMICKING MULTIFOCAL VITELLIFORM MACULAR DYSTROPHY: AN OCULAR SIDE EFFECT OF MITOGEN/EXTRACELLULAR SIGNAL-REGULATED KINASE INHIBITORS. ( 27902541 )
2016
31
Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy. ( 25675349 )
2015
32
Retinal structure in young patients aged 10A years or less with Best vitelliform macular dystrophy. ( 25940553 )
2015
33
Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy. ( 26490373 )
2015
34
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. ( 26201355 )
2015
35
Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report. ( 26155505 )
2015
36
RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26418331 )
2015
37
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. ( 25936525 )
2015
38
CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY. ( 26447398 )
2015
39
Best's vitelliform macular dystrophy in 10- and 31-month-old siblings. ( 25314311 )
2014
40
Vitelliform macular dystrophy. ( 24993383 )
2014
41
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy. ( 24526438 )
2014
42
Choroidal neovascularization secondary to Best's vitelliform macular dystrophy in two siblings of a Malay family. ( 24648718 )
2014
43
Follow-up of a case of vitelliform macular dystrophy over an 8-year period. ( 26011973 )
2014
44
Multimodal analysis of the progression of Best vitelliform macular dystrophy. ( 24791142 )
2014
45
Fundus Autofluorescence Patterns in Best Vitelliform Macular Dystrophy. ( 25068640 )
2014
46
Near-Infrared Fundus Autofluorescence in Subclinical Best Vitelliform Macular Dystrophy. ( 25174897 )
2014
47
Application of evolutionary based in silico methods to predict the impact of single amino Acid substitutions in vitelliform macular dystrophy. ( 24629188 )
2014
48
Bilateral choroidal excavation in best vitelliform macular dystrophy. ( 24512759 )
2014
49
Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes. ( 25085631 )
2014
50
Dome-shaped macula associated with Best vitelliform macular dystrophy. ( 25384969 )
2014

Variations for Vitelliform Macular Dystrophy

ClinVar genetic disease variations for Vitelliform Macular Dystrophy:

6 (show top 50) (show all 102)
# 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.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh37 Chromosome 6, 42689755: 42689755
4 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh38 Chromosome 6, 42722017: 42722017
5 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh37 Chromosome 6, 42666136: 42666136
6 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh38 Chromosome 6, 42698398: 42698398
7 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh38 Chromosome 6, 42698426: 42698426
8 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh37 Chromosome 6, 42666164: 42666164
9 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh37 Chromosome 6, 42666145: 42666145
10 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh38 Chromosome 6, 42698407: 42698407
11 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh37 Chromosome 6, 42666061: 42666061
12 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh38 Chromosome 6, 42698323: 42698323
13 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh37 Chromosome 6, 42690083: 42690083
14 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh38 Chromosome 6, 42722345: 42722345
15 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
16 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
17 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
18 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
19 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
20 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
21 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
22 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
23 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
24 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
25 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
26 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
27 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
28 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
29 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
30 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
31 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
32 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
33 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
34 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
35 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616
36 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
37 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh38 Chromosome 6, 42696608: 42696608
38 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh37 Chromosome 6, 42664346: 42664346
39 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh38 Chromosome 6, 42696761: 42696761
40 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh37 Chromosome 6, 42664499: 42664499
41 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh37 Chromosome 6, 42664625: 42664625
42 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh38 Chromosome 6, 42696887: 42696887
43 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh37 Chromosome 6, 42664658: 42664658
44 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh38 Chromosome 6, 42696920: 42696920
45 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh37 Chromosome 6, 42665116: 42665116
46 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh38 Chromosome 6, 42697378: 42697378
47 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh37 Chromosome 6, 42665135: 42665135
48 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh38 Chromosome 6, 42697397: 42697397
49 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh37 Chromosome 6, 42665236: 42665236
50 PRPH2 NM_000322.4(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 GRCh38 Chromosome 6, 42697498: 42697498

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....