FALBI
MCID: FND001
MIFTS: 60

Fundus Albipunctatus (FALBI)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 57 12 25 59 74 13 44 15 40 72
Retinitis Punctata Albescens 57 12 59 74 29 6 72
Pigmentary Retinal Dystrophy 12 25 29 6
Albipunctate Retinal Dystrophy 25
Lauber's Disease 25
Falbi 74
Rpa 74
Fa 74

Characteristics:

Orphanet epidemiological data:

59
fundus albipunctatus
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;
retinitis punctata albescens
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant


HPO:

32

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11105
OMIM 57 136880
ICD9CM 35 362.74
SNOMED-CT 68 68222009
ICD10 33 H35.52
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C0311338 C1405854
UMLS 72 C0311338 C1405854

Summaries for Fundus Albipunctatus

Genetics Home Reference : 25 Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination. Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal. The flecks are especially abundant near the outer edge (the periphery) of the retina. Their density varies among affected individuals; some people have numerous flecks that overlap, while others have fewer. For unknown reasons, the flecks get smaller or fade with age in some affected individuals, although night vision does not improve. While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular dystrophy) with loss of specialized light receptor cells called cones, which can affect vision in bright light.

MalaCards based summary : Fundus Albipunctatus, also known as retinitis punctata albescens, is related to retinitis and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Signaling by GPCR and Phototransduction. The drugs Beta carotene and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are progressive visual loss and abnormal light- and dark-adapted electroretinogram

Disease Ontology : 12 A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.

OMIM : 57 This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). (136880)

UniProtKB/Swiss-Prot : 74 Fundus albipunctatus: A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. Retinitis punctata albescens: A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.

Wikipedia : 75 White dot syndromes are inflammatory diseases characterized by the presence of white dots on the fundus,... more...

Related Diseases for Fundus Albipunctatus

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

(show top 50) (show all 1160)
# Related Disease Score Top Affiliating Genes
1 retinitis 31.5 RLBP1 RHO PRPH2
2 yemenite deaf-blind hypopigmentation syndrome 31.5 RPE65 RHO
3 macular degeneration, age-related, 1 30.1 RPE65 RLBP1 RHO PRPH2
4 chorioretinitis 29.5 SAG RBP3
5 autoimmune uveitis 29.4 SAG RLBP1 RBP3
6 posterior uveitis 29.1 SAG RBP3
7 leber congenital amaurosis 29.0 RPE65 RHO PRPH2 PDE6B GRK1
8 retinal degeneration 28.3 SAG RPE65 RLBP1 RHO PRPH2 PDE6B
9 night blindness 27.8 SAG RPE65 RHO RDH5 PDE6B GRK1
10 retinal disease 27.7 SAG RPE65 RLBP1 RHO PRPH2 PDE6B
11 oguchi disease 27.6 SAG RHO RDH5 PDE6B GRK1 GNAT1
12 fundus dystrophy 26.9 SDR9C7 RPE65 RLBP1 RHO RDH5 RBP3
13 congenital stationary night blindness 26.7 SAG RPE65 RHO RDH5 RBP3 PDE6B
14 retinitis pigmentosa 26.0 SAG RPE65 RLBP1 RHO RDH5 RBP3
15 fanconi anemia, complementation group a 12.4
16 friedreich ataxia 1 12.1
17 autoimmune lymphoproliferative syndrome 12.1
18 fetal alcohol syndrome 12.1
19 bothnia retinal dystrophy 12.0
20 newfoundland rod-cone dystrophy 12.0
21 ghose sachdev kumar syndrome 11.7
22 mycosis fungoides 11.6
23 graft-versus-host disease 11.6
24 fanconi anemia, complementation group d2 11.6
25 fanconi anemia, complementation group i 11.5
26 fetal alcohol spectrum disorder 11.5
27 fanconi anemia, complementation group l 11.5
28 fanconi anemia, complementation group j 11.5
29 fanconi anemia, complementation group d1 11.5
30 fanconi anemia, complementation group n 11.5
31 fanconi anemia, complementation group b 11.5
32 dianzani autoimmune lymphoproliferative disease 11.5
33 fanconi anemia, complementation group o 11.5
34 adult t-cell leukemia 11.4
35 fanconi anemia, complementation group c 11.4
36 fanconi anemia, complementation group e 11.4
37 fanconi anemia, complementation group p 11.4
38 retinal dystrophy, reticular pigmentary, of posterior pole 11.3
39 fanconi anemia, complementation group f 11.2
40 fanconi anemia, complementation group g 11.2
41 fibrodysplasia ossificans progressiva 11.1
42 otodental dysplasia 11.1
43 eosinophilic fasciitis 11.1
44 caspase 8 deficiency 11.1
45 fanconi anemia, complementation group q 11.1
46 neuroretinitis 10.7
47 autoimmune disease 10.7
48 colorectal adenoma 10.7
49 cone dystrophy 10.7
50 night blindness, congenital stationary, autosomal dominant 2 10.7

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



Diseases related to Fundus Albipunctatus

Symptoms & Phenotypes for Fundus Albipunctatus

Human phenotypes related to Fundus Albipunctatus:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000529
2 abnormal light- and dark-adapted electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0008323
3 yellow/white lesions of the retina 59 32 hallmark (90%) Very frequent (99-80%) HP:0030506
4 absent foveal reflex 59 32 hallmark (90%) Very frequent (99-80%) HP:0030825
5 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
6 central scotoma 59 32 frequent (33%) Frequent (79-30%) HP:0000603
7 retinal pigment epithelial mottling 59 32 frequent (33%) Frequent (79-30%) HP:0007814
8 progressive night blindness 59 32 frequent (33%) Frequent (79-30%) HP:0007675
9 peripheral visual field loss 59 32 frequent (33%) Frequent (79-30%) HP:0007994
10 progressive visual field defects 59 32 frequent (33%) Frequent (79-30%) HP:0007987
11 attenuation of retinal blood vessels 59 32 frequent (33%) Frequent (79-30%) HP:0007843
12 congenital sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008527
13 cystoid macular edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0011505
14 macular atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007401
15 lenticonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001142
16 abnormality of fundus pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0031605
17 pigmentary retinopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0000580
18 nyctalopia 59 Very frequent (99-80%)
19 retinal atrophy 59 Occasional (29-5%)
20 fundus albipunctatus 32 HP:0030642

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
fleck retina disease
discrete uniform white dots over entire fundus
cone dysfunction seen on erg (in some patients)
macular involvement (in some patients)
more

Clinical features from OMIM:

136880

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.17 GNAT1 PDE6B RBP3 RDH5 RHO RPE65

MGI Mouse Phenotypes related to Fundus Albipunctatus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
2 pigmentation MP:0001186 9.43 GNAT1 PDE6B PRPH2 RHO RLBP1 RPE65
3 vision/eye MP:0005391 9.36 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3

Drugs & Therapeutics for Fundus Albipunctatus

Drugs for Fundus Albipunctatus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
2 Micronutrients Phase 1, Phase 2
3 Trace Elements Phase 1, Phase 2
4 Antioxidants Phase 1, Phase 2
5 Carotenoids Phase 1, Phase 2
6 Protective Agents Phase 1, Phase 2
7 Vitamins Phase 1, Phase 2
8 Provitamins Phase 1, Phase 2
9 Nutrients Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
2 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
3 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
4 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Completed NCT01256697

Search NIH Clinical Center for Fundus Albipunctatus

Cochrane evidence based reviews: fundus albipunctatus

Genetic Tests for Fundus Albipunctatus

Genetic tests related to Fundus Albipunctatus:

# Genetic test Affiliating Genes
1 Retinitis Punctata Albescens 29
2 Pigmentary Retinal Dystrophy 29 PRPH2 RDH5 RHO RLBP1

Anatomical Context for Fundus Albipunctatus

MalaCards organs/tissues related to Fundus Albipunctatus:

41
Retina, Eye, Testes

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 187)
# Title Authors PMID Year
1
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 38 8 71
8554077 1996
2
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. 38 8
15790919 2005
3
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. 38 8
14718298 2004
4
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 38 71
11868161 2002
5
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. 38 8
11812441 2002
6
Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. 38 71
11449319 2001
7
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 38 71
11453974 2001
8
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. 38 8
11153648 2000
9
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 38 8
10617778 1999
10
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 38 8
10369264 1999
11
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 38 71
10102299 1999
12
Retinitis punctata albescens. A functional evaluation of an unusual case. 38 8
14459667 1962
13
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 71
9326942 1997
14
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. 71
9197578 1997
15
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 71
8841304 1996
16
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). 71
1484692 1992
17
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. 71
1882937 1991
18
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 71
1862076 1991
19
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. 38
31273949 2019
20
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 38
31174678 2019
21
Retinal dystrophies and variants in PRPH2. 38
30726412 2019
22
ISCEV extended protocol for the dark-adapted red flash ERG. 38
29934801 2018
23
Synthetic 9-cis-beta-carotene inhibits photoreceptor degeneration in cultures of eye cups from rpe65rd12 mouse model of retinoid cycle defect. 38
29666392 2018
24
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 38
28711739 2017
25
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. 38
28654958 2017
26
A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS. 38
28827498 2017
27
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. 38
28764803 2017
28
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. 38
28393863 2017
29
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. 38
27627638 2017
30
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 38
26906952 2016
31
[Retinitis punctata albescens]. 38
28154728 2016
32
Fundus albipunctatus. 38
27217886 2016
33
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 38
25820994 2015
34
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. 38
25429852 2015
35
Implantation of refractive multifocal intraocular lens with a surface-embedded near section for cataract eyes complicated with a coexisting ocular pathology. 38
25744442 2015
36
The kinetics of regeneration of rhodopsin under enzyme-limited availability of 11-cis retinoid. 38
25769401 2015
37
RDH5 retinopathy (fundus albipunctatus) with preserved rod function. 38
25170858 2015
38
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. 38
24922193 2014
39
Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy. 38
24246574 2014
40
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. 38
23929416 2013
41
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. 38
22551409 2013
42
Multimodal imaging in hereditary retinal diseases. 38
23710333 2013
43
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. 38
22559933 2012
44
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. 38
22669287 2012
45
Clinical features of a Japanese case with Bothnia dystrophy. 38
22171637 2012
46
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 38
22736946 2012
47
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. 38
22815624 2012
48
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. 38
22137173 2011
49
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 38
21529959 2011
50
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. 38
21447491 2011

Variations for Fundus Albipunctatus

ClinVar genetic disease variations for Fundus Albipunctatus:

6 (show top 50) (show all 111)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RDH5 NM_002905.4(RDH5): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs62638193 12:56118211-56118211 12:55724427-55724427
2 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 3:129247644-129247644 3:129528801-129528801
3 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 3:129249760-129249760 3:129530917-129530917
4 RLBP1 NM_000326.5(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 15:89758364-89758364 15:89215133-89215133
5 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic
6 RLBP1 NM_000326.5(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 15:89754025-89754025 15:89210794-89210794
7 RLBP1 NM_000326.5(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 15:89754981-89754981 15:89211750-89211750
8 RDH5 NM_002905.4(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 12:56115253-56115253 12:55721469-55721469
9 RDH5 NM_002905.4(RDH5): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic 12:56115544-56115544 12:55721760-55721760
10 RLBP1 NM_000326.5(RLBP1): c.79del (p.Thr27fs) deletion Pathogenic 15:89761859-89761859 15:89218628-89218628
11 RDH5 NM_002905.4(RDH5): c.-33+2dup duplication Likely pathogenic 12:56114303-56114303 12:55720519-55720519
12 RLBP1 NM_000326.5(RLBP1): c.141+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181321141 15:89761790-89761790 15:89218559-89218559
13 PRPH2 NM_000322.5(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 6:42672130-42672130 6:42704392-42704392
14 RDH5 NM_002905.4(RDH5): c.97A> G (p.Ile33Val) single nucleotide variant Conflicting interpretations of pathogenicity rs62638195 12:56115065-56115065 12:55721281-55721281
15 RLBP1 NM_000326.5(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 15:89755113-89755113 15:89211882-89211882
16 RLBP1 NM_000326.5(RLBP1): c.303C> T (p.Arg101=) single nucleotide variant Conflicting interpretations of pathogenicity rs144254383 15:89760394-89760394 15:89217163-89217163
17 PRPH2 NM_000322.5(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 6:42666136-42666136 6:42698398-42698398
18 PRPH2 NM_000322.5(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 6:42665820-42665820 6:42698082-42698082
19 PRPH2 NM_000322.5(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 6:42665879-42665879 6:42698141-42698141
20 PRPH2 NM_000322.5(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 6:42690131-42690131 6:42722393-42722393
21 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 6:42690354-42690354 6:42722616-42722616
22 PRPH2 NM_000322.5(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 6:42664346-42664346 6:42696608-42696608
23 PRPH2 NM_000322.5(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 6:42664453-42664453 6:42696715-42696715
24 PRPH2 NM_000322.5(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 6:42664734-42664734 6:42696996-42696996
25 PRPH2 NM_000322.5(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 6:42664625-42664625 6:42696887-42696887
26 PRPH2 NM_000322.5(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 6:42665116-42665116 6:42697378-42697378
27 PRPH2 NM_000322.5(PRPH2): c.*351G> A single nucleotide variant Uncertain significance rs551934443 6:42665682-42665682 6:42697944-42697944
28 PRPH2 NM_000322.5(PRPH2): c.1008C> T (p.Gly336=) single nucleotide variant Uncertain significance rs752365478 6:42666066-42666066 6:42698328-42698328
29 PRPH2 NM_000322.5(PRPH2): c.252C> T (p.Asp84=) single nucleotide variant Uncertain significance rs139936445 6:42689821-42689821 6:42722083-42722083
30 PRPH2 NM_000322.5(PRPH2): c.92G> T (p.Gly31Val) single nucleotide variant Uncertain significance rs886061404 6:42689981-42689981 6:42722243-42722243
31 PRPH2 NM_000322.5(PRPH2): c.-116C> G single nucleotide variant Uncertain significance rs886061406 6:42690188-42690188 6:42722450-42722450
32 PRPH2 NM_000322.5(PRPH2): c.-166G> A single nucleotide variant Uncertain significance rs886061407 6:42690238-42690238 6:42722500-42722500
33 PRPH2 NM_000322.5(PRPH2): c.*1565G> A single nucleotide variant Uncertain significance rs41273818 6:42664468-42664468 6:42696730-42696730
34 PRPH2 NM_000322.5(PRPH2): c.*1121A> C single nucleotide variant Uncertain significance rs187919973 6:42664912-42664912 6:42697174-42697174
35 PRPH2 NM_000322.5(PRPH2): c.*1007C> A single nucleotide variant Uncertain significance rs886061400 6:42665026-42665026 6:42697288-42697288
36 PRPH2 NM_000322.5(PRPH2): c.*20C> T single nucleotide variant Uncertain significance rs180775924 6:42666013-42666013 6:42698275-42698275
37 PRPH2 NM_000322.5(PRPH2): c.649A> G (p.Ser217Gly) single nucleotide variant Uncertain significance rs767471467 6:42672282-42672282 6:42704544-42704544
38 PRPH2 NM_000322.5(PRPH2): c.312C> T (p.Ile104=) single nucleotide variant Uncertain significance rs200009675 6:42689761-42689761 6:42722023-42722023
39 PRPH2 NM_000322.5(PRPH2): c.-60C> T single nucleotide variant Uncertain significance rs144011444 6:42690132-42690132 6:42722394-42722394
40 PRPH2 NM_000322.5(PRPH2): c.*797G> A single nucleotide variant Uncertain significance rs188694434 6:42665236-42665236 6:42697498-42697498
41 PRPH2 NM_000322.5(PRPH2): c.*592A> T single nucleotide variant Uncertain significance rs573416213 6:42665441-42665441 6:42697703-42697703
42 PRPH2 NM_000322.5(PRPH2): c.*483_*484dup duplication Uncertain significance rs55851577 6:42665549-42665550 6:42697811-42697812
43 RDH5 NM_002905.4(RDH5): c.776C> T (p.Pro259Leu) single nucleotide variant Uncertain significance rs748586229 12:56118148-56118148 12:55724364-55724364
44 RDH5 NM_002905.4(RDH5): c.793A> G (p.Ser265Gly) single nucleotide variant Uncertain significance rs771063598 12:56118165-56118165 12:55724381-55724381
45 RDH5 NM_002905.4(RDH5): c.*148G> T single nucleotide variant Uncertain significance rs886049677 12:56118477-56118477 12:55724693-55724693
46 RLBP1 NM_000326.5(RLBP1): c.-104T> G single nucleotide variant Uncertain significance rs886051502 15:89762971-89762971 15:89219740-89219740
47 RLBP1 NM_000326.5(RLBP1): c.353T> G (p.Val118Gly) single nucleotide variant Uncertain significance rs762121817 15:89758463-89758463 15:89215232-89215232
48 RLBP1 NM_000326.5(RLBP1): c.107C> T (p.Pro36Leu) single nucleotide variant Uncertain significance rs200143313 15:89761830-89761830 15:89218599-89218599
49 RLBP1 NM_000326.5(RLBP1): c.-233G> A single nucleotide variant Uncertain significance rs886051504 15:89764775-89764775 15:89221544-89221544
50 RLBP1 NM_000326.5(RLBP1): c.-234C> T single nucleotide variant Uncertain significance rs779779512 15:89764776-89764776 15:89221545-89221545

UniProtKB/Swiss-Prot genetic disease variations for Fundus Albipunctatus:

74 (show all 20)
# Symbol AA change Variation ID SNP ID
1 RDH5 p.Ser73Phe VAR_009273 rs62638185
2 RDH5 p.Gly238Trp VAR_009274 rs62638191
3 RDH5 p.Gly35Ser VAR_016814 rs759359491
4 RDH5 p.Gly107Arg VAR_016815
5 RDH5 p.Val132Met VAR_016816 rs62638187
6 RDH5 p.Val164Phe VAR_016817 rs755168439
7 RDH5 p.Val177Gly VAR_016818 rs104894373
8 RDH5 p.Cys267Trp VAR_016819
9 RDH5 p.Arg280His VAR_016820 rs62638193
10 RDH5 p.Tyr281His VAR_016821 rs62638194
11 RDH5 p.Ala294Pro VAR_016822 rs111033593
12 RDH5 p.Leu105Ile VAR_068716 rs765993603
13 RDH5 p.Asp128Asn VAR_068717 rs377029071
14 RDH5 p.Arg157Trp VAR_068718 rs104894374
15 RDH5 p.Val264Gly VAR_068719
16 RDH5 p.Tyr175Phe VAR_075309 rs758411232
17 RDH5 p.Met253Arg VAR_081462 rs780377973
18 RDH5 p.Lys179Arg VAR_081472 rs781112960
19 RLBP1 p.Arg151Gln VAR_005140 rs137853290
20 RLBP1 p.Met226Lys VAR_037317 rs137853291

Expression for Fundus Albipunctatus

Search GEO for disease gene expression data for Fundus Albipunctatus.

Pathways for Fundus Albipunctatus

GO Terms for Fundus Albipunctatus

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

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 9.43 RPE65 RLBP1 RDH5
2 photoreceptor inner segment GO:0001917 9.33 SAG RHO GNAT1
3 photoreceptor outer segment membrane GO:0042622 9.32 RHO GNAT1
4 photoreceptor disc membrane GO:0097381 9.26 RHO PDE6B GRK1 GNAT1
5 photoreceptor outer segment GO:0001750 9.02 SAG RHO PRPH2 GNAT1 CACNA1F

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.86 RPE65 RLBP1 RHO RDH5 PDE6B GRK1
2 retina development in camera-type eye GO:0060041 9.77 RPE65 RHO PRPH2 PDE6B GNAT1
3 retinoid metabolic process GO:0001523 9.72 RPE65 RLBP1 RHO RDH5 RBP3
4 response to light stimulus GO:0009416 9.63 RPE65 RHO GNAT1
5 detection of light stimulus involved in visual perception GO:0050908 9.61 RPE65 GNAT1 CACNA1F
6 phototransduction, visible light GO:0007603 9.58 RHO PDE6B GNAT1
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.55 SAG RHO PDE6B GRK1 GNAT1
8 retinol metabolic process GO:0042572 9.54 RPE65 RDH5
9 phototransduction GO:0007602 9.52 RHO GNAT1
10 cellular response to electrical stimulus GO:0071257 9.51 RPE65 GNAT1
11 vitamin A metabolic process GO:0006776 9.49 RPE65 RLBP1
12 detection of light stimulus GO:0009583 9.48 RHO PDE6B
13 rhodopsin mediated signaling pathway GO:0016056 9.35 SAG RHO PDE6B GRK1 GNAT1
14 visual perception GO:0007601 9.32 RPE65 RLBP1 RHO RDH5 RBP3 PRPH2

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

# Name GO ID Score Top Affiliating Genes
1 retinol dehydrogenase activity GO:0004745 9.26 SDR9C7 RDH5
2 retinol binding GO:0019841 9.16 RLBP1 RBP3
3 retinal binding GO:0016918 8.96 RLBP1 RBP3
4 11-cis retinal binding GO:0005502 8.62 RLBP1 RHO

Sources for Fundus Albipunctatus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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