Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 29 6
Retinal Dystrophies 44 73
Dystrophy, Retinal 40

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 44 D058499
NCIt 50 C35625
UMLS 73 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to hereditary retinal dystrophy and severe early-childhood-onset retinal dystrophy. An important gene associated with Fundus Dystrophy is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Phototransduction. Affiliated tissues include eye, bone and retina, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Fundus Dystrophy

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

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 hereditary retinal dystrophy 34.1 CEP290 GUCY2D RS1
2 severe early-childhood-onset retinal dystrophy 34.1 ABCA4 LCA5 RPE65
3 cone-rod dystrophy 2 33.6 ABCA4 CERKL GUCY2D IQCB1 RPE65 RPGR
4 senior-loken syndrome 1 33.4 CEP290 IQCB1 RPGR
5 macular dystrophy, dominant cystoid 32.8 BEST1 CRB1
6 joubert syndrome 1 32.6 CEP290 IQCB1 LCA5 RPGR
7 leber congenital amaurosis 10 32.5 CEP290 IQCB1 RPE65
8 retinitis pigmentosa 44 32.5 RDH12 RGR RPGR
9 retinitis pigmentosa 3 32.5 ABCA4 IQCB1 RPGR
10 leber congenital amaurosis 3 32.5 LCA5 RDH12
11 retinitis pigmentosa 50 32.5 BEST1 RPGR
12 retinitis pigmentosa 19 32.4 ABCA4 PDE6B
13 retinoschisis 1, x-linked, juvenile 32.2 CRB1 RPE65 RS1
14 alstrom syndrome 32.2 BBS1 RPGR VPS13B
15 bardet-biedl syndrome 3 31.8 BBS1 BBS4
16 leber congenital amaurosis 31.7 ABCA4 BEST1 CEP290 CRB1 GUCY2D IQCB1
17 stargardt disease 31.5 ABCA4 CRB1 EYS RDH12 RPE65 RPGR
18 leber congenital amaurosis 12 30.7 CEP290 GUCY2D RPE65
19 leber congenital amaurosis 9 30.7 CRB1 GUCY2D LCA5 RDH12 RPE65
20 bardet-biedl syndrome 30.7 BBS1 BBS10 BBS4 CEP290
21 macular degeneration, age-related, 1 30.6 ABCA4 BBS10 BEST1 CRB1 RPE65
22 retinitis 30.4 CERKL EYS RPGR
23 macular retinal edema 30.4 BEST1 CRB1
24 retinitis pigmentosa 30.3 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1
25 retinal degeneration 30.2 ABCA4 BEST1 CRB1 GUCY2D PDE6B RPE65
26 retinal disease 30.2 ABCA4 BEST1 CEP290 CRB1 GUCY2D PDE6B
27 congenital stationary night blindness 30.1 ABCA4 PDE6B RPE65
28 sorsby fundus dystrophy 12.7
29 doyne honeycomb retinal dystrophy 12.6
30 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.5
31 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.5
32 bothnia retinal dystrophy 12.5
33 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.4
34 pseudoinflammatory fundus dystrophy 12.4
35 retinal dystrophy and obesity 12.4
36 retinal dystrophy with or without macular staphyloma 12.4
37 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.3
38 retinal dystrophy with or without extraocular anomalies 12.3
39 retinal dystrophy, reticular pigmentary, of posterior pole 12.2
40 fundus dystrophy, pseudoinflammatory, recessive form 12.1
41 retinal dystrophy and iris coloboma with or without congenital cataract 12.1
42 macular dystrophy, retinal, 3 12.0
43 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 12.0
44 retinal dystrophies primarily involving bruch's membrane 12.0
45 retinal dystrophy in systemic or cerebroretinal lipidoses 12.0
46 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 12.0
47 cone-rod dystrophy 16 12.0
48 leber congenital amaurosis 14 11.9
49 cone-rod dystrophy 21 11.8
50 microphthalmia, syndromic 5 11.7

Graphical network of the top 20 diseases related to Fundus Dystrophy:



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

GenomeRNAi Phenotypes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 GUCY2D
2 Decreased viability GR00221-A-1 10.1 CERKL GUCY2D
3 Decreased viability GR00221-A-2 10.1 GUCY2D
4 Decreased viability GR00221-A-3 10.1 CERKL GUCY2D
5 Decreased viability GR00221-A-4 10.1 GUCY2D
6 Decreased viability GR00240-S-1 10.1 GUCY2D
7 Decreased viability GR00402-S-2 10.1 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1
8 no effect GR00402-S-1 9.62 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1
9 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 9.46 CDHR1 CERKL PDE6B RPGR

MGI Mouse Phenotypes related to Fundus Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 ABCA4 BBS1 BBS10 BBS4 CEP290 CRB1
2 pigmentation MP:0001186 9.65 ABCA4 BBS4 BEST1 CEP290 CRB1 LCA5
3 vision/eye MP:0005391 9.55 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1

Drugs & Therapeutics for Fundus Dystrophy

Search Clinical Trials , NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 29

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

41
Eye, Bone, Retina, Testes, Endothelial, Pituitary, Bone Marrow

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 433)
# Title Authors Year
1
Sorsby fundus dystrophy: Insights from the past and looking to the future. ( 30129971 )
2019
2
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. ( 29395598 )
2018
3
Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy. ( 29627037 )
2018
4
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). ( 30019980 )
2018
5
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. ( 30541486 )
2018
6
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. ( 30421618 )
2018
7
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. ( 30549415 )
2018
8
Retinal detachment in a child with severe early childhood onset retinal dystrophy. ( 30150358 )
2018
9
TOPICAL DORZOLAMIDE FOR CYSTOID MACULAR EDEMA IN BIETTI CRYSTALLINE RETINAL DYSTROPHY. ( 30028788 )
2018
10
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. ( 29987673 )
2018
11
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. ( 30090012 )
2018
12
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. ( 30134391 )
2018
13
A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. ( 30160356 )
2018
14
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort. ( 30193314 )
2018
15
The Natural History of Inherited Retinal Dystrophy due to Biallelic Mutations in the RPE65 Gene. ( 30268864 )
2018
16
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy. ( 30324420 )
2018
17
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). ( 30446867 )
2018
18
Posterior polar annular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case. ( 30451210 )
2018
19
Commentary: Posterior polarannular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case. ( 30451211 )
2018
20
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene. ( 30488743 )
2018
21
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes. ( 28726569 )
2018
22
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. ( 29068140 )
2018
23
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy. ( 29500424 )
2018
24
Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation. ( 29564403 )
2018
25
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation. ( 29568000 )
2018
26
Voretigene neparvovec-rzyl (Luxturna) for inherited retinal dystrophy. ( 29635265 )
2018
27
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. ( 29681726 )
2018
28
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. ( 29869534 )
2018
29
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. ( 30004997 )
2018
30
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. ( 30029497 )
2018
31
Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy. ( 30064895 )
2018
32
RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. ( 30074569 )
2018
33
Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal I^-Oxidation of Very-long-chain Fatty Acids. ( 27899449 )
2017
34
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. ( 28847738 )
2017
35
Heterozygous mutation in <i>OTX2</i> associated with early-onset retinal dystrophy with atypical maculopathy. ( 29204067 )
2017
36
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. ( 28752371 )
2017
37
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. ( 28689169 )
2017
38
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. ( 28044389 )
2017
39
Association of Steroid 5I+-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
40
Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. ( 28635423 )
2017
41
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. ( 28272537 )
2017
42
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. ( 28819299 )
2017
43
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. ( 28775088 )
2017
44
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
45
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. ( 28337834 )
2017
46
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. ( 27029556 )
2017
47
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. ( 28761320 )
2017
48
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ( 29186038 )
2017
49
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. ( 28586915 )
2017
50
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. ( 28369829 )
2017

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 752)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
2 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh38 Chromosome 8, 43173740: 43173740
3 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
4 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh38 Chromosome 3, 121781772: 121781772
5 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
6 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh38 Chromosome 14, 67729338: 67729342
7 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
8 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
9 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs80338902 GRCh37 Chromosome 1, 216420460: 216420460
10 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs80338902 GRCh38 Chromosome 1, 216247118: 216247118
11 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
12 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
13 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
14 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
15 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
16 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh38 Chromosome 4, 15994028: 15994028
17 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
18 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
19 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh37 Chromosome 1, 94517254: 94517254
20 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh38 Chromosome 1, 94051698: 94051698
21 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
22 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
23 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
24 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
25 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh37 Chromosome 1, 94528806: 94528806
26 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh38 Chromosome 1, 94063250: 94063250
27 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
28 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
29 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
30 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh38 Chromosome 17, 8014701: 8014701
31 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
32 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh38 Chromosome X, 18647213: 18647213
33 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
34 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh38 Chromosome X, 46853731: 46853731
35 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
36 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
37 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
38 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh38 Chromosome 1, 197434706: 197434706
39 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh37 Chromosome 9, 2717747: 2717750
40 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh38 Chromosome 9, 2717747: 2717750
41 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh37 Chromosome 11, 76853873: 76853873
42 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh38 Chromosome 11, 77142827: 77142827
43 USH2A NM_206933.2(USH2A): c.5858C> G (p.Ala1953Gly) single nucleotide variant Uncertain significance rs41302239 GRCh37 Chromosome 1, 216243634: 216243634
44 USH2A NM_206933.2(USH2A): c.5858C> G (p.Ala1953Gly) single nucleotide variant Uncertain significance rs41302239 GRCh38 Chromosome 1, 216070292: 216070292
45 USH2A NM_206933.2(USH2A): c.8320G> A (p.Ala2774Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs111033533 GRCh37 Chromosome 1, 216052344: 216052344
46 USH2A NM_206933.2(USH2A): c.8320G> A (p.Ala2774Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs111033533 GRCh38 Chromosome 1, 215879002: 215879002
47 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
48 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
49 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
50 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790

Expression for Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for Fundus Dystrophy

GO Terms for Fundus Dystrophy

Cellular components related to Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
2 centrosome GO:0005813 9.85 BBS1 BBS4 CEP290 IQCB1 RPGR
3 centriole GO:0005814 9.67 BBS4 CEP290 IQCB1
4 microtubule organizing center GO:0005815 9.63 BBS1 BBS4 CEP290 IQCB1 LCA5 RPGR
5 ciliary basal body GO:0036064 9.62 BBS1 BBS4 CEP290 RPGR
6 photoreceptor inner segment GO:0001917 9.58 BBS4 CERKL CRB1
7 photoreceptor connecting cilium GO:0032391 9.54 BBS4 CEP290 IQCB1
8 BBSome GO:0034464 9.43 BBS1 BBS4
9 photoreceptor disc membrane GO:0097381 9.43 ABCA4 GUCY2D PDE6B
10 cilium GO:0005929 9.43 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
11 photoreceptor outer segment GO:0001750 9.02 ABCA4 BBS4 CERKL IQCB1 RPGR

Biological processes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 BBS1 BBS4 CEP290 LCA5 VPS13B
2 cilium assembly GO:0060271 9.8 BBS1 BBS4 CEP290 IQCB1 RPGR
3 response to stimulus GO:0050896 9.77 ABCA4 BBS1 BBS10 BBS4 BEST1 EYS
4 cell projection organization GO:0030030 9.72 BBS1 BBS4 CEP290 IQCB1 RPGR
5 photoreceptor cell maintenance GO:0045494 9.7 ABCA4 BBS1 BBS10 BBS4 CDHR1 IQCB1
6 retinoid metabolic process GO:0001523 9.63 ABCA4 RDH12 RPE65
7 non-motile cilium assembly GO:1905515 9.61 BBS1 BBS10 BBS4
8 protein localization to cilium GO:0061512 9.56 BBS1 BBS4
9 retina homeostasis GO:0001895 9.56 BBS1 BBS10 BBS4 RPE65
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 GUCY2D PDE6B
11 detection of light stimulus involved in visual perception GO:0050908 9.54 BEST1 EYS RPE65
12 intraciliary transport GO:0042073 9.52 LCA5 RPGR
13 eye photoreceptor cell development GO:0042462 9.51 CEP290 CRB1
14 photoreceptor cell outer segment organization GO:0035845 9.49 BBS4 CDHR1
15 phototransduction, visible light GO:0007603 9.48 ABCA4 PDE6B
16 visual perception GO:0007601 9.44 ABCA4 BBS1 BBS10 BBS4 BEST1 EYS

Molecular functions related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS1 BBS10 BBS4

Sources for Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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