FALBI
MCID: FND001
MIFTS: 56

Fundus Albipunctatus (FALBI)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Fundus Albipunctatus

MalaCards integrated aliases for Fundus Albipunctatus:

Name: Fundus Albipunctatus 57 11 42 58 73 12 43 14 38 71 75
Retinitis Punctata Albescens 57 11 58 73 28 5 71
Pigmentary Retinal Dystrophy 11 42 28 5
Rpa 58 73
Albipunctate Retinal Dystrophy 42
Lauber's Disease 42
Falbi 73
Fa 73

Characteristics:


Inheritance:

Fundus Albipunctatus: Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57
Retinitis Punctata Albescens: Autosomal dominant,Autosomal recessive 58

Prevelance:

Retinitis Punctata Albescens: 1-9/1000000 (Worldwide, Europe) 58

Age Of Onset:

Fundus Albipunctatus: Childhood 58
Retinitis Punctata Albescens: Childhood 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:11105
OMIM® 57 136880
SNOMED-CT 68 68222009
ICD10 via Orphanet 32 H35.5
UMLS via Orphanet 72 C0311338 C1405854
UMLS 71 C0311338 C1405854

Summaries for Fundus Albipunctatus

MedlinePlus Genetics: 42 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 bothnia retinal dystrophy and newfoundland rod-cone dystrophy. An important gene associated with Fundus Albipunctatus is RDH5 (Retinol Dehydrogenase 5), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include retina and eye, and related phenotypes are progressive visual loss and yellow/white lesions of the retina

Orphanet 58 Fundus albipunctatus: Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

Retinitis punctata albescens: A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.

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.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 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 309)
# Related Disease Score Top Affiliating Genes
1 bothnia retinal dystrophy 32.8 RLBP1 RGR RDH5 RDH14 RDH11 LRAT
2 newfoundland rod-cone dystrophy 32.6 RLBP1 RDH5 PRPH2 LRAT
3 keratomalacia 31.6 RHO LRAT
4 progressive cone dystrophy 31.4 RPGR RDH5 PRPH2 ABCA4
5 retinitis 31.0 RPGR RPE65 ROM1 RLBP1 RHO PRPH2
6 night blindness 30.9 RPGR RPE65 RLBP1 RHO RDH5 RDH12
7 macular retinal edema 30.8 RPE65 RHO CRB1 ABCA4
8 retinal disease 30.8 RPGR RPE65 RLBP1 RHO PRPH2 CRB1
9 leber congenital amaurosis 2 30.8 RPGR RPE65 RHO RDH12 LRAT CRB1
10 peripheral retinal degeneration 30.7 RPGR RPE65 RLBP1 RHO ABCA4
11 nanophthalmos 30.7 RPGR RPE65 ROM1 RHO PRPH2 CRB1
12 oguchi disease 1 30.6 RHO GRK1
13 oguchi disease 30.6 RHO RDH5 GRK1
14 scotoma 30.5 RPGR RPE65 RHO PRPH2 ABCA4
15 cone dystrophy 30.5 RPGR RPE65 ROM1 RLBP1 RHO RGR
16 late-onset retinal degeneration 30.5 RPGR RPE65 ROM1 RLBP1 RHO PRPH2
17 color blindness 30.5 RPGR RPE65 RHO PRPH2 GRK1 EYS
18 myopia 30.4 RPGR RHO RDH5 RBP3 GRK1
19 refractive error 30.4 RPGR RPE65 RHO RDH5 CRB1 ABCA4
20 hereditary retinal dystrophy 30.4 RPE65 RLBP1 RHO PRPH2 EYS CRB1
21 achromatopsia 30.4 RPGR RPE65 RHO RDH12 PRPH2 GRK1
22 bardet-biedl syndrome 30.4 RPGR RPE65 ROM1 RHO RDH12 PRPH2
23 retinoschisis 1, x-linked, juvenile 30.2 RPGR RPE65 RLBP1 RHO PRPH2 GRK1
24 congenital stationary night blindness 30.2 RPGR RPE65 ROM1 RLBP1 RHO RGR
25 retinal degeneration 30.1 RPGR RPE65 ROM1 RLBP1 RHO RDH5
26 retinitis pigmentosa 30.0 SDR9C7 RPGR RPE65 ROM1 RLBP1 RHO
27 eye disease 29.8 RPGR RPE65 ROM1 RLBP1 RHO RDH5
28 macular degeneration, age-related, 1 29.8 RPGR RPE65 ROM1 RLBP1 RHO RDH5
29 cone-rod dystrophy 2 29.5 SDR9C7 RPGR RPE65 ROM1 RLBP1 RHO
30 leber plus disease 29.5 SDR9C7 RPGR RPE65 ROM1 RLBP1 RHO
31 fundus dystrophy 29.4 SDR9C7 RPGR RPE65 ROM1 RLBP1 RHO
32 ghose sachdev kumar syndrome 11.3
33 retinal dystrophy, reticular pigmentary, of posterior pole 11.1
34 night blindness, congenital stationary, autosomal dominant 2 10.5
35 ocular tuberculosis 10.4 RLBP1 RBP3
36 toxic maculopathy 10.4 PRPH2 ABCA4
37 xeroderma pigmentosum, variant type 10.4
38 retinal perforation 10.4 RPE65 RLBP1 RHO
39 isolated macular dystrophy 10.4 PRPH2 ABCA4
40 ataxia-telangiectasia 10.4
41 telangiectasis 10.4
42 vitreous disease 10.4 RPE65 RLBP1 RHO
43 retinitis pigmentosa 85 10.4 RPGR EYS
44 cone-rod dystrophy 12 10.4 RDH12 ABCA4
45 retinitis pigmentosa 35 10.4 RPGR RDH12
46 retinal cone dystrophy 4 10.4 ROM1 PRPH2
47 leber congenital amaurosis 14 10.4 RPE65 RDH12 LRAT
48 pseudoretinitis pigmentosa 10.4 ROM1 CRB1
49 severe early-childhood-onset retinal dystrophy 10.4 RPE65 LRAT ABCA4
50 red-green color blindness 10.4 RPGR RPE65 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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ABCA4 CRB1 EYS GRK1 LRAT PRPH2
2 no effect GR00402-S-2 10.11 ABCA4 CRB1 EYS GRK1 LRAT RBP3

MGI Mouse Phenotypes related to Fundus Albipunctatus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 ABCA4 CRB1 GRK1 LRAT PRPH2 RBP3
2 pigmentation MP:0001186 9.7 ABCA4 CRB1 PRPH2 RHO RLBP1 RPE65
3 vision/eye MP:0005391 9.53 ABCA4 CRB1 GRK1 LRAT PRPH2 RBP3

Drugs & Therapeutics for Fundus Albipunctatus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Foundation Fighting Blindness My Retina Tracker 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 28
2 Pigmentary Retinal Dystrophy 28 PRPH2 RDH5 RHO RLBP1

Anatomical Context for Fundus Albipunctatus

Organs/tissues related to Fundus Albipunctatus:

MalaCards : Retina, Eye

Publications for Fundus Albipunctatus

Articles related to Fundus Albipunctatus:

(show top 50) (show all 263)
# Title Authors PMID Year
1
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 62 57 5
10617778 1999
2
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 62 57 5
10369264 1999
3
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 62 57 5
8554077 1996
4
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. 62 5
22669287 2012
5
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). 62 5
21529959 2011
6
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. 62 5
20829743 2010
7
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. 62 57
15790919 2005
8
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 62 5
15302662 2004
9
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. 62 5
15007239 2004
10
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. 62 57
14718298 2004
11
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 62 5
11868161 2002
12
Macular dystrophy in a 9-year-old boy with fundus albipunctatus. 62 57
11812441 2002
13
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 62 5
11675386 2001
14
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. 62 5
11470705 2001
15
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 62 5
11453974 2001
16
Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. 62 5
11449319 2001
17
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. 62 5
11053295 2000
18
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. 62 5
11078852 2000
19
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. 62 57
11153648 2000
20
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 62 5
10102299 1999
21
Retinitis punctata albescens. A functional evaluation of an unusual case. 62 57
14459667 1962
22
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 5
21922596 2012
23
Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa. 5
21352497 2011
24
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 5
21077204 2010
25
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 5
20525296 2010
26
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 5
12966518 2003
27
Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain. 5
12660238 2003
28
Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. 5
10967073 2000
29
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 5
9326942 1997
30
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. 5
9197578 1997
31
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 5
8841304 1996
32
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). 5
1484692 1992
33
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. 5
1924344 1991
34
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. 5
1833777 1991
35
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. 5
1882937 1991
36
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 5
1862076 1991
37
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders. 62
36380535 2022
38
Molecular Mechanisms of Alu and LINE-1 Interspersed Repetitive Sequences Reveal Diseases of Visual System Dysfunction. 62
36040959 2022
39
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus. 62
35250012 2022
40
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. 62
35148716 2022
41
A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. 62
35433063 2022
42
A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium. 62
35042295 2022
43
Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina. 62
34668483 2021
44
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy. 62
36247817 2021
45
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia. 62
33369259 2021
46
Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. 62
34410188 2021
47
Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium. 62
34115091 2021
48
Fundus albipunctatus photoreceptor microstructure revealed using adaptive optics scanning light ophthalmoscopy. 62
33981912 2021
49
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens. 62
32345050 2021
50
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. 62
32533651 2021

Variations for Fundus Albipunctatus

ClinVar genetic disease variations for Fundus Albipunctatus:

5 (show top 50) (show all 210)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RLBP1 NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) SNV Pathogenic
Pathogenic
13097 rs137853290 GRCh37: 15:89758364-89758364
GRCh38: 15:89215133-89215133
2 RLBP1 NM_000326.5(RLBP1):c.141G>A (p.Lys47=) SNV Pathogenic
13099 GRCh37: 15:89761796-89761796
GRCh38: 15:89218565-89218565
3 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.285G>A (p.Trp95Ter) SNV Pathogenic
208608 rs774122562 GRCh37: 12:56115253-56115253
GRCh38: 12:55721469-55721469
4 RLBP1 NM_000326.5(RLBP1):c.79del (p.Thr27fs) DEL Pathogenic
635160 rs1567124404 GRCh37: 15:89761858-89761858
GRCh38: 15:89218627-89218627
5 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) SNV Pathogenic
635161 rs377029071 GRCh37: 12:56115544-56115544
GRCh38: 12:55721760-55721760
6 EYS NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter) INDEL Pathogenic
812316 rs1582930081 GRCh37: 6:65301398-65301399
GRCh38: 6:64591505-64591506
7 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.71_74del (p.Leu24fs) DEL Pathogenic
812391 rs776634113 GRCh37: 12:56115036-56115039
GRCh38: 12:55721252-55721255
8 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.412del (p.Met138fs) DEL Pathogenic
812392 rs1592521438 GRCh37: 12:56115573-56115573
GRCh38: 12:55721789-55721789
9 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.547G>T (p.Glu183Ter) SNV Pathogenic
812393 rs1592521712 GRCh37: 12:56115709-56115709
GRCh38: 12:55721925-55721925
10 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.718dup (p.Ala240fs) DUP Pathogenic
812394 rs753378940 GRCh37: 12:56117811-56117812
GRCh38: 12:55724027-55724028
11 RHO NM_000539.3(RHO):c.269G>A (p.Gly90Asp) SNV Pathogenic
13045 rs104893790 GRCh37: 3:129247845-129247845
GRCh38: 3:129529002-129529002
12 PRPH2 NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter) SNV Pathogenic
931938 rs759752477 GRCh37: 6:42689575-42689575
GRCh38: 6:42721837-42721837
13 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic
523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
14 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.625del (p.Arg209fs) DEL Pathogenic
1323522 GRCh37: 12:56117724-56117724
GRCh38: 12:55723940-55723940
15 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) SNV Pathogenic
279881 rs769035379 GRCh37: 12:56115128-56115128
GRCh38: 12:55721344-55721344
16 RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) SNV Pathogenic
13101 rs137853291 GRCh37: 15:89754981-89754981
GRCh38: 15:89211750-89211750
17 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.839G>A (p.Arg280His) SNV Pathogenic
8005 rs62638193 GRCh37: 12:56118211-56118211
GRCh38: 12:55724427-55724427
18 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.469C>T (p.Arg157Trp) SNV Pathogenic
8010 rs104894374 GRCh37: 12:56115631-56115631
GRCh38: 12:55721847-55721847
19 PRPH2 NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) SNV Pathogenic
437965 rs139185976 GRCh37: 6:42672308-42672308
GRCh38: 6:42704570-42704570
20 RHO NM_000539.3(RHO):c.266G>A (p.Gly89Asp) SNV Pathogenic
13021 rs104893772 GRCh37: 3:129247842-129247842
GRCh38: 3:129528999-129528999
21 PRPH2 NM_000322.5(PRPH2):c.2T>G (p.Met1Arg) SNV Pathogenic
1686100 GRCh37: 6:42690071-42690071
GRCh38: 6:42722333-42722333
22 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp) SNV Pathogenic
13028 rs104893775 GRCh37: 3:129249760-129249760
GRCh38: 3:129530917-129530917
23 PRPH2 NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs) DEL Pathogenic
98683 rs281865372 GRCh37: 6:42672306-42672322
GRCh38: 6:42704568-42704584
24 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) SNV Pathogenic
8003 rs62638191 GRCh37: 12:56117812-56117812
GRCh38: 12:55724028-55724028
25 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.572G>A (p.Arg191Gln) SNV Pathogenic
425006 rs367757406 GRCh37: 12:56117672-56117672
GRCh38: 12:55723888-55723888
26 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV Pathogenic
13100 rs28933990 GRCh37: 15:89754025-89754025
GRCh38: 15:89210794-89210794
27 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic
13013 rs104893768 GRCh37: 3:129247644-129247644
GRCh38: 3:129528801-129528801
28 RLBP1 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) DEL Pathogenic
191289 rs786205626 GRCh37: 15:89760400-89760411
GRCh38: 15:89217169-89217180
29 PRPH2 NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) SNV Likely Pathogenic
98671 rs61755787 GRCh37: 6:42689604-42689604
GRCh38: 6:42721866-42721866
30 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.394G>A (p.Val132Met) SNV Likely Pathogenic
1687569 GRCh37: 12:56115556-56115556
GRCh38: 12:55721772-55721772
31 PRPH2 NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) SNV Likely Pathogenic
1685416 GRCh37: 6:42689538-42689538
GRCh38: 6:42721800-42721800
32 RHO NM_000539.3(RHO):c.551A>G (p.Gln184Arg) SNV Likely Pathogenic
867026 rs1402468701 GRCh37: 3:129251114-129251114
GRCh38: 3:129532271-129532271
33 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.880G>C (p.Ala294Pro) SNV Likely Pathogenic
8006 rs111033593 GRCh37: 12:56118252-56118252
GRCh38: 12:55724468-55724468
34 RLBP1 NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) SNV Likely Pathogenic
812398 rs138965708 GRCh37: 15:89755056-89755056
GRCh38: 15:89211825-89211825
35 RLBP1 NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) SNV Likely Pathogenic
829822 rs151141842 GRCh37: 15:89753972-89753972
GRCh38: 15:89210741-89210741
36 RHO NM_000539.3(RHO):c.759G>T (p.Met253Ile) SNV Likely Pathogenic
594435 rs756658659 GRCh37: 3:129251438-129251438
GRCh38: 3:129532595-129532595
37 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) SNV Likely Pathogenic
636196 rs1058635 GRCh37: 12:56115176-56115176
GRCh38: 12:55721392-55721392
38 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.-33+2dup DUP Likely Pathogenic
623474 rs1565653781 GRCh37: 12:56114302-56114303
GRCh38: 12:55720518-55720519
39 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.711dup (p.Gly238fs) DUP Likely Pathogenic
1324999 GRCh37: 12:56117810-56117811
GRCh38: 12:55724026-55724027
40 PRPH2 NM_000322.5(PRPH2):c.793dup (p.Met265fs) DUP Likely Pathogenic
932046 rs1800110234 GRCh37: 6:42672137-42672138
GRCh38: 6:42704399-42704400
41 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.248dup (p.Thr84fs) DUP Likely Pathogenic
930528 rs1876913255 GRCh37: 12:56115215-56115216
GRCh38: 12:55721431-55721432
42 RHO NM_000539.3(RHO):c.260T>A (p.Val87Asp) SNV Likely Pathogenic
13020 rs104893771 GRCh37: 3:129247836-129247836
GRCh38: 3:129528993-129528993
43 RLBP1 NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) SNV Uncertain Significance
317240 rs143121722 GRCh37: 15:89760393-89760393
GRCh38: 15:89217162-89217162
44 RHO NM_000539.3(RHO):c.892G>A (p.Ala298Thr) SNV Uncertain Significance
932140 rs781237162 GRCh37: 3:129251571-129251571
GRCh38: 3:129532728-129532728
45 RLBP1 NM_000326.5(RLBP1):c.-223-1G>A SNV Uncertain Significance
1301830 GRCh37: 15:89763091-89763091
GRCh38: 15:89219860-89219860
46 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.793A>G (p.Ser265Gly) SNV Uncertain Significance
309816 rs771063598 GRCh37: 12:56118165-56118165
GRCh38: 12:55724381-55724381
47 RLBP1 NM_000326.5(RLBP1):c.-199T>C SNV Uncertain Significance
317249 rs117263224 GRCh37: 15:89763066-89763066
GRCh38: 15:89219835-89219835
48 RLBP1 NM_000326.5(RLBP1):c.-233G>A SNV Uncertain Significance
317250 rs886051504 GRCh37: 15:89764775-89764775
GRCh38: 15:89221544-89221544
49 BLOC1S1-RDH5, RDH5 NM_002905.5(RDH5):c.-152G>A SNV Uncertain Significance
309808 rs886049672 GRCh37: 12:56114182-56114182
GRCh38: 12:55720398-55720398
50 RLBP1 NM_000326.5(RLBP1):c.*334T>C SNV Uncertain Significance
317226 rs886051500 GRCh37: 15:89753182-89753182
GRCh38: 15:89209951-89209951

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
13.33 SDR9C7 RPE65 RLBP1 RHO RDH5 RDH12
2
Show member pathways
11.94 SDR9C7 RPE65 RLBP1 RHO RDH5 RDH12
3 11.87 RPE65 RLBP1 RHO RDH5 RDH14 RDH12
4
Show member pathways
11.55 RDH5 RDH14 RDH11 RDH10
5
Show member pathways
11.53 SDR9C7 RPE65 RLBP1 RHO RDH5 RDH12
6
Show member pathways
11.45 LRAT RDH11 RDH12 RDH14 RDH5 RHO
7 11.42 RPE65 RLBP1 RDH5 RDH12 RDH10 LRAT
8 11.13 RPE65 RDH5 RDH12 LRAT GRK1
9 10.89 RPE65 RDH12 LRAT
10 10.52 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 body GO:0044297 9.88 RPE65 RLBP1 RDH5
2 cell projection GO:0042995 9.76 ABCA4 CRB1 EYS GRK1 PRPH2 RHO
3 photoreceptor disc membrane GO:0097381 9.73 RHO GRK1 ABCA4
4 photoreceptor inner segment GO:0001917 9.65 RHO RDH12 RDH11 PRPH2 CRB1
5 photoreceptor inner segment membrane GO:0060342 9.62 RHO RDH12
6 interphotoreceptor matrix GO:0033165 9.54 RBP3 EYS
7 photoreceptor outer segment GO:0001750 9.53 RPGR ROM1 RHO RGR PRPH2 GRK1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 10.16 LRAT RDH10 RDH11 RDH12 RDH14 RDH5
2 visual perception GO:0007601 10.16 RHO RGR RDH5 RDH12 RDH11 RDH10
3 lipid metabolic process GO:0006629 10.11 LRAT RBP3 RDH10 RDH11 RDH12 RDH14
4 photoreceptor cell maintenance GO:0045494 10.08 RHO RDH12 CRB1 ABCA4
5 response to stimulus GO:0050896 10.06 RPGR RPE65 ROM1 RLBP1 RHO RGR
6 detection of light stimulus involved in visual perception GO:0050908 10.02 RPE65 ROM1 PRPH2 EYS CRB1
7 cellular response to light stimulus GO:0071482 10 RHO RGR CRB1
8 photoreceptor cell outer segment organization GO:0035845 9.99 CRB1 PRPH2 ROM1
9 retinal metabolic process GO:0042574 9.97 ABCA4 RDH10 RDH11 RPE65
10 retina development in camera-type eye GO:0060041 9.95 RPE65 ROM1 RHO PRPH2 CRB1
11 vitamin A metabolic process GO:0006776 9.91 RPE65 RLBP1 LRAT
12 protein heterooligomerization GO:0051291 9.87 ROM1 PRPH2
13 phototransduction, visible light GO:0007603 9.86 RHO ABCA4
14 cellular detoxification of aldehyde GO:0110095 9.85 RDH12 RDH11
15 rhodopsin mediated signaling pathway GO:0016056 9.84 RHO GRK1
16 retina morphogenesis in camera-type eye GO:0060042 9.8 RPE65 ROM1 CRB1
17 retinoid metabolic process GO:0001523 9.53 ABCA4 LRAT RBP3 RDH10 RDH11 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 10.01 SDR9C7 RDH5 RDH14 RDH12 RDH11 RDH10
2 retinol binding GO:0019841 9.85 RLBP1 RBP3 LRAT
3 retinoid binding GO:0005501 9.73 RBP3 ABCA4
4 11-cis retinal binding GO:0005502 9.73 ABCA4 RHO RLBP1
5 retinal binding GO:0016918 9.65 RLBP1 RBP3
6 11-cis-retinol dehydrogenase activity GO:0102354 9.63 RDH14 RDH12 RDH11
7 NADP-retinol dehydrogenase activity GO:0052650 9.56 RDH14 RDH12 RDH11 RDH10
8 steroid dehydrogenase activity GO:0016229 9.5 SDR9C7 RDH5 RDH14
9 photoreceptor activity GO:0009881 9.46 RHO RGR
10 NAD-retinol dehydrogenase activity GO:0004745 9.32 SDR9C7 RDH5 RDH12 RDH11 RDH10

Sources for Fundus Albipunctatus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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