OBO ID: DOID:13372
Term Name: alpha 1-antitrypsin deficiency Search Ontology:
Synonyms:
  • AAT deficiency
Definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (4)
References:
  • GARD:5784
  • ICD10CM:E88.01
  • ICD9CM:273.4
  • MESH:D019896
  • NCI:C84397
  • OMIM:613490
  • SNOMEDCT_US_2023_03_01:30188007
  • UMLS_CUI:C0221757
Ontology: Human Disease   ( DOID:13372 )
Relationships
is a type of:
OTHER alpha 1-antitrypsin deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SERPINA1 Emphysema due to AAT deficiency 613490
Hemorrhagic diathesis due to antithrombin Pittsburgh 613490
Emphysema-cirrhosis, due to AAT deficiency 613490
ZEBRAFISH MODELS
Fish Conditions Citations
mnu102Tg standard conditions Yip et al., 2018
PHENOTYPE No data available

CITATIONS (1)
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