FALBI
MCID: FND001
MIFTS: 60

Fundus Albipunctatus (FALBI)

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

Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 56 12 25 58 73 13 43 15 39 71
Retinitis Punctata Albescens 56 12 58 73 29 6 71
Pigmentary Retinal Dystrophy 12 25 29 6
Rpa 58 73
Albipunctate Retinal Dystrophy 25
Lauber's Disease 25
Falbi 73
Fa 73

Characteristics:

Orphanet epidemiological data:

58
fundus albipunctatus
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;
retinitis punctata albescens
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11105
OMIM 56 136880
SNOMED-CT 67 764939004
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0311338 C1405854
UMLS 71 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 degeneration) 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 newfoundland rod-cone dystrophy and bothnia retinal dystrophy. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Signaling by GPCR and Drug metabolism - cytochrome P450. The drugs Beta carotene and Carotenoids have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are progressive visual loss and yellow/white lesions of the retina

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 : 56 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 : 73 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 : 74 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 1179)
# Related Disease Score Top Affiliating Genes
1 newfoundland rod-cone dystrophy 33.9 RLBP1 RDH5 PRPH2
2 bothnia retinal dystrophy 33.5 SDR9C7 RLBP1 RGR RDH5 RDH14
3 yemenite deaf-blind hypopigmentation syndrome 31.7 RPE65 RHO
4 cone dystrophy 31.4 RPE65 RLBP1 RHO RDH5 PRPH2 PDE6B
5 retinitis 31.4 RPE65 RLBP1 RHO RDH12 PRPH2 PDE6B
6 oguchi disease 1 31.3 SAG GRK1
7 cone-rod dystrophy 6 31.3 RPE65 RDH5 PRPH2 PDE6B CACNA1F
8 color blindness 31.2 RPE65 RHO PDE6B
9 night blindness 31.1 SAG RPE65 RLBP1 RHO RDH5 RBP3
10 scotoma 31.0 RPE65 RHO EYS
11 hereditary retinal dystrophy 31.0 RPE65 RHO PRPH2 EYS
12 retinoschisis 1, x-linked, juvenile 30.9 RPE65 RHO GRK1 CACNA1F
13 bardet-biedl syndrome 30.9 RPE65 RHO RDH12 PRPH2 EYS
14 oguchi disease 30.8 SAG RHO RDH5 PDE6B GRK1 GNAT1
15 achromatopsia 30.6 RPE65 RHO RDH12 PRPH2 PDE6B GRK1
16 autoimmune uveitis 30.5 SAG RPE65 RLBP1 RBP3
17 usher syndrome 30.4 RPE65 RHO RDH12 PRPH2 PDE6B EYS
18 retinal degeneration 30.3 SAG RPE65 RLBP1 RHO RDH5 RDH12
19 chorioretinitis 30.3 SAG RBP3
20 eye disease 30.3 SAG RPE65 RLBP1 RHO RDH12 RBP3
21 macular degeneration, age-related, 1 30.2 SAG RPE65 RLBP1 RHO RDH5 RDH12
22 inherited retinal disorder 30.1 SAG RPE65 RLBP1 RHO RGR RDH5
23 solar retinopathy 30.1 RLBP1 RHO RDH12
24 retinal disease 30.0 SAG RPE65 RLBP1 RHO RGR RDH5
25 congenital stationary night blindness 29.9 SAG RPE65 RLBP1 RHO RGR RDH5
26 choroiditis 29.8 SAG RBP3
27 retinitis pigmentosa 29.6 TTR SAG RPE65 RLBP1 RHO RGR
28 leber plus disease 29.3 SDR9C7 SAG RPE65 RLBP1 RHO RGR
29 fundus dystrophy 29.0 SDR9C7 SAG RPE65 RLBP1 RHO RGR
30 fanconi anemia, complementation group a 12.4
31 friedreich ataxia 12.1
32 autoimmune lymphoproliferative syndrome 12.1
33 fetal alcohol syndrome 12.1
34 ghose sachdev kumar syndrome 11.7
35 mycosis fungoides 11.6
36 graft-versus-host disease 11.6
37 fanconi anemia, complementation group d2 11.6
38 fanconi anemia, complementation group i 11.6
39 fetal alcohol spectrum disorder 11.6
40 fanconi anemia, complementation group l 11.6
41 fanconi anemia, complementation group j 11.5
42 fanconi anemia, complementation group d1 11.5
43 fanconi anemia, complementation group n 11.5
44 fanconi anemia, complementation group b 11.5
45 fanconi anemia, complementation group o 11.5
46 dianzani autoimmune lymphoproliferative disease 11.5
47 adult t-cell leukemia 11.4
48 fanconi anemia, complementation group c 11.4
49 fanconi anemia, complementation group e 11.4
50 fanconi anemia, complementation group p 11.4

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
2 yellow/white lesions of the retina 58 31 hallmark (90%) Very frequent (99-80%) HP:0030506
3 abnormal light- and dark-adapted electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0008323
4 absent foveal reflex 58 31 hallmark (90%) Very frequent (99-80%) HP:0030825
5 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
6 progressive night blindness 58 31 frequent (33%) Frequent (79-30%) HP:0007675
7 peripheral visual field loss 58 31 frequent (33%) Frequent (79-30%) HP:0007994
8 progressive visual field defects 58 31 frequent (33%) Frequent (79-30%) HP:0007987
9 retinal pigment epithelial mottling 58 31 frequent (33%) Frequent (79-30%) HP:0007814
10 attenuation of retinal blood vessels 58 31 frequent (33%) Frequent (79-30%) HP:0007843
11 central scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000603
12 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
13 macular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007401
14 cystoid macular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011505
15 lenticonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001142
16 abnormality of fundus pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0031605
17 pigmentary retinopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0000580
18 nyctalopia 58 Very frequent (99-80%)
19 retinal atrophy 58 Occasional (29-5%)
20 fundus albipunctatus 31 HP:0030642

Symptoms via clinical synopsis from OMIM:

56
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 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.72 RGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.72 SDR9C7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 SDR9C7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 RGR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 RDH10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.72 SDR9C7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.72 RGR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.72 GRK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.72 GRK1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 SAG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.72 GRK1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.72 SDR9C7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.72 SDR9C7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 SDR9C7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.72 RDH10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.72 SDR9C7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 RGR SAG
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 RGR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 SDR9C7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.72 GRK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 GRK1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.72 SAG
23 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.72 SAG
24 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 SAG

MGI Mouse Phenotypes related to Fundus Albipunctatus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
2 vision/eye MP:0005391 9.53 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
3 pigmentation MP:0001186 9.43 GNAT1 PDE6B PRPH2 RHO RLBP1 RPE65

Drugs & Therapeutics for Fundus Albipunctatus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
2 Carotenoids 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:

40
Retina, Eye, Testes

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 56 6 61
8554077 1996
2
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. 61 56
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. 61 56
14718298 2004
4
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 61 6
11868161 2002
5
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. 61 56
11812441 2002
6
Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. 61 6
11449319 2001
7
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 6 61
11453974 2001
8
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. 61 56
11153648 2000
9
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 61 56
10617778 1999
10
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 61 56
10369264 1999
11
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 61 6
10102299 1999
12
Retinitis punctata albescens. A functional evaluation of an unusual case. 61 56
14459667 1962
13
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 6
9326942 1997
14
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. 6
9197578 1997
15
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 6
8841304 1996
16
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). 6
1484692 1992
17
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. 6
1882937 1991
18
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 6
1862076 1991
19
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens. 61
32345050 2020
20
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. 61
32232344 2020
21
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. 61
31273949 2020
22
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. 61
31933420 2020
23
A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS. 61
28827498 2020
24
A retinitis punctata albescens family with biallelic mutations in retinaldehyde-binding Protein 1. 61
32001820 2020
25
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 61
31174678 2019
26
Retinal dystrophies and variants in PRPH2. 61
30726412 2019
27
ISCEV extended protocol for the dark-adapted red flash ERG. 61
29934801 2018
28
Synthetic 9-cis-beta-carotene inhibits photoreceptor degeneration in cultures of eye cups from rpe65rd12 mouse model of retinoid cycle defect. 61
29666392 2018
29
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 61
28711739 2017
30
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. 61
28654958 2017
31
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. 61
28764803 2017
32
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. 61
28393863 2017
33
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. 61
27627638 2017
34
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 61
26906952 2016
35
[Retinitis punctata albescens]. 61
28154728 2016
36
Fundus albipunctatus. 61
27217886 2016
37
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 61
25820994 2015
38
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. 61
25429852 2015
39
The kinetics of regeneration of rhodopsin under enzyme-limited availability of 11-cis retinoid. 61
25769401 2015
40
Implantation of refractive multifocal intraocular lens with a surface-embedded near section for cataract eyes complicated with a coexisting ocular pathology. 61
25744442 2015
41
RDH5 retinopathy (fundus albipunctatus) with preserved rod function. 61
25170858 2015
42
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. 61
24922193 2014
43
Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy. 61
24246574 2014
44
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. 61
23929416 2013
45
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. 61
22551409 2013
46
Multimodal imaging in hereditary retinal diseases. 61
23710333 2013
47
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. 61
22559933 2012
48
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. 61
22669287 2012
49
Clinical features of a Japanese case with Bothnia dystrophy. 61
22171637 2012
50
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 61
22736946 2012

Variations for Fundus Albipunctatus

ClinVar genetic disease variations for Fundus Albipunctatus:

6 (show top 50) (show all 183) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYS NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter)indel Pathogenic 812316 6:65301398-65301399 6:64591505-64591506
2 RDH5 NM_002905.5(RDH5):c.71_74del (p.Leu24fs)deletion Pathogenic 812391 12:56115036-56115039 12:55721252-55721255
3 RDH5 NM_002905.5(RDH5):c.412del (p.Met138fs)deletion Pathogenic 812392 12:56115573-56115573 12:55721789-55721789
4 RDH5 NM_002905.5(RDH5):c.547G>T (p.Glu183Ter)SNV Pathogenic 812393 12:56115709-56115709 12:55721925-55721925
5 RDH5 NM_002905.5(RDH5):c.718dup (p.Ala240fs)duplication Pathogenic 812394 12:56117811-56117812 12:55724027-55724028
6 RDH5 NM_002905.4(RDH5):c.382G>A (p.Asp128Asn)SNV Pathogenic 635161 rs377029071 12:56115544-56115544 12:55721760-55721760
7 RLBP1 NM_000326.5(RLBP1):c.79del (p.Thr27fs)deletion Pathogenic 635160 rs1567124404 15:89761858-89761858 15:89218627-89218627
8 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His)SNV Pathogenic 13013 rs104893768 3:129247644-129247644 3:129528801-129528801
9 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp)SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917
10 RLBP1 NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)SNV Pathogenic 13097 rs137853290 15:89758364-89758364 15:89215133-89215133
11 RLBP1 RLBP1, 324G-ASNV Pathogenic 13099
12 RDH5 NM_002905.4(RDH5):c.712G>T (p.Gly238Trp)SNV Pathogenic 8003 rs62638191 12:56117812-56117812 12:55724028-55724028
13 RDH5 NM_002905.4(RDH5):c.839G>A (p.Arg280His)SNV Pathogenic 8005 rs62638193 12:56118211-56118211 12:55724427-55724427
14 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)SNV Pathogenic 13100 rs28933990 15:89754025-89754025 15:89210794-89210794
15 RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)SNV Pathogenic 13101 rs137853291 15:89754981-89754981 15:89211750-89211750
16 RDH5 NM_002905.5(RDH5):c.285G>A (p.Trp95Ter)SNV Pathogenic 208608 rs774122562 12:56115253-56115253 12:55721469-55721469
17 RDH5 NM_002905.4(RDH5):c.160C>T (p.Arg54Ter)SNV Pathogenic 279881 rs769035379 12:56115128-56115128 12:55721344-55721344
18 RDH5 NM_001199771.2(RDH5):c.880G>C (p.Ala294Pro)SNV Pathogenic/Likely pathogenic 8006 rs111033593 12:56118252-56118252 12:55724468-55724468
19 RDH5 NM_002905.5(RDH5):c.-33+2dupduplication Likely pathogenic 623474 rs1565653781 12:56114302-56114303 12:55720518-55720519
20 RLBP1 NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)SNV Likely pathogenic 812398 15:89755056-89755056 15:89211825-89211825
21 RLBP1 NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)SNV Likely pathogenic 829822 15:89753972-89753972 15:89210741-89210741
22 RLBP1 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)deletion Likely pathogenic 191289 rs786205626 15:89760400-89760411 15:89217169-89217180
23 RLBP1 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)SNV Conflicting interpretations of pathogenicity 197133 rs77384282 15:89761908-89761908 15:89218677-89218677
24 PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=)SNV Conflicting interpretations of pathogenicity 255826 rs189358082 6:42672130-42672130 6:42704392-42704392
25 RDH5 NM_002905.4(RDH5):c.97A>G (p.Ile33Val)SNV Conflicting interpretations of pathogenicity 258859 rs62638195 12:56115065-56115065 12:55721281-55721281
26 PRPH2 NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)SNV Conflicting interpretations of pathogenicity 98702 rs61755813 6:42672223-42672223 6:42704485-42704485
27 PRPH2 NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)SNV Conflicting interpretations of pathogenicity 98721 rs61748434 6:42666136-42666136 6:42698398-42698398
28 PRPH2 NM_000322.5(PRPH2):c.*1687C>TSNV Conflicting interpretations of pathogenicity 356743 rs139177846 6:42664346-42664346 6:42696608-42696608
29 PRPH2 NM_000322.5(PRPH2):c.*797G>ASNV Conflicting interpretations of pathogenicity 356761 rs188694434 6:42665236-42665236 6:42697498-42697498
30 PRPH2 NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)SNV Conflicting interpretations of pathogenicity 356776 rs752365478 6:42666066-42666066 6:42698328-42698328
31 PRPH2 NM_000322.5(PRPH2):c.252C>T (p.Asp84=)SNV Conflicting interpretations of pathogenicity 356779 rs139936445 6:42689821-42689821 6:42722083-42722083
32 PRPH2 NM_000322.5(PRPH2):c.*1565G>ASNV Conflicting interpretations of pathogenicity 356745 rs41273818 6:42664468-42664468 6:42696730-42696730
33 PRPH2 NM_000322.5(PRPH2):c.*20C>TSNV Conflicting interpretations of pathogenicity 356775 rs180775924 6:42666013-42666013 6:42698275-42698275
34 PRPH2 NM_000322.5(PRPH2):c.312C>T (p.Ile104=)SNV Conflicting interpretations of pathogenicity 356778 rs200009675 6:42689761-42689761 6:42722023-42722023
35 RLBP1 NM_000326.5(RLBP1):c.*356G>ASNV Conflicting interpretations of pathogenicity 317225 rs190236976 15:89753160-89753160 15:89209929-89209929
36 RLBP1 NM_000326.5(RLBP1):c.924C>G (p.Pro308=)SNV Conflicting interpretations of pathogenicity 317231 rs144615495 15:89753546-89753546 15:89210315-89210315
37 RLBP1 NM_000326.5(RLBP1):c.795+15C>TSNV Conflicting interpretations of pathogenicity 317236 rs181863443 15:89753915-89753915 15:89210684-89210684
38 RLBP1 NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)SNV Conflicting interpretations of pathogenicity 317242 rs201865787 15:89760506-89760506 15:89217275-89217275
39 PRPH2 NM_000322.5(PRPH2):c.454A>G (p.Met152Val)SNV Conflicting interpretations of pathogenicity 846922 6:42689619-42689619 6:42721881-42721881
40 PRPH2 NM_000322.5(PRPH2):c.*1079G>ASNV Conflicting interpretations of pathogenicity 908512 6:42664954-42664954 6:42697216-42697216
41 PRPH2 NM_000322.5(PRPH2):c.*509G>ASNV Conflicting interpretations of pathogenicity 910496 6:42665524-42665524 6:42697786-42697786
42 PRPH2 NM_000322.5(PRPH2):c.888C>T (p.Pro296=)SNV Conflicting interpretations of pathogenicity 498453 rs183714869 6:42666186-42666186 6:42698448-42698448
43 PRPH2 NM_000322.5(PRPH2):c.*152G>ASNV Conflicting interpretations of pathogenicity 909688 6:42665881-42665881 6:42698143-42698143
44 PRPH2 NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)SNV Conflicting interpretations of pathogenicity 910955 6:42690029-42690029 6:42722291-42722291
45 PRPH2 NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)SNV Conflicting interpretations of pathogenicity 908960 6:42666119-42666119 6:42698381-42698381
46 PRPH2 NM_000322.5(PRPH2):c.852C>A (p.Arg284=)SNV Conflicting interpretations of pathogenicity 909882 6:42666222-42666222 6:42698484-42698484
47 RLBP1 NM_000326.5(RLBP1):c.105C>T (p.Gly35=)SNV Conflicting interpretations of pathogenicity 885500 15:89761832-89761832 15:89218601-89218601
48 RLBP1 NM_000326.5(RLBP1):c.303C>T (p.Arg101=)SNV Conflicting interpretations of pathogenicity 92847 rs144254383 15:89760394-89760394 15:89217163-89217163
49 PRPH2 NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)SNV Conflicting interpretations of pathogenicity 98653 rs61755770 6:42689940-42689940 6:42722202-42722202
50 PRPH2 NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)SNV Conflicting interpretations of pathogenicity 98658 rs61755775 6:42689824-42689824 6:42722086-42722086

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

73 (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

Pathways related to Fundus Albipunctatus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 TTR SDR9C7 SAG RPE65 RLBP1 RHO
2
Show member pathways
12.68 RPE65 RHO RDH5 RDH14 RDH12 RDH11
3
Show member pathways
12.05 SAG RPE65 RHO RDH5 RDH12 PDE6B
4
Show member pathways
11.8 TTR SDR9C7 SAG RPE65 RLBP1 RHO
5 11.77 TTR SAG RPE65 RLBP1 RHO RDH5
6
Show member pathways
11.6 TTR SDR9C7 RPE65 RLBP1 RHO RDH5
7
Show member pathways
11.55 RDH5 RDH14 RDH11 RDH10
8 11.36 RPE65 RLBP1 RDH5 RDH12 RDH10
9
Show member pathways
10.76 TTR RLBP1
10 10.41 RHO RGR

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 projection GO:0042995 9.93 SAG RHO PRPH2 GRK1 GNAT1 EYS
2 endoplasmic reticulum membrane GO:0005789 9.91 RPE65 RDH5 RDH14 RDH12 RDH11 RDH10
3 cell body GO:0044297 9.54 RPE65 RLBP1 RDH5
4 photoreceptor disc membrane GO:0097381 9.46 RHO PDE6B GRK1 GNAT1
5 photoreceptor outer segment membrane GO:0042622 9.4 RHO GNAT1
6 photoreceptor inner segment GO:0001917 9.35 SAG RHO RDH12 PRPH2 GNAT1
7 interphotoreceptor matrix GO:0033165 9.32 RBP3 EYS
8 photoreceptor outer segment GO:0001750 9.28 SAG RHO RGR PRPH2 PDE6B GRK1
9 photoreceptor inner segment membrane GO:0060342 9.26 RHO RDH12

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.04 SDR9C7 RPE65 RDH5 RDH14 RDH12 RDH11
2 response to stimulus GO:0050896 9.93 RPE65 RLBP1 RHO RGR RDH5 RDH12
3 retina development in camera-type eye GO:0060041 9.83 RPE65 RHO PRPH2 PDE6B GNAT1
4 retinol metabolic process GO:0042572 9.8 TTR RPE65 RDH5 RDH14 RDH12 RDH11
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 SAG RHO PDE6B GRK1 GNAT1
6 rhodopsin mediated signaling pathway GO:0016056 9.72 SAG RHO PDE6B GRK1 GNAT1
7 detection of light stimulus involved in visual perception GO:0050908 9.71 RPE65 GNAT1 EYS CACNA1F
8 phototransduction GO:0007602 9.7 RHO RGR GNAT1
9 response to light stimulus GO:0009416 9.69 RPE65 RHO GNAT1
10 retinal metabolic process GO:0042574 9.65 RPE65 RDH11 RDH10
11 phototransduction, visible light GO:0007603 9.63 RHO PDE6B GNAT1
12 retinoid metabolic process GO:0001523 9.61 TTR RPE65 RLBP1 RHO RDH5 RDH12
13 cellular response to light stimulus GO:0071482 9.58 RHO RGR
14 protein-chromophore linkage GO:0018298 9.58 RHO RGR
15 cellular response to electrical stimulus GO:0071257 9.57 RPE65 GNAT1
16 vitamin A metabolic process GO:0006776 9.56 RPE65 RLBP1
17 cellular detoxification of aldehyde GO:0110095 9.55 RDH12 RDH11
18 detection of light stimulus GO:0009583 9.54 RHO PDE6B
19 visual perception GO:0007601 9.47 RPE65 RLBP1 RHO RGR RDH5 RDH12

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.63 SDR9C7 RDH5 RDH14 RDH12 RDH11 RDH10
2 G protein-coupled photoreceptor activity GO:0008020 9.43 RHO RGR
3 retinol binding GO:0019841 9.4 RLBP1 RBP3
4 photoreceptor activity GO:0009881 9.37 RHO RGR
5 retinal binding GO:0016918 9.32 RLBP1 RBP3
6 11-cis retinal binding GO:0005502 9.26 RLBP1 RHO
7 NADP-retinol dehydrogenase activity GO:0052650 9.26 RDH14 RDH12 RDH11 RDH10
8 retinol dehydrogenase activity GO:0004745 9.02 SDR9C7 RDH5 RDH12 RDH11 RDH10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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