General Information of Disease (ID: DIS7BDKO)

Disease Name Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DIS27CUA: Bleeding disorder
DIS7BDKO: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Disease Identifiers
MONDO ID
MONDO_0015801
UMLS CUI
C5190706
MedGen ID
1675899
Orphanet ID
178396
SNOMED CT ID
782909004

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
SERPINA1 TTA7UJC Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SERPINA1 OTACYW9J Supportive Autosomal dominant [1]
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References

1 Alpha1-antitrypsin Pittsburgh in a family with bleeding tendency. Haematologica. 2009 Jun;94(6):881-4. doi: 10.3324/haematol.2008.004739.