BRD
MCID: BTH002
MIFTS: 21

Bothnia Retinal Dystrophy (BRD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bothnia Retinal Dystrophy

MalaCards integrated aliases for Bothnia Retinal Dystrophy:

Name: Bothnia Retinal Dystrophy 58 12 60 76 30 13 6 74
Vasterbotten Dystrophy 58 12 76
Dystrophy, Retinal, Bothnia 41
Västerbotten Dystrophy 60
Brd 76

Characteristics:

Orphanet epidemiological data:

60
bothnia retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
bothnia retinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050683
OMIM 58 607475
MeSH 45 D058499
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1843816
Orphanet 60 ORPHA85128
MedGen 43 C1843816
UMLS 74 C1843816

Summaries for Bothnia Retinal Dystrophy

UniProtKB/Swiss-Prot : 76 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 arteries, anomalies of. An important gene associated with Bothnia Retinal Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1). Affiliated tissues include eye, 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.

Description 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:

# Related Disease Score Top Affiliating Genes
1 nut midline carcinoma 11.5
2 arteries, anomalies of 10.0
3 myeloma, multiple 10.0
4 pulmonary hypertension 10.0
5 coronary artery anomaly 10.0
6 rubella 10.0
7 cytophagic histiocytic panniculitis 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 33 HP:0000512
2 nyctalopia 33 HP:0000662
3 macular degeneration 33 HP:0000608
4 retinal dystrophy 33 HP:0000556

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
macular degeneration
night blindness
abnormal erg
retinitis punctata albescens

Clinical features from OMIM:

607475

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 30 RLBP1

Anatomical Context for Bothnia Retinal Dystrophy

MalaCards organs/tissues related to Bothnia Retinal Dystrophy:

42
Eye

Publications for Bothnia Retinal Dystrophy

Variations for Bothnia Retinal Dystrophy

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

76
# Symbol AA change Variation ID SNP ID
1 RLBP1 p.Arg234Trp VAR_015172 rs28933990

ClinVar genetic disease variations for Bothnia Retinal Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RLBP1 NM_000326.4(RLBP1): c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) deletion Likely pathogenic rs786205626 GRCh37 Chromosome 15, 89760400: 89760411
2 RLBP1 NM_000326.4(RLBP1): c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) deletion Likely pathogenic rs786205626 GRCh38 Chromosome 15, 89217169: 89217180
3 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh37 Chromosome 15, 89754025: 89754025
4 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh38 Chromosome 15, 89210794: 89210794

Expression for Bothnia Retinal Dystrophy

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

Pathways for Bothnia Retinal Dystrophy

GO Terms for Bothnia Retinal Dystrophy

Sources for Bothnia Retinal Dystrophy

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
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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