Details of Disease | DrugMAP

General Information of Disease (ID: DISBCVN8)

Disease Name	Restrictive dermopathy 1
Synonyms	restrictive dermopathy, lethal; restrictive dermopathy; foetal hypokinesia sequence due to restrictive dermopathy; tight skin contracture syndrome, lethal; restrictive dermopathy 1, lethal; hyperkeratosis-contracture syndrome; fetal hypokinesia sequence due to restrictive dermopathy
Definition	A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISFPEQA: Laminopathy DIS2IBA1: Restrictive dermopathy DISBCVN8: Restrictive dermopathy 1
Disease Identifiers	MONDO ID MONDO_0800042 UMLS CUI C5676878 OMIM ID 275210 MedGen ID 1812447

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	Strong	Autosomal recessive	[1]
LMNA	OT3SG7ZR	Limited	Autosomal dominant	[2]
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References

1	Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet. 2002 May;31(1):94-9. doi: 10.1038/ng871. Epub 2002 Apr 1.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.