AAT
MCID: ALP007
MIFTS: 54

Alpha 1-Antitrypsin Deficiency (AAT) malady

Summaries for Alpha 1-Antitrypsin Deficiency

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 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

MalaCards: Alpha 1-Antitrypsin Deficiency, also known as inherited emphysema, is related to bronchiectasis and vasculitis. An important gene associated with Alpha 1-Antitrypsin Deficiency is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1), and among its related pathways is Collagen biosynthesis and modifying enzymes. The drug alpha 1-proteinase inhibitor, human and the compounds isodesmosine and contrapsin have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and heart, and related mouse phenotype immune system.

Disease Ontology:8 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.

Genetics Home Reference:21 Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

NIH Rare Diseases:43 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. last updated: 7/26/2011

Wikipedia:64 Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...

Description from OMIM:47 613490

GeneReviews summary for alpha1-a

Aliases & Classifications for Alpha 1-Antitrypsin Deficiency

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 27ICD9CM, 35MeSH, 40NCIt, 47OMIM, 57SNOMED-CT
See all sources

Aliases & Descriptions:

alpha 1-antitrypsin deficiency 8 64 43 10 45 61
inherited emphysema 64 21 61
aatd 19 43 21
hereditary pulmonary emphysema 64 21
alpha 1 antitrypsin deficiency 43 22
alpha-1 antitrypsin deficiency 21 34
alpha1-antitrypsin deficiency 19 20
alpha-1 related emphysema 64 21
genetic emphysema 64 21
a1at deficiency 19 43
aat deficiency 8 43
aat 64 21
pathological accumulation of air in tissues 61
alpha-1 protease inhibitor deficiency 21
emphysema, hereditary pulmonary 61
alpha-1-antitrypsin deficiency 19
alpha-1 proteinase inhibitor 64
alpha-1-antitrypsin 9


External Ids:

Disease Ontology8 DOID:13372
ICD9CM27 273.4
SNOMED-CT57 154771007, 30188007
NCIt40 C84397
OMIM47 613490

Related Diseases for Alpha 1-Antitrypsin Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Alpha 1-Antitrypsin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis30.7ELANE, SERPINA3, SERPINA1
2vasculitis30.7C1S, PRTN3, SERPINA1, SERPINB1, ELANE
3asthma30.7PRTN3, MMP12, SERPINA1, SERPINA3, ELANE
4hepatitis c30.6SERPINA1, HFE, PRTN3
5intracranial aneurysm30.6ELN, ELANE, SERPINA1, PIGZ
6vascular disease30.3ELN, ELANE
7pulmonary disease, chronic obstructive30.2CHRNA3, MMP12, SERPINA1
8viral hepatitis30.2SERPINA1, SEPSECS, HFE
9abdominal aortic aneurysm30.2ELN, ELANE, MMP12
10ulcerative colitis30.2PRTN3
11wegener's granulomatosis30.2PRTN3, SERPINA1, SERPINB1, ELANE, ELN
12cystic fibrosis30.2PRTN3, OTC, SERPINA1, SERPINA3, ELANE, ELN
13bronchitis30.0SERPINA1
14acute pancreatitis29.9ELANE, SERPINA1, C1S
15acute leukemia29.9HFE, PRTN3
16wilson disease29.8OTC, HFE
17cerebral aneurysms29.8ELANE, ELN
18aneurysm disease29.8MMP12, SERPINA1, ELANE, ELN
19arthritis29.8PRTN3, HFE, MMP12, SERPINA3
20nephritis29.8PRTN3
21tuberculosis29.8SERPINA1
22hepatitis d10.5
23hepatitis a10.5
24protein c deficiency10.4
25congenital lobar emphysema10.3
26hemochromatosis10.3
27protein s deficiency10.3
28biliary hypoplasia10.3
29fibromuscular dysplasia10.3
30spontaneous pneumothorax10.3
31pancreatitis, chronic10.3
32pulmonary function10.3
33marfan syndrome10.3
34splenic artery aneurysm10.3
35prurigo nodularis10.3
36discitis10.3
37central retinal artery occlusion10.3
38williams syndrome10.3
39cytokine deficiency10.3
40specific antibody deficiency10.3
41decr deficiency10.3
42aortic disease10.2
43emphysema-cirrhosis, due to aat deficiency10.2
44fibromyalgia10.2
45membranoproliferative glomerulonephritis10.2
46porphyria cutanea tarda10.2
47cutis laxa10.2
48idiopathic pulmonary fibrosis10.2
49primary biliary cirrhosis10.2
50complement factor i deficiency10.2

Graphical network of the top 20 diseases related to Alpha 1-Antitrypsin Deficiency:



Diseases related to alpha 1-antitrypsin deficiency

Clinical Features for Alpha 1-Antitrypsin Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

613490

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Alpha 1-Antitrypsin Deficiency

Drug clinical trials:

Search ClinicalTrials for Alpha 1-Antitrypsin Deficiency

Search NIH Clinical Center for Alpha 1-Antitrypsin Deficiency

Search CenterWatch for Alpha 1-Antitrypsin Deficiency

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Alpha 1-Antitrypsin Deficiency

Sources:
20GeneTests, 22GTR
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Genetic tests related to Alpha 1-Antitrypsin Deficiency:

id Genetic test Affiliating Genes
1 Alpha1-antitrypsin Deficiency20 SERPINA1
2 Alpha-1-antitrypsin Deficiency22

Anatomical Context for Alpha 1-Antitrypsin Deficiency

Sources:
31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Alpha 1-Antitrypsin Deficiency:

33
Liver, Lung, Heart, T cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Alpha 1-Antitrypsin Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Alpha 1-Antitrypsin Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Alpha 1-Antitrypsin Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.9ELANE, SERPINA6, SERPINB1, OTC, RGS16, MMP12

Publications for Alpha 1-Antitrypsin Deficiency

Sources:
51PubMed
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Articles related to Alpha 1-Antitrypsin Deficiency:

idTitleAuthorsYear
1
Update: Alpha-1-antitrypsin deficiency. Summary of a scientific symposium at the conference of the Swiss Pneumologic Society on April 16th, 2009]. (19941265)
2009
2
Alpha 1-antitrypsin deficiency deaths in the United States from 1979-1991. An analysis using multiple-cause mortality data. (8681670)
1996
3
Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. (7912884)
1994

Genetic Variations for Alpha 1-Antitrypsin Deficiency

Expression for genes affiliated with Alpha 1-Antitrypsin Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha 1-Antitrypsin Deficiency

Search GEO for disease gene expression data for Alpha 1-Antitrypsin Deficiency.

Pathways for genes affiliated with Alpha 1-Antitrypsin Deficiency

Sources:
54Reactome
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Pathways related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4ELN, ELANE

Compounds for genes affiliated with Alpha 1-Antitrypsin Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
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Compounds related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1isodesmosine4510.7ELN, ELANE
2contrapsin4510.7SERPINA3, ELANE
3desmosine4510.7ELANE, ELN, SERPINA1
4copper45 2411.7SERPINA6, ELN
53,4-dichloroisocoumarin45 1111.7ELANE, PRTN3, C1S
6saccharin45 211.6PRTN3, ELANE
7tannins4510.6ELN, ELANE
8diisopropylfluorophosphate4510.6SERPINA3, ELANE, PRTN3, ELN, SERPINA1
9vitamin a45 11 2412.6ELN, SERPINA1, SERPINA3, SERPINA6, ELANE
10heparin45 29 11 2413.6ELN, ELANE, SERPINA3, SERPINA1, C1S
11(4-aminophenyl)mercuric acetate4510.5ELN, ELANE
12valine4510.5PRTN3, ELANE, SERPINA3, ELN
13fibrinogen4510.5SERPINA3, SERPINA1, ELN, C1S, MMP12, ELANE
14propylthiouracil45 2 1112.5PRTN3, ELANE
15chymostatin4510.4ELANE, SERPINA3
16oligonucleotide4510.4MMP12, HFE, OTC, SERPINA1, SERPINA3, SERPINA2P
17hydrocortisone45 2 60 1113.4ELANE, SERPINA6, ELN
18estrogen4510.4SERPINA1, PRTN3, SERPINA3, ELN, ELANE, SERPINA6
19cysteine4510.4SERPINA1, HFE, RGS16, SERPINA3, SERPINA6, ELANE
20testosterone45 60 11 2413.4SERPINA6, HFE, SERPINA2P, ELANE, ELN
21glucose4510.4CDIPT, SERPINA1, SERPINA3, SERPINA6, SERPINA2P, HFE
22thermolysin4510.4ELN, ELANE
23lipid4510.4PRTN3, SERPINA3, HFE, CDIPT, MMP12, OTC
24serine4510.3SEPSECS, TMBIM4, SERPINA2P, SERPINI1, SERPINA3, MMP12
25alanine4510.3PRTN3, RGS16, SERPINA6, ELN, HFE, SERPINA3
26gold4510.3HFE, SERPINA3, PRTN3
27hocl4510.3SERPINA1, ELANE
28calcium45 50 11 2413.1SERPINB1, PRTN3, CDIPT, C1S, SERPINA3, SERPINI1
29pmsf4510.1PRTN3

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.1C1S, MMP12, SERPINA1, SERPINA3, SERPINA2P, ELANE
2extracellular spaceGO:0056159.8SERPINA1, SERPINA3, SERPINB1, SERPINI1, SERPINA6, SERPINA2P

Biological processes related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:03057410.3ELANE, MMP12, PRTN3
2regulation of proteolysisGO:03016210.0SERPINA6, SERPINA1, SERPINA3, SERPINB1, SERPINI1, SERPINA2P
3negative regulation of endopeptidase activityGO:0109519.8SERPINA2P, SERPINA1, SERPINA3, SERPINB1, SERPINI1, SERPINA6

Molecular functions related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00486710.1SERPINA2P, SERPINA6, SERPINI1, SERPINB1, SERPINA3, SERPINA1

Products for genes affiliated with Alpha 1-Antitrypsin Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha 1-Antitrypsin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet