BRD
MCID: BTH002
MIFTS: 19

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 57 12 59 75 29 13 6 73
Vasterbotten Dystrophy 57 12 75
Dystrophy, Retinal, Bothnia 40
Västerbotten Dystrophy 59
Brd 75

Characteristics:

Orphanet epidemiological data:

59
bothnia retinal dystrophy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
bothnia retinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 607475
Disease Ontology 12 DOID:0050683
Orphanet 59 ORPHA85128
UMLS via Orphanet 74 C1843816
ICD10 via Orphanet 34 H35.5
MedGen 42 C1843816
MeSH 44 D058499
UMLS 73 C1843816

Summaries for Bothnia Retinal Dystrophy

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include eye, and related phenotypes are abnormal electroretinogram and nyctalopia

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 rubella 10.1

Symptoms & Phenotypes for Bothnia Retinal Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
macular degeneration
night blindness
abnormal erg
retinitis punctata albescens


Clinical features from OMIM:

607475

Human phenotypes related to Bothnia Retinal Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 nyctalopia 32 HP:0000662
3 macular degeneration 32 HP:0000608
4 retinal dystrophy 32 HP:0000556

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:

41
Eye

Publications for Bothnia Retinal Dystrophy

Variations for Bothnia Retinal Dystrophy

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

75
# 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.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh37 Chromosome 15, 89754025: 89754025
2 RLBP1 NM_000326.4(RLBP1): c.700C> T (p.Arg234Trp) single nucleotide variant Pathogenic rs28933990 GRCh38 Chromosome 15, 89210794: 89210794
3 RLBP1 NM_000326.4(RLBP1): c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) deletion Likely pathogenic rs786205626 GRCh37 Chromosome 15, 89760400: 89760411
4 RLBP1 NM_000326.4(RLBP1): c.286_297delTTCCTGCGCTTC (p.Phe96_Phe99del) deletion Likely pathogenic rs786205626 GRCh38 Chromosome 15, 89217169: 89217180

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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