General Information of Disease (ID: DISPALDN)

Disease Name Cryptogenic multifocal ulcerous stenosing enteritis
Synonyms CMUSE
Disease Hierarchy
DISGPMUQ: Intestinal disorder
DISPALDN: Cryptogenic multifocal ulcerous stenosing enteritis
Disease Identifiers
MONDO ID
MONDO_0018765
UMLS CUI
C4302263
MedGen ID
927932
Orphanet ID
468635
SNOMED CT ID
722849002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PLA2G4A TTT1JVS Definitive GermlineCausalMutation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PLA2G4A DE08Z3W Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLA2G4A OTE70SOT Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-. Gut. 2014 Jan;63(1):96-104. doi: 10.1136/gutjnl-2012-303581. Epub 2012 Dec 25.