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 56 12 58 73 29 13 6 15 71
Vasterbotten Dystrophy 56 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:

56
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 56 607475
MeSH 43 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 rubella. 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 34)
# Related Disease Score Top Affiliating Genes
1 nut midline carcinoma 11.6
2 rubella 10.3
3 myeloma, multiple 10.3
4 cone dystrophy 10.1 RLBP1 RDH5
5 arteries, anomalies of 10.1
6 hyperlipoproteinemia, type iii 10.1
7 helix syndrome 10.1
8 lipoprotein quantitative trait locus 10.1
9 pulmonary hypertension 10.1
10 mastitis 10.1
11 neutropenia 10.1
12 diarrhea 10.1
13 cholera 10.1
14 hyperglycemia 10.1
15 measles 10.1
16 rapidly involuting congenital hemangioma 10.1
17 arthrogryposis, distal, type 10 10.1 RGR RDH5
18 degeneration of macula and posterior pole 9.9 RLBP1 RDH8
19 leber congenital amaurosis 2 9.9 RDH5 LRAT
20 cone-rod dystrophy 6 9.7 RDH5 LRAT
21 night blindness 9.7 RLBP1 RDH5 LRAT
22 newfoundland rod-cone dystrophy 9.7 RLBP1 RDH5 LRAT
23 usher syndrome, type iiia 9.7 RLBP1 LRAT
24 eye degenerative disease 9.5 RLBP1 LRAT
25 retinal degeneration 9.5 RLBP1 RDH5 LRAT
26 retinal disease 9.4 RLBP1 RGR RDH5 LRAT
27 inherited retinal disorder 9.3 RLBP1 RGR RDH5 LRAT
28 macular degeneration, age-related, 1 9.3 RLBP1 RDH8 RDH5 LRAT
29 congenital stationary night blindness 9.0 RLBP1 RGR RDH8 RDH5 LRAT
30 retinitis pigmentosa 8.9 RLBP1 RGR RDH8 RDH5 LRAT
31 stargardt disease 8.6 SDR9C7 RLBP1 RGR RDH8 RDH5 LRAT
32 leber plus disease 8.6 SDR9C7 RLBP1 RGR RDH8 RDH5 LRAT
33 fundus albipunctatus 8.0 SDR9C7 RLBP1 RGR RDH8 RDH5 RDH14
34 fundus dystrophy 8.0 SDR9C7 RLBP1 RGR RDH8 RDH5 RDH14

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:

56
Head And Neck Eyes:
macular degeneration
night blindness
abnormal erg
retinitis punctata albescens

Clinical features from OMIM:

607475

MGI Mouse Phenotypes related to Bothnia Retinal Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 LRAT 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. 6 56
11449319 2001
2
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. 56
11176989 2001
3
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 56
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
13.61 SDR9C7 RLBP1 RGR RDH8 RDH5 RDH14
2
Show member pathways
12.35 RDH8 RDH5 RDH14 LRAT
3
Show member pathways
11.99 SDR9C7 RLBP1 RDH8 RDH5 LRAT
4 11.33 RLBP1 RDH8 RDH5 RDH14 LRAT
5
Show member pathways
11.22 RDH5 RDH14
6 11.1 RLBP1 RDH8 RDH5 LRAT
7
Show member pathways
10.76 SDR9C7 RLBP1 RDH8 RDH5 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 8.62 RLBP1 RDH5

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 SDR9C7 RDH8 RDH5 RDH14
2 response to stimulus GO:0050896 9.55 RLBP1 RGR RDH8 RDH5 LRAT
3 retinoid metabolic process GO:0001523 9.43 RLBP1 RDH5 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 8.92 RDH8 RDH5 RDH14 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 SDR9C7 RDH8 RDH5 RDH14
2 O-acyltransferase activity GO:0008374 9.32 PLAAT1 LRAT
3 retinol binding GO:0019841 9.16 RLBP1 LRAT
4 NADP-retinol dehydrogenase activity GO:0052650 8.96 RDH8 RDH14
5 retinol dehydrogenase activity GO:0004745 8.8 SDR9C7 RDH8 RDH5

Sources for Bothnia Retinal Dystrophy

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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