Details of Disease

General Information of Disease (ID: DISFO1J1)

Disease Name Retinitis pigmentosa 39
Synonyms retinitis pigmentosa type 39; retinitis pigmentosa 39; RP39; USH2A retinitis pigmentosa; retinitis pigmentosa caused by mutation in USH2A
Definition Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.
Disease Hierarchy
DISCGPY8: Retinitis pigmentosa
DISFO1J1: Retinitis pigmentosa 39
Disease Identifiers
MONDO ID
MONDO_0013436
UMLS CUI
C3151138
OMIM ID
613809
MedGen ID
462488

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
USH2A OT6QRP86 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
USH2A TTVCLLA moderate CausalMutation [2]
USH2A TTVCLLA Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8.
2 Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937.