Details of Disease | DrugMAP

General Information of Disease (ID: DISL1U86)

Disease Name	Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disease Hierarchy	DISVS67S: Vascular disease DISL1U86: Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disease Identifiers	MONDO ID MONDO_0017818 UMLS CUI C5190604 MedGen ID 1673111 Orphanet ID 314718 SNOMED CT ID 782773005

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
EFEMP2	OT0I2B4J	Supportive	Autosomal recessive	[1]
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References

1	Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.