Details of Disease

General Information of Disease (ID: DISUCHDT)

Disease Name Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Synonyms POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV; polymicrogyria with or without vascular-type EDS; vascular Ehlers-Danlos-polymicrogyria syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISUCHDT: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Disease Identifiers
MONDO ID
MONDO_0032688
UMLS CUI
C5193040
OMIM ID
618343
MedGen ID
1675672

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
COL3A1 OTT1EMLM Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.