Alpha-1-Antitrypsin Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

A1ATD MCID: ALP103 MIFTS: 70	Alpha-1-Antitrypsin Deficiency (A1ATD) Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Alpha-1-Antitrypsin Deficiency

MalaCards integrated aliases for Alpha-1-Antitrypsin Deficiency:

Name: Alpha-1-Antitrypsin Deficiency ⁵⁷ ⁵⁸ ⁷³ ²⁸ ⁵ ³⁶ ³⁸ ³³

Alpha 1-Antitrypsin Deficiency ¹¹ ⁷⁵ ⁵³ ⁴³ ¹⁴ ⁷¹

Alpha-1 Antitrypsin Deficiency ²⁴ ¹⁹ ⁴² ⁴¹ ⁶³ ⁷⁵

Aat Deficiency ¹¹ ²⁴ ¹⁹

Aatd ²⁴ ¹⁹ ⁴²

Emphysema Due to Aat Deficiency ⁵⁷ ¹²

A1at Deficiency ²⁴ ¹⁹

A1atd ⁵⁷ ⁷³

Hemorrhagic Diathesis Due to Antithrombin Pittsburgh ⁵⁷

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive ⁷¹

Emphysema-Cirrhosis, Due to Aat Deficiency ⁵⁷

Alpha-1-Proteinase Inhibitor Deficiency ⁵⁸

Aatd - [alpha-1-Antitrypsin] Deficiency ³³

Alpha-1 Protease Inhibitor Deficiency ⁴²

Emphysema, Hereditary Pulmonary ⁷¹

Alpha-1 Antiprotease Deficiency ²⁴

Alpha 1 Antitrypsin Deficiency ¹⁹

Hereditary Pulmonary Emphysema ⁴²

Alpha1-Antitrypsin Deficiency ⁵⁸

Alpha-1 Related Emphysema ⁴²

Inherited Emphysema ⁴²

Genetic Emphysema ⁴²

Aat ⁴²

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸ ⁵⁷

Prevelance:

1-5/10000 (Ireland, Europe, Germany, United States, Specific population) 6-9/10000 (Sweden) ⁵⁸

Age Of Onset:

All ages ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
z allele most common, only in caucasians
secondary prevention, avoid smoking, alcohol, and oxidants

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Liver diseases Nephrological diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Disorders of plasma-protein metabolism, not elsewhere classified

ICD11: ³³

Endocrine, nutritional or metabolic diseases

Metabolic disorders

Inborn errors of metabolism

Alpha-1-antitrypsin deficiency

Orphanet: ⁵⁸

Rare hepatic diseases

Rare renal diseases

Rare respiratory diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹¹ DOID:13372

OMIM® ⁵⁷ 613490

ICD9CM ³⁴ 273.4

MeSH ⁴³ D019896

NCIt ⁴⁹ C84397

SNOMED-CT ⁶⁸ 30188007

MESH via Orphanet ⁴⁴ C531610 D019896

ICD10 via Orphanet ³² E88.0

UMLS via Orphanet ⁷² C0221757 C3501835

Orphanet ⁵⁸ ORPHA60

MedGen ⁴⁰ C0221757

ICD11 ³³ 824872160

UMLS ⁷¹ C0221757 C1851718 C3501835

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Summaries for Alpha-1-Antitrypsin Deficiency

MedlinePlus Genetics: ⁴² 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.People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 25 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, and fatigue. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Signs of cirrhosis include a swollen abdomen and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma.In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.

MalaCards based summary: Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to pulmonary disease, chronic obstructive and pulmonary emphysema, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Alpha-1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Pharmaceutical Solutions and Dimercaprol have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and skin, and related phenotypes are emphysema and hepatic failure

GARD: ¹⁹ Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Lung (pulmonary) problems almost always occur in adults, whereas liver and skin problems may occur in adults and children. Symptoms may include shortness of breath and wheezing, repeated infections of the lungs and liver, yellow skin, feeling overly tired (fatigue), rapid heartbeat when standing, vision problems, and weight loss. However, some people with AATD do not have any problems. AATD is caused by genetic changes (pathogenic variants) in the SERPINA1 gene and is inherited in a codominant manner. The genetic changes cause too little or no working alpha-1 antitrypsin protein (AAT) to be made. AAT is made in the liver cells and sent through the bloodstream to the lungs where it helps protect the lungs from damage. Having low levels of AAT (or no AAT) may lead the lungs to become damaged. A build-up of abnormal AAT may cause liver damage. Diagnosis may be suspected by finding low levels of AAT in the blood and confirmed by genetic testing.

PubMed Health : ⁶³ Alpha-1 antitrypsin deficiency: Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases. Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)—often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe. A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases. Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood. A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin. This article focuses on AAT deficiency as it relates to lung disease.

MedlinePlus: ⁴¹ 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

OMIM®: ⁵⁷ Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age (Crystal, 1990). (613490) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.

Orphanet: ⁵⁸ A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.

Disease Ontology: ¹¹ 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.

Wikipedia: ⁷⁵ Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or... more...

GeneReviews: NBK1519

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Related Diseases for Alpha-1-Antitrypsin Deficiency

Diseases related to Alpha-1-Antitrypsin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 877)

#	Related Disease	Score	Top Affiliating Genes
1	pulmonary disease, chronic obstructive	31.8	TNF SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3
2	pulmonary emphysema	31.5	SLPI SERPINB1 SERPINA3 SERPINA1 MMP12 ELN
3	lung disease	31.4	TNF SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3
4	pneumothorax	31.4	SERPINB1 SERPINA1 ELN
5	vasculitis	31.2	TNF SERPINB1 SERPINA3 SERPINA1 PRTN3 ELANE
6	bronchiectasis	31.1	TNF SLPI SERPINA3 SERPINA1 ELN ELANE
7	polyarteritis nodosa	31.1	TNF PRTN3 GPT
8	glomerulonephritis	31.1	TNF PRTN3 ELANE ALB
9	liver disease	30.9	TNF SLPI SERPINA3 SERPINA1 HFE GPT
10	vitamin k deficiency bleeding	30.9	SERPINC1 F2 AFP
11	granulomatosis with polyangiitis	30.9	TNF SERPINB1 SERPINA1 PRTN3 ELN ELANE
12	bronchitis	30.9	TNF SLPI SERPINB1 SERPINA1 MMP12 ELANE
13	biliary atresia	30.9	GPT F2 CXCL8 ALB
14	sarcoidosis 1	30.9	TNF SERPINA3 PRTN3 ALB
15	liver cirrhosis	30.8	TNF SERPINC1 SERPINA3 SERPINA1 HFE GPT
16	diverticulitis	30.8	TNF SERPINA1 ALB
17	proteasome-associated autoinflammatory syndrome 1	30.8	TNF ELANE CXCL8 ALB
18	chronic asthma	30.8	TNF SERPINA3 CXCL8
19	periodontitis	30.7	TNF SERPINA3 ELANE CXCL8
20	inherited metabolic disorder	30.7	TNF SERPINA3 GPT ALB
21	pulmonary embolism	30.7	SERPINC1 F2 ALB
22	autoimmune hepatitis	30.7	TNF GPT F2 ALB
23	siderosis	30.7	SERPINA3 SERPINA1 HFE GPT
24	portal hypertension	30.7	TNF GPT F2 ELN ALB AFP
25	aortic dissection	30.6	TNF MMP12 ELN ELANE ALB
26	non-alcoholic steatohepatitis	30.6	TNF GPT ALB AFP
27	neutrophilic dermatosis, acute febrile	30.6	TNF SERPINA3 CXCL8
28	anterior uveitis	30.6	TNF SERPINA3 CXCL8
29	exocrine pancreatic insufficiency	30.6	TNF ELANE CFTR
30	asthma	30.5	TNF SERPINA3 SERPINA1 PRTN3 MMP12 ELANE
31	hepatitis	30.5	TNF SERPINA1 GPT F2 AFP
32	crohn's disease	30.5	TNF SERPINA3 CXCL8 ALB
33	wilson disease	30.5	SERPINA1 HFE GPT F2 ALB
34	psoriasis	30.5	TNF SLPI SERPINB1 SERPINA3 ELANE CXCL8
35	dermatitis herpetiformis	30.5	TNF MMP12 CXCL8
36	pancreatitis	30.5	TNF SERPINA3 SERPINA1 ELANE CXCL8 CFTR
37	hepatic encephalopathy	30.5	TNF GPT F2 ALB
38	acute pancreatitis	30.5	TNF GPT ELANE CXCL8 CFTR
39	fibromyalgia	30.5	TNF SERPINA1 CXCL8
40	bronchial disease	30.5	TNF SERPINA3 ELANE CXCL8 ALB
41	churg-strauss syndrome	30.5	TNF PRTN3 CXCL8
42	aortic aneurysm, familial abdominal, 1	30.5	TNF SERPINA3 MMP12 ELN ELANE CXCL8
43	fatty liver disease	30.5	TNF HFE GPT AFP
44	hepatitis c	30.5	HFE GPT F2 AFP
45	nephrotic syndrome	30.5	TNF SERPINC1 SERPINA1 F2 ALB
46	apnea, obstructive sleep	30.5	TNF GPT CXCL8 ALB
47	encephalopathy, familial, with neuroserpin inclusion bodies	30.5	SERPINI1 SERPINC1 SERPINA3 SERPINA1
48	aortic aneurysm	30.4	TNF MMP12 F2 ELN ELANE CXCL8
49	toxic shock syndrome	30.4	TNF SERPINC1 CXCL8
50	obstructive jaundice	30.4	SERPINA3 GPT F2 ALB AFP

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

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Symptoms & Phenotypes for Alpha-1-Antitrypsin Deficiency

Human phenotypes related to Alpha-1-Antitrypsin Deficiency:

⁵⁸ ³⁰ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	emphysema ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002097
2	hepatic failure ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001399
3	hepatomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002240
4	hepatitis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012115
5	jaundice ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000952
6	nephrotic syndrome ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000100
7	splenomegaly ³⁰	Very rare (1%)		HP:0001744
8	cirrhosis ³⁰	Very rare (1%)		HP:0001394
9	bronchiectasis ³⁰	Very rare (1%)		HP:0002110
10	hemoptysis ³⁰	Very rare (1%)		HP:0002105
11	dyspnea ³⁰	Very rare (1%)		HP:0002094
12	cough ³⁰	Very rare (1%)		HP:0012735
13	wheezing ³⁰	Very rare (1%)		HP:0030828
14	chronic bronchitis ³⁰	Very rare (1%)		HP:0004469
15	gastric varix ³⁰	Very rare (1%)		HP:0030169
16	reduced serum alpha-1-antitrypsin ³⁰	Very rare (1%)		HP:0032025
17	increased sputum production ³⁰	Very rare (1%)		HP:0033709
18	elevated hepatic transaminase ³⁰			HP:0002910
19	hepatocellular carcinoma ³⁰			HP:0001402
20	chronic pulmonary obstruction ³⁰			HP:0006510
21	panacinar emphysema ³⁰			HP:0032967

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Respiratory Lung:
chronic obstructive pulmonary disease
alveolar wall destruction
emphysema especially at bases

Respiratory:
dyspnea (onset 35 years in smokers, 45 years in nonsmokers)

Neoplasia:
increased hepatocellular carcinoma risk

Abdomen Liver:
abnormal liver function tests
hepatic intracellular inclusions in zz homozygotes
infantile liver abnormalities in <20% with deficiency
cirrhosis (rare)

Respiratory Airways:
small airways

Laboratory Abnormalities:
serum alpha-1-antitrypsin (pi) deficiency
abnormal liver function tests (sgot, sgpt)

Clinical features from OMIM®:

613490 (Updated 08-Dec-2022)

UMLS symptoms related to Alpha-1-Antitrypsin Deficiency:

hemoptysis; snoring; coughing

GenomeRNAi Phenotypes related to Alpha-1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.23	AFP ALB CXCL8 HFE PRTN3 SERPINC1

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.83	AFP ALB CDIPT CFTR ELANE ELN
2	immune system	MP:0005387	9.4	ALB CFTR ELANE F2 HFE MMP12

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Drugs & Therapeutics for Alpha-1-Antitrypsin Deficiency

PubMed Health treatment related to Alpha-1-Antitrypsin Deficiency: ⁶³

Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments . Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease ). If you have symptoms related to AAT deficiency , your doctor may recommend: Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD. Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs . Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best. Extra oxygen , if needed. A lung transplant . A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery , you may be a candidate for it. Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases . This therapy involves getting infusions of the AAT protein . The infusions raise the level of the protein in your blood and lungs . Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease. People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases.

Drugs for Alpha-1-Antitrypsin Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pharmaceutical Solutions

Phase 4

Dimercaprol

Approved

Phase 3

59-52-9

3080

Protein C

Approved

Phase 2, Phase 3

Acetylsalicylic acid

Approved, Vet_approved

Phase 2

50-78-2

2244

Histamine

Approved, Investigational

Phase 2

51-45-6

774

Hyaluronic acid

Approved, Vet_approved

Phase 2

9004-61-9

53477741

Carbamazepine

Approved, Investigational

Phase 2

298-46-4

2554

Butyric Acid

Experimental, Investigational

Phase 2

107-92-6

264

Antirheumatic Agents

Phase 2

Fibrinolytic Agents

Phase 2

Antipyretics

Phase 2

Cyclooxygenase Inhibitors

Phase 2

Platelet Aggregation Inhibitors

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Neurotransmitter Agents

Phase 2

Histamine phosphate

Phase 2

51-74-1

134614

Histamine Antagonists

Phase 2

4-phenylbutyric acid

Phase 2

Adjuvants, Immunologic

Phase 2

Viscosupplements

Phase 2

Immunologic Factors

Phase 2

Analgesics

Phase 2

Analgesics, Non-Narcotic

Phase 2

Sodium Channel Blockers

Phase 2

Psychotropic Drugs

Phase 2

Anticonvulsants

Phase 2

Diuretics, Potassium Sparing

Phase 2

Diphenhydramine

Approved, Investigational

Phase 1

147-24-0, 58-73-1

3100

Promethazine

Approved, Investigational

Phase 1

60-87-7

4927

Anti-Allergic Agents

Phase 1

Anesthetics, Local

Phase 1

Anesthetics

Phase 1

Hypnotics and Sedatives

Phase 1

Histamine H1 Antagonists

Phase 1

Dermatologic Agents

Phase 1

Phylloquinone

Approved, Investigational

84-80-0

5284607

Nitric Oxide

Approved

10102-43-9

145068

Lorazepam

Approved

846-49-1

3958

Lidocaine

Approved, Vet_approved

137-58-6

3676

Acetaminophen

Approved

103-90-2

1983

Ondansetron

Approved, Withdrawn

99614-02-5

4595

Fentanyl

Approved, Illicit, Investigational, Vet_approved

437-38-7

3345

Hydrocodone

Approved, Illicit, Investigational

125-29-1

5284569

Oxycodone

Approved, Illicit, Investigational

76-42-6

5284603

Midazolam

Approved, Illicit

59467-70-8

4192

Salbutamol

Approved, Vet_approved

18559-94-9

2083

Procaterol

Approved, Investigational

72332-33-3

688561 4916

Menadione

Approved, Nutraceutical

58-27-5

4055

Menaquinone

Investigational

1182-68-9

Xenon

Experimental

7440-63-3

Interventional clinical trials:

(show top 50) (show all 113)

#	Name	Status	NCT ID	Phase	Drugs
1	The Effect of Augmentation Therapy With ARALAST Fraction IV-1 (ARALAST) Alpha1-Proteinase Inhibitor (α1-PI) on the Level of α1-PI and Other Analytes in the Bronchoalveolar (BAL) Epithelial Lining Fluid (ELF)	Completed	NCT00396006	Phase 4
2	An Open-label, Non-controlled, Multicenter, Multinational Study to Evaluate the Efficacy and Safety of Zemaira® Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency Who Completed Clinical Study CE1226_4001	Completed	NCT00670007	Phase 4
3	A Phase 4 Double-Blind Study to Assess the Safety and Tolerability of Intravenous Administration of GLASSIA in Healthy Adult Volunteers	Completed	NCT01651351	Phase 4
4	A Randomized, Placebo-Controlled, Double-Blind, Multicenter Phase III/IV Study to Compare the Efficacy and Safety of 60mg/kg Body Weight of Zemaira® Weekly I.V. Administration With Placebo Weekly I.V. Administration in Chronic Augmentation and Maintenance Therapy in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency	Completed	NCT00261833	Phase 4
5	Randomized, Open-label, Parallel-group, Multicenter, Non-inferiority and Dose-response Study to Evaluate the Efficacy and Safety of RYMPHYSIA (ARALAST NP) for Alpha1-Proteinase Inhibitor (A1PI) Augmentation Therapy in Subjects With A1PI Deficiency and Chronic Obstructive Pulmonary Disease-Emphysema	Not yet recruiting	NCT05466747	Phase 4
6	ARALAST alpha1-proteinase Inhibitor (α1-PI) Surveillance Study	Terminated	NCT00313144	Phase 4	ARALAST Alpha1-Proteinase Inhibitor
7	A Prospective, Randomized, Double-Blind, Parallel Group Study to Evaluate the Safety and Efficacy of ARALAST NP 60 mg/kg and 120 mg/kg for Alpha-1 Proteinase Inhibitor (A1PI) Augmentation Therapy in Subjects With A1PI Deficiency and Chronic Obstructive Pulmonary Disease-Emphysema (COPD-E)	Withdrawn	NCT04440488	Phase 4
8	Randomized Double-Blind Comparison of an Alpha-1 Proteinase Inhibitor (Kamada API) With a Currently Marketed API Product in Individuals With Alpha-1 Antitrypsin Deficiency	Completed	NCT00460096	Phase 2, Phase 3	Kamada-API
9	Multi-center, Open-label Trial to Evaluate the Safety and Tolerability of Alpha-1 MP in Subjects With Alpha-1-antitrypsin (AAT) Deficiency	Completed	NCT00301366	Phase 3	alpha-1 proteinase inhibitor (human)
10	Multi-center, Randomized, Double-blind, Crossover Trial to Evaluate the Pharmacokinetic Comparability of Alpha-1 MP to Prolastin in Subjects With Alpha1-antitrypsin Deficiency.	Completed	NCT00295061	Phase 3	Alpha-1 MP;alpha-1 proteinase inhibitor (human)
11	A Multi-center, Randomized, Double-blind, Crossover Study to Assess the Safety and Pharmacokinetics of Liquid Alpha₁-Proteinase Inhibitor (Human) Compared to Prolastin®-C in Subjects With Alpha₁-Antitrypsin Deficiency	Completed	NCT02282527	Phase 2, Phase 3
12	A Phase 3/4 Study to Evaluate the Safety, Immunogenicity, and Effects on the Alpha1-Proteinase Inhibitor (A1PI) Levels in Epithelial Lining Fluid Following Glassia Therapy in A1PI-Deficient Subjects	Completed	NCT02525861	Phase 3
13	A Phase II/III, Double-Blind, Randomized, Placebo-Controlled, Multicenter, International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With Emphysema	Completed	NCT01217671	Phase 2, Phase 3
14	A Prospective Phase III Multi-center, Placebo Controlled, Double Blind Study to Evaluate the Efficacy and Safety of "Kamada-AAT for Inhalation" 80 mg Per Day in Adult Patients With Congenital Alpha-1 Antitrypsin Deficiency With Moderate and Severe Airflow Limitation (40% ≤ FEV1 ≤ 80% of Predicted; FEV1/SVC ≤ 70%)	Recruiting	NCT04204252	Phase 3	Alpha 1-Antitrypsin;Placebo
15	A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of Two Dose Regimens (60 mg/kg and 120 mg/kg) of Weekly Intravenous Alpha1 Proteinase Inhibitor (Human) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency	Recruiting	NCT01983241	Phase 3
16	A Phase 2/3, Multicenter, randOmized, Double-blind, Placebo-controlled, stUdy to evaLuate the Safety and Efficacy of Alpha-1 AntiTrypsin for the prEvention of Graft Versus-host Disease in Patients Receiving Hematopoietic Cell Transplant (MODULAATE Study)	Recruiting	NCT03805789	Phase 2, Phase 3
17	An Open-Label, Multicenter Study to Evaluate the Long-term Safety of Weekly Intravenous Alpha1-Proteinase Inhibitor (Human), Modified Process 60 mg/kg in Subjects With Pulmonary Emphysema Due to Alpha1-Antitrypsin Deficiency	Enrolling by invitation	NCT02796937	Phase 3
18	A Stage 1, Prospective, Randomized, Placebo-Controlled, Double- Blind Study to Evaluate the Safety and Efficacy of Alpha1-Proteinase Inhibitor (A1PI) Augmentation Therapy in Subjects With A1PI Deficiency and Chronic Obstructive Pulmonary Disease (COPD)	Terminated	NCT02722304	Phase 3
19	Single Dose Administration of Alpha-1 Anti-Trypsin for the Amelioration of Organ Injury and Post Operative Bleeding in Patients Undergoing Cardiac Surgery With Cardiopulmonary Bypass: Double-blind, Placebo-controlled Pilot Study	Unknown status	NCT02191839	Phase 1, Phase 2	Alpha 1-Antitrypsin
20	Phase II, Double-Blind, Placebo-Controlled Study to Explore the ELF and Plasma Concentration as Well as Safety of Inhaled Alpha-1 Antitrypsin in Alpha-1 Antitrypsin Deficiency Subjects	Completed	NCT02001688	Phase 2	Kamada-AAT for Inhalation, 80mg;Placebo;Kamada-AAT for Inhalation, 160mg
21	Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency	Completed	NCT03008915	Phase 2	Aspirin;Placebo
22	A Multiple-Site, Phase 2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Alpha-1 Antitrypsin (rAAV1-CB-hAAT) in Patients With Alpha-1 Antitrypsin Deficiency	Completed	NCT01054339	Phase 2	rAAV1-CB-hAAT
23	Multi-center, Randomized Trial With I.V. Prolastin® to Evaluate Frequency of Exacerbations and Progression of Emphysema by Means of Multi-slice CT Scans in Patients With Congenital Alpha-1-antitrypsin Deficiency.	Completed	NCT00263887	Phase 2	Alpha1-Proteinase Inhibitor (Human);Albumin (Human) 20%, United States Pharmacopeia (USP)
24	Effect of a Higher Dose of Alpha-1 Antitrypsin Augmentation Therapy on Lung Inflammation in Subjects With Alpha-1 Antitrypsin Deficiency.	Completed	NCT01669421	Phase 2	Alpha-1 Antitrypsin (human)
25	"4 Phenyl Butyrate Mediated Secretion Rescue in Alpha 1-Antitrypsin Deficient Individuals"	Completed	NCT00067756	Phase 2	4-PBA
26	Phase 2 Randomized Parallel-Group Double-Blind Placebo-Controlled Multiple-Dose Proof-of-Concept Study to Evaluate the Efficacy/Safety of Hyaluronic Acid Inhalation Solution for Treatment of Emphysema	Completed	NCT03114020	Phase 2	Hyaluronic Acid Inhalation Solution;Placebo Inhalation Solution
27	A Phase 2, Proof-of-concept, Multicentre, Double-blind, Randomised, Dose-ascending, Sequential Group, Placebo-controlled Study to Evaluate the Mechanistic Effect, Safety, and Tolerability of 12 Weeks Twice Daily Oral Administration of Alvelestat (MPH966) in Participants With Alpha-1 Antitrypsin Deficiency.	Completed	NCT03636347	Phase 2	Placebo Oral Tablet;Alvelestat oral tablet - dose 1;Alvelestat oral tablet - dose 2
28	Phase 1/2 Study of Intravenous or Intrapleural Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Alpha-1 Antitrypsin cDNA to Individuals With Alpha-1 Antitrypsin Deficiency	Completed	NCT02168686	Phase 1, Phase 2
29	A Randomized Double-blind Crossover Study to Assess the Safety and Pharmacokinetics of Two Different Doses of Weekly Intravenous Administration of Alpha1-Proteinase Inhibitor (Human) Prolastin®-C in Subjects With Alpha1-Antitrypsin Deficiency	Completed	NCT01213043	Phase 2
30	Alpha-1 Anti-Trypsin (AAT) to Quench the Acute Inflammatory Response in ST-segment Elevation Acute Myocardial Infarction	Completed	NCT01936896	Phase 1, Phase 2	Alpha 1-Antitrypsin
31	A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host Disease	Completed	NCT01700036	Phase 2	Alpha-1-Antitrypsin (AAT)
32	Double-Blind, Randomized, Placebo-Controlled, Phase II Study of the Safety and Efficacy of Inhaled Alpha-1 Antitrypsin (AAT ) in Cystic Fibrosis Patients	Completed	NCT00499837	Phase 2	Aerosolized, human, plasma-derived Alpha-1 Antitrypsin
33	A Phase 2, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of VX-864 in PiZZ Subjects	Completed	NCT04474197	Phase 2	VX-864;Placebo
34	A Phase 1B/2A Study to Evaluate the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin Deficiency	Completed	NCT00157092	Phase 1, Phase 2	Aerosolized, Recombinant Alpha 1-Antitrypsin
35	Phase I Safety Investigation of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin Deficiency	Completed	NCT00161707	Phase 1, Phase 2	Aerosolized, Recombinant Alpha 1-Antitrypsin
36	Open Label, Proof of Concept, Phase I/II Study of the Safety, Tolerability and Efficacy of Intravenous Alpha-1 Antitrypsin (AAT) [Trade Name Glassia™] in Type 1 Diabetes Mellitus	Completed	NCT01304537	Phase 1, Phase 2	Alpha-1 Antitrypsin 40mg (AAT, Glassia®);Alpha-1 Antitrypsin 60mg (AAT, Glassia®);Alpha-1 Antitrypsin 80mg (AAT, Glassia®)
37	A Multi-Center, Open-Label Study to Evaluate the Long-term Safety of Weekly Intravenous Infusions of Alpha1-Proteinase Inhibitor (Human) in Japanese Subjects With Alpha1 Antitrypsin Deficiency	Completed	NCT02870348	Phase 1, Phase 2
38	Phase I/II Multicenter, Open-label Trial to Evaluate the Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency	Completed	NCT02870309	Phase 1, Phase 2
39	A Proof of Concept Pilot Trial of Alpha-1-Antitrypsin for Pre-Emption Of Steroid-Refractory Acute GVHD	Completed	NCT03459040	Phase 2	Alpha 1-Antitrypsin
40	A Phase 2, Randomized, Double-blind, Placebo-Controlled Study Investigating Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Two Dose Levels of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease	Recruiting	NCT04764448	Phase 2	Belcesiran
41	A First in Class Disease Modifying Therapy to Treat Alpha-1 Antitrypsin Deficiency a Genetically Linked Orphan Disease	Recruiting	NCT03679598	Phase 2	Alvelestat (MPH966)
42	A Multi-Center, Single-Dose and Repeat-Dose Over Eight Weeks, Sequential Cohort Study to Evaluate Safety and Tolerability as Well as Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% Administered Subcutaneously in Subjects With Alpha1-Antitrypsin Deficiency	Recruiting	NCT04722887	Phase 1, Phase 2
43	A Pilot Open Label, Multi-dose, Phase 2 Study to Assess the Safety and Efficacy of ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)	Active, not recruiting	NCT03946449	Phase 2	ARO-AAT Injection
44	A Placebo-Controlled, Multi-dose, Phase 2 Study to Determine the Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency (AATD) [SEQUOIA]	Active, not recruiting	NCT03945292	Phase 2	Fazisiran Injection
45	Alpha-1 Antitrypsin (AAT) Enhances Islet Autograft Survival	Active, not recruiting	NCT02947087	Phase 1, Phase 2	Prolastin-C;Placebo
46	A Phase 2, Open-label Study Evaluating Efficacy and Safety of VX-864 in Subjects With Alpha-1 Antitrypsin Deficiency Who Have the PiZZ Genotype, Over 48 Weeks	Not yet recruiting	NCT05643495	Phase 2	VX-864
47	A Phase 2, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of VX-814 in PiZZ Subjects	Terminated	NCT04167345	Phase 2	VX-814;Placebo
48	A Phase 1/2, Randomized, Double-blind, Placebo-controlled, Single-ascending and Multiple-dose, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN-AAT02 in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease	Terminated	NCT03767829	Phase 1, Phase 2	ALN-AAT02;Placebo
49	A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency	Terminated	NCT01379469	Phase 2	Drug-Carbamazepine (Tegretol XR);Carbamazepine (Tegretol XR) Placebo
50	A Multicenter, Randomized, Partial-Blinded, Placebo-Controlled Study to Evaluate the Safety and Efficacy of a Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus	Terminated	NCT02093221	Phase 2

Search NIH Clinical Center for Alpha-1-Antitrypsin Deficiency

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

alpha 1-proteinase inhibitor, human

Cochrane evidence based reviews: alpha 1-antitrypsin deficiency

Sources

Genetic Tests for Alpha-1-Antitrypsin Deficiency

Genetic tests related to Alpha-1-Antitrypsin Deficiency:

#	Genetic test	Affiliating Genes
1	Alpha-1-Antitrypsin Deficiency ²⁸	SERPINA1

Sources

Anatomical Context for Alpha-1-Antitrypsin Deficiency

Organs/tissues related to Alpha-1-Antitrypsin Deficiency:

MalaCards : Liver, Lung, Skin, Heart, Bone Marrow, Neutrophil, Bone

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alpha-1-Antitrypsin Deficiency:

#	Tissue Anatomical CompartmentCell	Relevance
1	Liver Liver Lobule Hepatocytes	Affected by disease, potential therapeutic candidate

Sources

Publications for Alpha-1-Antitrypsin Deficiency

Articles related to Alpha-1-Antitrypsin Deficiency:

(show top 50) (show all 3722)

#	Title	Authors	PMID	Year
1	Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion. ⁶² ⁵⁷ ⁵	Curiel DT...Crystal RG	2567291	1989
2	Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. ⁶² ⁵⁷ ⁵	Bamforth FJ...Kalsheker NA	2831367	1988
3	alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. ⁶² ⁵⁷ ⁵	Kidd VJ...Woo SL	6306478	1983
4	α1-Antitrypsin deficiency. ⁶² ²⁴ ⁵	Greene CM...McElvaney NG	27465791	2016
5	PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD. ⁶² ²⁴ ⁵	Green CE...Turner AM	26141072	2015
6	α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. ⁶² ²⁴ ⁵	Bornhorst JA...Grenache DG	23632999	2013
7	An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. ⁵⁷ ⁵	Lazarin GA...Srinivasan BS	22975760	2013
8	Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. ⁶² ²⁴ ⁵	Donato LJ...Snyder MR	22912357	2012
9	Serum levels and genotype distribution of α1-antitrypsin in the general population. ⁶² ²⁴ ⁵	Ferrarotti I...Luisetti M	22426792	2012
10	Alpha1-antitrypsin deficiency. ⁶² ²⁴ ⁵	Stoller JK...Aboussouan LS	15978931	2005
11	American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. ⁶² ²⁴ ⁵	American Thoracic Society...European Respiratory Society	14522813	2003
12	alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G-->A transition in position +1 of intron IC affecting normal mRNA splicing. ⁵⁷ ⁵	Seixas S...Rocha J	12220457	2002
13	Alpha1-antitrypsin deficiency--a model for conformational diseases. ⁶² ²⁴ ⁵⁷	Carrell RW...Lomas DA	11778003	2002
14	The mechanism of Z alpha 1-antitrypsin accumulation in the liver. ⁵⁷ ⁵	Lomas DA...Carrell RW	1608473	1992
15	Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. ⁶² ²⁴ ⁵	Brantly ML...Crystal RG	1889260	1991
16	Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). ⁶² ²⁴ ⁵	Graham A...Markham AF	2606478	1989
17	Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model. ⁵⁷ ⁵	Dycaico MJ...Jirik FR	3264419	1988
18	alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. ⁵⁷ ⁵	Nukiwa T...Crystal RG	3040726	1987
19	Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. ⁵⁷ ⁵	Nukiwa T...Crystal RG	3484754	1986
20	Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. ⁵⁷ ⁵	Long GL...Kurachi K	6093867	1984
21	Risk for liver disease in adults with alpha 1-antitrypsin deficiency. ⁶² ²⁴ ⁵⁷	Cox DW...Smyth S	6600583	1983
22	Prevalence of α1-antitrypsin deficiency alleles PIS and PIZ worldwide and effective screening for each of the five phenotypic classes PIMS, PIMZ, PISS, PISZ, and PI*ZZ: a comprehensive review. ²⁴ ⁵	de Serres FJ...Blanco I	22933512	2012
23	The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. ⁶² ⁵	Tejwani V...Stoller JK	34408829	2021
24	Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency? ⁶² ⁵	Patel D...Teckman J	34408828	2021
25	SERPINA1 gene polymorphisms in a population-based ALSPAC cohort. ⁶² ⁵	DeLuca DS...Valiulis A	31298815	2019
26	Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease. ⁶² ⁵	Schaefer B...Zoller H	29573137	2018
27	The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals. ⁶² ⁵	Dunlea DM...Reeves EP	29618937	2018
28	Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD. ⁶² ⁵	Zhumagaliyeva A...Ferrarotti I	29090095	2017
29	[Alpha-1 antitrypsin deficiency caused by Null mutation]. ⁶² ⁵	Perrin J...Chabot F	26604020	2016
30	Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. ⁶² ⁵	Silva D...Seixas S	27296815	2016
31	A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. ⁶² ⁵	North TL...Day IN	26831755	2016
32	Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders. ⁶² ⁵	Duk K...Chorostowska-Wynimko J	26987331	2016
33	SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis. ⁶² ⁵	Graham RP...Highsmith WE	26321041	2015
34	Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. ⁶² ⁵	Setoh K...Matsuda F	26174136	2015
35	Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. ⁶² ⁵	Perez-Rubio G...Falfan-Valencia R	25454901	2015
36	Prevalence of PIZ and PIS alleles of alpha-1-antitrypsin deficiency in Finland. ⁶² ⁵	Haggblom J...Saarelainen S	26672964	2015
37	Identification and characterisation of eight novel SERPINA1 Null mutations. ⁶² ⁵	Ferrarotti I...Luisetti M	25425243	2014
38	Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. ⁶² ⁵	Lara B...Martinez-Delgado B	25287719	2014
39	Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy. ⁶² ⁵	Balduyck M...Maitre B	25391508	2014
40	Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. ⁶² ⁵	Suh-Lailam BB...Grenache DG	24713750	2014
41	Increased outer arm and core fucose residues on the N-glycans of mutated alpha-1 antitrypsin protein from alpha-1 antitrypsin deficient individuals. ⁶² ⁵	McCarthy C...McElvaney NG	24328305	2014
42	Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach? ⁶² ⁵	Beletic A...Majkic-Singh N	24969923	2014
43	Alpha-1-antitrypsin deficiency associated with the Mattawa variant. ⁶² ⁵	Lara B...Miravitlles M	24183282	2013
44	Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. ⁶² ⁵	Vaz Rodrigues L...Seixas S	21457231	2012
45	A review of α1-antitrypsin deficiency. ⁶² ⁵	Stoller JK...Aboussouan LS	21960536	2012
46	Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization. ⁶² ⁵	Fra AM...Schiaffonati L	22723858	2012
47	SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort. ⁶² ⁵	Thun GA...Probst-Hensch NM	22912729	2012
48	Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. ⁶² ⁵	Ko DH...Song J	22016686	2011
49	The prevalence of alpha-1 antitrypsin deficiency in Ireland. ⁶² ⁵	Carroll TP...McElvaney NG	21752289	2011
50	Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area. ⁶² ⁵	Corda L...Balbi B	21474916	2011

Sources

Genes for Alpha-1-Antitrypsin Deficiency

Genes related to Alpha-1-Antitrypsin Deficiency (1 elite genes):

(show all 33)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SERPINA1	Serpin Family A Member 1	Protein Coding	1417.45	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	301355 1082356 1504305 (more) 1608473 1730596 1889260 1905728 1967187 2227940 2240842 2254451 2339709 2390072 2481421 2539391 2567291 2606478 2642408 2700304 2784123 2786335 2787118 2788166 2831367 2904702 2989709 3040726 3257351 3262617 3264419 3484754 3491442 3496639 3500183 6093867 6306478 6600898 6602622 7045697 7977369 7980208 8340361 8358043 8364536 8364590 8520784 8970361 9070606 9569237 9635295 10194472 10234508 11334395 12034572 12220457 14522813 14767073 14985567 15486938 15711957 15744045 15949707 15978931 15994391 16608528 17906067 17964515 18024524 18164971 18340647 18353624 18515255 18565211 18566672 19083091 19398551 19444872 19738092 19956452 20170533 20301692 20981092 21067581 21138453 21228398 21457231 21474916 21625484 21752289 21960536 22016686 22291048 22426792 22735536 22912357 22912729 22933512 22975760 22993338 23484243 23632999 23837941 23858502 23990791 24033266 24055113 24082139 24183282 24328305 24592811 24603877 24713750 24895604 24969923 25181470 25287719 25306238 25391508 25425243 25454901 25741868 25966443 26141072 26174136 26304913 26321041 26604020 26672964 26831755 26987331 27246852 27296815 27465791 27882547 28170284 28289587 28492532 28546746 29090095 29153744 29573137 29618937 29644095 30068317 30585791 30739910 31298815 31517326 31717526 32014855 32699024 34408828 34408829 1552539 3038256 10954248 19437508 1760450 7912884
2	SERPINA3	Serpin Family A Member 3	Protein Coding	29.43	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2332207 2327559 1871543 (more) 7912884
3	ELANE	Elastase, Neutrophil Expressed	Protein Coding	26.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2117160 11153169
4	PRTN3	Proteinase 3	Protein Coding	21.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10579117
5	SERPINA2	Serpin Family A Member 2 (Gene/Pseudogene)	Protein Coding	17.89	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7912884
6	CDIPT	CDP-Diacylglycerol--Inositol 3-Phosphatidyltransferase	Protein Coding	15.81	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	SERPINB1	Serpin Family B Member 1	Protein Coding	15.65	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	ELN	Elastin	Protein Coding	15.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	15.08	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	HFE	Homeostatic Iron Regulator	Protein Coding	14.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	14.61	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	TNF	Tumor Necrosis Factor	Protein Coding	14.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	SERPINI1	Serpin Family I Member 1	Protein Coding	14.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	SLPI	Secretory Leukocyte Peptidase Inhibitor	Protein Coding	14.23	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	MMP12	Matrix Metallopeptidase 12	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	ALB	Albumin	Protein Coding	14.12	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	AFP	Alpha Fetoprotein	Protein Coding	13.89	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	F2	Coagulation Factor II, Thrombin	Protein Coding	13.82	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	SERPINC1	Serpin Family C Member 1	Protein Coding	13.76	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	CHRNA3	Cholinergic Receptor Nicotinic Alpha 3 Subunit	Protein Coding	13.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	13.46	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	MPO	Myeloperoxidase	Protein Coding	13.2	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	IREB2	Iron Responsive Element Binding Protein 2	Protein Coding	13.19	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	SERPINA6	Serpin Family A Member 6	Protein Coding	13.1	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	SERPINE1	Serpin Family E Member 1	Protein Coding	13.03	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	MMP1	Matrix Metallopeptidase 1	Protein Coding	12.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	12.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	MMP3	Matrix Metallopeptidase 3	Protein Coding	12.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	BPI	Bactericidal Permeability Increasing Protein	Protein Coding	11.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	SEPSECS	Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase	Protein Coding	11.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	11.54	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	SPINT2	Serine Peptidase Inhibitor, Kunitz Type 2	Protein Coding	11.52	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Alpha-1-Antitrypsin Deficiency

ClinVar genetic disease variations for Alpha-1-Antitrypsin Deficiency:

⁵ (show top 50) (show all 295)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SERPINA1	NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)	SNV	Pathogenic	17987	rs28931572	GRCh37: 14:94849228-94849228 GRCh38: 14:94382891-94382891
2	SERPINA1	NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)	SNV	Pathogenic	17966	rs28931568	GRCh37: 14:94849303-94849303 GRCh38: 14:94382966-94382966
3	SERPINA1	PI NULL(HONG KONG 1)	MICROSAT	Pathogenic	17980	rs1057519610	GRCh37: 14:94845838-94845839 GRCh38: 14:94379501-94379502
4	SERPINA1	NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)	SNV	Pathogenic	17982	rs121912713	GRCh37: 14:94844898-94844898 GRCh38: 14:94378561-94378561
5	SERPINA1	QOgranite falls allele	VAR	Pathogenic	217816		GRCh37: GRCh38:
6	SERPINA1	PI NULL(PROCIDA)	DEL	Pathogenic	17979		GRCh37: GRCh38:
7	SERPINA1	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	INDEL	Pathogenic	219353	rs864622043	GRCh37: 14:94844928-94844935 GRCh38: 14:94378591-94378598
8	SERPINA1	NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	SNV	Pathogenic	219360	rs61761869	GRCh37: 14:94844866-94844866 GRCh38: 14:94378529-94378529
9	SERPINA1	NM_000295.5(SERPINA1):c.288_291del (p.His97fs)	DEL	Pathogenic	370034	rs1057516212	GRCh37: 14:94849284-94849287 GRCh38: 14:94382947-94382950
10	SERPINA1	NM_001127701.1(SERPINA1):c.647-1delG	DEL	Pathogenic	440496	rs1555368758	GRCh37: 14:94847478-94847478 GRCh38: 14:94381141-94381141
11	SERPINA1	NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	DUP	Pathogenic	440499	rs1555368557	GRCh37: 14:94847258-94847259 GRCh38: 14:94380921-94380922
12	SERPINA1	NM_000295.5(SERPINA1):c.1del (p.Met1fs)	DEL	Pathogenic	444039	rs1555369299	GRCh37: 14:94849574-94849574 GRCh38: 14:94383237-94383237
13	SERPINA1	NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SNV	Pathogenic	440487	rs1488213352	GRCh37: 14:94844817-94844817 GRCh38: 14:94378480-94378480
14	SERPINA1	NM_000295.5(SERPINA1):c.1064_1066= (p.Lys355_Ala356=)	DEL	Pathogenic	444034	rs1555367896	GRCh37: 14:94844977-94845799 GRCh38: 14:94378640-94379462
15	SERPINA1	NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)	SNV	Pathogenic	17985	rs1802959	GRCh37: 14:94844965-94844965 GRCh38: 14:94378628-94378628
16	SERPINA1	NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)	DEL	Pathogenic	444037	rs764325655	GRCh37: 14:94844885-94844885 GRCh38: 14:94378548-94378548
17	SERPINA1	NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)	SNV	Pathogenic	17986	rs11558261	GRCh37: 14:94849160-94849160 GRCh38: 14:94382823-94382823
18	SERPINA1	NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer)	DEL	Pathogenic	444035	rs1555367892	GRCh37: 14:94844970-94844971 GRCh38: 14:94378633-94378634
19	SERPINA1	NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	SNV	Pathogenic	626298	rs113817720	GRCh37: 14:94849331-94849331 GRCh38: 14:94382994-94382994
20	SERPINA1	NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)	INDEL	Pathogenic	626303	rs1566756379	GRCh37: 14:94848989-94848990 GRCh38: 14:94382652-94382653
21	SERPINA1	NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	SNV	Pathogenic	626306	rs1566753480	GRCh37: 14:94847292-94847292 GRCh38: 14:94380955-94380955
22	SERPINA1	NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)	SNV	Pathogenic	444040	rs1555369172	GRCh37: 14:94849348-94849348 GRCh38: 14:94383011-94383011
23	SERPINA1	NC_000014.8:g.(?_94843455)_(94854896_?)del	DEL	Pathogenic	1454847		GRCh37: 14:94843455-94854896 GRCh38:
24	SERPINA1	NM_000295.5(SERPINA1):c.787del (p.Val263fs)	DEL	Pathogenic	1460301		GRCh37: 14:94847338-94847338 GRCh38: 14:94381001-94381001
25	SERPINA1	NC_000014.8:g.(?_94847198)_(94854896_?)del	DEL	Pathogenic	1459806		GRCh37: 14:94847198-94854896 GRCh38:
26	SERPINA1	NM_000295.5(SERPINA1):c.607_608del (p.Asp203fs)	MICROSAT	Pathogenic	1074773		GRCh37: 14:94848967-94848968 GRCh38: 14:94382630-94382631
27	SERPINA1	NM_000295.5(SERPINA1):c.1113_1114del (p.Ala372fs)	DEL	Pathogenic	1075108		GRCh37: 14:94844929-94844930 GRCh38: 14:94378592-94378593
28	SERPINA1	NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer)	DEL	Pathogenic	17976	rs267606950	GRCh37: 14:94849023-94849023 GRCh38: 14:94382686-94382686
29	SERPINA1	NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)	DUP	Pathogenic	552891	rs763023697	GRCh37: 14:94844912-94844913 GRCh38: 14:94378575-94378576
30	SERPINA1	NC_000014.8:g.(?_94843455)_(94847488_?)del	DEL	Pathogenic	1457397		GRCh37: 14:94843455-94847488 GRCh38:
31	SERPINA1	NM_000295.5(SERPINA1):c.1052del (p.Leu351fs)	DEL	Pathogenic	1457874		GRCh37: 14:94845814-94845814 GRCh38: 14:94379477-94379477
32	SERPINA1	NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter)	SNV	Pathogenic	859309	rs760917668	GRCh37: 14:94847284-94847284 GRCh38: 14:94380947-94380947
33	SERPINA1	NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	SNV	Pathogenic	219354	rs28929470	GRCh37: 14:94847386-94847386 GRCh38: 14:94381049-94381049
34	SERPINA1	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SNV	Pathogenic Pathogenic Pathogenic	17967	rs28929474	GRCh37: 14:94844947-94844947 GRCh38: 14:94378610-94378610
35	SERPINA1	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV	Pathogenic Pathogenic	17969	rs17580	GRCh37: 14:94847262-94847262 GRCh38: 14:94380925-94380925
36	SERPINA1	NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)	SNV	Pathogenic	17992	rs55819880	GRCh37: 14:94849345-94849345 GRCh38: 14:94383008-94383008
37	SERPINA1	NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)	MICROSAT	Pathogenic	315028	rs775982338	GRCh37: 14:94849346-94849348 GRCh38: 14:94383009-94383011
38	SERPINA1	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV	Pathogenic	440500	rs17580	GRCh37: 14:94847262-94847262 GRCh38: 14:94380925-94380925
39	SERPINA1	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV	Pathogenic	440501	rs17580	GRCh37: 14:94847262-94847262 GRCh38: 14:94380925-94380925
40	SERPINA1	NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	SNV	Pathogenic	626304	rs28929474	GRCh37: 14:94844947-94844947 GRCh38: 14:94378610-94378610
41	SERPINA1	NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	SNV	Pathogenic	626305	rs17580	GRCh37: 14:94847262-94847262 GRCh38: 14:94380925-94380925
42	SERPINA1	NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	SNV	Pathogenic/Likely Pathogenic	17965	rs199422209	GRCh37: 14:94844865-94844865 GRCh38: 14:94378528-94378528
43	SERPINA1	NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)	DUP	Pathogenic/Likely Pathogenic	188845	rs764325655	GRCh37: 14:94844884-94844885 GRCh38: 14:94378547-94378548
44	SERPINA1	NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	SNV	Pathogenic/Likely Pathogenic	17974	rs28931570	GRCh37: 14:94849388-94849388 GRCh38: 14:94383051-94383051
45	SERPINA1	NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	SNV	Pathogenic/Likely Pathogenic	219364	rs864622051	GRCh37: 14:94849037-94849037 GRCh38: 14:94382700-94382700
46	SERPINA1	NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	SNV	Pathogenic/Likely Pathogenic Likely Pathogenic	17971	rs28931569	GRCh37: 14:94849381-94849381 GRCh38: 14:94383044-94383044
47	SERPINA1	NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	SNV	Pathogenic/Likely Pathogenic	17975	rs121912714	GRCh37: 14:94847286-94847286 GRCh38: 14:94380949-94380949
48	SERPINA1	NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)	SNV	Pathogenic/Likely Pathogenic	188854	rs199422210	GRCh37: 14:94849023-94849023 GRCh38: 14:94382686-94382686
49	SERPINA1	NM_000295.5(SERPINA1):c.646+1G>T	SNV	Pathogenic/Likely Pathogenic	189064	rs751235320	GRCh37: 14:94848928-94848928 GRCh38: 14:94382591-94382591
50	SERPINA1	NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	SNV	Pathogenic/Likely Pathogenic	17977	rs199422211	GRCh37: 14:94847404-94847404 GRCh38: 14:94381067-94381067

Sources

Expression for Alpha-1-Antitrypsin Deficiency

Genes differentially expressed in tissues of Alpha-1-Antitrypsin Deficiency patients vs. healthy controls: ³⁵

#	Gene	Description	Tissue	Up/Dn	Fold Change (log2)	P value
1	ORM1	orosomucoid 1	Lung	-	4.19	0.014
2	FOSB	FosB proto-oncogene, AP-1 transcription factor subunit	Lung	+	3.19	0.008

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

Sources

Pathways for Alpha-1-Antitrypsin Deficiency

Pathways related to Alpha-1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	12.19	SERPINC1 SERPINA1 PRTN3 F2
2	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) ⁶⁶ Show member pathways Post-translational protein phosphorylation ⁶⁶	11.72	SERPINC1 SERPINA1 F2 ALB AFP
3	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.58	SERPINA1 CFTR ALB AFP
4	Burn wound healing ⁷⁴	11.46	TNF ELN CXCL8
5	miRNAs involvement in the immune response in sepsis ⁷⁴	11.34	TNF ELANE CXCL8
6	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	11.07	F2 ALB AFP
7	Lung fibrosis ⁷⁴	10.72	TNF SERPINA1 ELN CXCL8
8	Cells and molecules involved in local acute inflammatory response ⁷⁴ Show member pathways IL8-mediated signaling events ⁶¹	10.02	TNF CXCL8

Sources

GO Terms for Alpha-1-Antitrypsin Deficiency

Cellular components related to Alpha-1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	10.3	ALB ELANE F2 GPT PRTN3 SERPINA1
2	extracellular region	GO:0005576	10.3	AFP ALB CXCL8 ELANE ELN F2
3	blood microparticle	GO:0072562	9.92	SERPINC1 SERPINA3 F2 ALB
4	collagen-containing extracellular matrix	GO:0062023	9.91	ELANE ELN F2 PRTN3 SERPINA1 SERPINA3
5	extracellular space	GO:0005615	9.84	AFP ALB CXCL8 ELANE F2 GPT

Biological processes related to Alpha-1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	acute-phase response	GO:0006953	9.8	SERPINA3 SERPINA1 F2
2	negative regulation of endopeptidase activity	GO:0010951	9.8	SLPI SERPINI1 SERPINC1 SERPINB1 SERPINA3 SERPINA2
3	neutrophil-mediated killing of gram-negative bacterium	GO:0070945	9.56	F2 ELANE
4	hemostasis	GO:0007599	9.33	SERPINC1 SERPINA1 F2
5	negative regulation of peptidase activity	GO:0010466	9.1	SLPI SERPINI1 SERPINC1 SERPINB1 SERPINA3 SERPINA1

Molecular functions related to Alpha-1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:0002020	9.76	TNF SERPINC1 SERPINA1 ELANE
2	peptidase inhibitor activity	GO:0030414	9.5	SLPI SERPINI1 SERPINC1 SERPINB1 SERPINA3 SERPINA1
3	serine-type endopeptidase inhibitor activity	GO:0004867	9.47	SLPI SERPINI1 SERPINC1 SERPINB1 SERPINA3 SERPINA2