Details of Disease | DrugMAP

General Information of Disease (ID: DISI414T)

Disease Name	Obsolete lethal restrictive dermopathy
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISI414T: Obsolete lethal restrictive dermopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZMPSTE24	OTUMYTEV	Definitive	Autosomal recessive	[1]
LMNA	OT3SG7ZR	Supportive	Autosomal dominant	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Restrictive dermopathy: a rare laminopathy. Arch Gynecol Obstet. 2008 Sep;278(3):201-8. doi: 10.1007/s00404-008-0676-6. Epub 2008 May 10.