FALBI
MCID: FND001
MIFTS: 56

Fundus Albipunctatus (FALBI)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 58 12 26 60 76 13 45 15 74
Retinitis Punctata Albescens 58 12 60 76 30 6 74
Pigmentary Retinal Dystrophy 12 26 30 6
Albipunctate Retinal Dystrophy 26
Fundus Albipunctatus ) 41
Lauber's Disease 26
Falbi 76
Rpa 76
Fa 76

Characteristics:

Orphanet epidemiological data:

60
fundus albipunctatus
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood;
retinitis punctata albescens
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant


HPO:

33

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11105
OMIM 58 136880
ICD9CM 36 362.74
SNOMED-CT 69 68222009
ICD10 34 H35.52
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0311338 C1405854
SNOMED-CT via HPO 70 258211005 263681008

Summaries for Fundus Albipunctatus

UniProtKB/Swiss-Prot : 76 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 autoimmune uveitis. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. 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

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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

Wikipedia : 77 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 659)
# Related Disease Score Top Affiliating Genes
1 retinitis 30.9 PRPH2 RHO RLBP1
2 autoimmune uveitis 29.5 RBP3 RLBP1 SAG
3 chorioretinitis 29.4 RBP3 SAG
4 posterior uveitis 29.2 RBP3 SAG
5 retinal degeneration 29.2 SAG RPE65 RLBP1 RHO PRPH2 PDE6B
6 night blindness 28.3 SAG RPE65 RHO RDH5 PDE6B GRK1
7 fundus dystrophy 27.9 SDR9C7 RPE65 RLBP1 RHO RDH5 RBP3
8 retinitis pigmentosa 27.3 CACNA1F GNAT1 GRK1 PDE6B PRPH2 RBP3
9 fanconi anemia, complementation group a 12.2
10 friedreich ataxia 1 12.0
11 autoimmune lymphoproliferative syndrome 11.9
12 fetal alcohol syndrome 11.9
13 ghose sachdev kumar syndrome 11.6
14 bothnia retinal dystrophy 11.6
15 fetal alcohol spectrum disorder 11.5
16 newfoundland rod-cone dystrophy 11.4
17 retinal dystrophy, reticular pigmentary, of posterior pole 11.1
18 fanconi anemia, complementation group d2 11.1
19 fanconi anemia, complementation group b 11.1
20 fanconi anemia, complementation group f 11.1
21 fanconi anemia, complementation group d1 11.1
22 fanconi anemia, complementation group i 11.1
23 fanconi anemia, complementation group j 11.1
24 fanconi anemia, complementation group n 11.1
25 fanconi anemia, complementation group o 11.1
26 fanconi anemia, complementation group g 11.1
27 fanconi anemia, complementation group l 11.1
28 dianzani autoimmune lymphoproliferative disease 11.1
29 otodental dysplasia 10.9
30 fanconi anemia, complementation group c 10.9
31 fanconi anemia, complementation group e 10.9
32 caspase 8 deficiency 10.9
33 fanconi anemia, complementation group p 10.9
34 fanconi anemia, complementation group q 10.9
35 colorectal adenoma 10.5
36 leukemia 10.5
37 cone dystrophy 10.5
38 lymphoma 10.5
39 hepatitis 10.5
40 lymphoproliferative syndrome 10.4
41 melanoma 10.4
42 squamous cell carcinoma 10.3
43 breast cancer 10.3
44 systemic lupus erythematosus 10.3
45 hepatocellular carcinoma 10.3
46 glioma 10.3
47 stargardt macular degeneration 10.3 PRPH2 RHO
48 lung cancer 10.3
49 arthritis 10.3
50 retinitis pigmentosa 1 10.3 PRPH2 RHO

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:

33
# Description HPO Frequency HPO Source Accession
1 fundus albipunctatus 33 HP:0030642

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# 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 2, Phase 3,Not Applicable 7235-40-7
2 Antioxidants Phase 2, Phase 3,Not Applicable
3 Nutrients Phase 2, Phase 3,Not Applicable
4 Trace Elements Phase 2, Phase 3,Not Applicable
5 Vitamins Phase 2, Phase 3,Not Applicable
6 Micronutrients Phase 2, Phase 3,Not Applicable
7 Provitamins Phase 2, Phase 3,Not Applicable
8 Carotenoids Phase 2, Phase 3,Not Applicable
9 Protective Agents 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 30
2 Pigmentary Retinal Dystrophy 30 PRPH2 RDH5 RHO RLBP1

Anatomical Context for Fundus Albipunctatus

MalaCards organs/tissues related to Fundus Albipunctatus:

42
Retina, Eye

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 81)
# Title Authors Year
1
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. ( 28393863 )
2017
2
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. ( 28764803 )
2017
3
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION. ( 27627638 )
2016
4
Fundus albipunctatus. ( 27217886 )
2016
5
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). ( 25820994 )
2015
6
RDH5 RETINOPATHY (FUNDUS ALBIPUNCTATUS) WITH PRESERVED ROD FUNCTION IN YOUNG CHINESE PATIENT. ( 25170858 )
2014
7
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus. ( 24922193 )
2014
8
Cone Abnormalities in Fundus Albipunctatus Associated With RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy. ( 24246574 )
2013
9
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. ( 22669287 )
2012
10
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. ( 22736946 )
2012
11
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients. ( 22815624 )
2012
12
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. ( 21211845 )
2011
13
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. ( 21447491 )
2011
14
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). ( 21529959 )
2011
15
Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens. ( 20450307 )
2010
16
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. ( 20829743 )
2010
17
Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene. ( 19955196 )
2010
18
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. ( 18949499 )
2009
19
High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. ( 19433727 )
2009
20
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa. ( 18363170 )
2008
21
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. ( 17476461 )
2007
22
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
23
[Fundus albipunctatus incidentally discovered in a black African man]. ( 16885819 )
2006
24
Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal. ( 17003450 )
2006
25
Disappearance of puncta after uveitis in an eye with fundus albipunctatus. ( 16340543 )
2005
26
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. ( 15790919 )
2005
27
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. ( 15302662 )
2004
28
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. ( 15007239 )
2004
29
Macular dystrophy in a Japanese family with fundus albipunctatus. ( 12788147 )
2003
30
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. ( 12967826 )
2003
31
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ( 12906118 )
2003
32
Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. ( 12860821 )
2003
33
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. ( 11812441 )
2002
34
Application of a laser flare-cell meter to examine blood-aqueous barrier function in a patient with retinitis punctata albescens. ( 12645198 )
2002
35
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
36
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. ( 11675386 )
2001
37
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. ( 11470705 )
2001
38
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. ( 11453974 )
2001
39
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. ( 11448328 )
2001
40
A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. ( 10845614 )
2000
41
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. ( 11053295 )
2000
42
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. ( 11078852 )
2000
43
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. ( 11053296 )
2000
44
Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. ( 10967077 )
2000
45
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. ( 10617778 )
1999
46
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ( 10369264 )
1999
47
Fundus albipunctatus and other flecked retina syndromes. ( 10547972 )
1999
48
Familial occurrence of retinitis punctata albescens and congenital sensorineural deafness. ( 10458190 )
1999
49
Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. ( 9070228 )
1997
50
Fundus albipunctatus-like lesions in juvenile retinoschisis. ( 7918299 )
1994

Variations for Fundus Albipunctatus

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

76 (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 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 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 213)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
2 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
3 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh37 Chromosome 15, 89761908: 89761908
4 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh38 Chromosome 15, 89218677: 89218677
5 RDH5 NM_002905.3(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 GRCh38 Chromosome 12, 55721469: 55721469
6 RDH5 NM_002905.3(RDH5): c.285G> A (p.Trp95Ter) single nucleotide variant Pathogenic rs774122562 GRCh37 Chromosome 12, 56115253: 56115253
7 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
8 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh38 Chromosome 3, 129530917: 129530917
9 RLBP1 NM_000326.4(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 GRCh37 Chromosome 15, 89758364: 89758364
10 RLBP1 NM_000326.4(RLBP1): c.452G> A (p.Arg151Gln) single nucleotide variant Pathogenic rs137853290 GRCh38 Chromosome 15, 89215133: 89215133
11 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic
12 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh37 Chromosome 15, 89754025: 89754025
13 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh38 Chromosome 15, 89210794: 89210794
14 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
15 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh38 Chromosome 15, 89211750: 89211750
16 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh37 Chromosome 6, 42689755: 42689755
17 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh38 Chromosome 6, 42722017: 42722017
18 RLBP1 NM_000326.4(RLBP1): c.303C> T (p.Arg101=) single nucleotide variant Conflicting interpretations of pathogenicity rs144254383 GRCh37 Chromosome 15, 89760394: 89760394
19 RLBP1 NM_000326.4(RLBP1): c.303C> T (p.Arg101=) single nucleotide variant Conflicting interpretations of pathogenicity rs144254383 GRCh38 Chromosome 15, 89217163: 89217163
20 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh37 Chromosome 6, 42666136: 42666136
21 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh38 Chromosome 6, 42698398: 42698398
22 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh38 Chromosome 6, 42698426: 42698426
23 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh37 Chromosome 6, 42666164: 42666164
24 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh37 Chromosome 6, 42666145: 42666145
25 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh38 Chromosome 6, 42698407: 42698407
26 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh37 Chromosome 6, 42666061: 42666061
27 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh38 Chromosome 6, 42698323: 42698323
28 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh37 Chromosome 6, 42690083: 42690083
29 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh38 Chromosome 6, 42722345: 42722345
30 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
31 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
32 RDH5 NM_002905.3(RDH5): c.97A> G (p.Ile33Val) single nucleotide variant Conflicting interpretations of pathogenicity rs62638195 GRCh37 Chromosome 12, 56115065: 56115065
33 RDH5 NM_002905.3(RDH5): c.97A> G (p.Ile33Val) single nucleotide variant Conflicting interpretations of pathogenicity rs62638195 GRCh38 Chromosome 12, 55721281: 55721281
34 RDH5 NM_002905.3(RDH5): c.423C> T (p.Ile141=) single nucleotide variant Benign/Likely benign rs3138142 GRCh38 Chromosome 12, 55721801: 55721801
35 RDH5 NM_002905.3(RDH5): c.423C> T (p.Ile141=) single nucleotide variant Benign/Likely benign rs3138142 GRCh37 Chromosome 12, 56115585: 56115585
36 RDH5 NM_002905.3(RDH5): c.600C> G (p.Val200=) single nucleotide variant Benign/Likely benign rs13193 GRCh37 Chromosome 12, 56117700: 56117700
37 RDH5 NM_002905.3(RDH5): c.600C> G (p.Val200=) single nucleotide variant Benign/Likely benign rs13193 GRCh38 Chromosome 12, 55723916: 55723916
38 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh37 Chromosome 15, 89755113: 89755113
39 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh38 Chromosome 15, 89211882: 89211882
40 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh37 Chromosome 15, 89760343: 89760348
41 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh38 Chromosome 15, 89217112: 89217117
42 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
43 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
44 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
45 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
46 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
47 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
48 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
49 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
50 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271

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 phototransduction GO:0007602 9.54 GNAT1 RHO
9 retinol metabolic process GO:0042572 9.52 RDH5 RPE65
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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