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alpha 1-Antitrypsin Deficiency (CUI C0221757) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0221757

NCI Thesaurus Code: C84397  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.

GARD Definition: Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.  Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs.

Symptoms of AAT deficiency include

  • Shortness of breath and wheezing
  • Repeated lung infections
  • Tiredness
  • Rapid heartbeat upon standing
  • Vision problems
  • Weight loss

Some people have no symptoms and do not develop complications.

Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms.

NIH: National Heart, Lung, and Blood Institute

CSP Definition: autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among Caucasians of northern European ancestry.

MSH Definition: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.

Synonyms & Abbreviations: (see Synonym Details)
A-1ATD
A1AD
A1AT deficiency
A1ATD
AAT deficiency
AATD
ALPHA 1 ANTITRYPSIN DEFICIENCY
ALPHA 1 ANTITRYPSIN DEFIC
alpha 1-Antitrypsin Deficiencies
alpha 1-Antitrypsin Deficiency [Disease/Finding]
Alpha 1-antitrypsin deficiency
ALPHA ANTITRYPSIN DEFICIENCY 01
Alpha-1 anti-trypsin deficiency
ALPHA-1 ANTITRYPSIN DEFICIENCY
Alpha-1 Protease Inhibitor Deficiency
Alpha-1 proteinase inhibitor deficiency
Alpha-1-antitrypsin deficiency (disorder)
Alpha-1-antitrypsin deficiency
Alpha-1-antitrypsin def
alpha-1-Proteinase inhibitor deficiency
Deficiencies, alpha 1-Antitrypsin
Deficiency, alpha 1-Antitrypsin

External Source Codes: 
NCI Thesaurus Code C84397 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN Pi or PiZZ goes here + PHENOTYPE MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID C3762 SNOMEDCT_US
DATE_CREATED 06/14/2002 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-1633 CSP
DISEASE_IDENTIFIER_ID 17194 GARD
DISEASE_IDENTIFIER_ID 17195 GARD
DISEASE_IDENTIFIER_ID 17196 GARD
DISEASE_IDENTIFIER_ID 17197 GARD
DISEASE_IDENTIFIER_ID 33398 GARD
DX 19980101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,4,q,3,2,.,1, OMIM
GENESYMBOL AAT OMIM
GENESYMBOL PI OMIM
GENESYMBOL SERPINA1 OMIM
HAS_GARD_PAGE true GARD
HN 98 MSH
ICE AAT deficiency ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-12-08T00:00:00 GARD
MDA 19970620 MSH
MESH_DEFINITION Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS. NDFRT
MESH_DUI D019896 NDFRT
MESH_NAME alpha 1-Antitrypsin Deficiency NDFRT
MESH_UI M0029552 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C06.552.074 MSH
MN C08.381.112 MSH
MN C16.320.060 MSH
MN C23.550.325.500.500 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/alpha1antitrypsindeficiency.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Alpha-1-Antitrypsin Deficiency NCI
NUI N0000003965 NDFRT
ORDER_NO 04779 ICD10CM
PM 98 MSH
PRIMARY_PATH 10001806$10021606$10027424$10010331$Alpha-1 anti-trypsin deficiency$Inborn errors of metabolism NEC$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5784/alpha-1-antitrypsin-deficiency/resources/1 GARD
RXAUI 3258098 RXNORM
RXAUI 3258099 RXNORM
RXCUI 1023979 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 30188007 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E88.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E88.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E88.01 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E88.01 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3762 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T059262 MSH
TERMUI T840858 MSH
TERMUI T840859 MSH
TH GHR (2014) MSH
TH NLM (1998) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0221757

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