BRD
MCID: BTH002
MIFTS: 35

Bothnia Retinal Dystrophy (BRD)

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

Aliases & Classifications for Bothnia Retinal Dystrophy

MalaCards integrated aliases for Bothnia Retinal Dystrophy:

Name: Bothnia Retinal Dystrophy 57 12 58 73 29 13 6 15 71
Vasterbotten Dystrophy 57 12 58 73
Dystrophy, Retinal, Bothnia 39
Brd 73

Characteristics:

Orphanet epidemiological data:

58
bothnia retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
night blindness from early childhood
retinitis punctata albescens and macular degeneration starting in late childhood to early teens
allelic to retinitis punctata albescens , fundus albipunctatus , autosomal recessive retinitis pigmentosa , newfoundland rod-cone dystrophy


HPO:

31
bothnia retinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050683
OMIM® 57 607475
MeSH 44 D058499
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1843816
Orphanet 58 ORPHA85128
MedGen 41 C1843816
UMLS 71 C1843816

Summaries for Bothnia Retinal Dystrophy

UniProtKB/Swiss-Prot : 73 Bothnia retinal dystrophy: A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.

MalaCards based summary : Bothnia Retinal Dystrophy, also known as vasterbotten dystrophy, is related to nut midline carcinoma and disease by infectious agent. An important gene associated with Bothnia Retinal Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1), and among its related pathways/superpathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Affiliated tissues include eye and retina, and related phenotypes are abnormal electroretinogram and nyctalopia

Disease Ontology : 12 A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has material basis in mutation in RLBP1 gene.

More information from OMIM: 607475

Related Diseases for Bothnia Retinal Dystrophy

Diseases related to Bothnia Retinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 nut midline carcinoma 11.0
2 disease by infectious agent 10.2
3 rubella 10.2
4 myeloma, multiple 10.0
5 influenza 10.0
6 gyrate atrophy of choroid and retina 10.0 RLBP1 LRAT
7 usher syndrome, type iiia 9.9 RLBP1 LRAT
8 night blindness 9.9 RLBP1 RDH5 LRAT
9 arteries, anomalies of 9.9
10 kaposi sarcoma 9.9
11 helix syndrome 9.9
12 lipoprotein quantitative trait locus 9.9
13 pulmonary hypertension 9.9
14 mastitis 9.9
15 sarcoma 9.9
16 neutropenia 9.9
17 cholera 9.9
18 thrombocytopenia 9.9
19 melanoma 9.9
20 hyperglycemia 9.9
21 spindle cell sarcoma 9.9
22 measles 9.9
23 rapidly involuting congenital hemangioma 9.9
24 newfoundland rod-cone dystrophy 9.9 RLBP1 RDH5 LRAT
25 leber congenital amaurosis 2 9.8 RLBP1 RDH5 LRAT
26 eye degenerative disease 9.8 RLBP1 LRAT
27 retinal degeneration 9.7 RLBP1 RDH5 LRAT
28 cone dystrophy 9.6 RLBP1 RGR RDH5 LRAT
29 retinal disease 9.6 RLBP1 RGR RDH5 LRAT
30 congenital stationary night blindness 9.3 RLBP1 RGR RDH8 RDH5 LRAT
31 macular degeneration, age-related, 1 9.3 RLBP1 RGR RDH8 RDH5 LRAT
32 microphthalmia, syndromic 9 9.2 RGR RDH8 RDH5 RDH11 LRAT
33 stargardt disease 9.0 RLBP1 RGR RDH8 RDH5 RDH11 LRAT
34 retinitis pigmentosa 8.9 RLBP1 RGR RDH8 RDH5 RDH11 LRAT
35 fundus albipunctatus 8.6 RLBP1 RGR RDH8 RDH5 RDH14 RDH11
36 leber plus disease 8.6 RLBP1 RGR RDH8 RDH5 RDH14 RDH11
37 fundus dystrophy 8.6 RLBP1 RGR RDH8 RDH5 RDH14 RDH11

Graphical network of the top 20 diseases related to Bothnia Retinal Dystrophy:



Diseases related to Bothnia Retinal Dystrophy

Symptoms & Phenotypes for Bothnia Retinal Dystrophy

Human phenotypes related to Bothnia Retinal Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 31 HP:0000512
2 nyctalopia 31 HP:0000662
3 retinal dystrophy 31 HP:0000556
4 macular degeneration 31 HP:0000608

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
macular degeneration
night blindness
abnormal erg
retinitis punctata albescens

Clinical features from OMIM®:

607475 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Bothnia Retinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 LRAT RDH11 RDH5 RDH8 RGR RLBP1

Drugs & Therapeutics for Bothnia Retinal Dystrophy

Search Clinical Trials , NIH Clinical Center for Bothnia Retinal Dystrophy

Genetic Tests for Bothnia Retinal Dystrophy

Genetic tests related to Bothnia Retinal Dystrophy:

# Genetic test Affiliating Genes
1 Bothnia Retinal Dystrophy 29 RLBP1

Anatomical Context for Bothnia Retinal Dystrophy

MalaCards organs/tissues related to Bothnia Retinal Dystrophy:

40
Eye, Retina

Publications for Bothnia Retinal Dystrophy

Articles related to Bothnia Retinal Dystrophy:

# Title Authors PMID Year
1
Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. 57 6
11449319 2001
2
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. 57
11176989 2001
3
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 57
10102298 1999
4
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 6
10102299 1999

Variations for Bothnia Retinal Dystrophy

ClinVar genetic disease variations for Bothnia Retinal Dystrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV Pathogenic 13100 rs28933990 15:89754025-89754025 15:89210794-89210794
2 RLBP1 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) Deletion Likely pathogenic 191289 rs786205626 15:89760400-89760411 15:89217169-89217180

UniProtKB/Swiss-Prot genetic disease variations for Bothnia Retinal Dystrophy:

73
# Symbol AA change Variation ID SNP ID
1 RLBP1 p.Arg234Trp VAR_015172 rs28933990

Expression for Bothnia Retinal Dystrophy

Search GEO for disease gene expression data for Bothnia Retinal Dystrophy.

Pathways for Bothnia Retinal Dystrophy

Pathways related to Bothnia Retinal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 RLBP1 RGR RDH8 RDH5 RDH14 RDH11
2
Show member pathways
12.45 RDH8 RDH5 RDH14 RDH11 LRAT
3
Show member pathways
11.99 RLBP1 RDH8 RDH5 RDH11 LRAT
4
Show member pathways
11.36 RDH5 RDH14 RDH11
5 11.1 RLBP1 RDH8 RDH5 LRAT
6
Show member pathways
11.09 RLBP1 RDH8 RDH5 RDH11 LRAT
7 11.07 RLBP1 RDH8 RDH5 RDH14 RDH11 LRAT

GO Terms for Bothnia Retinal Dystrophy

Cellular components related to Bothnia Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.96 RLBP1 RDH5
2 endoplasmic reticulum membrane GO:0005789 8.92 RDH5 RDH14 RDH11 LRAT

Biological processes related to Bothnia Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 RDH8 RDH5 RDH14 RDH11
2 response to stimulus GO:0050896 9.65 RLBP1 RGR RDH8 RDH5 LRAT
3 retinoid metabolic process GO:0001523 9.46 RLBP1 RDH5 RDH11 LRAT
4 visual perception GO:0007601 9.35 RLBP1 RGR RDH8 RDH5 LRAT
5 vitamin A metabolic process GO:0006776 9.32 RLBP1 LRAT
6 retinol metabolic process GO:0042572 9.02 RDH8 RDH5 RDH14 RDH11 LRAT

Molecular functions related to Bothnia Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 RDH8 RDH5 RDH14 RDH11
2 O-acyltransferase activity GO:0008374 9.32 PLAAT1 LRAT
3 retinol binding GO:0019841 9.16 RLBP1 LRAT
4 retinol dehydrogenase activity GO:0004745 9.13 RDH8 RDH5 RDH11
5 NADP-retinol dehydrogenase activity GO:0052650 8.8 RDH8 RDH14 RDH11

Sources for Bothnia Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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