Details of Disease | DrugMAP

General Information of Disease (ID: DIS80UQ8)

Disease Name	RECON progeroid syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DIS80UQ8: RECON progeroid syndrome
Disease Identifiers	MONDO ID MONDO_0957266 UMLS CUI C5830504 OMIM ID 620370 MedGen ID 1841140

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
RECQL	OTPCH3JH	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301.