AAT
MCID: ALP007
MIFTS: 62

Alpha 1-Antitrypsin Deficiency (AAT) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Alpha 1-Antitrypsin Deficiency

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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

MalaCards based summary: Alpha 1-Antitrypsin Deficiency, also known as inherited emphysema, is related to aneurysm and hepatitis, and has symptoms including 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 neutrophil.

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.

Description from OMIM:46 613490

GeneReviews summary for alpha1-a

Aliases & Classifications for Alpha 1-Antitrypsin Deficiency

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Alpha 1-Antitrypsin Deficiency, Aliases & Descriptions:

Name: Alpha 1-Antitrypsin Deficiency 30 8 65 42 10 44 62
Inherited Emphysema 65 21 62
Aat Deficiency 8 19 42
Aatd 19 42 21
Alpha-1 Antitrypsin Deficiency 19 21
Hereditary Pulmonary Emphysema 65 21
Alpha 1 Antitrypsin Deficiency 42 22
Alpha-1 Related Emphysema 65 21
Genetic Emphysema 65 21
 
A1at Deficiency 19 42
Aat 65 21
Pathological Accumulation of Air in Tissues 62
Alpha-1 Protease Inhibitor Deficiency 21
Emphysema, Hereditary Pulmonary 62
Alpha1-Antitrypsin Deficiency 20
Alpha-1 Proteinase Inhibitor 65
Alpha-1-Antitrypsin 9


Classifications:



External Ids:

Disease Ontology8 DOID:13372
NCIt39 C84397
SNOMED-CT57 154771007, 30188007
OMIM46 613490
ICD9CM27 273.4

Related Diseases for Alpha 1-Antitrypsin Deficiency

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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 206)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.3ELN, ELANE, SERPINA1
2hepatitis31.2SERPINA1, SEPSECS, OTC
3intracranial aneurysm31.1SERPINA1, ELANE, ELN
4pulmonary emphysema31.1SERPINA1, SERPINB1, ELANE, ELN
5glomerulonephritis31.0ELANE, PRTN3, SERPINB1
6galactosemia30.9SEPSECS, SERPINA1
7vasculitis30.9SERPINA1, SERPINB1, PRTN3, ELANE, BPI
8bronchitis30.8SERPINA1
9cutis laxa30.8ELANE, ELN
10abdominal aortic aneurysm30.7ELN, ELANE
11polyarteritis nodosa30.7PRTN3
12nephrotic syndrome30.7SERPINA6, SERPINA1, IGES
13viral hepatitis30.6SEPSECS, SERPINA1, HLA-DRB1
14primary biliary cirrhosis30.6HLA-DRB1, SEPSECS, PRTN3
15pancreatitis30.5ELANE, SERPINA1, CFTR, IGES
16wegener's granulomatosis30.5BPI, ELN, ELANE, PRTN3, SERPINB1, SERPINA1
17asthma30.4IGES, HLA-DRB1, SERPINA1, SERPINA3, PRTN3, ELANE
18bronchiectasis30.4IGES, CFTR, SERPINA1, SERPINA3, ELANE, BPI
19cerebral aneurysms30.4ELN, ELANE
20exocrine pancreatic insufficiency30.4CFTR, ELANE
21psoriasis30.4HLA-DRB1, SERPINA1, SERPINA3, SERPINB1, ELANE
22ankylosing spondylitis30.1SERPINA1, PRTN3
23tuberculosis30.0IGES, HLA-DRB1, SERPINA1, BPI
24liver cirrhosis29.9HLA-DRB1, SERPINA1, SEPSECS, SERPINA3, BPI, OTC
25chronic obstructive pulmonary disease29.9CFTR, SERPINA1, SERPINA3, SERPINB1, PRTN3, ELANE
26ulcerative colitis29.8HLA-DRB1, CFTR, SERPINA1, PRTN3, ELANE, BPI
27cystic fibrosis29.5IGES, CFTR, SERPINA1, SERPINA3, PRTN3, ELANE
28leukemia29.4HLA-DRB1, CFTR, SERPINA3, PRTN3, OTC
29rheumatoid arthritis29.0HLA-DRB1, CFTR, SERPINA1, SERPINA3, SERPINA6, PRTN3
30emphysema due to aat deficiency29.0OTC, CDIPT, ST6GAL2, ELANE, PRTN3, ADRA1D
31liver disease10.7
32panniculitis10.6
33conjunctivitis10.5IGES
34aspergillosis10.5ELANE
35impotence10.4ADRA1D
36ehlers-danlos syndrome10.4ELANE, ELN
37reactive arthritis10.4PRTN3, BPI
3821-hydroxylase deficiency10.3SERPINA3, SEPSECS
39acute promyelocytic leukemia10.3OTC, ELANE, PRTN3
40hemochromatosis10.3
41pneumothorax10.3
42biliary hypoplasia10.3
43fibromuscular dysplasia10.3
44spontaneous pneumothorax10.3
45pulmonary function10.3
46malaria10.3SERPINA3, HLA-DRB1
47adult respiratory distress syndrome10.3SERPINA1, ELANE, ELN
48polymyalgia rheumatica10.3HLA-DRB1, SERPINA3
49spiradenoma10.3SERPINA1, OTC
50splenic artery aneurysm10.3

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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Clinical features from OMIM:

613490

HPO human phenotypes related to Alpha 1-Antitrypsin Deficiency:

id Description Frequency HPO Source Accession
1 emphysema HP:0002097
2 chronic bronchitis HP:0004469
3 chronic obstructive pulmonary disease HP:0006510

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

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Drug clinical trials:

Search ClinicalTrials for Alpha 1-Antitrypsin Deficiency

Search NIH Clinical Center for Alpha 1-Antitrypsin Deficiency

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Alpha 1-Antitrypsin Deficiency

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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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MalaCards organs/tissues related to Alpha 1-Antitrypsin Deficiency:

32
Liver, Lung, Neutrophil, Heart, Testes

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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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Articles related to Alpha 1-Antitrypsin Deficiency:

(show top 50)    (show all 190)
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
Heterozygous alpha 1-antichymotrypsin and PiZ alpha 1-antitrypsin deficiency. Prevalence and clinical spectrum in asthmatic children. (2327559)
1990
45
Augmentation therapy of alpha 1-antitrypsin deficiency. (2340051)
1990
46
Pathogenesis of liver disease in alpha 1-antitrypsin deficiency]. (2092568)
1990
47
Alpha 1-antitrypsin deficiency and prune-belly syndrome--first report of coincidence. (2335908)
1990
48
"Classic" galactosemia associated with alpha 1-antitrypsin deficiency. (6605228)
1983
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
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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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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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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Compounds related to Alpha 1-Antitrypsin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1contrapsin4410.5SERPINA3, ELANE
2isodesmosine4410.4ELANE, ELN
3tannins4410.3ELANE, ELN
4saccharin44 211.3PRTN3, ELANE
5(4-aminophenyl)mercuric acetate4410.3ELANE, ELN
6chymostatin4410.3SERPINA3, ELANE
73,4-dichloroisocoumarin44 1111.3ELANE, PRTN3
8hocl4410.3ELANE, SERPINA1
9trichloroacetic acid4410.3CFTR, ELN
10thermolysin4410.3ELANE, ELN
11desmosine4410.2SERPINA1, ELN, ELANE
12propylthiouracil44 2 1112.2ELANE, PRTN3
13pmsf4410.1ELANE, PRTN3
14urea44 24 1112.1SERPINA3, BPI, OTC
15dermatan sulfate4410.1ELN, CFTR, ELANE
16hydrocortisone44 2 61 1113.0SERPINA6, ELN, ELANE
17ozone4410.0IGES, ELN
18benzamidine44 1111.0PRTN3, ELANE
19fibrinogen4410.0ELANE, SERPINA1, SERPINA3, ELN
20polysaccharide449.9SERPINA3, ELN, BPI, SERPINA1
21fmlp449.9ELANE, PRTN3, BPI, SERPINA3
22paraffin449.8ELN, SERPINA1, SERPINA3, CFTR
23carbohydrates449.8CFTR, ELN, SERPINA6
24hydralazine44 50 1111.8ELN, SERPINB1
25vitamin a44 24 1111.8SERPINA1, SERPINA3, SERPINA6, ELANE, ELN
26creatinine449.7OTC, SERPINA1, SERPINA3, ELN, BPI
27copper44 2410.7SERPINA1, SERPINA6, ELN
28lysine449.7HLA-DRB1, ELN, SERPINA1, OTC
29thyroxine44 2410.7SERPINA3, SERPINA6, ELANE
30diisopropylfluorophosphate449.7ELN, SERPINA1, SERPINA3, PRTN3, ELANE
31acetylcholine44 50 28 24 1113.7SERPINA3, CFTR, IGES, ELANE
32cyclosporin a44 28 6111.6ELANE, IGES, CFTR, SEPSECS
33arginine449.6SERPINA6, HLA-DRB1, ELN, OTC, SERPINA3
34oligonucleotide449.5SERPINA3, OTC, SERPINA2, SERPINA1, HLA-DRB1
35lactate449.5OTC, ELN, BPI, ELANE, IGES
36h2o2449.5CFTR, SERPINA1, SERPINB1, ELN, ELANE
37glutamate449.5ELN, OTC, HLA-DRB1, CFTR, ELANE
38superoxide44 2410.5SERPINA3, SERPINB1, PRTN3, ELANE
39testosterone44 61 24 1112.4SERPINA6, SERPINA2, ELANE, ELN, CFTR
40heparin44 28 24 1112.4BPI, SERPINA3, SERPINB1, ELN, ELANE, SERPINA1
41hyaluronic acid44 2410.3ELANE, PRTN3, ELN
42retinoic acid44 2410.3CFTR, BPI, ELN, ELANE, PRTN3, SERPINA3
43valine449.3HLA-DRB1, CFTR, SERPINA3, PRTN3, ELANE, ELN
44cysteine449.2SERPINA1, ELN, BPI, ELANE, SERPINA6, SERPINA3
45estrogen449.1ELANE, PRTN3, SERPINA6, CFTR, SERPINA3, SERPINA1
46alanine449.0HLA-DRB1, SERPINA3, SERPINA6, PRTN3, ELN, BPI
47lipid448.6PRTN3, SERPINA1, SERPINA6, CDIPT, OTC, BPI
48glucose448.6SERPINA6, SERPINA1, SERPINA2, SERPINA3, OTC, CDIPT
49calcium44 50 24 1110.4SERPINB1, SERPINA3, TMBIM4, ADRA1D, PRTN3, ELN
50serine447.0BPI, SERPINA6, SERPINB1, SERPINA3, SERPINA2, SEPSECS

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

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

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

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

idNameGO IDScoreTop Affiliating Genes
1respiratory gaseous exchangeGO:0075859.9ELN, CFTR
2regulation of proteolysisGO:0301628.7SERPINA1, SERPINA2, SERPINA3, SERPINB1, SERPINA6
3negative regulation of endopeptidase activityGO:0109518.7SERPINA6, SERPINB1, SERPINA3, SERPINA2, SERPINA1, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet