Details of Disease

General Information of Disease (ID: DISPM26S)

Disease Name Retinitis pigmentosa 19
Synonyms RP 19; retinitis pigmentosa 19; retinitis pigmentosa type 19; retinitis pigmentosa caused by mutation in ABCA4; RP19; ABCA4 retinitis pigmentosa
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.
Disease Hierarchy
DISLEON6: ABCA4-related retinopathy
DISCGPY8: Retinitis pigmentosa
DISPM26S: Retinitis pigmentosa 19
Disease Identifiers
MONDO ID
MONDO_0011137
UMLS CUI
C1866422
OMIM ID
601718
MedGen ID
400996

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
ABCA4 TTLB52K Limited CausalMutation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCA4 DTM4YG0 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCA4 OTMA4IG9 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 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.
2 Age at onset curves of retinitis pigmentosa. Arch Ophthalmol. 2008 Mar;126(3):337-40. doi: 10.1001/archopht.126.3.337.