MCID: FND001
MIFTS: 53

Fundus Albipunctatus

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 57 12 25 59 75 13 44 15 73
Retinitis Punctata Albescens 57 12 59 75 29 6 73
Pigmentary Retinal Dystrophy 12 25 29 6
Albipunctate Retinal Dystrophy 25
Fundus Albipunctatus ) 40
Lauber's Disease 25
Falbi 75
Rpa 75
Fa 75

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 dominant
autosomal recessive


HPO:

32

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 136880
Disease Ontology 12 DOID:11105
ICD10 33 H35.52
ICD9CM 35 362.74
SNOMED-CT 68 68222009
UMLS via Orphanet 74 C0311338 C1405854
ICD10 via Orphanet 34 H35.5
SNOMED-CT via HPO 69 263681008 258211005

Summaries for Fundus Albipunctatus

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Fundus Albipunctatus, also known as retinitis punctata albescens, is related to retinitis and night blindness. 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 Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are fundus albipunctatus and Decreased viability in esophageal squamous lineage

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)

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.

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.

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 138)
# Related Disease Score Top Affiliating Genes
1 retinitis 31.0 PRPH2 RHO RLBP1
2 night blindness 26.2 CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
3 fundus dystrophy 25.1 GRK1 PDE6B PRPH2 RBP3 RDH5 RHO
4 retinitis pigmentosa 23.9 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
5 fanconi anemia, complementation group a 12.0
6 autoimmune lymphoproliferative syndrome 11.7
7 fetal alcohol syndrome 11.7
8 friedreich ataxia 1 11.5
9 bothnia retinal dystrophy 11.4
10 fetal alcohol spectrum disorder 11.3
11 alcohol-related birth defect 11.2
12 newfoundland rod-cone dystrophy 11.2
13 ghose sachdev kumar syndrome 11.1
14 retinal dystrophy, reticular pigmentary, of posterior pole 11.0
15 fanconi anemia, complementation group d2 10.9
16 fanconi anemia, complementation group b 10.9
17 fanconi anemia, complementation group f 10.9
18 fanconi anemia, complementation group d1 10.9
19 fanconi anemia, complementation group i 10.9
20 fanconi anemia, complementation group j 10.9
21 fanconi anemia, complementation group n 10.9
22 fanconi anemia, complementation group o 10.9
23 fanconi anemia, complementation group g 10.9
24 fanconi anemia, complementation group l 10.9
25 dianzani autoimmune lymphoproliferative disease 10.9
26 otodental dysplasia 10.8
27 fanconi anemia, complementation group c 10.8
28 fanconi anemia, complementation group e 10.8
29 caspase 8 deficiency 10.8
30 fanconi anemia, complementation group p 10.8
31 fanconi anemia, complementation group q 10.8
32 stargardt macular degeneration 10.6 PRPH2 RHO
33 retinitis pigmentosa 1 10.5 PRPH2 RHO
34 retinitis pigmentosa 7 10.5 PRPH2 RHO
35 acute zonal occult outer retinopathy 10.4 RLBP1 SAG
36 melanoma-associated retinopathy 10.4 RHO SAG
37 prolonged electroretinal response suppression 10.4 PRPH2 RDH5
38 colorectal adenoma 10.4
39 lymphoma 10.4
40 yemenite deaf-blind hypopigmentation syndrome 10.3 RHO RPE65
41 pineocytoma 10.3 RHO SAG
42 red-green color blindness 10.3 RHO RPE65
43 leukemia 10.3
44 usher syndrome, type iid 10.3 GRK1 RHO
45 hepatitis 10.3
46 bardet-biedl syndrome 5 10.3 RHO SAG
47 cone dystrophy 10.3
48 cancer-associated retinopathy 10.3 RHO SAG
49 pineal parenchymal tumor of intermediate differentiation 10.2 RHO SAG
50 thyroiditis 10.2

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



Diseases related to Fundus Albipunctatus

Symptoms & Phenotypes for Fundus Albipunctatus

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

136880

Human phenotypes related to Fundus Albipunctatus:

32
# Description HPO Frequency HPO Source Accession
1 fundus albipunctatus 32 HP:0030642

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 PDE6B RBP3 RDH5 RHO RPE65 SAG

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 GNAT1 GRK1 PDE6B PRPH2 RBP3 RDH5

Drugs & Therapeutics for Fundus Albipunctatus

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Beta carotene Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 7235-40-7
2 Antioxidants Phase 2, Phase 3,Not Applicable
3 Carotenoids Phase 2, Phase 3,Not Applicable
4 Micronutrients Phase 2, Phase 3,Not Applicable
5 Protective Agents Phase 2, Phase 3,Not Applicable
6 Trace Elements Phase 2, Phase 3,Not Applicable
7 Vitamins Phase 2, Phase 3,Not Applicable

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 Recruiting NCT01680510 Phase 2, Phase 3
2 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023 Not Applicable
3 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions im Patients With Retinitis Pigmentosa Completed NCT01256697 Not Applicable
4 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

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

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 57)
# Title Authors Year
1
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. ( 28393863 )
2017
2
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. ( 27627638 )
2016
3
Fundus albipunctatus. ( 27217886 )
2016
4
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). ( 25820994 )
2015
5
RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION IN YOUNG CHINESE PATIENT. ( 25170858 )
2014
6
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. ( 24922193 )
2014
7
Cone Abnormalities in Fundus Albipunctatus Associated With RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy. ( 24246574 )
2013
8
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. ( 22669287 )
2012
9
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. ( 22736946 )
2012
10
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. ( 22815624 )
2012
11
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. ( 21211845 )
2011
12
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. ( 21447491 )
2011
13
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). ( 21529959 )
2011
14
Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens. ( 20450307 )
2010
15
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. ( 20829743 )
2010
16
Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene. ( 19955196 )
2010
17
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. ( 18949499 )
2009
18
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. ( 19433727 )
2009
19
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. ( 18363170 )
2008
20
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. ( 17476461 )
2007
21
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
22
[Fundus albipunctatus incidentally discovered in a black African man]. ( 16885819 )
2006
23
Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal. ( 17003450 )
2006
24
Disappearance of puncta after uveitis in an eye with fundus albipunctatus. ( 16340543 )
2005
25
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. ( 15790919 )
2005
26
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. ( 15302662 )
2004
27
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. ( 15007239 )
2004
28
Macular dystrophy in a Japanese family with fundus albipunctatus. ( 12788147 )
2003
29
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. ( 12967826 )
2003
30
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ( 12906118 )
2003
31
Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. ( 12860821 )
2003
32
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. ( 11812441 )
2002
33
Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus. ( 11418621 )
2001
34
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. ( 11675386 )
2001
35
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. ( 11470705 )
2001
36
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. ( 11453974 )
2001
37
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. ( 11448328 )
2001
38
A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. ( 10845614 )
2000
39
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. ( 11078833 )
2000
40
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. ( 11053295 )
2000
41
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. ( 11078852 )
2000
42
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. ( 11053296 )
2000
43
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. ( 10617778 )
1999
44
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ( 10369264 )
1999
45
Fundus albipunctatus and other flecked retina syndromes. ( 10547972 )
1999
46
Fundus albipunctatus-like lesions in juvenile retinoschisis. ( 7918299 )
1994
47
Fundus albipunctatus associated with cone dystrophy. ( 1622952 )
1992
48
Independent segregation of fundus albipunctatus and the transthyretin (prealbumin) gene. ( 1687707 )
1991
49
Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. ( 2336278 )
1990
50
Variable expressivity in fundus albipunctatus. ( 3500444 )
1987

Variations for Fundus Albipunctatus

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

75 (show all 18)
# 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
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 RLBP1 p.Arg151Gln VAR_005140 rs137853290
18 RLBP1 p.Met226Lys VAR_037317 rs137853291

ClinVar genetic disease variations for Fundus Albipunctatus:

6
(show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 RDH5 NM_002905.3(RDH5): c.712G> T (p.Gly238Trp) single nucleotide variant Pathogenic rs62638191 GRCh37 Chromosome 12, 56117812: 56117812
2 RDH5 NM_002905.3(RDH5): c.712G> T (p.Gly238Trp) single nucleotide variant Pathogenic rs62638191 GRCh38 Chromosome 12, 55724028: 55724028
3 RDH5 NM_002905.3(RDH5): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs62638193 GRCh37 Chromosome 12, 56118211: 56118211
4 RDH5 NM_002905.3(RDH5): c.839G> A (p.Arg280His) single nucleotide variant Pathogenic rs62638193 GRCh38 Chromosome 12, 55724427: 55724427
5 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
6 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh38 Chromosome 3, 129530917: 129530917
7 RLBP1 NM_000326.4(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 GRCh37 Chromosome 15, 89758364: 89758364
8 RLBP1 NM_000326.4(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 GRCh38 Chromosome 15, 89215133: 89215133
9 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic
10 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh37 Chromosome 15, 89754025: 89754025
11 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh38 Chromosome 15, 89210794: 89210794
12 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
13 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh38 Chromosome 15, 89211750: 89211750
14 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
15 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
16 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh37 Chromosome 15, 89761908: 89761908
17 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh38 Chromosome 15, 89218677: 89218677
18 RDH5 NM_002905.3(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 GRCh38 Chromosome 12, 55721469: 55721469
19 RDH5 NM_002905.3(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 GRCh37 Chromosome 12, 56115253: 56115253
20 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
21 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
22 RDH5 NM_002905.3(RDH5): c.97A> G (p.Ile33Val) single nucleotide variant Uncertain significance rs62638195 GRCh37 Chromosome 12, 56115065: 56115065
23 RDH5 NM_002905.3(RDH5): c.97A> G (p.Ile33Val) single nucleotide variant Uncertain significance rs62638195 GRCh38 Chromosome 12, 55721281: 55721281
24 RDH5 NM_002905.3(RDH5): c.423C> T (p.Ile141=) single nucleotide variant Likely benign rs3138142 GRCh38 Chromosome 12, 55721801: 55721801
25 RDH5 NM_002905.3(RDH5): c.423C> T (p.Ile141=) single nucleotide variant Likely benign rs3138142 GRCh37 Chromosome 12, 56115585: 56115585
26 RDH5 NM_002905.3(RDH5): c.600C> G (p.Val200=) single nucleotide variant Likely benign rs13193 GRCh37 Chromosome 12, 56117700: 56117700
27 RDH5 NM_002905.3(RDH5): c.600C> G (p.Val200=) single nucleotide variant Likely benign rs13193 GRCh38 Chromosome 12, 55723916: 55723916
28 RDH5 NM_002905.3(RDH5): c.814_815delCT (p.Leu272Aspfs) deletion Pathogenic rs765714290 GRCh37 Chromosome 12, 56118186: 56118187
29 RDH5 NM_002905.3(RDH5): c.814_815delCT (p.Leu272Aspfs) deletion Pathogenic rs765714290 GRCh38 Chromosome 12, 55724402: 55724403
30 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh37 Chromosome 15, 89755113: 89755113
31 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh38 Chromosome 15, 89211882: 89211882
32 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh37 Chromosome 15, 89760343: 89760348
33 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh38 Chromosome 15, 89217112: 89217117
34 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
35 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
36 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
37 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
38 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
39 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
40 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
41 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
42 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
43 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
44 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
45 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
46 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
47 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
48 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
49 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
50 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131

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 RDH5 RLBP1 RPE65
2 photoreceptor inner segment GO:0001917 9.33 GNAT1 RHO SAG
3 photoreceptor outer segment membrane GO:0042622 9.32 GNAT1 RHO
4 photoreceptor disc membrane GO:0097381 9.26 GNAT1 GRK1 PDE6B RHO
5 photoreceptor outer segment GO:0001750 9.02 CACNA1F GNAT1 PRPH2 RHO SAG

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

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 RDH5 SDR9C7
2 retinol binding GO:0019841 9.16 RBP3 RLBP1
3 retinal binding GO:0016918 8.96 RBP3 RLBP1
4 11-cis retinal binding GO:0005502 8.62 RHO RLBP1

Sources for Fundus Albipunctatus

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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