AAT
MCID: ALP007
MIFTS: 61

Alpha 1-Antitrypsin Deficiency (AAT) malady

Genetic diseases, Rare diseases categories

Summaries for Alpha 1-Antitrypsin Deficiency

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Alpha 1-Antitrypsin Deficiency, also known as inherited emphysema, is related to hepatitis and aneurysm. 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 Selected targets of C EBPbeta. The drug alpha 1-proteinase inhibitor, human and the compounds contrapsin and isodesmosine have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and heart.

Disease Ontology:9 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.

Description from OMIM:48 613490

GeneReviews summary for alpha1-a

Aliases & Classifications for Alpha 1-Antitrypsin Deficiency

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 41NCIt, 59SNOMED-CT, 48OMIM, 36MeSH, 28ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

alpha 1-antitrypsin deficiency 9 66 44 11 46 63
inherited emphysema 66 22 63
aat deficiency 9 20 44
aatd 20 44 22
alpha-1 antitrypsin deficiency 20 22
hereditary pulmonary emphysema 66 22
alpha 1 antitrypsin deficiency 44 23
alpha-1 related emphysema 66 22
genetic emphysema 66 22
a1at deficiency 20 44
aat 66 22
pathological accumulation of air in tissues 63
alpha-1 protease inhibitor deficiency 22
emphysema, hereditary pulmonary 63
alpha1-antitrypsin deficiency 21
alpha-1 proteinase inhibitor 66
alpha-1-antitrypsin 10


External Ids:

Disease Ontology9 DOID:13372
NCIt41 C84397
OMIM48 613490
SNOMED-CT59 154771007, 30188007
ICD9CM28 273.4

Related Diseases for Alpha 1-Antitrypsin Deficiency

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18GeneCards, 19GeneDecks
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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 200)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.9SERPINA1, SEPSECS, OTC
2aneurysm30.9ELN, ELANE, SERPINA1
3pulmonary emphysema30.8SERPINA1, SERPINB1, ELANE, ELN
4vasculitis30.8SERPINA1, SERPINB1, PRTN3, ELANE, BPI
5intracranial aneurysm30.7SERPINA1, ELANE, ELN
6bronchiectasis30.6IGES, CFTR, SERPINA1, SERPINA3, ELANE, BPI
7glomerulonephritis30.6ELANE, PRTN3, SERPINB1
8pancreatitis30.5ELANE, SERPINA1, CFTR, IGES
9wegener's granulomatosis30.5BPI, ELN, ELANE, PRTN3, SERPINB1, SERPINA1
10asthma30.5IGES, HLA-DRB1, SERPINA1, SERPINA3, PRTN3, ELANE
11galactosemia30.4SEPSECS, SERPINA1
12cutis laxa30.4ELANE, ELN
13abdominal aortic aneurysm30.4ELN, ELANE
14viral hepatitis30.3SEPSECS, SERPINA1, HLA-DRB1
15primary biliary cirrhosis30.3HLA-DRB1, SEPSECS, PRTN3
16nephrotic syndrome30.3SERPINA6, SERPINA1, IGES
17psoriasis30.3HLA-DRB1, SERPINA1, SERPINA3, SERPINB1, ELANE
18bronchitis30.2SERPINA1
19exocrine pancreatic insufficiency30.2CFTR, ELANE
20ulcerative colitis30.1HLA-DRB1, CFTR, SERPINA1, PRTN3, ELANE, BPI
21cystic fibrosis30.1IGES, CFTR, SERPINA1, SERPINA3, PRTN3, ELANE
22polyarteritis nodosa30.0PRTN3
23liver cirrhosis30.0HLA-DRB1, SERPINA1, SEPSECS, SERPINA3, BPI, OTC
24cerebral aneurysms30.0ELN, ELANE
25emphysema due to aat deficiency29.9OTC, CDIPT, ST6GAL2, ELANE, PRTN3, ADRA1D
26ankylosing spondylitis29.9SERPINA1, PRTN3
27tuberculosis29.9IGES, HLA-DRB1, SERPINA1, BPI
28leukemia29.8HLA-DRB1, CFTR, SERPINA3, PRTN3, OTC
29rheumatoid arthritis29.6HLA-DRB1, CFTR, SERPINA1, SERPINA3, SERPINA6, PRTN3
30liver disease10.7
31panniculitis10.6
32hemochromatosis10.3
33pneumothorax10.3
34biliary hypoplasia10.3
35fibromuscular dysplasia10.3
36spontaneous pneumothorax10.3
37pulmonary function10.3
38splenic artery aneurysm10.3
39marfan syndrome10.3
40cholestasis10.3
41prurigo nodularis10.3
42discitis10.3
43endometritis10.3
44periodontal disease10.3
45sarcoidosis10.3
46blindness10.3
47aortic disease10.3
48central retinal artery occlusion10.3
49corneal ulcer10.3
50retinal artery occlusion10.3

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



Diseases related to alpha 1-antitrypsin deficiency

Symptoms for Alpha 1-Antitrypsin Deficiency

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48OMIM
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Clinical features from OMIM:

613490

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Alpha 1-Antitrypsin Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Alpha 1-Antitrypsin Deficiency:

id Genetic test Affiliating Genes
1 Alpha1-Antitrypsin Deficiency21 SERPINA1
2 Alpha-1-Antitrypsin Deficiency23

Anatomical Context for Alpha 1-Antitrypsin Deficiency

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Alpha 1-Antitrypsin Deficiency:

34
Liver, Lung, Heart, Testes

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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Publications for Alpha 1-Antitrypsin Deficiency

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53PubMed
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Articles related to Alpha 1-Antitrypsin Deficiency:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. (22016686)
2011
2
Acquired alpha 1-antitrypsin deficiency in tropical pulmonary eosinophilia. (21808138)
2011
3
Exacerbations in {alpha}1-antitrypsin deficiency. (15929953)
2005
4
Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency. (14684378)
2004
5
Panniculitis secondary to extravasation of clarithromycin in a patient with alpha 1-antitrypsin deficiency (phenotype PiZ). (12932253)
2003
6
Epidemiology of emphysema in subjects with severe alpha 1-antitrypsin deficiency. (12064091)
2002
7
Suppurative panniculitis associated with alpha 1-antitrypsin deficiency (PiSZ phenotype) treated with doxycycline. (11422069)
2001
8
Liver injury in alpha 1-antitrypsin deficiency. (11232197)
2000
9
Alpha 1-antitrypsin deficiency: the Brescia clinical study]. (10932919)
2000
10
Alpha 1-antitrypsin deficiency. (10370898)
1999
11
Alpha 1-antitrypsin deficiency and related liver disease. (19864752)
1999
12
Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. (9447774)
1997
13
Body mass index and mortality in patients with severe alpha 1-antitrypsin deficiency. (9122515)
1997
14
Chronic pancreatitis with alpha 1-antitrypsin deficiency: from uncontrolled trypsin activation? (8617134)
1996
15
Alpha 1-antitrypsin deficiency. A conformational disease. (8989158)
1996
16
Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency. (8711667)
1996
17
Lung transplantation for alpha 1-antitrypsin deficiency emphysema. (8989166)
1996
18
Pathogenesis and pathology of liver disease associated with alpha 1-antitrypsin deficiency. (8989160)
1996
19
A 49-year-old man with alpha 1-antitrypsin deficiency and abnormal iron study results. (8723327)
1996
20
Pathogenesis of hereditary emphysema and replacement therapy for alpha 1-antitrypsin deficiency. Insight into the more common forms of emphysema. (8989159)
1996
21
alpha 1-antitrypsin deficiency and idiopathic pulmonary fibrosis in a family. (8865799)
1996
22
Henoch-SchAPnlein purpura and alpha 1-antitrypsin deficiency. (8538944)
1995
23
Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency. (7549305)
1995
24
The liver in adolescents with alpha 1-antitrypsin deficiency. (7635419)
1995
25
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. (8520784)
1995
26
Survival in relation to lung function and smoking cessation in patients with severe hereditary alpha 1-antitrypsin deficiency. (7842193)
1995
27
Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants. (7721731)
1995
28
Clinical manifestations of alpha 1-antitrypsin deficiency. (7729860)
1995
29
Alpha 1-antitrypsin deficiency and chronic pancreatitis. (7555455)
1995
30
Molecular pathology of alpha 1-antitrypsin deficiency and its significance to clinical medicine. (7820538)
1994
31
Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. (7828337)
1994
32
Lung function in adolescents with alpha 1-antitrypsin deficiency. (7841733)
1994
33
Conformational changes in serpins and the mechanism of alpha 1-antitrypsin deficiency. (7952655)
1994
34
Failure to achieve adequate serum levels with monthly replacement therapy in alpha 1-antitrypsin deficiency. (7774374)
1994
35
A subtle clue to the histopathologic diagnosis of early alpha 1-antitrypsin deficiency panniculitis. (8040408)
1994
36
alpha 1-Antitrypsin deficiency in Indian patients with chronic obstructive airways and other pulmonary diseases. (7923455)
1994
37
A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. (8090762)
1994
38
Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. (8359811)
1993
39
The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. (8441253)
1993
40
Alpha 1-antitrypsin deficiency: circulatory arrest following induction of anaesthesia. (1524179)
1992
41
Molecular biology and genetics of alpha 1-antitrypsin deficiency. (1439881)
1992
42
High prevalence of viral infection in adults with homozygous and heterozygous alpha 1-antitrypsin deficiency and chronic liver disease. (1530195)
1992
43
Neutrophil accumulation in the lung in alpha 1-antitrypsin deficiency. Spontaneous release of leukotriene B4 by alveolar macrophages. (1653278)
1991
44
Discovery of alpha 1-antitrypsin deficiency. (2117160)
1990
45
Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children. (2327559)
1990
46
Augmentation therapy of alpha 1-antitrypsin deficiency. (2340051)
1990
47
Pathogenesis of liver disease in alpha 1-antitrypsin deficiency]. (2092568)
1990
48
Alpha 1-antitrypsin deficiency and prune-belly syndrome--first report of coincidence. (2335908)
1990
49
"Classic" galactosemia associated with alpha 1-antitrypsin deficiency. (6605228)
1983
50
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. (313837)
1979

Variations for Alpha 1-Antitrypsin Deficiency

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Expression for genes affiliated with Alpha 1-Antitrypsin Deficiency

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore
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Pathways related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ELANE, SERPINA1

Compounds for genes affiliated with Alpha 1-Antitrypsin Deficiency

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46Novoseek, 3BitterDB, 12DrugBank, 25HMDB, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR
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Compounds related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1contrapsin4610.5SERPINA3, ELANE
2isodesmosine4610.4ELANE, ELN
3tannins4610.3ELANE, ELN
4saccharin46 311.3PRTN3, ELANE
5(4-aminophenyl)mercuric acetate4610.3ELANE, ELN
6chymostatin4610.3SERPINA3, ELANE
73,4-dichloroisocoumarin46 1211.3ELANE, PRTN3
8hocl4610.3ELANE, SERPINA1
9trichloroacetic acid4610.3CFTR, ELN
10thermolysin4610.3ELANE, ELN
11desmosine4610.2SERPINA1, ELN, ELANE
12propylthiouracil46 3 1212.2ELANE, PRTN3
13pmsf4610.1ELANE, PRTN3
14urea46 25 1212.1SERPINA3, BPI, OTC
15dermatan sulfate4610.1ELN, CFTR, ELANE
16hydrocortisone46 3 62 1213.0SERPINA6, ELN, ELANE
17ozone4610.0IGES, ELN
18benzamidine46 1211.0PRTN3, ELANE
19fibrinogen4610.0ELANE, SERPINA1, SERPINA3, ELN
20polysaccharide469.9SERPINA3, ELN, BPI, SERPINA1
21fmlp469.9ELANE, PRTN3, BPI, SERPINA3
22paraffin469.8ELN, SERPINA1, SERPINA3, CFTR
23carbohydrates469.8CFTR, ELN, SERPINA6
24hydralazine46 52 1211.8ELN, SERPINB1
25vitamin a46 25 1211.8SERPINA1, SERPINA3, SERPINA6, ELANE, ELN
26creatinine469.7OTC, SERPINA1, SERPINA3, ELN, BPI
27copper46 2510.7SERPINA1, SERPINA6, ELN
28lysine469.7HLA-DRB1, ELN, SERPINA1, OTC
29thyroxine46 2510.7SERPINA3, SERPINA6, ELANE
30diisopropylfluorophosphate469.7ELN, SERPINA1, SERPINA3, PRTN3, ELANE
31acetylcholine46 52 30 25 1213.7SERPINA3, CFTR, IGES, ELANE
32cyclosporin a46 30 6211.6ELANE, IGES, CFTR, SEPSECS
33arginine469.6SERPINA6, HLA-DRB1, ELN, OTC, SERPINA3
34oligonucleotide469.5SERPINA3, OTC, SERPINA2, SERPINA1, HLA-DRB1
35lactate469.5OTC, ELN, BPI, ELANE, IGES
36h2o2469.5CFTR, SERPINA1, SERPINB1, ELN, ELANE
37glutamate469.5ELN, OTC, HLA-DRB1, CFTR, ELANE
38superoxide46 2510.5SERPINA3, SERPINB1, PRTN3, ELANE
39testosterone46 62 25 1212.4SERPINA6, SERPINA2, ELANE, ELN, CFTR
40heparin46 30 25 1212.4BPI, SERPINA3, SERPINB1, ELN, ELANE, SERPINA1
41hyaluronic acid46 2510.3ELANE, PRTN3, ELN
42retinoic acid46 2510.3CFTR, BPI, ELN, ELANE, PRTN3, SERPINA3
43valine469.3HLA-DRB1, CFTR, SERPINA3, PRTN3, ELANE, ELN
44cysteine469.2SERPINA1, ELN, BPI, ELANE, SERPINA6, SERPINA3
45estrogen469.1ELANE, PRTN3, SERPINA6, CFTR, SERPINA3, SERPINA1
46alanine469.0HLA-DRB1, SERPINA3, SERPINA6, PRTN3, ELN, BPI
47lipid468.6PRTN3, SERPINA1, SERPINA6, CDIPT, OTC, BPI
48glucose468.6SERPINA6, SERPINA1, SERPINA2, SERPINA3, OTC, CDIPT
49calcium46 52 25 1210.4SERPINB1, SERPINA3, TMBIM4, ADRA1D, PRTN3, ELN
50serine467.0BPI, SERPINA6, SERPINB1, SERPINA3, SERPINA2, SEPSECS

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

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17Gene Ontology
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Cellular components related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.9SPINT2, SERPINA1, SERPINA2, SERPINA3, ELANE, ELN
2extracellular vesicular exosomeGO:0700628.3HLA-DRB1, SERPINA1, SERPINA3, SERPINB1, PRTN3, ELANE

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

idNameGO IDScoreTop Affiliating Genes
1respiratory gaseous exchangeGO:0075859.9CFTR, ELN
2regulation of proteolysisGO:0301628.7SERPINA2, SERPINA3, SERPINB1, SERPINA6, SERPINA1
3negative regulation of endopeptidase activityGO:0109518.7SERPINA1, SERPINA6, SERPINB1, SERPINA3, SERPINA2, SPINT2

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048678.8SERPINA6, SERPINB1, SERPINA3, SERPINA2, SERPINA1, SPINT2

Products for genes affiliated with Alpha 1-Antitrypsin Deficiency

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Sources for Alpha 1-Antitrypsin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet