FALBI
MCID: FND001
MIFTS: 61

Fundus Albipunctatus (FALBI)

Categories: Eye diseases, Genetic 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
Albipunctate Retinal Dystrophy 25
Lauber's Disease 25
Falbi 73
Rpa 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
ICD9CM 34 362.74
SNOMED-CT 67 68222009
ICD10 32 H35.52
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 Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include retina, t cells and eye, 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 : 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 1183)
# Related Disease Score Top Affiliating Genes
1 newfoundland rod-cone dystrophy 33.5 RLBP1 RHO RDH5 PRPH2 LRAT
2 bothnia retinal dystrophy 33.4 RLBP1 RDH5 RDH14 PRPH2 LRAT
3 retinitis 31.7 RPE65 RLBP1 RHO PRPH2 PDE6B
4 cone dystrophy 31.5 RPE65 RLBP1 RHO RDH5 PRPH2 PDE6B
5 yemenite deaf-blind hypopigmentation syndrome 31.3 RPE65 RHO
6 oguchi disease 1 31.3 SAG GRK1
7 retinitis pigmentosa 4 31.2 RHO GNAT1
8 hypercarotenemia and vitamin a deficiency, autosomal dominant 31.1 TTR LRAT
9 cone-rod dystrophy 6 31.1 RPE65 RDH5 PRPH2 PDE6B GRK1 CACNA1F
10 scotoma 31.0 RPE65 RHO PRPH2
11 hereditary retinal dystrophy 31.0 RPE65 RHO RDH12
12 retinoschisis 1, x-linked, juvenile 31.0 RPE65 RHO CACNA1F
13 oguchi disease 30.7 SAG RHO RDH5 PDE6B GRK1 GNAT1
14 night blindness 30.7 SAG RPE65 RLBP1 RHO RDH5 RBP3
15 macular degeneration, age-related, 2 30.7 RPE65 RHO
16 achromatopsia 30.6 RPE65 RHO RDH12 PRPH2 PDE6B GRK1
17 usher syndrome 30.5 RPE65 RHO RDH12 PRPH2 PDE6B
18 inherited retinal disorder 30.5 RPE65 RGR RDH12 PRPH2 PDE6B LRAT
19 autoimmune uveitis 30.4 SAG RPE65 RLBP1 RBP3
20 chorioretinitis 30.1 SAG RBP3
21 eye disease 30.1 SAG RPE65 RLBP1 RHO RDH12 RBP3
22 solar retinopathy 30.1 RLBP1 RHO RDH12
23 macular degeneration, age-related, 1 29.9 RPE65 RLBP1 RHO RDH5 RDH12 RBP3
24 retinal degeneration 29.8 SAG RPE65 RLBP1 RHO RDH5 RDH12
25 congenital stationary night blindness 29.8 SAG RPE65 RLBP1 RHO RGR RDH5
26 retinal disease 29.8 SAG RPE65 RLBP1 RHO RGR RDH5
27 choroiditis 29.7 SAG RBP3
28 retinitis pigmentosa 29.2 TTR SAG RPE65 RLBP1 RHO RGR
29 leber congenital amaurosis 29.0 SDR9C7 SAG RPE65 RLBP1 RHO RGR
30 fundus dystrophy 28.6 SDR9C7 SAG RPE65 RLBP1 RHO RGR
31 fanconi anemia, complementation group a 12.4
32 friedreich ataxia 12.1
33 autoimmune lymphoproliferative syndrome 12.1
34 fetal alcohol syndrome 12.1
35 ghose sachdev kumar syndrome 11.7
36 mycosis fungoides 11.6
37 graft-versus-host disease 11.6
38 fanconi anemia, complementation group d2 11.6
39 fanconi anemia, complementation group i 11.5
40 fetal alcohol spectrum disorder 11.5
41 fanconi anemia, complementation group l 11.5
42 fanconi anemia, complementation group j 11.5
43 fanconi anemia, complementation group d1 11.5
44 fanconi anemia, complementation group n 11.5
45 fanconi anemia, complementation group b 11.5
46 dianzani autoimmune lymphoproliferative disease 11.5
47 fanconi anemia, complementation group o 11.5
48 adult t-cell leukemia 11.4
49 fanconi anemia, complementation group c 11.4
50 fanconi anemia, complementation group e 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 abnormal light- and dark-adapted electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0008323
3 yellow/white lesions of the retina 58 31 hallmark (90%) Very frequent (99-80%) HP:0030506
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 peripheral visual field loss 58 31 frequent (33%) Frequent (79-30%) HP:0007994
7 central scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000603
8 retinal pigment epithelial mottling 58 31 frequent (33%) Frequent (79-30%) HP:0007814
9 progressive night blindness 58 31 frequent (33%) Frequent (79-30%) HP:0007675
10 progressive visual field defects 58 31 frequent (33%) Frequent (79-30%) HP:0007987
11 attenuation of retinal blood vessels 58 31 frequent (33%) Frequent (79-30%) HP:0007843
12 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
13 cystoid macular edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0011505
14 macular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007401
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 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 RGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 SAG
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.85 SAG
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 RDH10
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 SDR9C7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.85 SDR9C7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.85 RGR SDR9C7
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 RGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.85 RDH10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.85 SDR9C7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.85 SAG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 GRK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 SDR9C7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.85 RGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.85 SAG
16 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.85 RGR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 GRK1 SDR9C7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.85 SDR9C7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.85 GRK1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 RGR SAG
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 GRK1 RDH10 RGR SAG SDR9C7
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.85 SDR9C7
23 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.85 GRK1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.85 RDH10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 GRK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.85 SAG
27 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.85 SAG

MGI Mouse Phenotypes related to Fundus Albipunctatus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 CACNA1F GNAT1 GRK1 LRAT PDE6B PRPH2
2 vision/eye MP:0005391 9.55 CACNA1F GNAT1 GRK1 LRAT PDE6B PRPH2
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):

(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 Trace Elements Phase 1, Phase 2
3 Carotenoids Phase 1, Phase 2
4 Micronutrients Phase 1, Phase 2
5 Antioxidants Phase 1, Phase 2
6 Protective Agents Phase 1, Phase 2
7 Provitamins Phase 1, Phase 2
8 Vitamins 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

Anatomical Context for Fundus Albipunctatus

MalaCards organs/tissues related to Fundus Albipunctatus:

40
Retina, T Cells, Eye, Thyroid, Bone, B Cells, Kidney

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 189)
# Title Authors PMID Year
1
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 61 56 6
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. 61 6
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 retinitis punctata albescens family with biallelic mutations in retinaldehyde-binding Protein 1. 61
32001820 2020
20
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. 61
31933420 2020
21
A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS. 61
28827498 2020
22
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. 61
31273949 2019
23
RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. 61
31174678 2019
24
Retinal dystrophies and variants in PRPH2. 61
30726412 2019
25
ISCEV extended protocol for the dark-adapted red flash ERG. 61
29934801 2018
26
Synthetic 9-cis-beta-carotene inhibits photoreceptor degeneration in cultures of eye cups from rpe65rd12 mouse model of retinoid cycle defect. 61
29666392 2018
27
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 61
28711739 2017
28
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. 61
28654958 2017
29
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. 61
28764803 2017
30
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. 61
28393863 2017
31
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. 61
27627638 2017
32
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 61
26906952 2016
33
[Retinitis punctata albescens]. 61
28154728 2016
34
Fundus albipunctatus. 61
27217886 2016
35
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 61
25820994 2015
36
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. 61
25429852 2015
37
Implantation of refractive multifocal intraocular lens with a surface-embedded near section for cataract eyes complicated with a coexisting ocular pathology. 61
25744442 2015
38
The kinetics of regeneration of rhodopsin under enzyme-limited availability of 11-cis retinoid. 61
25769401 2015
39
RDH5 retinopathy (fundus albipunctatus) with preserved rod function. 61
25170858 2015
40
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. 61
24922193 2014
41
Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy. 61
24246574 2014
42
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. 61
23929416 2013
43
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. 61
22551409 2013
44
Multimodal imaging in hereditary retinal diseases. 61
23710333 2013
45
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. 61
22559933 2012
46
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. 61
22669287 2012
47
Clinical features of a Japanese case with Bothnia dystrophy. 61
22171637 2012
48
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. 61
22815624 2012
49
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 61
22736946 2012
50
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. 61
22137173 2011

Variations for Fundus Albipunctatus

ClinVar genetic disease variations for Fundus Albipunctatus:

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RDH5 NM_002905.4(RDH5):c.285G>A (p.Trp95Ter)SNV Pathogenic 208608 rs774122562 12:56115253-56115253 12:55721469-55721469
2 RDH5 NM_002905.4(RDH5):c.712G>T (p.Gly238Trp)SNV Pathogenic 8003 rs62638191 12:56117812-56117812 12:55724028-55724028
3 RDH5 NM_002905.4(RDH5):c.839G>A (p.Arg280His)SNV Pathogenic 8005 rs62638193 12:56118211-56118211 12:55724427-55724427
4 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His)SNV Pathogenic 13013 rs104893768 3:129247644-129247644 3:129528801-129528801
5 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp)SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917
6 RLBP1 NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln)SNV Pathogenic 13097 rs137853290 15:89758364-89758364 15:89215133-89215133
7 RLBP1 RLBP1, 324G-ASNV Pathogenic 13099
8 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)SNV Pathogenic 13100 rs28933990 15:89754025-89754025 15:89210794-89210794
9 RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)SNV Pathogenic 13101 rs137853291 15:89754981-89754981 15:89211750-89211750
10 RDH5 NM_002905.4(RDH5):c.382G>A (p.Asp128Asn)SNV Pathogenic 635161 rs377029071 12:56115544-56115544 12:55721760-55721760
11 RLBP1 NM_000326.5(RLBP1):c.79del (p.Thr27fs)deletion Pathogenic 635160 rs1567124404 15:89761858-89761858 15:89218627-89218627
12 RDH5 NM_002905.5(RDH5):c.-33+2dupduplication Likely pathogenic 623474 rs1565653781 12:56114302-56114303 12:55720518-55720519
13 RLBP1 NM_000326.5(RLBP1):c.141+6G>ASNV Conflicting interpretations of pathogenicity 317243 rs181321141 15:89761790-89761790 15:89218559-89218559
14 RLBP1 NM_000326.5(RLBP1):c.303C>T (p.Arg101=)SNV Conflicting interpretations of pathogenicity 92847 rs144254383 15:89760394-89760394 15:89217163-89217163
15 PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=)SNV Conflicting interpretations of pathogenicity 255826 rs189358082 6:42672130-42672130 6:42704392-42704392
16 RDH5 NM_002905.4(RDH5):c.97A>G (p.Ile33Val)SNV Conflicting interpretations of pathogenicity 258859 rs62638195 12:56115065-56115065 12:55721281-55721281
17 RLBP1 NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)SNV Conflicting interpretations of pathogenicity 281739 rs142244640 15:89755113-89755113 15:89211882-89211882
18 PRPH2 NM_000322.5(PRPH2):c.*1580C>GSNV Uncertain significance 356744 rs886061399 6:42664453-42664453 6:42696715-42696715
19 PRPH2 NM_000322.5(PRPH2):c.*1299C>TSNV Uncertain significance 356752 rs535380944 6:42664734-42664734 6:42696996-42696996
20 PRPH2 NM_000322.5(PRPH2):c.*154C>TSNV Uncertain significance 356772 rs886061403 6:42665879-42665879 6:42698141-42698141
21 PRPH2 NM_000322.5(PRPH2):c.-59G>ASNV Uncertain significance 356781 rs886061405 6:42690131-42690131 6:42722393-42722393
22 PRPH2 NM_000322.4(PRPH2):c.-282G>ASNV Uncertain significance 356785 rs886061408 6:42690354-42690354 6:42722616-42722616
23 PRPH2 NM_000322.5(PRPH2):c.*1687C>TSNV Uncertain significance 356743 rs139177846 6:42664346-42664346 6:42696608-42696608
24 PRPH2 NM_000322.5(PRPH2):c.*213A>CSNV Uncertain significance 356770 rs886061402 6:42665820-42665820 6:42698082-42698082
25 PRPH2 NM_000322.5(PRPH2):c.*1408G>CSNV Uncertain significance 356748 rs573667549 6:42664625-42664625 6:42696887-42696887
26 PRPH2 NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)SNV Uncertain significance 98721 rs61748434 6:42666136-42666136 6:42698398-42698398
27 PRPH2 NM_000322.5(PRPH2):c.*917G>ASNV Uncertain significance 356758 rs185036139 6:42665116-42665116 6:42697378-42697378
28 PRPH2 NM_000322.5(PRPH2):c.*797G>ASNV Uncertain significance 356761 rs188694434 6:42665236-42665236 6:42697498-42697498
29 PRPH2 NM_000322.5(PRPH2):c.*592A>TSNV Uncertain significance 356763 rs573416213 6:42665441-42665441 6:42697703-42697703
30 PRPH2 NM_000322.5(PRPH2):c.*351G>ASNV Uncertain significance 356768 rs551934443 6:42665682-42665682 6:42697944-42697944
31 PRPH2 NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)SNV Uncertain significance 356776 rs752365478 6:42666066-42666066 6:42698328-42698328
32 PRPH2 NM_000322.5(PRPH2):c.252C>T (p.Asp84=)SNV Uncertain significance 356779 rs139936445 6:42689821-42689821 6:42722083-42722083
33 PRPH2 NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)SNV Uncertain significance 356780 rs886061404 6:42689981-42689981 6:42722243-42722243
34 PRPH2 NM_000322.5(PRPH2):c.-116C>GSNV Uncertain significance 356783 rs886061406 6:42690188-42690188 6:42722450-42722450
35 PRPH2 NM_000322.5(PRPH2):c.-166G>ASNV Uncertain significance 356784 rs886061407 6:42690238-42690238 6:42722500-42722500
36 PRPH2 NM_000322.5(PRPH2):c.*1565G>ASNV Uncertain significance 356745 rs41273818 6:42664468-42664468 6:42696730-42696730
37 PRPH2 NM_000322.5(PRPH2):c.*1121A>CSNV Uncertain significance 356754 rs187919973 6:42664912-42664912 6:42697174-42697174
38 PRPH2 NM_000322.5(PRPH2):c.*1007C>ASNV Uncertain significance 356755 rs886061400 6:42665026-42665026 6:42697288-42697288
39 PRPH2 NM_000322.5(PRPH2):c.*20C>TSNV Uncertain significance 356775 rs180775924 6:42666013-42666013 6:42698275-42698275
40 PRPH2 NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)SNV Uncertain significance 356777 rs767471467 6:42672282-42672282 6:42704544-42704544
41 PRPH2 NM_000322.5(PRPH2):c.312C>T (p.Ile104=)SNV Uncertain significance 356778 rs200009675 6:42689761-42689761 6:42722023-42722023
42 PRPH2 NM_000322.5(PRPH2):c.-60C>TSNV Uncertain significance 356782 rs144011444 6:42690132-42690132 6:42722394-42722394
43 PRPH2 NM_000322.5(PRPH2):c.*483_*484dupduplication Uncertain significance 356765 rs55851577 6:42665548-42665549 6:42697810-42697811
44 PRPH2 NM_000322.5(PRPH2):c.*468_*469deldeletion Uncertain significance 356767 rs886061401 6:42665564-42665565 6:42697826-42697827
45 PRPH2 NM_000322.5(PRPH2):c.*1524G>CSNV Uncertain significance 356747 rs183409467 6:42664509-42664509 6:42696771-42696771
46 RDH5 NM_002905.4(RDH5):c.776C>T (p.Pro259Leu)SNV Uncertain significance 309815 rs748586229 12:56118148-56118148 12:55724364-55724364
47 RDH5 NM_002905.4(RDH5):c.793A>G (p.Ser265Gly)SNV Uncertain significance 309816 rs771063598 12:56118165-56118165 12:55724381-55724381
48 RDH5 NM_002905.4(RDH5):c.*148G>TSNV Uncertain significance 309819 rs886049677 12:56118477-56118477 12:55724693-55724693
49 RLBP1 NM_000326.5(RLBP1):c.-104T>GSNV Uncertain significance 317247 rs886051502 15:89762971-89762971 15:89219740-89219740
50 RLBP1 NM_000326.5(RLBP1):c.228G>A (p.Ser76=)SNV Uncertain significance 317241 rs202116993 15:89760469-89760469 15:89217238-89217238

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
13.99 TTR SDR9C7 SAG RPE65 RLBP1 RHO
2
Show member pathways
12.73 RPE65 RHO RDH5 RDH14 RDH12 RDH11
3
Show member pathways
12.1 SAG RPE65 RHO RDH5 RDH12 PDE6B
4
Show member pathways
11.83 TTR SDR9C7 SAG RPE65 RLBP1 RHO
5 11.8 TTR SAG RPE65 RLBP1 RHO RDH5
6
Show member pathways
11.64 TTR SDR9C7 RPE65 RLBP1 RHO RDH5
7
Show member pathways
11.55 RDH5 RDH14 RDH11 RDH10
8 11.44 RPE65 RLBP1 RDH5 RDH12 RDH10 LRAT
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 membrane GO:0016020 10.33 SAG RPE65 RHO RGR RDH5 RDH14
2 endoplasmic reticulum GO:0005783 9.98 RPE65 RDH5 RDH14 RDH12 RDH11 RDH10
3 endoplasmic reticulum membrane GO:0005789 9.87 RPE65 RDH5 RDH14 RDH12 RDH11 RDH10
4 cell body GO:0044297 9.54 RPE65 RLBP1 RDH5
5 photoreceptor inner segment GO:0001917 9.46 SAG RHO RDH12 GNAT1
6 photoreceptor outer segment membrane GO:0042622 9.4 RHO GNAT1
7 photoreceptor inner segment membrane GO:0060342 9.26 RHO RDH12
8 photoreceptor disc membrane GO:0097381 9.26 RHO PDE6B GRK1 GNAT1
9 photoreceptor outer segment GO:0001750 9.17 SAG RHO RGR PRPH2 GRK1 GNAT1

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 10.05 SDR9C7 RPE65 RDH5 RDH14 RDH12 RDH11
2 response to stimulus GO:0050896 10 RPE65 RLBP1 RHO RGR RDH5 RDH12
3 retina development in camera-type eye GO:0060041 9.8 RPE65 RHO PRPH2 PDE6B GNAT1
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.77 SAG RHO PDE6B GRK1 GNAT1
5 retinol metabolic process GO:0042572 9.76 TTR RPE65 RDH5 RDH14 RDH12 RDH11
6 rhodopsin mediated signaling pathway GO:0016056 9.72 SAG RHO PDE6B GRK1 GNAT1
7 phototransduction GO:0007602 9.71 RHO RGR GNAT1
8 response to light stimulus GO:0009416 9.7 RPE65 RHO GNAT1
9 detection of light stimulus involved in visual perception GO:0050908 9.67 RPE65 GNAT1 CACNA1F
10 retinal metabolic process GO:0042574 9.65 RPE65 RDH11 RDH10
11 retinoid metabolic process GO:0001523 9.65 TTR RPE65 RLBP1 RHO RDH5 RDH12
12 phototransduction, visible light GO:0007603 9.63 RHO PDE6B GNAT1
13 vitamin A metabolic process GO:0006776 9.61 RPE65 RLBP1 LRAT
14 cellular response to light stimulus GO:0071482 9.58 RHO RGR
15 protein-chromophore linkage GO:0018298 9.58 RHO RGR
16 cellular response to electrical stimulus GO:0071257 9.57 RPE65 GNAT1
17 cellular detoxification of aldehyde GO:0110095 9.56 RDH12 RDH11
18 detection of light stimulus GO:0009583 9.55 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 9.73 SDR9C7 RDH5 RDH14 RDH12 RDH11 RDH10
2 G protein-coupled photoreceptor activity GO:0008020 9.43 RHO RGR
3 photoreceptor activity GO:0009881 9.4 RHO RGR
4 retinal binding GO:0016918 9.37 RLBP1 RBP3
5 retinol binding GO:0019841 9.33 RLBP1 RBP3 LRAT
6 11-cis retinal binding GO:0005502 9.32 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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