Details of Disease | DrugMAP

General Information of Disease (ID: DISGW6SI)

Disease Name	Mandibuloacral dysplasia progeroid syndrome
Synonyms	MDPS; mandibuloacral dysplasia associated to MTX2
Disease Hierarchy	DISYKSRF: Genetic disease DISGW6SI: Mandibuloacral dysplasia progeroid syndrome
Disease Identifiers	MONDO ID MONDO_0030880 UMLS CUI C5436867 OMIM ID 619127 MedGen ID 1741713

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
MTX2	OTBD8O8Y	Strong	Autosomal recessive	[1]
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References

1	Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9.