Details of Disease

General Information of Disease (ID: DISQFLN0)

Disease Name Retinitis pigmentosa with or without situs inversus
Synonyms retinitis pigmentosa caused by mutation in ARL2BP; retinitis pigmentosa with or without situs inversus; ARL2BP retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISQFLN0: Retinitis pigmentosa with or without situs inversus
Disease Identifiers
MONDO ID
MONDO_0014186
UMLS CUI
C4747737
OMIM ID
615434
MedGen ID
1658130

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARL2BP OT7REEDA Strong Autosomal recessive [1]
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References

1 Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.