AAT
MCID: ALP007
MIFTS: 61

Alpha 1-Antitrypsin Deficiency (AAT) malady

Summaries for Alpha 1-Antitrypsin Deficiency

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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 hepatitis and bronchiectasis. 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 testes, 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:42 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:63 Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...

Description from OMIM:46 613490

GeneReviews summary for alpha1-a

Aliases & Classifications for Alpha 1-Antitrypsin Deficiency

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 9diseasecard, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 22GTR, 33MedlinePlus, 27ICD9CM, 34MeSH, 39NCIt, 46OMIM, 56SNOMED-CT
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Aliases & Descriptions:

alpha 1-antitrypsin deficiency 8 63 42 10 44 60
inherited emphysema 63 21 60
aatd 19 42 21
hereditary pulmonary emphysema 63 21
alpha 1 antitrypsin deficiency 42 22
alpha-1 antitrypsin deficiency 21 33
alpha1-antitrypsin deficiency 19 20
alpha-1 related emphysema 63 21
genetic emphysema 63 21
a1at deficiency 19 42
aat deficiency 8 42
aat 63 21
pathological accumulation of air in tissues 60
alpha-1 protease inhibitor deficiency 21
emphysema, hereditary pulmonary 60
alpha-1-antitrypsin deficiency 19
alpha-1 proteinase inhibitor 63
alpha-1-antitrypsin 9


External Ids:

Disease Ontology8 DOID:13372
ICD9CM27 273.4
SNOMED-CT56 154771007, 30188007
NCIt39 C84397
OMIM46 613490

Related Diseases for Alpha 1-Antitrypsin Deficiency

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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 182)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.8HFE, OTC, SEPSECS, SERPINA1
2bronchiectasis30.6ELANE, SERPINA3, SERPINA1
3vasculitis30.6C1S, PRTN3, SERPINA1, SERPINB1, ELANE
4pulmonary emphysema30.6MMP12, SERPINA1, SERPINB1, ELANE, ELN
5intracranial aneurysm30.5ELN, ELANE, SERPINA1, PIGZ
6pancreatitis30.4C1S, SERPINA1, ELANE
7hepatitis c30.4SERPINA1, HFE, PRTN3
8wegener's granulomatosis30.4PRTN3, SERPINA1, SERPINB1, ELANE, ELN
9asthma30.4PRTN3, MMP12, SERPINA1, SERPINA3, ELANE
10hepatocellular carcinoma30.4ELANE, SERPINA1, OTC, MMP12, HFE
11glomerulonephritis30.4PRTN3, SERPINB1, ELANE
12sarcoidosis30.3SERPINA3
13cerebrovascular disease30.3SERPINA3
14vascular disease30.3ELN, ELANE
15viral hepatitis30.2SERPINA1, SEPSECS, HFE
16abdominal aortic aneurysm30.2ELN, ELANE, MMP12
17psoriasis30.2SERPINA1, SERPINA3, SERPINB1, ELANE
18ulcerative colitis30.2PRTN3
19galactosemia30.2SERPINA3, SERPINA1, SEPSECS, HFE, PRTN3
20cystic fibrosis30.2PRTN3, OTC, SERPINA1, SERPINA3, ELANE, ELN
21alzheimer's disease30.2C1S, HFE, SERPINA3, SERPINI1, ELANE
22pulmonary fibrosis30.2ELN, ELANE
23liver cirrhosis30.1HFE, SERPINA1
24bronchitis30.0SERPINA1
25acute pancreatitis29.8ELANE, SERPINA1, C1S
26acute leukemia29.8HFE, PRTN3
27dementia29.8SERPINI1, SERPINA3
28leukemia29.8PRTN3, HFE, OTC, SERPINA3
29lung cancer29.7CHRNA3
30aneurysm disease29.7MMP12, SERPINA1, ELANE, ELN
31arthritis29.7PRTN3, HFE, MMP12, SERPINA3
32tuberculosis29.7SERPINA1
33rheumatoid arthritis29.7C1S, PRTN3, HFE, MMP12, SERPINA1, SERPINA3
34liver disease10.7
35panniculitis10.5
36congenital lobar emphysema10.3
37hemochromatosis10.3
38hepatitis a10.3
39pneumothorax10.3
40marfan syndrome10.2
41splenic artery aneurysm10.2
42cholestasis10.2
43discitis10.2
44endometritis10.2
45leukocyte disease10.2
46periodontal disease10.2
47central retinal artery occlusion10.2
48bronchial disease10.2
49corneal ulcer10.2
50retinal artery occlusion10.2

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

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46OMIM
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Clinical features from OMIM:

613490

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Alpha 1-Antitrypsin Deficiency

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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Alpha 1-Antitrypsin Deficiency:

32
Liver, Lung, Testes, Heart

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

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36MGI
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MGI Mouse Phenotypes related to Alpha 1-Antitrypsin Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.9ELANE, SERPINA6, SERPINB1, OTC, RGS16, MMP12

Publications for Alpha 1-Antitrypsin Deficiency

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50PubMed
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Articles related to Alpha 1-Antitrypsin Deficiency:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Alpha1-antitrypsin deficiency carriers, serum alpha 1-antitrypsin concentration, and non-small cell lung cancer survival. (21173712)
2011
2
Severe ulcerative panniculitis caused by alpha 1-antitrypsin deficiency: remission induced and maintained with intravenous alpha 1-antitrypsin. (21679830)
2011
3
Screening and familial testing of patients for alpha 1-antitrypsin deficiency. (18398118)
2008
4
Issues in the diagnosis of alpha 1-antitrypsin deficiency. (18313128)
2008
5
Angioedema in hereditary deficiency of complement factor 1 esterase inhibitor and alpha 1-antitrypsin]. (15662581)
2005
6
Alpha 1-antitrypsin deficiency associated iatrogenic coronary artery dissection during intracoronary ultrasound examination. (14689113)
2003
7
Analysis of two common alpha 1-antitrypsin deficiency alleles (PI*Z and PI*S) in subjects with periodontitis. (12492914)
2002
8
Feasibility of a clinical trial of augmentation therapy for alpha(1)-antitrypsin deficiency. The Alpha 1-Antitrypsin Deficiency Registry Study Group. (10712324)
2000
9
Spontaneous pneumothorax and alpha 1-antitrypsin deficiency. (10771802)
2000
10
alpha 1-antitrypsin deficiency. (10063329)
1998
11
Clinical features and prognosis of life time non-smokers with severe alpha 1-antitrypsin deficiency. (9741368)
1998
12
Body mass index and mortality in patients with severe alpha 1-antitrypsin deficiency. (9122515)
1997
13
Chronic pancreatitis with alpha 1-antitrypsin deficiency: from uncontrolled trypsin activation? (8617134)
1996
14
Alpha 1-antitrypsin deficiency. A conformational disease. (8989158)
1996
15
Lung transplantation for alpha 1-antitrypsin deficiency emphysema. (8989166)
1996
16
A 49-year-old man with alpha 1-antitrypsin deficiency and abnormal iron study results. (8723327)
1996
17
alpha 1-antitrypsin deficiency and idiopathic pulmonary fibrosis in a family. (8865799)
1996
18
Alpha 1-antitrypsin deficiency deaths in the United States from 1979-1991. An analysis using multiple-cause mortality data. (8681670)
1996
19
Patient-administered sequential spirometry in healthy volunteers and patients with alpha 1-antitrypsin deficiency. (8736204)
1996
20
New insights into the structural basis of alpha 1-antitrypsin deficiency. (8977959)
1996
21
Henoch-SchAPnlein purpura and alpha 1-antitrypsin deficiency. (8538944)
1995
22
Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants. (7721731)
1995
23
Clinical manifestations of alpha 1-antitrypsin deficiency. (7729860)
1995
24
Pathophysiology and treatment of alpha 1-antitrypsin deficiency. (7606551)
1995
25
Alpha 1-antitrypsin deficiency and anti-proteinase 3 antibodies in anti-neutrophil cytoplasmic antibody (ANCA)-associated systemic vasculitis. (7743654)
1995
26
Failure to achieve adequate serum levels with monthly replacement therapy in alpha 1-antitrypsin deficiency. (7774374)
1994
27
Extra-hepatic biliary hypoplasia associated with alpha 1-antitrypsin deficiency. (8056243)
1994
28
Preincubation superior to strict competition with mismatched oligonucleotides for detecting alpha 1-antitrypsin deficiency. (8070101)
1994
29
Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society. (8277549)
1994
30
Histopathological features of liver disease in alpha 1-antitrypsin deficiency. (7518264)
1994
31
Alpha 1-antitrypsin deficiency in intracranial aneurysms and cervical artery dissection. (7905956)
1994
32
Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency. (8109800)
1994
33
Alpha 1-antitrypsin deficiency and the liver. (8025409)
1994
34
Liver disease associated with alpha 1-antitrypsin deficiency. (8272508)
1993
35
Ruptured mesenteric artery aneurysm in a patient with alpha 1-antitrypsin deficiency: etiologic implications. (8433437)
1993
36
Alpha 1-antitrypsin deficiency: an overview. (8396299)
1993
37
Bronchiectasis in patients with alpha 1-antitrypsin deficiency. A rare occurrence? (8222792)
1993
38
Vitamin E and liver damage in MZ heterozygous infants with alpha 1-antitrypsin deficiency. (8495073)
1993
39
Lack of association between HLA antigen DR3 and alpha 1-antitrypsin deficiency in liver transplant recipients. (8393758)
1993
40
Alpha 1-antitrypsin deficiency: circulatory arrest following induction of anaesthesia. (1524179)
1992
41
High prevalence of viral infection in adults with homozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease. (1530195)
1992
42
Iron, copper and alpha 1-antitrypsin deficiency in the liver of cirrhotic and schistosomotic patients. (1307214)
1992
43
Liver involvement in infants with PiSZ phenotype of alpha 1-antitrypsin deficiency. (1344977)
1992
44
A role for intermediate, heterozygous alpha 1-antitrypsin deficiency in obstructive lung disease. (2394133)
1990
45
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons. (1975477)
1990
46
The alpha 1-antitrypsin gene and its deficiency states. (2696185)
1989
47
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. (2539391)
1989
48
Severe deficiency of alpha 1-antitrypsin associated with cutaneous vasculitis, rapidly progressive glomerulonephritis, and colitis. (3488682)
1986
49
Alpha 1-antitrypsin deficiency: the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ: a survey by the British Thoracic Association. (6979454)
1982
50
Association between psoriasis and the alpha 1-antitrypsin deficiency gene Z. (6155027)
1980

Genetic Variations for Alpha 1-Antitrypsin Deficiency

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Expression for genes affiliated with Alpha 1-Antitrypsin Deficiency

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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

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53Reactome
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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

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44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1isodesmosine4410.7ELN, ELANE
2contrapsin4410.7SERPINA3, ELANE
3desmosine4410.7ELANE, ELN, SERPINA1
4copper44 2411.7SERPINA6, ELN
53,4-dichloroisocoumarin44 1111.7ELANE, PRTN3, C1S
6saccharin44 211.6PRTN3, ELANE
7tannins4410.6ELN, ELANE
8diisopropylfluorophosphate4410.6SERPINA3, ELANE, PRTN3, ELN, SERPINA1
9vitamin a44 11 2412.6ELN, SERPINA1, SERPINA3, SERPINA6, ELANE
10heparin44 28 11 2413.6ELN, ELANE, SERPINA3, SERPINA1, C1S
11(4-aminophenyl)mercuric acetate4410.5ELN, ELANE
12valine4410.5PRTN3, ELANE, SERPINA3, ELN
13fibrinogen4410.5SERPINA3, SERPINA1, ELN, C1S, MMP12, ELANE
14propylthiouracil44 2 1112.5PRTN3, ELANE
15chymostatin4410.4ELANE, SERPINA3
16oligonucleotide4410.4MMP12, HFE, OTC, SERPINA1, SERPINA3, SERPINA2P
17hydrocortisone44 2 59 1113.4ELANE, SERPINA6, ELN
18estrogen4410.4SERPINA1, PRTN3, SERPINA3, ELN, ELANE, SERPINA6
19cysteine4410.4SERPINA1, HFE, RGS16, SERPINA3, SERPINA6, ELANE
20testosterone44 59 11 2413.4SERPINA6, HFE, SERPINA2P, ELANE, ELN
21glucose4410.4CDIPT, SERPINA1, SERPINA3, SERPINA6, SERPINA2P, HFE
22thermolysin4410.4ELN, ELANE
23lipid4410.4PRTN3, SERPINA3, HFE, CDIPT, MMP12, OTC
24serine4410.3SEPSECS, TMBIM4, SERPINA2P, SERPINI1, SERPINA3, MMP12
25alanine4410.3PRTN3, RGS16, SERPINA6, ELN, HFE, SERPINA3
26gold4410.3HFE, SERPINA3, PRTN3
27hocl4410.3SERPINA1, ELANE
28calcium44 49 11 2413.1SERPINB1, PRTN3, CDIPT, C1S, SERPINA3, SERPINI1
29pmsf4410.1PRTN3

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

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16Gene Ontology
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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

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Sources for Alpha 1-Antitrypsin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet