AAT
MCID: ALP007
MIFTS: 61

Alpha 1-Antitrypsin Deficiency (AAT) malady

Summaries for Alpha 1-Antitrypsin Deficiency

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

613490

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Alpha 1-Antitrypsin Deficiency:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Prevalence and radiological outcomes ofA lung nodules in alpha 1-antitrypsin deficiency. (23337299)
2013
2
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. (22016686)
2011
3
Exploring the optimum approach to the use of CT densitometry in a randomised placebo-controlled study of augmentation therapy in alpha 1-antitrypsin deficiency. (19678952)
2009
4
Liver disease in alpha 1-antitrypsin deficiency: a review. (18796107)
2008
5
Intravenous human plasma-derived augmentation therapy in alpha 1-antitrypsin deficiency: from pharmacokinetic analysis to individualizing therapy. (18413692)
2008
6
Low incidence of alpha 1-antitrypsin deficiency among Filipinos with neonatal cholestatis. (17044896)
2006
7
Mitochondrial autophagy and injury in the liver in alpha 1-antitrypsin deficiency. (14684378)
2004
8
Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants. (14767073)
2004
9
Panniculitis secondary to extravasation of clarithromycin in a patient with alpha 1-antitrypsin deficiency (phenotype PiZ). (12932253)
2003
10
Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease. (12689922)
2003
11
Epidemiology of emphysema in subjects with severe alpha 1-antitrypsin deficiency. (12064091)
2002
12
alpha 1-antitrypsin deficiency in a female with discoid lupus erythematosus. (12195581)
2002
13
Alpha 1-antitrypsin deficiency and related liver disease. (19864752)
1999
14
Alpha 1-antitrypsin deficiency. (10360092)
1999
15
Augmentation therapy for severe alpha 1-antitrypsin deficiency: is the jury still out on a trial? (10195068)
1998
16
Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. (9713452)
1998
17
Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. (9692092)
1998
18
Intermediate alpha 1-antitrypsin deficiency PiSZ: a risk factor for pulmonary emphysema? (9616519)
1998
19
Clinical features and natural history of severe alpha 1-antitrypsin deficiency. Roger S. Mitchell Lecture. (9184559)
1997
20
alpha 1-Antitrypsin (AAT) deficiency and ANCA-positive systemic vasculitis: genetic and clinical implications. (9279535)
1997
21
Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. (9041988)
1997
22
Alpha 1-antitrypsin deficiency in a child with X-linked lymphoproliferative disease. (9302936)
1997
23
Pathogenesis of hereditary emphysema and replacement therapy for alpha 1-antitrypsin deficiency. Insight into the more common forms of emphysema. (8989159)
1996
24
A 30-year perspective on alpha 1-antitrypsin deficiency. (8989157)
1996
25
Alpha 1-antitrypsin deficiency alleles and blood pressure in an Australian population. (8800597)
1996
26
Giant intracranial aneurysm and fibromuscular dysplasia in an adolescent with alpha 1-antitrypsin deficiency. (8751640)
1996
27
Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency. (7549305)
1995
28
The liver in adolescents with alpha 1-antitrypsin deficiency. (7635419)
1995
29
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
30
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. (7574835)
1995
31
Gene therapy for alpha 1-antitrypsin deficiency. (8541824)
1995
32
Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. (7785020)
1995
33
Enzyme-labelled oligonucleotides for the detection of alpha 1-antitrypsin deficiency: optimization of enzyme activity for single point mutation detection. (7762958)
1995
34
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
35
The SEC receptor: a possible link between neonatal hepatitis in alpha 1-antitrypsin deficiency and Alzheimer's disease. (7808820)
1994
36
Severe alpha 1-antitrypsin deficiency and intracranial aneurysms. (7909064)
1994
37
Airways obstruction and two year survival in patients with severe alpha 1-antitrypsin deficiency. (7875269)
1994
38
Causes of liver disease in an adult population with heterozygous and homozygous alpha 1-antitrypsin deficiency. (8032113)
1994
39
PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. (8358043)
1993
40
The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. (8441253)
1993
41
Europium-labeled oligonucleotides to detect point mutations: application to PIZ alpha 1-antitrypsin deficiency. (8353948)
1993
42
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant P- Duarte. (8364590)
1993
43
Nonsmoking, non-alpha 1-antitrypsin deficiency-induced emphysema in nonsmokers with healed spontaneous pneumothorax, identified by computed tomography of the lungs. (8432133)
1993
44
Molecular biology and genetics of alpha 1-antitrypsin deficiency. (1439881)
1992
45
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. (1569192)
1992
46
Alpha 1-antitrypsin W-Bethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant. (2390072)
1990
47
Strategies for aerosol therapy of alpha 1-antitrypsin deficiency by the aerosol route. (2117165)
1990
48
In-frame single codon deletion in the M-Malton deficiency allele of alpha 1-antitrypsin. (2786335)
1989
49
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. (2989709)
1985
50
Alpha 1-antitrypsin deficiency and pulmonary emphysema. (6601647)
1983

Genetic Variations for Alpha 1-Antitrypsin Deficiency

About this section

Expression for genes affiliated with Alpha 1-Antitrypsin Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 2BitterDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
See all sources

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

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

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

About this section
Sources:
16Gene Ontology
See all sources

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

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

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:03016210.0SERPINA2P, SERPINA6, SERPINI1, SERPINB1, SERPINA3, SERPINA1
3negative regulation of endopeptidase activityGO:0109519.8SERPINA1, SERPINA3, SERPINB1, SERPINI1, SERPINA6, SERPINA2P

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha 1-Antitrypsin Deficiency

About this section
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