Details of Disease

General Information of Disease (ID: DISU5FU5)

Disease Name Autosomal recessive bestrophinopathy
Synonyms bestrophinopathy, autosomal recessive; ARB; retinopathy, Burgess-Black type; bestrophinopathy
Definition
Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).
Disease Hierarchy
DISWPE85: BEST1-related recessive retinopathy
DISLKKHD: Macular degeneration
DISU5FU5: Autosomal recessive bestrophinopathy
Disease Identifiers
MONDO ID
MONDO_0012733
UMLS CUI
C3888198
OMIM ID
611809
MedGen ID
854806
Orphanet ID
139455
SNOMED CT ID
723828008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FTH1 TT975ZT Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRB1 OTXYUNG0 Strong Genetic Variation [2]
HSF2 OTXNJIJ9 Strong Genetic Variation [3]
BEST1 OTWHE1ZC Definitive Autosomal recessive [4]
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References

1 The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16.
2 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Sci Rep. 2017 Feb 9;7:42078. doi: 10.1038/srep42078.
3 Inhibition of HSF2 SUMOylation via MEL18 upregulates IGF-IIR and leads to hypertension-induced cardiac hypertrophy.Int J Cardiol. 2018 Apr 15;257:283-290. doi: 10.1016/j.ijcard.2017.10.102. Epub 2017 Nov 10.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.