Alpha-1-Antitrypsin Deficiency (A1ATD)

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

Aliases & Classifications for Alpha-1-Antitrypsin Deficiency

MalaCards integrated aliases for Alpha-1-Antitrypsin Deficiency:

Name: Alpha-1-Antitrypsin Deficiency 57 58 72 36 29 6 37 39
Alpha 1-Antitrypsin Deficiency 12 73 54 44 15 70
Alpha-1 Antitrypsin Deficiency 25 20 43 42 62
Aat Deficiency 12 25 20
Aatd 25 20 43
Emphysema Due to Aat Deficiency 57 13
A1at Deficiency 25 20
A1atd 57 72
Hemorrhagic Diathesis Due to Antithrombin Pittsburgh 57
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 70
Emphysema-Cirrhosis, Due to Aat Deficiency 57
Alpha-1 Protease Inhibitor Deficiency 43
Emphysema, Hereditary Pulmonary 70
Alpha-1 Antiprotease Deficiency 25
Alpha 1 Antitrypsin Deficiency 20
Hereditary Pulmonary Emphysema 43
Alpha-1 Related Emphysema 43
Inherited Emphysema 43
Genetic Emphysema 43
Aat 43


Orphanet epidemiological data:

alpha-1-antitrypsin deficiency
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Ireland),1-5/10000 (Europe),1-5/10000 (Germany),1-5/10000 (United States),6-9/10000 (Sweden); Age of onset: All ages;


57 (Updated 20-May-2021)
autosomal recessive

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


alpha-1-antitrypsin deficiency:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism

External Ids:

Disease Ontology 12 DOID:13372
OMIM® 57 613490
KEGG 36 H01103
ICD9CM 34 273.4
MeSH 44 D019896
NCIt 50 C84397
SNOMED-CT 67 30188007
ICD10 32 E88.01
MESH via Orphanet 45 C531610 D019896
ICD10 via Orphanet 33 E88.0
UMLS via Orphanet 71 C0221757 C3501835
Orphanet 58 ORPHA60
MedGen 41 C0221757
UMLS 70 C0221757 C1851718 C3501835

Summaries for Alpha-1-Antitrypsin Deficiency

MedlinePlus Genetics : 43 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 20 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, fatigue, and rapid heartbeat upon standing. 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, swollen feet or legs, 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 emphysema and cholestasis, 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 Complement and coagulation cascades and Selenium Micronutrient Network. The drugs Aspirin and Histamine have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and heart, and related phenotypes are emphysema and hepatic failure

Disease Ontology : 12 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.

GARD : 20 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. The age symptoms begin and severity of symptoms can vary depending on how much working alpha-1 antitrypsin protein (AAT) a person has. 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 changes (pathogenic variants, also called mutations ) in the SERPINA1 gene and it 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 allow the lungs to become damaged. A build-up of abnormal AAT can cause liver damage. Diagnosis may be suspected by finding low levels of AAT in the blood and confirmed by genetic testing. Treatment may include infusions of AAT. Other treatment depends on the type and severity of the person's medical problems, but may include bronchodilators to open airways, antibiotics for upper respiratory tract infections, and in severe cases, lung transplantation or liver transplantation.

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 20-May-2021)

MedlinePlus : 42 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

KEGG : 36 Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is the archetype of the serine protease inhibitor. Mutations in the A1AT gene lead to misfolding of the protein and accumulation within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT results in protease-antiprotease imbalance at the lung surface and emphysema ensues.

UniProtKB/Swiss-Prot : 72 Alpha-1-antitrypsin deficiency: 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.

PubMed Health : 62 About 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.

Wikipedia : 73 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 676)
# Related Disease Score Top Affiliating Genes
1 pulmonary emphysema 31.3 SLPI SERPINB1 SERPINA3 SERPINA1 MMP12 ELN
2 cholestasis 31.3 SLPI SERPINA1 GPT F2 ALB
3 bronchiectasis 31.3 TNF SLPI SERPINA3 SERPINA1 ELANE CXCL8
4 pulmonary disease, chronic obstructive 31.3 TNF SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3
6 biliary atresia 31.0 GPT F2 ALB
7 granulomatosis with polyangiitis 31.0 TNF SERPINB1 SERPINA1 PRTN3 ELANE
9 pancreatitis 30.9 TNF SERPINA3 SERPINA1 ELANE CFTR
10 diverticulitis 30.8 TNF SERPINA1 ALB
11 liver disease 30.8 TNF SLPI SERPINA3 SERPINA1 HFE GPT
12 anca-associated vasculitis 30.8 SERPINA1 PRTN3
13 hemochromatosis, type 1 30.8 SERPINA1 HFE GPT CFTR ALB AFP
14 fatty liver disease 30.7 TNF HFE GPT CXCL8
15 proteasome-associated autoinflammatory syndrome 1 30.7 TNF ELANE CXCL8 ALB
16 hemosiderosis 30.7 PRTN3 HFE GPT ALB
17 non-alcoholic fatty liver disease 30.7 TNF SERPINA1 HFE GPT CXCL8 ALB
19 liver cirrhosis 30.7 TNF SLPI SERPINA3 SERPINA1 HFE GPT
20 siderosis 30.7 SERPINA3 SERPINA1 HFE GPT
21 periodontitis 30.6 TNF SERPINA3 ELANE CXCL8
22 non-alcoholic steatohepatitis 30.6 TNF HFE GPT CXCL8 ALB
23 autoimmune hepatitis 30.6 TNF GPT F2 ALB
24 portal hypertension 30.6 TNF GPT F2 ELN CXCL8 CFTR
25 wilson disease 30.5 TNF HFE GPT CXCL8
26 varicose veins 30.5 TNF HFE F2 ELN CXCL8
27 hepatic coma 30.5 GPT F2 ALB AFP
28 encephalopathy, familial, with neuroserpin inclusion bodies 30.5 SERPINI1 SERPINA3 SERPINA1
29 eclampsia 30.5 TNF F2 ALB
30 hypersplenism 30.5 GPT F2 ALB
31 dermatitis herpetiformis 30.5 TNF MMP12 CXCL8
32 bronchiolitis obliterans 30.4 TNF SLPI CXCL8
33 primary biliary cholangitis 30.4 PRTN3 GPT F2 CFTR ALB
34 interstitial lung disease 30.4 TNF PRTN3 CXCL8 ALB
35 fibromyalgia 30.4 TNF SERPINA1 CXCL8
36 granulomatous hepatitis 30.4 TNF GPT ALB
37 budd-chiari syndrome 30.4 F2 ALB AFP
38 chronic granulomatous disease 30.3 TNF SLPI ELANE CXCL8
39 hemopericardium 30.3 F2 ELN
40 cellulitis 30.3 TNF GPT F2 ALB
41 skin disease 30.3 TNF SERPINA3 PRTN3 ELN CXCL8 ALB
42 hepatic encephalopathy 30.3 TNF GPT F2 ALB
43 mycobacterium abscessus 30.3 TNF SERPINA1 CXCL8 CFTR
44 inherited metabolic disorder 30.3 TNF SERPINA3 SERPINA1 HFE GPT F2
45 hepatitis c 30.3 TNF HFE GPT AFP
46 pleural empyema 30.3 GPT F2 ALB
47 acute pancreatitis 30.3 TNF SERPINA3 GPT ELANE CXCL8 CFTR
48 bacterial infectious disease 30.2 TNF SERPINA3 ELANE CXCL8 CFTR
49 hepatorenal syndrome 30.2 GPT F2 ALB
50 bronchial disease 30.2 TNF SERPINA3 ELANE CXCL8 CFTR ALB

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 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 58 31 hallmark (90%) Very frequent (99-80%) HP:0002097
2 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
3 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
4 hepatitis 58 31 frequent (33%) Frequent (79-30%) HP:0012115
5 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
6 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
7 cirrhosis 31 occasional (7.5%) HP:0001394
8 dyspnea 31 very rare (1%) HP:0002094
9 wheezing 31 very rare (1%) HP:0030828
10 chronic bronchitis 31 very rare (1%) HP:0004469
11 elevated hepatic transaminase 31 HP:0002910
12 hepatocellular carcinoma 31 HP:0001402
13 chronic pulmonary obstruction 31 HP:0006510
14 panacinar emphysema 31 HP:0032967

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 9.17 AFP ALB CXCL8 HFE PRTN3 SERPINI1

Drugs & Therapeutics for Alpha-1-Antitrypsin Deficiency

PubMed Health treatment related to Alpha-1-Antitrypsin Deficiency: 62

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 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
Protein C Approved Phase 2
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
7 Gossypol Investigational Phase 2 303-45-7
8 Fibrinolytic Agents Phase 2
9 Antirheumatic Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2
12 Platelet Aggregation Inhibitors Phase 2
13 Cyclooxygenase Inhibitors Phase 2
14 Antipyretics Phase 2
Histamine Phosphate Phase 2 51-74-1 65513
16 Histamine Antagonists Phase 2
17 4-phenylbutyric acid Phase 2
18 Viscosupplements Phase 2
19 Adjuvants, Immunologic Phase 2
20 Protective Agents Phase 2
21 Immunologic Factors Phase 2
22 Psychotropic Drugs Phase 2
23 Sodium Channel Blockers Phase 2
24 Diuretics, Potassium Sparing Phase 2
25 Anticonvulsants Phase 2
26 Analgesics Phase 2
27 Analgesics, Non-Narcotic Phase 2
28 Gossypol acetic acid Phase 2
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
Promethazine Approved, Investigational Phase 1 60-87-7 4927
31 Hypnotics and Sedatives Phase 1
32 Gastrointestinal Agents Phase 1
33 Anesthetics Phase 1
34 Antiemetics Phase 1
35 Anesthetics, Local Phase 1
36 Anti-Allergic Agents Phase 1
37 Dermatologic Agents Phase 1
38 Histamine H1 Antagonists Phase 1
Vitamin K1 Approved, Investigational 84-80-0 5284607
Nitric Oxide Approved 10102-43-9 145068
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
Lorazepam Approved 846-49-1 3958
Acetaminophen Approved 103-90-2 1983
Ondansetron Approved 99614-02-5 4595
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
Hydrocodone Approved, Illicit, Investigational 125-29-1 5284569
Midazolam Approved, Illicit 59467-70-8 4192
Lidocaine Approved, Vet_approved 137-58-6 3676
Methylprednisolone Approved, Vet_approved 83-43-2 6741
Methylprednisolone hemisuccinate Approved 2921-57-5

Interventional clinical trials:

(show top 50) (show all 94)
# 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 ARALAST alpha1-proteinase Inhibitor (α1-PI) Surveillance Study Terminated NCT00313144 Phase 4 ARALAST Alpha1-Proteinase Inhibitor
6 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
7 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
8 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)
9 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
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 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
12 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
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 Placebo-Controlled, Multi-dose, Phase 2/3 Study to Determine the Safety, Tolerability and Effect on Liver Histologic Parameters in Response to ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency (AATD) [SEQUOIA] Recruiting NCT03945292 Phase 2, Phase 3 ARO-AAT Injection
15 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 Recruiting NCT04204252 Phase 3 Alpha 1-Antitrypsin;Placebos
16 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
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 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
20 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Completed NCT03008915 Phase 2 Aspirin;Placebo
21 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
22 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)
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 "4 Phenyl Butyrate Mediated Secretion Rescue in Alpha 1-Antitrypsin Deficient Individuals" Completed NCT00067756 Phase 2 4-PBA
25 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
26 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
27 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
28 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
29 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
30 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
31 A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency Recruiting NCT01379469 Phase 2 Drug-Carbamazepine (Tegretol XR);Carbamazepine (Tegretol XR) Placebo
32 A First in Class Disease Modifying Therapy to Treat Alpha-1 Antitrypsin Deficiency a Genetically Linked Orphan Disease Recruiting NCT03679598 Phase 2 Alvelestat (MPH966)
33 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. Recruiting NCT03636347 Phase 2 Placebo Oral Tablet;Alvelestat oral tablet - dose 1;Alvelestat oral tablet - dose 2
34 A Phase 2a, Randomized, Double-blind, Placebo Controlled, Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of Belcesiran in Patients With PiZZ Alpha-1 Antitrypsin Deficiency Recruiting NCT04764448 Phase 2 belcesiran
35 A Multicenter, Randomized, Double-blind, Placebo-Controlled, Parallel Group Study to Evaluate the Safety and Efficacy of Liquid Alpha1-Proteinase Inhibitor (Human) Plus Standard Medical Treatment (SMT) Versus Placebo Plus SMT in Hospitalized Subjects With COVID-19 Recruiting NCT04547140 Phase 2 Placebo;Standard Medical Treatment
36 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
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 Active, not recruiting NCT02870348 Phase 1, Phase 2
38 A Phase 2, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of VX-864 in PiZZ Subjects Active, not recruiting NCT04474197 Phase 2 VX-864;Placebo
39 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 Not yet recruiting NCT04722887 Phase 1, Phase 2
40 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;ALN-AAT02
41 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
42 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
43 An Open-Label, Multi-dose, Phase 2 Study to Determine the Safety, Tolerability and Effect on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels of ARC-AAT as Evidenced by Changes in Liver Biopsy in Patients With Alpha-1 Antitrypsin Deficiency (AATD) Withdrawn NCT02900183 Phase 2 ARC-AAT Injection
44 A Randomized, Double-blind, Parallel-group, Multicenter, Pharmacokinetic Study Comparing Weekly Intravenous Administration of OctaAlpha1 (Octapharma) With a Marketed Preparation Glassia® (Kamada Ltd.) in Subjects With Alpha-1-antitrypsin Deficiency Withdrawn NCT03385395 Phase 2 OctaAlpha1;Glassia
45 Preclinical & Phase I/II Trials of AAV-AAT Vectors: Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Alpha 1-Antitrypsin (rAAV1-CB-hAAT) Gene Vector to AAT-Deficient Adults Completed NCT00430768 Phase 1
46 Single-Dose, Double-Blind, Crossover Study to Evaluate the Pharmacokinetic Comparability of ARALAST Fraction IV-1 Alpha1-Proteinase Inhibitor (ARALAST Fr. IV-1) and ARALAST Completed NCT00242385 Phase 1
47 A Phase 1 Single and Multiple Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Effect of ARO-AAT on Serum Alpha-1 Antitrypsin Levels in Normal Adult Volunteers Completed NCT03362242 Phase 1 ARO-AAT Injection
48 A Double Blind, Randomized, Placebo Controlled, Single Dose, Phase I Study of the Safety and Tolerability of Alpha1 Proteinase Inhibitor (Human) Inhalation Solution (CR002) in Subjects With Cystic Fibrosis Completed NCT01347190 Phase 1
49 An Open-Label, Multicenter, Phase 1 Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of Single and Multiple Ascending Intravenous Doses of Inhibrx rhAAT-Fc (INBRX-101) in Adults With Alpha-1 Antitrypsin Deficiency (AATD) Recruiting NCT03815396 Phase 1 INBRX-101/rhAAT-Fc
50 A Double-blind, Randomised, Placebo-controlled Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Single Ascending and Repeated Doses of Orally Administered ZF874 in Healthy Volunteers and PiXZ Subjects Recruiting NCT04443192 Phase 1 ZF874;Placebo

Search NIH Clinical Center for Alpha-1-Antitrypsin Deficiency

Inferred drug relations via UMLS 70 / NDF-RT 51 :

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 29 SERPINA1

Anatomical Context for Alpha-1-Antitrypsin Deficiency

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

Liver, Lung, Heart, Bone, Kidney, Neutrophil, Thyroid
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 2595)
# 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. 6 57 61
2567291 1989
Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. 57 61 6
2831367 1988
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 61 6 57
6306478 1983
PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD. 6 25 61
26141072 2015
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 57 6
22975760 2013
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. 6 25 61
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. 6 57
12220457 2002
The mechanism of Z alpha 1-antitrypsin accumulation in the liver. 6 57
1608473 1992
Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. 61 25 6
1889260 1991
Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). 25 6 61
2606478 1989
Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model. 57 6
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 6
3040726 1987
Evaluation of "at risk" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes. 6 57
3484754 1986
Risk for liver disease in adults with alpha 1-antitrypsin deficiency. 61 25 57
6600583 1983
α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 6 25
23632999 2013
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. 25 6
22933512 2012
Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. 25 6
22912357 2012
Serum levels and genotype distribution of α1-antitrypsin in the general population. 25 6
22426792 2012
Alpha1-antitrypsin deficiency. 6 25
15978931 2005
Alpha1-antitrypsin deficiency--a model for conformational diseases. 25 57
11778003 2002
[Alpha-1 antitrypsin deficiency caused by Null mutation]. 6 61
26604020 2016
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. 61 6
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. 6 61
26831755 2016
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. 61 6
26672964 2015
Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategy. 6 61
25391508 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? 6 61
24969923 2014
Alpha-1-antitrypsin deficiency associated with the Mattawa variant. 6 61
24183282 2013
Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. 6 61
22016686 2011
The prevalence of alpha-1 antitrypsin deficiency in Ireland. 61 6
21752289 2011
[Biochemical and molecular diagnosis of alpha 1 antitrypsin deficiency in a Tunisian family]. 61 6
19654085 2009
Alpha-1 Antitrypsin Deficiency 6 61
20301692 2006
Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsin. 6 61
15486938 2004
Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants. 61 6
14767073 2004
Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. 6 61
14985567 2004
Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. 61 57
14616761 2003
Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. 57 61
12786756 2003
Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of the general population. 57 61
11848724 2002
Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. 57 61
9692092 1998
Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group. 61 6
8970361 1996
New insights into the structural basis of alpha 1-antitrypsin deficiency. 57 61
8977959 1996
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. 61 6
8520784 1995
Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. 57 61
7785020 1995
A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. 57 61
8090762 1994
Absence of alpha-1-antitrypsin (Pi Null Bellingham) and the early onset of emphysema. 6 61
7980208 1994
PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. 61 6
8358043 1993
The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. 61 57
8441253 1993
Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte. 6 61
8364590 1993
Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site. 61 57
1937480 1991
Alpha-1 antitrypsin deficiency and systemic necrotizing vasculitis. 61 57
1684994 1991
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). 6 61
2227940 1990

Variations for Alpha-1-Antitrypsin Deficiency

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

6 (show top 50) (show all 214)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINA1 QOgranite falls allele Variation Pathogenic 217816 GRCh37:
2 SERPINA1 NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) Deletion Pathogenic 17976 rs267606950 GRCh37: 14:94849023-94849023
GRCh38: 14:94382686-94382686
3 SERPINA1 NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) SNV Pathogenic 17987 rs28931572 GRCh37: 14:94849228-94849228
GRCh38: 14:94382891-94382891
4 SERPINA1 NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) SNV Pathogenic 17966 rs28931568 GRCh37: 14:94849303-94849303
GRCh38: 14:94382966-94382966
5 SERPINA1 PI NULL(HONG KONG 1) Microsatellite Pathogenic 17980 rs1057519610 GRCh37: 14:94845838-94845839
GRCh38: 14:94379501-94379502
6 SERPINA1 NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) Indel Pathogenic 219353 rs864622043 GRCh37: 14:94844928-94844935
GRCh38: 14:94378591-94378598
7 SERPINA1 PI NULL(PROCIDA) Deletion Pathogenic 17979 GRCh37:
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) Deletion Pathogenic 370034 rs1057516212 GRCh37: 14:94849284-94849287
GRCh38: 14:94382947-94382950
10 SERPINA1 NM_001127701.1(SERPINA1):c.647-1delG Deletion Pathogenic 440496 rs1555368758 GRCh37: 14:94847478-94847478
GRCh38: 14:94381141-94381141
11 SERPINA1 NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) Duplication Pathogenic 440499 rs1555368557 GRCh37: 14:94847258-94847259
GRCh38: 14:94380921-94380922
12 SERPINA1 NM_000295.5(SERPINA1):c.1del (p.Met1fs) Deletion 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=) Deletion 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) Deletion 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) Deletion Pathogenic 444035 rs1555367892 GRCh37: 14:94844970-94844971
GRCh38: 14:94378633-94378634
19 SERPINA1 NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) SNV Pathogenic 444040 rs1555369172 GRCh37: 14:94849348-94849348
GRCh38: 14:94383011-94383011
20 SERPINA1 NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs) Duplication Pathogenic 552891 rs763023697 GRCh37: 14:94844912-94844913
GRCh38: 14:94378575-94378576
21 SERPINA1 NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro) SNV Pathogenic 626298 rs113817720 GRCh37: 14:94849331-94849331
GRCh38: 14:94382994-94382994
22 SERPINA1 NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs) Indel Pathogenic 626303 rs1566756379 GRCh37: 14:94848989-94848990
GRCh38: 14:94382652-94382653
23 SERPINA1 NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro) SNV Pathogenic 626306 rs1566753480 GRCh37: 14:94847292-94847292
GRCh38: 14:94380955-94380955
24 SERPINA1 NM_000295.5(SERPINA1):c.841G>T (p.Glu281Ter) SNV Pathogenic 859309 GRCh37: 14:94847284-94847284
GRCh38: 14:94380947-94380947
25 SERPINA1 NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) SNV Pathogenic 219354 rs28929470 GRCh37: 14:94847386-94847386
GRCh38: 14:94381049-94381049
26 SERPINA1 NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) SNV Pathogenic 17982 rs121912713 GRCh37: 14:94844898-94844898
GRCh38: 14:94378561-94378561
27 SERPINA1 NM_000295.5(SERPINA1):c.868G>T (p.Glu290Ter) SNV Pathogenic 1032298 GRCh37: 14:94847257-94847257
GRCh38: 14:94380920-94380920
28 SERPINA1 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) SNV Pathogenic 17967 rs28929474 GRCh37: 14:94844947-94844947
GRCh38: 14:94378610-94378610
29 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) SNV Pathogenic 17969 rs17580 GRCh37: 14:94847262-94847262
GRCh38: 14:94380925-94380925
30 SERPINA1 NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) SNV Pathogenic 17992 rs55819880 GRCh37: 14:94849345-94849345
GRCh38: 14:94383008-94383008
31 SERPINA1 NM_000295.5(SERPINA1):c.221_223TCT[2] (p.Phe76del) Microsatellite Pathogenic 315028 rs775982338 GRCh37: 14:94849346-94849348
GRCh38: 14:94383009-94383011
32 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) SNV Pathogenic 440500 rs17580 GRCh37: 14:94847262-94847262
GRCh38: 14:94380925-94380925
33 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) SNV Pathogenic 440501 rs17580 GRCh37: 14:94847262-94847262
GRCh38: 14:94380925-94380925
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.1096G>A (p.Glu366Lys) SNV Pathogenic 626304 rs28929474 GRCh37: 14:94844947-94844947
GRCh38: 14:94378610-94378610
37 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) SNV Pathogenic 626305 rs17580 GRCh37: 14:94847262-94847262
GRCh38: 14:94380925-94380925
38 SERPINA1 NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) Duplication Pathogenic/Likely pathogenic 188845 rs764325655 GRCh37: 14:94844884-94844885
GRCh38: 14:94378547-94378548
39 SERPINA1 NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) SNV Pathogenic/Likely pathogenic 17965 rs199422209 GRCh37: 14:94844865-94844865
GRCh38: 14:94378528-94378528
40 SERPINA1 NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) SNV Pathogenic/Likely pathogenic 17974 rs28931570 GRCh37: 14:94849388-94849388
GRCh38: 14:94383051-94383051
41 SERPINA1 NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) SNV Pathogenic/Likely pathogenic 219364 rs864622051 GRCh37: 14:94849037-94849037
GRCh38: 14:94382700-94382700
42 SERPINA1 NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) SNV Pathogenic/Likely pathogenic 17977 rs199422211 GRCh37: 14:94847404-94847404
GRCh38: 14:94381067-94381067
43 SERPINA1 NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) SNV Likely pathogenic 188854 rs199422210 GRCh37: 14:94849023-94849023
GRCh38: 14:94382686-94382686
44 SERPINA1 NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) SNV Likely pathogenic 17971 rs28931569 GRCh37: 14:94849381-94849381
GRCh38: 14:94383044-94383044
45 SERPINA1 NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) SNV Likely pathogenic 692116 rs746155701 GRCh37: 14:94845908-94845908
GRCh38: 14:94379571-94379571
46 SERPINA1 NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) SNV Likely pathogenic 17971 rs28931569 GRCh37: 14:94849381-94849381
GRCh38: 14:94383044-94383044
47 SERPINA1 NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) SNV Likely pathogenic 444036 rs1555367891 GRCh37: 14:94844970-94844970
GRCh38: 14:94378633-94378633
48 SERPINA1 NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) SNV Likely pathogenic 551512 rs1445192595 GRCh37: 14:94847471-94847471
GRCh38: 14:94381134-94381134
49 SERPINA1 NM_000295.5(SERPINA1):c.1066-1G>T SNV Likely pathogenic 552457 rs1555367897 GRCh37: 14:94844978-94844978
GRCh38: 14:94378641-94378641
50 SERPINA1 NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) SNV Likely pathogenic 444038 rs1457464431 GRCh37: 14:94849406-94849406
GRCh38: 14:94383069-94383069

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 KEGG:

# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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 9.96 SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA1 PRTN3
2 extracellular region GO:0005576 9.8 TNF SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA1
3 collagen-containing extracellular matrix GO:0062023 9.76 SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3 F2
4 azurophil granule lumen GO:0035578 9.54 SERPINA3 PRTN3 ELANE
5 extracellular space GO:0005615 9.53 TNF SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA2
6 platelet alpha granule lumen GO:0031093 9.5 SERPINA3 SERPINA1 ALB

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.73 SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3 ELANE
2 cellular protein metabolic process GO:0044267 9.67 SERPINA1 F2 ALB AFP
3 negative regulation of peptidase activity GO:0010466 9.55 SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA1
4 neutrophil mediated killing of gram-negative bacterium GO:0070945 9.32 F2 ELANE
5 acute-phase response GO:0006953 9.26 SERPINA3 SERPINA1 HFE F2
6 negative regulation of endopeptidase activity GO:0010951 9.1 SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA2 SERPINA1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.35 SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA1
2 serine-type endopeptidase inhibitor activity GO:0004867 9.1 SLPI SERPINI1 SERPINB1 SERPINA3 SERPINA2 SERPINA1

Sources for Alpha-1-Antitrypsin Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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