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 56 58 73 36 29 6 37 39
Alpha 1-Antitrypsin Deficiency 12 74 54 43 15 71
Alpha-1 Antitrypsin Deficiency 24 52 25 42 62
Aat Deficiency 12 24 52
Aatd 24 52 25
Emphysema Due to Aat Deficiency 56 13
A1at Deficiency 24 52
A1atd 56 73
Hemorrhagic Diathesis Due to Antithrombin Pittsburgh 56
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 71
Emphysema-Cirrhosis, Due to Aat Deficiency 56
Alpha-1 Protease Inhibitor Deficiency 25
Emphysema, Hereditary Pulmonary 71
Alpha 1 Antitrypsin Deficiency 52
Hereditary Pulmonary Emphysema 25
Alpha-1 Related Emphysema 25
Inherited Emphysema 25
Genetic Emphysema 25
Aat 25


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;


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 56 613490
KEGG 36 H01103
ICD9CM 34 273.4
MeSH 43 D019896
NCIt 49 C84397
SNOMED-CT 67 30188007
ICD10 32 E88.01
MESH via Orphanet 44 C531610 D019896
ICD10 via Orphanet 33 E88.0
UMLS via Orphanet 72 C0221757 C3501835
Orphanet 58 ORPHA60
MedGen 41 C0221757
UMLS 71 C0221757 C1851718 C3501835

Summaries for Alpha-1-Antitrypsin Deficiency

Genetics Home Reference : 25 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 anca-associated vasculitis and heart valve disease, 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 Folate Metabolism. The drugs Pharmaceutical Solutions and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and testes, 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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 614)
# Related Disease Score Top Affiliating Genes
1 anca-associated vasculitis 31.0 SERPINA1 PRTN3
2 heart valve disease 31.0 SERPINA3 F2 ELN ALB
3 granulomatosis with polyangiitis 30.9 TNF SERPINB1 SERPINA1 PRTN3 ELANE
4 pulmonary disease, chronic obstructive 30.8 TNF SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3
5 cholestasis 30.7 SLPI SERPINA1 GPT F2 ALB
6 pneumothorax 30.6 SERPINB1 SERPINA1 ELN
7 bronchiolitis obliterans 30.6 TNF SLPI CXCL8
8 eclampsia 30.6 TNF F2 ALB
9 biliary atresia 30.6 GPT F2 ALB
10 siderosis 30.6 SERPINA1 HFE GPT
11 cryptogenic cirrhosis 30.5 HFE F2
13 pulmonary emphysema 30.5 SLPI SERPINB1 SERPINA3 SERPINA1 ELN ELANE
14 bilirubin metabolic disorder 30.5 GPT F2 ALB
15 mycobacterium abscessus 30.4 TNF SERPINA1 CXCL8 CFTR
16 acute liver failure 30.4 GPT F2 ALB
17 hemorrhagic disease 30.4 SERPINA1 PRTN3 F2
18 trypanosomiasis 30.4 TNF GPT CXCL8 ALB
19 severe acute respiratory syndrome 30.4 TNF GPT CXCL8
20 hepatic encephalopathy 30.4 TNF GPT F2 ALB
21 fibromyalgia 30.4 TNF SERPINA1 CXCL8
22 liver cirrhosis 30.3 SERPINA3 SERPINA1 HFE GPT F2 ALB
23 lymphadenitis 30.3 TNF SERPINA3 CXCL8
24 hemosiderosis 30.3 IREB2 HFE GPT
25 hepatorenal syndrome 30.3 GPT F2 ALB
26 diverticulitis 30.3 TNF SERPINA1 ALB
27 neurofibromatosis, type ii 30.2 TNF SERPINA3 CXCL8
28 non-alcoholic fatty liver disease 30.2 TNF HFE GPT CXCL8 ALB
29 infantile liver failure syndrome 1 30.2 GPT F2 ALB
30 non-alcoholic steatohepatitis 30.2 TNF GPT
31 pulmonary edema 30.2 TNF F2 CXCL8 CFTR
32 endocarditis 30.2 TNF F2 CXCL8 ALB
33 bronchiectasis 30.2 TNF SLPI SERPINA3 SERPINA1 ELANE CXCL8
34 conjunctival disease 30.2 TNF CXCL8 ALB
35 fatty liver disease 30.1 TNF GPT CXCL8 ALB
36 hepatic tuberculosis 30.1 GPT F2 ALB
37 hypersplenism 30.1 GPT F2 ALB
38 food allergy 30.0 TNF CXCL8 ALB
39 proteasome-associated autoinflammatory syndrome 1 30.0 TNF ELANE CXCL8 ALB
40 obstructive jaundice 30.0 TNF GPT F2 CXCL8 ALB
41 inguinal hernia 30.0 SERPINB1 ELN ELANE
42 disseminated intravascular coagulation 30.0 TNF GPT F2 ELANE
43 granulomatous hepatitis 29.9 GPT ALB
44 pre-eclampsia 29.9 TNF F2 CXCL8 ALB AFP
45 interstitial lung disease 29.9 TNF PRTN3 CXCL8 ALB
46 varicose veins 29.9 TNF HFE F2 ELN CXCL8
47 hyperuricemia 29.9 GPT CXCL8 ALB
48 autosomal genetic disease 29.9 TNF SERPINA3 CXCL8 CFTR ALB
49 hepatitis c 29.9 TNF HFE GPT AFP
50 middle ear disease 29.9 TNF SERPINA3 PRTN3 CXCL8 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 11)
# 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 HP:0002094
9 elevated hepatic transaminase 31 HP:0002910
10 chronic obstructive pulmonary disease 31 HP:0006510
11 hepatocellular carcinoma 31 HP:0001402

Symptoms via clinical synopsis from OMIM:

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:


UMLS symptoms related to Alpha-1-Antitrypsin Deficiency:

hemoptysis, snoring, coughing

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

# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.36 ALB CFTR CHRNA3 ELANE F2 HFE

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 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
protease inhibitors Phase 4
3 HIV Protease Inhibitors Phase 4
4 Serine Proteinase Inhibitors Phase 4
5 Alpha 1-Antitrypsin Phase 4
6 Trypsin Inhibitors Phase 4
7 Protein C Inhibitor Phase 4
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
Mycophenolic acid Approved Phase 3 24280-93-1 446541
10 Antitubercular Agents Phase 3
11 Antibiotics, Antitubercular Phase 3
12 Anti-Bacterial Agents Phase 3
13 Liver Extracts Phase 3
14 Anti-Infective Agents Phase 3
15 Antiviral Agents Phase 3
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
Protein C Approved Phase 2
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
23 4-phenylbutyric acid Phase 2
24 Dermatologic Agents Phase 2
25 Keratolytic Agents Phase 2
26 Cytochrome P-450 CYP3A Inducers Phase 2
27 Antimanic Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Fibrinolytic Agents Phase 2
30 Analgesics, Non-Narcotic Phase 2
31 Anti-Inflammatory Agents, Non-Steroidal Phase 2
32 Cyclooxygenase Inhibitors Phase 2
33 Platelet Aggregation Inhibitors Phase 2
34 Antipyretics Phase 2
35 Antirheumatic Agents Phase 2
36 Analgesics Phase 2
37 Viscosupplements Phase 2
38 Adjuvants, Immunologic Phase 2
39 Protective Agents Phase 2
40 Immunologic Factors Phase 2
Histamine Approved, Investigational Phase 1 51-45-6 774
Diphenhydramine Approved, Investigational Phase 1 147-24-0, 58-73-1 3100
Promethazine Approved, Investigational Phase 1 60-87-7 4927
44 Xenon Experimental Phase 1 7440-63-3
45 Anesthetics, General Phase 1
46 Anesthetics, Inhalation Phase 1
47 Central Nervous System Depressants Phase 1
48 Anesthetics, Local Phase 1
49 Neurotransmitter Agents Phase 1
50 Antiemetics Phase 1

Interventional clinical trials:

(show top 50) (show all 100)
# 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 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
3 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
4 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
5 ARALAST alpha1-proteinase Inhibitor (α1-PI) Surveillance Study Terminated NCT00313144 Phase 4 ARALAST Alpha1-Proteinase Inhibitor
6 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
7 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)
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 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
10 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
11 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)
12 Pharmacokinetics of Mycophenolate Mofetil in de Novo Lung Allograft Recipients Completed NCT01014442 Phase 3 mycophenolate mofetil
13 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
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 Recruiting NCT04204252 Phase 3 Alpha 1-Antitrypsin;Placebos
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
18 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
19 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
20 Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant Recipients Unknown status NCT01394835 Phase 2 Alpha -1 Antitrypsin;Alpha-1 Antitrypsin;AAT
21 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 Placebo
22 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
23 "4 Phenyl Butyrate Mediated Secretion Rescue in Alpha 1-Antitrypsin Deficient Individuals" Completed NCT00067756 Phase 2 4-PBA
24 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
25 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)
26 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
27 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)
28 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
29 Feasibility of Retinoic Acid Treatment in Emphysema (FORTE) Completed NCT00000621 Phase 2 all trans retinoic acid;13 cis retinoic acid;placebo
30 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
31 A Pilot Open Label, Multi-dose, Phase 2 Study to Assess Changes in a Novel Histological Activity Scale in Response to ARO-AAT in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD) Recruiting NCT03946449 Phase 2 ARO-AAT Injection
32 A First in Class Disease Modifying Therapy to Treat Alpha-1 Antitrypsin Deficiency a Genetically Linked Orphan Disease Recruiting NCT03679598 Phase 2 Alvelestat (MPH996)
33 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
34 A Phase 1/2 Ascending Dose, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered DCR-A1AT in Healthy Adult Volunteers and Patients With Alpha1-Antitrypsin-Deficiency-Associated Liver Disease Recruiting NCT04174118 Phase 1, Phase 2 DCR-A1AT;Placebo
35 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 (PiZZ or Null) Antitrypsin Deficiency Recruiting NCT03636347 Phase 2 Placebo Oral Tablet;Alvelestat oral tablet - dose 1;Alvelestat oral tablet - dose 2
36 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 Active, not recruiting NCT03767829 Phase 1, Phase 2 ALN-AAT02;Placebo;ALN-AAT02
37 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Active, not recruiting NCT03008915 Phase 2 Aspirin;Placebo
38 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 Active, not recruiting NCT02168686 Phase 1, Phase 2
39 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
40 A Proof of Concept (POC) Study, Phase II, Open Label, Randomized, Standard Care - Controlled, Single Center Study Evaluating the Safety and Efficacy of Human, Alpha-1 Antitrypsin (AAT) [GLASSIA®] Treatment in First Lung Transplantation Active, not recruiting NCT02614872 Phase 2 GLASSIA® and Institution standard of care (SOC)
41 A Phase 2, Randomized, Double-blind, Placebo-controlled Study of the Efficacy and Safety of VX-814 in PiZZ Subjects Not yet recruiting NCT04167345 Phase 2 VX-814;Placebo
42 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 Terminated NCT03114020 Phase 2 Hyaluronic Acid Inhalation Solution;Placebo Inhalation Solution
43 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
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 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
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 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
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 Hyperpolarized 129Xe MR Imaging of the Lung Function in Healthy Volunteers and Subjects With Pulmonary Disease Recruiting NCT01280994 Phase 1 Xenon

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 29 SERPINA1

Anatomical Context for Alpha-1-Antitrypsin Deficiency

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

Liver, Lung, Testes, Skin, Heart, Neutrophil, Eye
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 2398)
# Title Authors PMID Year
alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. 56 6
3040726 1987
Risk for liver disease in adults with alpha 1-antitrypsin deficiency. 61 24 56
6600583 1983
An autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis. 24 56
20522742 2010
Alpha1-antitrypsin deficiency--a model for conformational diseases. 24 56
11778003 2002
Alpha-1 Antitrypsin Deficiency 61 6
20301692 2006
[American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency]. 61 6
15685488 2005
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 56
14616761 2003
Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain. 61 56
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. 61 56
11848724 2002
Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. 61 56
9692092 1998
New insights into the structural basis of alpha 1-antitrypsin deficiency. 61 56
8977959 1996
Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. 61 56
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. 61 56
8090762 1994
The pallid mouse. A model of genetic alpha 1-antitrypsin deficiency. 61 56
8441253 1993
Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site. 61 56
1937480 1991
Alpha-1 antitrypsin deficiency and systemic necrotizing vasculitis. 61 56
1684994 1991
Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. 61 56
2185272 1990
The alpha 1-antitrypsin gene and its deficiency states. 61 56
2696185 1989
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. 61 56
2567291 1989
Alpha 1-antitrypsin deficiency: lessons learned from the bedside to the gene and back again. Historic perspectives. 61 56
2642407 1989
Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis. 61 56
2899055 1988
Alpha 1-antitrypsin deficiency associated with panniculitis. 61 56
3259592 1988
Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction. 61 56
2895285 1988
Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. 61 56
2831367 1988
Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. 61 56
3494198 1987
Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. 61 56
2876232 1986
Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. 61 56
3485248 1986
Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. 61 56
3485249 1986
Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy. 61 56
3486059 1986
Monozygotic twins with alpha 1-antitrypsin deficiency. 61 56
2857896 1985
Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. 61 56
6607413 1984
Reversal of hepatic alpha-1-antitrypsin deposition after portacaval shunt. 61 56
6135912 1983
alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 61 56
6306478 1983
Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency. 61 56
6982619 1982
Alpha 1-antitrypsin deficiency and liver disease. 61 56
6123870 1982
Transport of proteases across neonatal intestine and development of liver disease in infants with alpha-1 antitrypsin deficiency. 61 56
6123724 1982
Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. 61 56
6969850 1981
alpha 1-antitrypsin deficiency and severe infantile liver disease. 61 56
315706 1979
alpha 1-Antitrypsin phenotypes in cor pulmonale due to chronic obstructive airways disease. 61 56
317359 1979
Pulmonary abnormalities in intermediate alpha-1-antitrypsin deficiency. 61 56
1086856 1976
Characterization of alpha1-antitrypsin in the inclusion bodies from the liver in alpha 1-antitrypsin deficiency. 61 56
168490 1975
Alpha 1 antitrypsin deficiency: a study of the relationship between the Pi system and genetic markers. 61 56
830072 1975
Heterozygous alpha 1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association. 61 56
46389 1975
Purification and partial characterization of pas-positive inclusion bodies from the liver in alpha 1-antitrypsin deficiency. 61 56
45843 1975
Demonstration of sialyltransferase deficiency in the serum of a patient with alpha-1-antitrypsin deficiency and hepatic cirrhosis. 61 56
4547176 1974
Basis of the defect in alpha-1-antitrypsin deficiency. 61 56
4542721 1973
Infantile cirrhosis with hereditary alpha 1 -antitrypsin deficiency. Clinical improvement in two siblings. 61 56
4196606 1973
Liver disease in adults with alpha-1 -antitrypsin deficiency. 61 56
4117996 1972
Alpha-1-antitrypsin deficiency and its effect on the liver. 61 56
5095241 1971
Alpha 1 antitrypsin deficiency and pulmonary emphysema. 61 56
4944420 1971

Variations for Alpha-1-Antitrypsin Deficiency

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

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SERPINA1 NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala)SNV Benign, other 17983 rs199422212 14:94849498-94849498 14:94383161-94383161
2 SERPINA1 PI NULL(PROCIDA)deletion Pathogenic 17979
3 SERPINA1 PI NULL(HONG KONG 1)short repeat Pathogenic 17980 rs1057519610 14:94845838-94845839 14:94379501-94379502
4 SERPINA1 NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)SNV Pathogenic 17982 rs121912713 14:94844898-94844898 14:94378561-94378561
5 SERPINA1 NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser)SNV Pathogenic 17986 rs11558261 14:94849160-94849160 14:94382823-94382823
6 SERPINA1 NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)SNV Pathogenic 17987 rs28931572 14:94849228-94849228 14:94382891-94382891
7 SERPINA1 NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)SNV Pathogenic 17992 rs55819880 14:94849345-94849345 14:94383008-94383008
8 SERPINA1 NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs)deletion Pathogenic 17976 rs267606950 14:94849023-94849023 14:94382686-94382686
9 SERPINA1 NM_000295.5(SERPINA1):c.221_223TCT[2] (p.Phe76del)short repeat Pathogenic 315028 rs775982338 14:94849346-94849348 14:94383009-94383011
10 SERPINA1 QOgranite falls alleleundetermined variant Pathogenic 217816
11 SERPINA1 NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)indel Pathogenic 219353 rs864622043 14:94844928-94844935 14:94378591-94378598
12 SERPINA1 NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)SNV Pathogenic 17966 rs28931568 14:94849303-94849303 14:94382966-94382966
13 SERPINA1 NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)SNV Pathogenic 17967 rs28929474 14:94844947-94844947 14:94378610-94378610
14 SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)SNV Pathogenic 17969 rs17580 14:94847262-94847262 14:94380925-94380925
15 SERPINA1 NM_000295.5(SERPINA1):c.288_291del (p.His97fs)deletion Pathogenic 370034 rs1057516212 14:94849284-94849287 14:94382947-94382950
16 SERPINA1 NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)SNV Pathogenic 440487 rs1488213352 14:94844817-94844817 14:94378480-94378480
17 SERPINA1 NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)duplication Pathogenic 440499 rs1555368557 14:94847258-94847259 14:94380921-94380922
18 SERPINA1 NM_001127701.1(SERPINA1):c.647-1delGdeletion Pathogenic 440496 rs1555368758 14:94847478-94847478 14:94381141-94381141
19 SERPINA1 NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)deletion Pathogenic 444037 rs764325655 14:94844885-94844885 14:94378548-94378548
20 SERPINA1 NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer)deletion Pathogenic 444035 rs1555367892 14:94844970-94844971 14:94378633-94378634
21 SERPINA1 NM_000295.5(SERPINA1):c.1064_1066= (p.Lys355_Ala356=)deletion Pathogenic 444034 rs1555367896 14:94844977-94845799 14:94378640-94379462
22 SERPINA1 NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser)SNV Pathogenic 444040 rs1555369172 14:94849348-94849348 14:94383011-94383011
23 SERPINA1 NM_000295.5(SERPINA1):c.1del (p.Met1fs)deletion Pathogenic 444039 rs1555369299 14:94849574-94849574 14:94383237-94383237
24 SERPINA1 NM_000295.5(SERPINA1):c.1130dup (p.Leu377fs)duplication Pathogenic 552891 rs763023697 14:94844912-94844913 14:94378575-94378576
25 SERPINA1 NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)SNV Pathogenic 626306 rs1566753480 14:94847292-94847292 14:94380955-94380955
26 SERPINA1 NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)indel Pathogenic 626303 rs1566756379 14:94848989-94848990 14:94382652-94382653
27 SERPINA1 NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)SNV Pathogenic 626298 rs113817720 14:94849331-94849331 14:94382994-94382994
28 SERPINA1 NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)SNV Pathogenic/Likely pathogenic 219364 rs864622051 14:94849037-94849037 14:94382700-94382700
29 SERPINA1 NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)duplication Pathogenic/Likely pathogenic 188845 rs764325655 14:94844884-94844885 14:94378547-94378548
30 SERPINA1 NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)SNV Pathogenic/Likely pathogenic 17974 rs28931570 14:94849388-94849388 14:94383051-94383051
31 SERPINA1 NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)SNV Pathogenic/Likely pathogenic 17965 rs199422209 14:94844865-94844865 14:94378528-94378528
32 SERPINA1 NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)SNV Pathogenic/Likely pathogenic 17971 rs28931569 14:94849381-94849381 14:94383044-94383044
33 SERPINA1 NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)SNV Likely pathogenic 17977 rs199422211 14:94847404-94847404 14:94381067-94381067
34 SERPINA1 NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg)SNV Likely pathogenic 189018 rs764220898 14:94847380-94847380 14:94381043-94381043
35 SERPINA1 NM_000295.5(SERPINA1):c.646+1G>TSNV Likely pathogenic 189064 rs751235320 14:94848928-94848928 14:94382591-94382591
36 SERPINA1 NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)SNV Likely pathogenic 188854 rs199422210 14:94849023-94849023 14:94382686-94382686
37 SERPINA1 NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)SNV Likely pathogenic 444038 rs1457464431 14:94849406-94849406 14:94383069-94383069
38 SERPINA1 NM_000295.5(SERPINA1):c.1066-1G>TSNV Likely pathogenic 552457 rs1555367897 14:94844978-94844978 14:94378641-94378641
39 SERPINA1 NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)SNV Likely pathogenic 551512 rs1445192595 14:94847471-94847471 14:94381134-94381134
40 SERPINA1 NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys)SNV Likely pathogenic 444044 rs756773408 14:94848929-94848929 14:94382592-94382592
41 SERPINA1 NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg)SNV Likely pathogenic 444036 rs1555367891 14:94844970-94844970 14:94378633-94378633
42 SERPINA1 NM_000295.5(SERPINA1):c.1018del (p.Ala340fs)deletion Likely pathogenic 370999 rs1057516929 14:94845848-94845848 14:94379511-94379511
43 SERPINA1 NM_000295.5(SERPINA1):c.714del (p.Thr239fs)deletion Likely pathogenic 370385 rs1057516448 14:94847411-94847411 14:94381074-94381074
44 SERPINA1 NM_000295.5(SERPINA1):c.646+2T>CSNV Likely pathogenic 371244 rs112661131 14:94848927-94848927 14:94382590-94382590
45 SERPINA1 NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter)SNV Likely pathogenic 371266 rs762321137 14:94849389-94849389 14:94383052-94383052
46 SERPINA1 NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter)SNV Likely pathogenic 370792 rs370038282 14:94849554-94849554 14:94383217-94383217
47 SERPINA1 NM_000295.5(SERPINA1):c.1A>G (p.Met1Val)SNV Likely pathogenic 370522 rs1057516555 14:94849574-94849574 14:94383237-94383237
48 SERPINA1 NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)SNV Likely pathogenic 692116 14:94845908-94845908 14:94379571-94379571
49 SERPINA1 NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)SNV Conflicting interpretations of pathogenicity 315023 rs201774333 14:94844948-94844948 14:94378611-94378611
50 SERPINA1 NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)SNV Conflicting interpretations of pathogenicity 315024 rs150455534 14:94845899-94845899 14:94379562-94379562

Expression for Alpha-1-Antitrypsin Deficiency

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

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

# Super pathways Score Top Affiliating Genes
Show member pathways
3 10.98 F2 ALB AFP

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 region GO:0005576 9.93 TNF SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3
2 extracellular exosome GO:0070062 9.91 SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3 GPT
3 collagen-containing extracellular matrix GO:0062023 9.56 SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3 F2
4 azurophil granule lumen GO:0035578 9.54 SERPINA3 PRTN3 ELANE
5 platelet alpha granule lumen GO:0031093 9.5 SERPINA3 SERPINA1 ALB
6 extracellular space GO:0005615 9.47 TNF SLPI SERPINB1 SERPINA3 SERPINA2 SERPINA1

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.71 SERPINA1 F2 ALB AFP
2 neutrophil degranulation GO:0043312 9.63 SLPI SERPINB1 SERPINA3 SERPINA1 PRTN3 ELANE
3 negative regulation of peptidase activity GO:0010466 9.56 SLPI SERPINB1 SERPINA3 SERPINA1
4 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.43 TNF ELANE
5 transport GO:0006810 9.37 ALB AFP
6 negative regulation of endopeptidase activity GO:0010951 9.35 SLPI SERPINB1 SERPINA3 SERPINA2 SERPINA1
7 neutrophil mediated killing of gram-negative bacterium GO:0070945 9.32 F2 ELANE
8 acute-phase response GO:0006953 8.92 SERPINA3 SERPINA1 HFE F2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 TNF SLPI SERPINB1 SERPINA3 SERPINA2 SERPINA1
2 peptidase inhibitor activity GO:0030414 9.26 SLPI SERPINB1 SERPINA3 SERPINA1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.02 SLPI 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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....