Alpha-1-Antitrypsin Deficiency (A1ATD)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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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



Autosomal recessive 58 57


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

Age Of Onset:

All ages 58


57 (Updated 08-Dec-2022)
z allele most common, only in caucasians
secondary prevention, avoid smoking, alcohol, and oxidants


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

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

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
4 pneumothorax 31.4 SERPINB1 SERPINA1 ELN
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
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
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
35 dermatitis herpetiformis 30.5 TNF MMP12 CXCL8
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:

Diseases related to Alpha-1-Antitrypsin Deficiency

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%)
2 hepatic failure 58 30 Hallmark (90%) Very frequent (99-80%)
3 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
4 hepatitis 58 30 Frequent (33%) Frequent (79-30%)
5 jaundice 58 30 Frequent (33%) Frequent (79-30%)
6 nephrotic syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
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

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

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:

# 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:

# 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

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
1 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
9 Antirheumatic Agents Phase 2
10 Fibrinolytic Agents Phase 2
11 Antipyretics Phase 2
12 Cyclooxygenase Inhibitors Phase 2
13 Platelet Aggregation Inhibitors Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2
15 Neurotransmitter Agents Phase 2
Histamine phosphate Phase 2 51-74-1 134614
17 Histamine Antagonists Phase 2
18 4-phenylbutyric acid Phase 2
19 Adjuvants, Immunologic Phase 2
20 Viscosupplements Phase 2
21 Immunologic Factors Phase 2
22 Analgesics Phase 2
23 Analgesics, Non-Narcotic Phase 2
24 Sodium Channel Blockers Phase 2
25 Psychotropic Drugs Phase 2
26 Anticonvulsants Phase 2
27 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
30 Anti-Allergic Agents Phase 1
31 Anesthetics, Local Phase 1
32 Anesthetics Phase 1
33 Hypnotics and Sedatives Phase 1
34 Histamine H1 Antagonists Phase 1
35 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
49 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

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

Anatomical Context for Alpha-1-Antitrypsin Deficiency

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

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

Publications for Alpha-1-Antitrypsin Deficiency

Articles related to Alpha-1-Antitrypsin Deficiency:

(show top 50) (show all 3722)
# Title Authors PMID Year
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
2567291 1989
Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. 62 57 5
2831367 1988
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 62 57 5
6306478 1983
α1-Antitrypsin deficiency. 62 24 5
27465791 2016
PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD. 62 24 5
26141072 2015
α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 62 24 5
23632999 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 57 5
22975760 2013
Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. 62 24 5
22912357 2012
Serum levels and genotype distribution of α1-antitrypsin in the general population. 62 24 5
22426792 2012
Alpha1-antitrypsin deficiency. 62 24 5
15978931 2005
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. 62 24 5
14522813 2003
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
12220457 2002
Alpha1-antitrypsin deficiency--a model for conformational diseases. 62 24 57
11778003 2002
The mechanism of Z alpha 1-antitrypsin accumulation in the liver. 57 5
1608473 1992
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
1889260 1991
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
2606478 1989
Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model. 57 5
3264419 1988
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. 57 5
3040726 1987
Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. 57 5
3484754 1986
Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. 57 5
6093867 1984
Risk for liver disease in adults with alpha 1-antitrypsin deficiency. 62 24 57
6600583 1983
Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. 24 5
22933512 2012
The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. 62 5
34408829 2021
Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency? 62 5
34408828 2021
SERPINA1 gene polymorphisms in a population-based ALSPAC cohort. 62 5
31298815 2019
Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease. 62 5
29573137 2018
The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals. 62 5
29618937 2018
Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD. 62 5
29090095 2017
[Alpha-1 antitrypsin deficiency caused by Null mutation]. 62 5
26604020 2016
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. 62 5
27296815 2016
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
26831755 2016
Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders. 62 5
26987331 2016
SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis. 62 5
26321041 2015
Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. 62 5
26174136 2015
Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values. 62 5
25454901 2015
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. 62 5
26672964 2015
Identification and characterisation of eight novel SERPINA1 Null mutations. 62 5
25425243 2014
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. 62 5
25287719 2014
Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy. 62 5
25391508 2014
Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. 62 5
24713750 2014
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
24328305 2014
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
24969923 2014
Alpha-1-antitrypsin deficiency associated with the Mattawa variant. 62 5
24183282 2013
Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. 62 5
21457231 2012
A review of α1-antitrypsin deficiency. 62 5
21960536 2012
Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization. 62 5
22723858 2012
SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort. 62 5
22912729 2012
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. 62 5
22016686 2011
The prevalence of alpha-1 antitrypsin deficiency in Ireland. 62 5
21752289 2011
Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area. 62 5
21474916 2011

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
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:
17979 GRCh37:
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
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
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
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
17967 rs28929474 GRCh37: 14:94844947-94844947
GRCh38: 14:94378610-94378610
35 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) SNV 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

Expression for Alpha-1-Antitrypsin Deficiency

LifeMap Discovery
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.

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
Show member pathways
Show member pathways
4 11.46 TNF ELN CXCL8
Show member pathways
11.07 F2 ALB AFP
Show member pathways
10.02 TNF CXCL8

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

Sources for Alpha-1-Antitrypsin Deficiency

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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