VMD3
MCID: MCL060
MIFTS: 42

Macular Dystrophy, Vitelliform, 3 (VMD3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Vitelliform, 3

MalaCards integrated aliases for Macular Dystrophy, Vitelliform, 3:

Name: Macular Dystrophy, Vitelliform, 3 57 72
Adult-Onset Vitelliform Macular Dystrophy 20 58 72 70
Avmd 57 20 58 72
Macular Dystrophy, Vitelliform, Adult-Onset 20 29 6
Aofmd 57 58 72
Foveomacular Dystrophy, Adult-Onset, with or Without Choroidal Neovascularization 57 72
Foveomacular Dystrophy, Adult-Onset, with Choroidal Neovascularization 20 13
Adult-Onset Foveomacular Vitelliform Dystrophy 20 58
Vitelliform Macular Dystrophy, Adult-Onset 57 20
Foveomacular Dystrophy, Adult-Onset; Aofmd 57 20
Adult-Onset Foveomacular Dystrophy 58 72
Vmd3 57 72
Adult-Onset Foveomacular Dystrophy with Choroidal Neovascularization 58
Vitelliform Macular Dystrophy, Adult-Onset; Avmd 57
Dystrophy, Macular, Vitelliform, Type 3 39
Pseudo-Vitelliform Macular Dystrophy 58
Foveomacular Dystrophy, Adult-Onset 57
Vitelliform Macular Dystrophy 3 6
Pseudo-Best Disease 58
Gass Disease 58

Characteristics:

Orphanet epidemiological data:

58
adult-onset foveomacular vitelliform dystrophy
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
slowly progressive disease
onset between second to sixth decades of life


HPO:

31
macular dystrophy, vitelliform, 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 608161
OMIM Phenotypic Series 57 PS153840
MeSH 44 D057826
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1842914
Orphanet 58 ORPHA99000
MedGen 41 C1842914
UMLS 70 C1842914

Summaries for Macular Dystrophy, Vitelliform, 3

OMIM® : 57 Adult-onset foveomacular vitelliform dystrophy, also known as adult vitelliform macular dystrophy, adult-type foveomacular dystrophy, adult vitelliform macular degeneration, pseudovitelliform macular degeneration, and adult-onset foveomacular pigment epithelial dystrophy, is characterized by a solitary, oval, slightly elevated yellowish subretinal lesion of the fovea that is similar in appearance to the vitelliform or egg-yolk stage of Best disease (153700). Initially the yellow lesion may be present in only one eye. The size is generally one-third to one disc diameter, and small yellow flecks are seen in the paracentral lesion. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted decrease of visual acuity and mild metamorphopsia. Electrooculographic testing reveals a normal or only slightly reduced Arden ratio, which is intensely abnormal in Best disease. The prognosis is optimistic, as most patients retain reading vision throughout life (Felbor et al., 1997; Yamaguchi et al., 2001). For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). (608161) (Updated 05-Apr-2021)

MalaCards based summary : Macular Dystrophy, Vitelliform, 3, also known as adult-onset vitelliform macular dystrophy, is related to vitreoretinochoroidopathy and vitelliform macular dystrophy, and has symptoms including photophobia and metamorphopsia. An important gene associated with Macular Dystrophy, Vitelliform, 3 is PRPH2 (Peripherin 2). Affiliated tissues include eye and retina, and related phenotypes are vitelliform-like macular lesions and choroideremia

GARD : 20 Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. AVMD usually begins after age 40. Some people remain without symptoms throughout their life. Other people with AVMD may slowly develop blurred and/or distorted vision, that can progress to central vision loss over time. In the past, AVMD was believed to be mainly a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes ; however, recent studies focused on genetic testing suggest that the genetic cause for most cases of AVMD has not been found. Sometimes AVMD clearly runs in families in an autosomal dominant manner, but the inheritance is suspected to be more complicated in the majority of cases.

UniProtKB/Swiss-Prot : 72 Macular dystrophy, vitelliform, 3: A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.

Wikipedia : 73 Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID -... more...

Related Diseases for Macular Dystrophy, Vitelliform, 3

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 Macular Dystrophy, Vitelliform, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy 31.0 PRPH2 IMPG2 IMPG1 BEST1
2 vitelliform macular dystrophy 30.3 PRPH2 IMPG2 IMPG1 BEST1
3 macular dystrophy, vitelliform, 2 29.3 PRPH2 IMPG2 IMPG1 BEST1
4 retinal disease 29.3 PRPH2 IMPG2 IMPG1 BEST1
5 bestrophinopathy, autosomal recessive 29.2 PRPH2 IMPG2 IMPG1 BEST1
6 macular degeneration, age-related, 1 29.1 PRPH2 IMPG2 IMPG1 BEST1
7 central serous chorioretinopathy 10.5
8 retinal detachment 10.4
9 retinal vascular disease 10.4
10 vitreoretinopathy, neovascular inflammatory 10.3
11 angioid streaks 10.3
12 microvascular complications of diabetes 5 10.3
13 kuhnt-junius degeneration 10.3
14 pattern dystrophy 10.3
15 vitreoretinopathy 10.3
16 kearns-sayre syndrome 10.2
17 macular holes 10.2
18 peripheral retinal degeneration 10.0 PRPH2 BEST1
19 choroid disease 10.0 PRPH2 BEST1
20 gyrate atrophy of choroid and retina 10.0 PRPH2 BEST1
21 doyne honeycomb retinal dystrophy 9.9 PRPH2 BEST1
22 degeneration of macula and posterior pole 9.9 PRPH2 BEST1
23 chorioretinal scar 9.9 IMPG2 BEST1
24 choroideremia 9.9 PRPH2 BEST1
25 occult macular dystrophy 9.9 PRPH2 IMPG2
26 late-onset retinal degeneration 9.9 PRPH2 BEST1
27 stargardt disease 1 9.9 PRPH2 BEST1
28 cone-rod dystrophy 6 9.9 PRPH2 BEST1
29 nanophthalmos 9.9 PRPH2 BEST1
30 fundus albipunctatus 9.9 PRPH2 BEST1
31 eye degenerative disease 9.8 PRPH2 BEST1
32 retinitis pigmentosa 25 9.8 PRPH2 IMPG1
33 achromatopsia 9.8 PRPH2 BEST1
34 congenital stationary night blindness 9.7 PRPH2 BEST1
35 hereditary retinal dystrophy 9.7 PRPH2 IMPG2 BEST1
36 cone dystrophy 9.6 PRPH2 BEST1
37 eye disease 9.6 PRPH2 IMPG2 BEST1
38 isolated macular dystrophy 9.6 PRPH2 IMPG1 BEST1
39 basal laminar drusen 9.5 IMPG2 IMPG1 BEST1
40 stargardt disease 9.2 PRPH2 IMPG2 IMPG1 BEST1
41 leber plus disease 9.2 PRPH2 IMPG2 IMPG1 BEST1
42 fundus dystrophy 9.2 PRPH2 IMPG2 IMPG1 BEST1
43 cone-rod dystrophy 2 9.2 PRPH2 IMPG2 IMPG1 BEST1
44 retinitis pigmentosa 9.2 PRPH2 IMPG2 IMPG1 BEST1

Graphical network of the top 20 diseases related to Macular Dystrophy, Vitelliform, 3:



Diseases related to Macular Dystrophy, Vitelliform, 3

Symptoms & Phenotypes for Macular Dystrophy, Vitelliform, 3

Human phenotypes related to Macular Dystrophy, Vitelliform, 3:

31 58 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vitelliform-like macular lesions 31 hallmark (90%) HP:0007677
2 choroideremia 58 31 frequent (33%) Frequent (79-30%) HP:0001139
3 color vision defect 58 31 frequent (33%) Frequent (79-30%) HP:0000551
4 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
5 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
6 retinal nonattachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0007899
7 choroidal neovascularization 31 very rare (1%) HP:0011506
8 visual impairment 58 Very frequent (99-80%)
9 photophobia 31 HP:0000613
10 abnormality of the eye 58 Very frequent (99-80%)
11 abnormality of vision 58 Very frequent (99-80%)
12 reduced visual acuity 31 HP:0007663
13 macular dystrophy 31 HP:0007754
14 metamorphopsia 31 HP:0012508
15 macular atrophy 31 HP:0007401
16 vitelliform maculopathy 58 Very frequent (99-80%)
17 drusen 31 HP:0011510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
metamorphopsia
macular atrophy
decreased visual acuity
normal color vision
more

Clinical features from OMIM®:

608161 (Updated 05-Apr-2021)

UMLS symptoms related to Macular Dystrophy, Vitelliform, 3:


photophobia; metamorphopsia

GenomeRNAi Phenotypes related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability ratio GR00368-A 8.92 BEST1 IMPG1 IMPG2 PRPH2

Drugs & Therapeutics for Macular Dystrophy, Vitelliform, 3

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Vitelliform, 3

Genetic Tests for Macular Dystrophy, Vitelliform, 3

Genetic tests related to Macular Dystrophy, Vitelliform, 3:

# Genetic test Affiliating Genes
1 Macular Dystrophy, Vitelliform, Adult-Onset 29 PRPH2

Anatomical Context for Macular Dystrophy, Vitelliform, 3

MalaCards organs/tissues related to Macular Dystrophy, Vitelliform, 3:

40
Eye, Retina

Publications for Macular Dystrophy, Vitelliform, 3

Articles related to Macular Dystrophy, Vitelliform, 3:

(show all 41)
# Title Authors PMID Year
1
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 57 6 61
9338584 1997
2
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 57 6
15370544 2004
3
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. 6 57
7862413 1995
4
Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg) 6 57
7519821 1994
5
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 57 6
8485576 1993
6
A clinicopathologic study of a peculiar foveomacular dystrophy. 57 6
4142662 1974
7
Mutations in IMPG1 cause vitelliform macular dystrophies. 6 61
23993198 2013
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
9
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 6
25001182 2014
10
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 6
25085631 2014
11
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections. 6
22466463 2012
12
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 6
20673862 2010
13
Adult-onset foveomacular vitelliform dystrophy: a study by optical coherence tomography. 57
12614755 2003
14
A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. 6
12566026 2003
15
Adult-onset foveomacular vitelliform dystrophy with retinal folds. 57
11583679 2001
16
Monozygotic twin sisters with adult vitelliform macular dystrophy. 57
8352318 1993
17
Adult vitelliform macular dystrophy. 57
2323472 1990
18
Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations. 57
4088624 1985
19
Adult-onset foveomacular pigment epithelial dystrophy. 57
7377266 1980
20
VME-DWT: An Efficient Algorithm for Detection and Elimination of Eye Blink From Short Segments of Single EEG Channel. 61
33497337 2021
21
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. 61
32942919 2020
22
Adaptive variational mode decomposition and its application to multi-fault detection using mechanical vibration signals. 61
33189303 2020
23
The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies. 61
32278767 2020
24
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. 61
32660024 2020
25
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. 61
28831140 2017
26
[Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients]. 61
25312462 2014
27
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 61
24560797 2014
28
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. 61
21269699 2011
29
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. 61
17898294 2007
30
[Optical coherence tomography in diagnosing adult-onset vitelliform macular dystrophy]. 61
18488391 2007
31
Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. 61
16885924 2006
32
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). 61
16636205 2006
33
[Adult-onset vitelliform macular dystrophy (AVMD)--case report]. 61
16883959 2006
34
Morphology and functional characteristics in adult vitelliform macular dystrophy. 61
15579992 2004
35
[Clinical diagnostic prerequisites for adult vitelliform macular dystrophy]. 61
15067560 2004
36
Bestrophinopathies 61
20301346 2003
37
Adult vitelliform macular degeneration: a clinicopathological study. 61
12928683 2003
38
Morphological and functional analyses of adult onset vitelliform macular dystrophy. 61
12770976 2003
39
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 61
10854112 2000
40
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 61
10737974 2000
41
Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. 61
9152224 1997

Variations for Macular Dystrophy, Vitelliform, 3

ClinVar genetic disease variations for Macular Dystrophy, Vitelliform, 3:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPG2 NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic 143151 rs199867882 GRCh37: 3:100949961-100949961
GRCh38: 3:101231117-101231117
2 IMPG1 NM_001563.4(IMPG1):c.498-2A>G SNV Pathogenic 998365 GRCh37: 6:76734977-76734977
GRCh38: 6:76025260-76025260
3 IMPG2 NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) SNV Pathogenic 3550 rs201893545 GRCh37: 3:101023121-101023121
GRCh38: 3:101304277-101304277
4 PRPH2 NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter) SNV Pathogenic 13168 rs121918564 GRCh37: 6:42672157-42672157
GRCh38: 6:42704419-42704419
5 PRPH2 NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) SNV Pathogenic 13173 rs61755798 GRCh37: 6:42672302-42672302
GRCh38: 6:42704564-42704564
6 PRPH2 NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) SNV Pathogenic 13175 rs121918565 GRCh37: 6:42690071-42690071
GRCh38: 6:42722333-42722333
7 PRPH2 NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) SNV Pathogenic 13176 rs121918566 GRCh37: 6:42666127-42666127
GRCh38: 6:42698389-42698389
8 PRPH2 NM_000322.5(PRPH2):c.113del (p.Gly38fs) Deletion Pathogenic 13177 rs61755769 GRCh37: 6:42689960-42689960
GRCh38: 6:42722222-42722222
9 IMPG1 NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) SNV Pathogenic 162133 rs713993045 GRCh37: 6:76728529-76728529
GRCh38: 6:76018812-76018812
10 IMPG1 NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) SNV Pathogenic 162135 rs367576664 GRCh37: 6:76660584-76660584
GRCh38: 6:75950867-75950867
11 IMPG1 NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) SNV Pathogenic 162136 rs713993047 GRCh37: 6:76744345-76744345
GRCh38: 6:76034628-76034628
12 PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Pathogenic 98666 rs61755781 GRCh37: 6:42689651-42689651
GRCh38: 6:42721913-42721913
13 IMPG2 NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) SNV Pathogenic 162138 rs713993049 GRCh37: 3:100951628-100951628
GRCh38: 3:101232784-101232784
14 IMPG1 NM_001563.4(IMPG1):c.807+1G>T SNV Pathogenic 162134 rs713993046 GRCh37: 6:76728434-76728434
GRCh38: 6:76018717-76018717
15 IMPG2 NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) SNV Pathogenic 191181 rs763295314 GRCh37: 3:101010343-101010343
GRCh38: 3:101291499-101291499
16 PRPH2 NM_000322.5(PRPH2):c.314_315GT[1] (p.Val106fs) Microsatellite Pathogenic 599068 rs1562434117 GRCh37: 6:42689756-42689757
GRCh38: 6:42722018-42722019
17 IMPG2 NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter) SNV Pathogenic 1032726 GRCh37: 3:100962609-100962609
GRCh38: 3:101243765-101243765
18 IMPG2 NM_016247.4(IMPG2):c.81_85+5del Deletion Pathogenic 1032728 GRCh37: 3:101039127-101039136
GRCh38: 3:101320283-101320292
19 IMPG1 NM_001563.4(IMPG1):c.1836T>G (p.Tyr612Ter) SNV Pathogenic 1032753 GRCh37: 6:76657239-76657239
GRCh38: 6:75947522-75947522
20 PRPH2 NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) SNV Likely pathogenic 98722 rs61755767 GRCh37: 6:42689979-42689979
GRCh38: 6:42722241-42722241
21 PRPH2 NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) Deletion Likely pathogenic 975918 GRCh37: 6:42689824-42689827
GRCh38: 6:42722086-42722089
22 PRPH2 NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) SNV Likely pathogenic 98717 rs61748430 GRCh37: 6:42666170-42666170
GRCh38: 6:42698432-42698432
23 PRPH2 NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) SNV Likely pathogenic 992448 GRCh37: 6:42672263-42672263
GRCh38: 6:42704525-42704525
24 PRPH2 NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) SNV Likely pathogenic 438671 rs1554269071 GRCh37: 6:42672295-42672295
GRCh38: 6:42704557-42704557
25 PRPH2 NM_000322.5(PRPH2):c.829-1G>A SNV Likely pathogenic 829860 rs1582759782 GRCh37: 6:42666246-42666246
GRCh38: 6:42698508-42698508
26 IMPG2 NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) SNV Likely pathogenic 599088 rs1559642470 GRCh37: 3:100961738-100961738
GRCh38: 3:101242894-101242894
27 PRPH2 NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) SNV Uncertain significance 356780 rs886061404 GRCh37: 6:42689981-42689981
GRCh38: 6:42722243-42722243
28 PRPH2 NM_000322.5(PRPH2):c.-116C>G SNV Uncertain significance 356783 rs886061406 GRCh37: 6:42690188-42690188
GRCh38: 6:42722450-42722450
29 PRPH2 NM_000322.5(PRPH2):c.*351G>A SNV Uncertain significance 356768 rs551934443 GRCh37: 6:42665682-42665682
GRCh38: 6:42697944-42697944
30 PRPH2 NM_000322.5(PRPH2):c.*917G>A SNV Uncertain significance 356758 rs185036139 GRCh37: 6:42665116-42665116
GRCh38: 6:42697378-42697378
31 PRPH2 NM_000322.5(PRPH2):c.*1007C>A SNV Uncertain significance 356755 rs886061400 GRCh37: 6:42665026-42665026
GRCh38: 6:42697288-42697288
32 PRPH2 NM_000322.5(PRPH2):c.-60C>T SNV Uncertain significance 356782 rs144011444 GRCh37: 6:42690132-42690132
GRCh38: 6:42722394-42722394
33 PRPH2 NM_000322.5(PRPH2):c.-59G>A SNV Uncertain significance 356781 rs886061405 GRCh37: 6:42690131-42690131
GRCh38: 6:42722393-42722393
34 PRPH2 NM_000322.5(PRPH2):c.*1533A>G SNV Uncertain significance 908376 GRCh37: 6:42664500-42664500
GRCh38: 6:42696762-42696762
35 PRPH2 NM_000322.5(PRPH2):c.*152G>C SNV Uncertain significance 908832 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
36 PRPH2 NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) SNV Uncertain significance 909079 GRCh37: 6:42689589-42689589
GRCh38: 6:42721851-42721851
37 PRPH2 NM_000322.5(PRPH2):c.*743G>A SNV Uncertain significance 909503 GRCh37: 6:42665290-42665290
GRCh38: 6:42697552-42697552
38 PRPH2 NM_000322.5(PRPH2):c.*350C>T SNV Uncertain significance 908772 GRCh37: 6:42665683-42665683
GRCh38: 6:42697945-42697945
39 PRPH2 NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) SNV Uncertain significance 908891 GRCh37: 6:42666050-42666050
GRCh38: 6:42698312-42698312
40 PRPH2 NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) SNV Uncertain significance 908107 GRCh37: 6:42689906-42689906
GRCh38: 6:42722168-42722168
41 PRPH2 NM_000322.5(PRPH2):c.*692C>T SNV Uncertain significance 909504 GRCh37: 6:42665341-42665341
GRCh38: 6:42697603-42697603
42 PRPH2 NM_000322.5(PRPH2):c.*592A>T SNV Uncertain significance 356763 rs573416213 GRCh37: 6:42665441-42665441
GRCh38: 6:42697703-42697703
43 PRPH2 NM_000322.5(PRPH2):c.*1408G>C SNV Uncertain significance 356748 rs573667549 GRCh37: 6:42664625-42664625
GRCh38: 6:42696887-42696887
44 PRPH2 NM_000322.5(PRPH2):c.*154C>T SNV Uncertain significance 356772 rs886061403 GRCh37: 6:42665879-42665879
GRCh38: 6:42698141-42698141
45 PRPH2 NM_000322.5(PRPH2):c.*213A>C SNV Uncertain significance 356770 rs886061402 GRCh37: 6:42665820-42665820
GRCh38: 6:42698082-42698082
46 PRPH2 NM_000322.5(PRPH2):c.*1580C>G SNV Uncertain significance 356744 rs886061399 GRCh37: 6:42664453-42664453
GRCh38: 6:42696715-42696715
47 PRPH2 NM_000322.5(PRPH2):c.-166G>A SNV Uncertain significance 356784 rs886061407 GRCh37: 6:42690238-42690238
GRCh38: 6:42722500-42722500
48 PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=) SNV Uncertain significance 255826 rs189358082 GRCh37: 6:42672130-42672130
GRCh38: 6:42704392-42704392
49 PRPH2 NM_000322.5(PRPH2):c.*1299C>T SNV Uncertain significance 356752 rs535380944 GRCh37: 6:42664734-42664734
GRCh38: 6:42696996-42696996
50 IMPG1 NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr) SNV Uncertain significance 1027943 GRCh37: 6:76660352-76660352
GRCh38: 6:75950635-75950635

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Vitelliform, 3:

72
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Leu45Phe VAR_006855 rs61755770
2 PRPH2 p.Ser212Thr VAR_006878 rs61755801
3 PRPH2 p.Val268Ile VAR_006890 rs62645936
4 PRPH2 p.Gly305Asp VAR_006892 rs61748432
5 PRPH2 p.Cys213Phe VAR_071974
6 PRPH2 p.Tyr141Cys VAR_075761 rs61755781
7 PRPH2 p.Val209Ile VAR_075763 rs753657349

Expression for Macular Dystrophy, Vitelliform, 3

Search GEO for disease gene expression data for Macular Dystrophy, Vitelliform, 3.

Pathways for Macular Dystrophy, Vitelliform, 3

GO Terms for Macular Dystrophy, Vitelliform, 3

Cellular components related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.43 PRPH2 IMPG2 IMPG1
2 extracellular matrix GO:0031012 9.32 IMPG2 IMPG1
3 photoreceptor outer segment GO:0001750 9.16 PRPH2 IMPG1
4 photoreceptor inner segment GO:0001917 8.96 PRPH2 IMPG1
5 interphotoreceptor matrix GO:0033165 8.62 IMPG2 IMPG1

Biological processes related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 detection of light stimulus involved in visual perception GO:0050908 8.96 PRPH2 BEST1
2 visual perception GO:0007601 8.92 PRPH2 IMPG2 IMPG1 BEST1

Molecular functions related to Macular Dystrophy, Vitelliform, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.16 IMPG2 IMPG1
2 extracellular matrix structural constituent GO:0005201 8.96 IMPG2 IMPG1
3 hyaluronic acid binding GO:0005540 8.62 IMPG2 IMPG1

Sources for Macular Dystrophy, Vitelliform, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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