A1ATD
MCID: ALP103
MIFTS: 61

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 59 75 37 29 6 38 40
Alpha 1-Antitrypsin Deficiency 38 12 76 55 44 15 73
Alpha-1 Antitrypsin Deficiency 24 53 25 43 63
Aat Deficiency 12 24 53
Aatd 24 53 25
Emphysema Due to Aat Deficiency 57 13
A1at Deficiency 24 53
A1atd 57 75
Hemorrhagic Diathesis Due to Antithrombin Pittsburgh 57
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 73
Emphysema-Cirrhosis, Due to Aat Deficiency 57
Deficiency in Alpa-1-Proteinase Inhibitor 59
Alpha-1 Protease Inhibitor Deficiency 25
Emphysema, Hereditary Pulmonary 73
Alpha 1 Antitrypsin Deficiency 53
Hereditary Pulmonary Emphysema 25
Alpha-1 Related Emphysema 25
Inherited Emphysema 25
Alpha-1-Antitrypsin 13
Genetic Emphysema 25
Aat 25

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alpha-1-antitrypsin deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613490
Disease Ontology 12 DOID:13372
ICD10 33 E88.01 J43 J43.9
ICD9CM 35 273.4
MeSH 44 D019896
NCIt 50 C84397
SNOMED-CT 68 30188007
Orphanet 59 ORPHA60
ICD10 via Orphanet 34 E88.0
MESH via Orphanet 45 D019896 C531610
UMLS via Orphanet 74 C0221757 C3501835
MedGen 42 C0221757
KEGG 37 H01103

Summaries for Alpha-1-Antitrypsin Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to liver disease and pulmonary emphysema, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Alpha-1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Complement and coagulation cascades and Lung fibrosis. The drugs Serine and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and lung, and related phenotypes are hepatomegaly and emphysema

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.

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.

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)

MedlinePlus : 43 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

UniProtKB/Swiss-Prot : 75 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 : 63 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 : 76 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 281)
# Related Disease Score Top Affiliating Genes
1 liver disease 30.5 ALB HFE SERPINA1 SERPINA3
2 pulmonary emphysema 30.5 ELANE ELN SERPINA1
3 granulomatosis with polyangiitis 30.4 BPI ELANE SERPINA1
4 nodular nonsuppurative panniculitis 30.3 ELANE SERPINA1
5 mycobacterium abscessus 30.3 CXCL8 SERPINA1
6 pneumothorax 30.3 ELN SERPINA1
7 lung disease 30.3 CXCL8 ELANE ELN SERPINA1
8 status asthmaticus 30.1 CXCL8 ELANE
9 heart disease 30.1 ALB CXCL8 ELN SERPINC1
10 pulmonary disease, chronic obstructive 29.9 CXCL8 ELANE ELN SERPINA1 SERPINA3
11 cerebral aneurysms 29.9 ELANE ELN
12 protein-losing enteropathy 29.8 ALB SERPINA1
13 malignant fibroxanthoma 29.8 SERPINA1 SERPINA3
14 vasculitis 29.8 BPI ELANE SERPINA1
15 hepatic tuberculosis 29.8 ALB SERPINA1
16 viral hepatitis 29.7 ALB HFE SERPINA1
17 bronchiectasis 29.6 BPI CXCL8 ELANE SERPINA1 SERPINA3
18 endodermal sinus tumor 29.6 ALB SERPINA1
19 cystic fibrosis 29.6 BPI CXCL8 ELANE SERPINA1
20 bronchitis 29.5 ALB CXCL8 ELANE SERPINA1
21 liver cirrhosis 29.5 ALB HFE SERPINA1 SERPINC1
22 endocarditis 29.4 ALB CXCL8 SERPINC1
23 hemorrhagic fever 29.4 ALB SERPINC1
24 common cold 29.3 ALB CXCL8
25 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 12.1
26 pneumothorax, primary spontaneous 11.2
27 bile acid synthesis defect, congenital, 2 11.2
28 bile acid synthesis defect, congenital, 1 11.2
29 acquired amegakaryocytic thrombocytopenia 11.1
30 ischemic heart disease 10.4
31 panniculitis 10.3
32 lung cancer 10.3
33 acinar cell cystadenocarcinoma 10.2 SERPINA1 SERPINA3
34 inflammatory mfh 10.2 SERPINA1 SERPINA3
35 cutaneous solitary mastocytoma 10.2 SERPINA1 SERPINA3
36 hepatocellular carcinoma 10.2
37 mid-dermal elastolysis 10.2 ELANE ELN
38 elephantiasis 10.2 ELANE ELN
39 reticulohistiocytic granuloma 10.2 SERPINA1 SERPINA3
40 anxiety 10.2
41 pre-eclampsia 10.2
42 chlamydia 10.2
43 eclampsia 10.2
44 cardiac rupture 10.2 CXCL8 ELANE
45 periodontosis 10.2 CXCL8 ELANE
46 viral meningitis 10.2 CXCL8 SERPINA1
47 cyclic neutropenia 10.2 CXCL8 ELANE
48 fibrosarcoma of bone 10.2 SERPINA1 SERPINA3
49 siderosis 10.2 HFE SERPINA1
50 aortic disease 10.2

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
chronic obstructive pulmonary disease
alveolar wall destruction
emphysema especially at bases

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

Neoplasia:
increased hepatocellular carcinoma risk

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

Respiratory Airways:
small airways

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


Clinical features from OMIM:

613490

Human phenotypes related to Alpha-1-Antitrypsin Deficiency:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
2 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
3 hepatitis 59 32 frequent (33%) Frequent (79-30%) HP:0012115
4 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
5 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
6 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
7 dyspnea 32 HP:0002094
8 cirrhosis 32 occasional (7.5%) HP:0001394
9 chronic obstructive pulmonary disease 32 HP:0006510
10 hepatocellular carcinoma 32 HP:0001402
11 elevated hepatic transaminase 32 HP:0002910

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ALB CXCL8 HFE SERPINC1 SERPINI1

Drugs & Therapeutics for Alpha-1-Antitrypsin Deficiency

PubMedHealth treatment related to Alpha-1-Antitrypsin Deficiency: 63

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

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

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 56-45-1 5951
2 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3 Trypsin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Serine Proteinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Alpha 1-Antitrypsin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Protein C Inhibitor Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9
Protein C Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3,Phase 1 302-25-0
11
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
12
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3,Phase 1 2921-57-5
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
14
Mycophenolic acid Approved Phase 3 24280-93-1 446541
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3,Phase 1 2920-86-7
16 Methylprednisolone acetate Phase 2, Phase 3,Phase 1
17 Hormone Antagonists Phase 2, Phase 3,Phase 1
18 glucocorticoids Phase 2, Phase 3,Phase 1
19 Autonomic Agents Phase 2, Phase 3,Phase 1
20 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
22 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
23 Prednisolone acetate Phase 2, Phase 3,Phase 1
24 Hormones Phase 2, Phase 3,Phase 1
25 Neuroprotective Agents Phase 2, Phase 3,Phase 1
26 Antiemetics Phase 2, Phase 3,Phase 1
27 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
28 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
29 Protective Agents Phase 2, Phase 3,Phase 1
30 Anti-Infective Agents Phase 3
31 Anti-Bacterial Agents Phase 3
32 Antibiotics, Antitubercular Phase 3
33 Antitubercular Agents Phase 3
34
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
35
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
36
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
37
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
38 Liver Extracts Phase 2,Phase 1
39 4-phenylbutyric acid Phase 2
40 Central Nervous System Depressants Phase 2,Phase 1
41 Cytochrome P-450 CYP3A Inducers Phase 2
42 Psychotropic Drugs Phase 2
43 Analgesics Phase 2
44 Antimanic Agents Phase 2
45 Tranquilizing Agents Phase 2
46 Anticonvulsants Phase 2
47 Analgesics, Non-Narcotic Phase 2
48 Adjuvants, Immunologic Phase 2
49 Immunologic Factors Phase 2
50 Viscosupplements Phase 2

Interventional clinical trials:

(show top 50) (show all 97)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor) Completed NCT00396006 Phase 4
2 Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency. Completed NCT00670007 Phase 4
3 Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency Completed NCT00261833 Phase 4
4 GLASSIA Infusion Rate Study Completed NCT01651351 Phase 4
5 Aralast alpha1-proteinase Inhibitor 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 A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency Completed NCT02282527 Phase 2, Phase 3
8 Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults Completed NCT00295061 Phase 3 Alpha-1 MP;alpha-1 proteinase inhibitor (human)
9 Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin Deficiency Completed NCT00460096 Phase 2, Phase 3 Kamada-API
10 The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3 alpha-1 proteinase inhibitor (human)
11 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
12 A Study of Mycophenolate Mofetil (CellCept) in Lung Transplant Recipients Completed NCT01014442 Phase 3 mycophenolate mofetil
13 Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD) Recruiting NCT01983241 Phase 3
14 PH 3/4 GLASSIA SAFETY, IMMUNOGENICITY, AND BRONCHOALVEOLAR LAVAGE STUDY Recruiting NCT02525861 Phase 3
15 Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
16 The Safety and Efficacy of Alpha-1 Antitrypsin (AAT) for the Prevention of Graft‑Versus-host Disease (GVHD) in Patients Receiving Hematopoietic Cell Transplant Not yet recruiting NCT03805789 Phase 2, Phase 3
17 Stage 1 Study of ARALAST NP and GLASSIA in A1PI Deficiency Terminated NCT02722304 Phase 3
18 A Phase 2/3 Study of GLASSIA for the Treatment of Acute GvHD Terminated NCT02956122 Phase 2, Phase 3 methylprednisolone or equivalent steroid
19 Safety and Efficacy of (α1Proteinase Inhibitor, α1PI) in HIV Disease Terminated NCT01731691 Phase 2, 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 Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency Completed NCT01213043 Phase 2
22 Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency Completed NCT01054339 Phase 2 rAAV1-CB-hAAT
23 Safety Study 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
24 Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency Completed NCT02870309 Phase 1, Phase 2
25 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
26 Study of 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 Phase II, Safety and ELF Study of "Kamada-API for Inhalation" Completed NCT02001688 Phase 2 Placebo
28 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2 Alpha1-Proteinase Inhibitor (Human);Albumin (Human) 20%, United States Pharmacopeia (USP)
29 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? Completed NCT00067756 Phase 2 4-PBA
30 Safety and Tolerability Trial of Inhaled Alpha1-Proteinase Inhibitor (Human), Hydrophobic Chromatography Process (Alpha-1 HC) in Subjects With Cystic Fibrosis Completed NCT01684410 Phase 2
31 Deposition of Inhaled Prolastin in Cystic Fibrosis Patients Completed NCT00486837 Phase 2 Alpha1-Proteinase Inhibitor (Human)
32 Alpha 1 Anti-Trypsin (AAT) in Treating Patients With Acute Graft-Versus-Host Disease GVHD) Completed NCT01523821 Phase 1, Phase 2 Alpha 1-Proteinase Inhibitor, Human 1 MG [Glassia]
33 A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host Disease Completed NCT01700036 Phase 2 Alpha-1-Antitrypsin (AAT)
34 Phase II Study to Evaluate the Efficacy and Safety of Glassia® in Type-1 Diabetes Completed NCT02005848 Phase 2
35 Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency Recruiting NCT01379469 Phase 2 Drug-Carbamazepine (Tegretol XR);Carbamazepine (Tegretol XR) Placebo
36 A Study of ALN-AAT02 in Healthy Participants and Participants With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease Recruiting NCT03767829 Phase 1, Phase 2 ALN-AAT02;Placebo;ALN-AAT02
37 Efficacy/Safety of HA Inhalation Solution for Hereditary Emphysema in Patients With Alpha-1 Antitrypsin Deficiency Recruiting NCT03114020 Phase 2 Hyaluronic Acid Inhalation Solution;Placebo Inhalation Solution
38 A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo. Recruiting NCT03636347 Phase 2 Placebo Oral Tablet;Alvelestat oral tablet - dose 1;Alvelestat oral tablet - dose 2
39 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Active, not recruiting NCT03008915 Phase 2 Aspirin;Placebo
40 Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency Active, not recruiting NCT02168686 Phase 1, Phase 2
41 Long-term Safety of Alpha1-Proteinase Inhibitor (Human) in Japanese Subjects With Alpha1 Antitrypsin Deficiency (GTI1401-OLE) Enrolling by invitation NCT02870348 Phase 1, Phase 2
42 Alvelestat (MPH996) for the Treatment of ALpha-1 ANTitrypsin Deficiency Not yet recruiting NCT03679598 Phase 2 Alvelestat (MPH996)
43 Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus Terminated NCT02093221 Phase 2
44 Study Comparing Weekly Intravenous Administration of OctaAlpha1 With a Marketed Preparation Glassia® in Subjects With Alpha-1-antitrypsin Deficiency Withdrawn NCT03385395 Phase 2 OctaAlpha1;Glassia
45 Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels Withdrawn NCT02900183 Phase 2 ARC-AAT Injection
46 A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part II Withdrawn NCT01183455 Phase 2 Aralast NP;Placebo
47 Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses Unknown status NCT02087813 Phase 1 Alpha1-antitrypsin;methylprednisolone
48 Pharmacokinetic Study of ARALAST (Human Alpha1- PI) Completed NCT00242385 Phase 1
49 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency Completed NCT00430768 Phase 1
50 Safety and Tolerability Study of Liquid Alpha1 Proteinase Inhibitor (API) in Subjects With Cystic Fibrosis Completed NCT01347190 Phase 1

Search NIH Clinical Center for Alpha-1-Antitrypsin Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Liver, Lung, Testes, Skin, Heart, Neutrophil, Kidney
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 1045)
# Title Authors Year
1
Are There Differences Between the Available Treatments for Emphysema Associated with Alpha-1 Antitrypsin Deficiency? ( 29625713 )
2018
2
Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery. ( 29469675 )
2018
3
Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT). ( 29615836 )
2018
4
Presentation and prognosis of liver disease in alpha-1 antitrypsin deficiency. ( 29768056 )
2018
5
Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population. ( 29393705 )
2018
6
Letter: unlikely liver bedfellows-alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis. ( 29939411 )
2018
7
Letter: unlikely liver bedfellows-alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis. Author's reply. ( 29939419 )
2018
8
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency. ( 29769092 )
2018
9
Was Ugo Foscolo (1778-1827) affected by alpha-1 antitrypsin deficiency? ( 29406986 )
2018
10
Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications. ( 29430176 )
2018
11
Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases. ( 29707779 )
2018
12
Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice. ( 29641323 )
2018
13
Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. ( 29446109 )
2018
14
Impact of a Health Management Program on Healthcare Outcomes among Patients on Augmentation Therapy for Alpha 1-Antitrypsin Deficiency: An Insurance Claims Analysis. ( 29616482 )
2018
15
Clinical Experience with SERPINA1 DNA Sequencing to Detect Alpha-1 Antitrypsin Deficiency. ( 29182883 )
2018
16
Case finding of Alpha-1 antitrypsin deficiency: never wasted time! ( 29387387 )
2018
17
Alpha-1 antitrypsin deficiency: From the lung to the heart? ( 29432934 )
2018
18
Hidden burden of osteoporosis in alpha-1 antitrypsin deficiency. ( 29950358 )
2018
19
Pelvic Organ Prolapse in a Fighter Pilot with Alpha-1 Antitrypsin Deficiency. ( 29233247 )
2018
20
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency. ( 29882371 )
2018
21
Spirituality, Illness Unpredictability, and Math Anxiety Effects on Negative Affect and Affect-Management Coping for Individuals Diagnosed with Alpha-1 Antitrypsin Deficiency. ( 28059573 )
2018
22
Pulmonary MRI morphometry modeling of airspace enlargement in chronic obstructive pulmonary disease and alpha-1 antitrypsin deficiency. ( 28198571 )
2018
23
Survival after lung transplantation in recipients with alpha-1-antitrypsin deficiency compared to other forms of chronic obstructive pulmonary disease: a national cohort study. ( 28833662 )
2018
24
Augmentation therapy for emphysema due to alpha-1 antitrypsin deficiency: Pro. ( 29555450 )
2018
25
Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis. ( 29991100 )
2018
26
Alpha-1 antitrypsin deficiency: outstanding questions and future directions. ( 29996870 )
2018
27
SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency. ( 30009048 )
2018
28
Health status decline in α-1 antitrypsin deficiency: a feasible outcome for disease modifying therapies? ( 30029692 )
2018
29
Cutaneous Manifestation of Alpha-1 Antitrypsin Deficiency: A Case of Panniculitis. ( 30078886 )
2018
30
Alpha-1 Antitrypsin Deficiency as a Candidate for Gene Editing. ( 30096037 )
2018
31
Hyperpolarized 3 He MRI Ventilatory Apparent Diffusion Coefficient of Alpha-1 Antitrypsin Deficiency. ( 30102430 )
2018
32
Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. ( 30103740 )
2018
33
Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. ( 30138687 )
2018
34
Alpha-1 antitrypsin deficiency in a French General Hospital: fortuitous detection rather than efficient screening. ( 30173411 )
2018
35
Genotype is associated with smoking and other key health behaviors among individuals with alpha-1 antitrypsin deficiency-associated lung disease. ( 30261992 )
2018
36
Alpha-1-Antitrypsin Deficiency Liver Disease. ( 30266154 )
2018
37
Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement. ( 30338069 )
2018
38
Surgery for patients with Alpha 1 Antitrypsin Deficiency: A review. ( 30360894 )
2018
39
A Novel Approach to Screening for Alpha-1 Antitrypsin Deficiency: Inpatient Testing at a Teaching Institution. ( 30374448 )
2018
40
Changes in the Melting Point of Hybridization Probes Used for Genotyping in Alpha-1 Antitrypsin Deficiency Do Not Always Imply Errors. ( 30409483 )
2018
41
Endobronchial coil treatment in severe emphysema patients with alpha-1 antitrypsin deficiency. ( 30464447 )
2018
42
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. ( 30473034 )
2018
43
Lung function and CT lung densitometry in 37- to 39-year-old individuals with alpha-1-antitrypsin deficiency. ( 30510411 )
2018
44
Clinical manifestations of the Mmalton alpha-1 antitrypsin deficiency variant. ( 29246524 )
2017
45
Intraoperative Aortic Dissection during Lung Transplantation in a Patient with Alpha-1 Antitrypsin Deficiency. ( 29693942 )
2017
46
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency. ( 29232161 )
2017
47
The Role of Computed Tomography for the Evaluation of Lung Disease in Alpha-1 Antitrypsin Deficiency. ( 29175361 )
2017
48
Therapeutics: Gene Therapy for Alpha-1 Antitrypsin Deficiency. ( 28752467 )
2017
49
Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic Approaches. ( 27855621 )
2017
50
Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia. ( 29318077 )
2017

Variations for Alpha-1-Antitrypsin Deficiency

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

6 (show top 50) (show all 289)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA1 NM_001127701.1(SERPINA1): c.710T> C (p.Val237Ala) single nucleotide variant Benign/Likely benign rs6647 GRCh37 Chromosome 14, 94847415: 94847415
2 SERPINA1 NM_001127701.1(SERPINA1): c.710T> C (p.Val237Ala) single nucleotide variant Benign/Likely benign rs6647 GRCh38 Chromosome 14, 94381078: 94381078
3 SERPINA1 NM_001127701.1(SERPINA1): c.374G> A (p.Arg125His) single nucleotide variant Benign/Likely benign, other rs709932 GRCh37 Chromosome 14, 94849201: 94849201
4 SERPINA1 NM_001127701.1(SERPINA1): c.374G> A (p.Arg125His) single nucleotide variant Benign/Likely benign, other rs709932 GRCh38 Chromosome 14, 94382864: 94382864
5 SERPINA1 NM_001127701.1(SERPINA1): c.1200A> C (p.Glu400Asp) single nucleotide variant Benign/Likely benign, other rs1303 GRCh37 Chromosome 14, 94844843: 94844843
6 SERPINA1 NM_001127701.1(SERPINA1): c.1200A> C (p.Glu400Asp) single nucleotide variant Benign/Likely benign, other rs1303 GRCh38 Chromosome 14, 94378506: 94378506
7 SERPINA1 NM_001127701.1(SERPINA1): c.739C> T (p.Arg247Cys) single nucleotide variant Uncertain significance rs28929470 GRCh37 Chromosome 14, 94847386: 94847386
8 SERPINA1 NM_001127701.1(SERPINA1): c.739C> T (p.Arg247Cys) single nucleotide variant Uncertain significance rs28929470 GRCh38 Chromosome 14, 94381049: 94381049
9 SERPINA1 NM_000295.4(SERPINA1): c.1093G> A (p.Asp365Asn) single nucleotide variant Likely benign rs143370956 GRCh37 Chromosome 14, 94844950: 94844950
10 SERPINA1 NM_000295.4(SERPINA1): c.1093G> A (p.Asp365Asn) single nucleotide variant Likely benign rs143370956 GRCh38 Chromosome 14, 94378613: 94378613
11 SERPINA1 NM_001127701.1(SERPINA1): c.682G> A (p.Glu228Lys) single nucleotide variant Uncertain significance rs199422208 GRCh37 Chromosome 14, 94847443: 94847443
12 SERPINA1 NM_001127701.1(SERPINA1): c.682G> A (p.Glu228Lys) single nucleotide variant Uncertain significance rs199422208 GRCh38 Chromosome 14, 94381106: 94381106
13 SERPINA1 NM_001127701.1(SERPINA1): c.1159G> A (p.Glu387Lys) single nucleotide variant Uncertain significance rs121912712 GRCh37 Chromosome 14, 94844884: 94844884
14 SERPINA1 NM_001127701.1(SERPINA1): c.1159G> A (p.Glu387Lys) single nucleotide variant Uncertain significance rs121912712 GRCh38 Chromosome 14, 94378547: 94378547
15 SERPINA1 NM_001127701.1(SERPINA1): c.1178C> T (p.Pro393Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199422209 GRCh37 Chromosome 14, 94844865: 94844865
16 SERPINA1 NM_001127701.1(SERPINA1): c.1178C> T (p.Pro393Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199422209 GRCh38 Chromosome 14, 94378528: 94378528
17 SERPINA1 NM_001127701.1(SERPINA1): c.272G> A (p.Gly91Glu) single nucleotide variant Pathogenic rs28931568 GRCh37 Chromosome 14, 94849303: 94849303
18 SERPINA1 NM_001127701.1(SERPINA1): c.272G> A (p.Gly91Glu) single nucleotide variant Pathogenic rs28931568 GRCh38 Chromosome 14, 94382966: 94382966
19 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
20 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh38 Chromosome 14, 94378610: 94378610
21 SERPINA1 NM_001127701.1(SERPINA1): c.863A> T (p.Glu288Val) single nucleotide variant Pathogenic rs17580 GRCh37 Chromosome 14, 94847262: 94847262
22 SERPINA1 NM_001127701.1(SERPINA1): c.863A> T (p.Glu288Val) single nucleotide variant Pathogenic rs17580 GRCh38 Chromosome 14, 94380925: 94380925
23 SERPINA1 NM_001127701.1(SERPINA1): c.17C> T (p.Ser6Leu) single nucleotide variant Uncertain significance rs140814100 GRCh37 Chromosome 14, 94849558: 94849558
24 SERPINA1 NM_001127701.1(SERPINA1): c.17C> T (p.Ser6Leu) single nucleotide variant Uncertain significance rs140814100 GRCh38 Chromosome 14, 94383221: 94383221
25 SERPINA1 NM_001127701.1(SERPINA1): c.194T> C (p.Leu65Pro) single nucleotide variant Likely pathogenic rs28931569 GRCh37 Chromosome 14, 94849381: 94849381
26 SERPINA1 NM_001127701.1(SERPINA1): c.194T> C (p.Leu65Pro) single nucleotide variant Likely pathogenic rs28931569 GRCh38 Chromosome 14, 94383044: 94383044
27 SERPINA1 NM_000295.4(SERPINA1): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance rs112030253 GRCh37 Chromosome 14, 94849061: 94849061
28 SERPINA1 NM_000295.4(SERPINA1): c.514G> A (p.Gly172Arg) single nucleotide variant Uncertain significance rs112030253 GRCh38 Chromosome 14, 94382724: 94382724
29 SERPINA1 NM_001127701.1(SERPINA1): c.187C> T (p.Arg63Cys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28931570 GRCh37 Chromosome 14, 94849388: 94849388
30 SERPINA1 NM_001127701.1(SERPINA1): c.187C> T (p.Arg63Cys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28931570 GRCh38 Chromosome 14, 94383051: 94383051
31 SERPINA1 NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912714 GRCh37 Chromosome 14, 94847286: 94847286
32 SERPINA1 NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912714 GRCh38 Chromosome 14, 94380949: 94380949
33 SERPINA1 NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs) deletion Pathogenic rs267606950 GRCh37 Chromosome 14, 94849023: 94849023
34 SERPINA1 NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs) deletion Pathogenic rs267606950 GRCh38 Chromosome 14, 94382686: 94382686
35 SERPINA1 NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs199422211 GRCh37 Chromosome 14, 94847404: 94847404
36 SERPINA1 NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs199422211 GRCh38 Chromosome 14, 94381067: 94381067
37 SERPINA1 PI NULL(PROCIDA) deletion Pathogenic
38 SERPINA1 PI NULL(HONG KONG 1) deletion Pathogenic rs1057519610 GRCh38 Chromosome 14, 94379501: 94379502
39 SERPINA1 PI NULL(HONG KONG 1) deletion Pathogenic rs1057519610 GRCh37 Chromosome 14, 94845838: 94845839
40 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh37 Chromosome 14, 94844898: 94844898
41 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh38 Chromosome 14, 94378561: 94378561
42 SERPINA1 NM_001127701.1(SERPINA1): c.77A> C (p.Asp26Ala) single nucleotide variant Benign, other rs199422212 GRCh37 Chromosome 14, 94849498: 94849498
43 SERPINA1 NM_001127701.1(SERPINA1): c.77A> C (p.Asp26Ala) single nucleotide variant Benign, other rs199422212 GRCh38 Chromosome 14, 94383161: 94383161
44 SERPINA1 NM_000295.4(SERPINA1): c.1078G> A (p.Ala360Thr) single nucleotide variant Pathogenic rs1802959 GRCh37 Chromosome 14, 94844965: 94844965
45 SERPINA1 NM_000295.4(SERPINA1): c.1078G> A (p.Ala360Thr) single nucleotide variant Pathogenic rs1802959 GRCh38 Chromosome 14, 94378628: 94378628
46 SERPINA1 NM_001127701.1(SERPINA1): c.415G> A (p.Gly139Ser) single nucleotide variant Pathogenic rs11558261 GRCh37 Chromosome 14, 94849160: 94849160
47 SERPINA1 NM_001127701.1(SERPINA1): c.415G> A (p.Gly139Ser) single nucleotide variant Pathogenic rs11558261 GRCh38 Chromosome 14, 94382823: 94382823
48 SERPINA1 NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic rs28931572 GRCh37 Chromosome 14, 94849228: 94849228
49 SERPINA1 NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic rs28931572 GRCh38 Chromosome 14, 94382891: 94382891
50 SERPINA1 NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe) single nucleotide variant Pathogenic rs55819880 GRCh37 Chromosome 14, 94849345: 94849345

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:

37
# 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
1 10.6 CXCL8 ELN SERPINA1
2 10.55 ELANE ELN

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 9.87 ALB BPI ELANE SERPINA1 SERPINA3 SERPINC1
2 extracellular region GO:0005576 9.61 ALB BPI CXCL8 ELANE ELN SERPINA1
3 blood microparticle GO:0072562 9.58 ALB SERPINA3 SERPINC1
4 collagen-containing extracellular matrix GO:0062023 9.55 ELANE ELN SERPINA1 SERPINA3 SERPINC1
5 azurophil granule lumen GO:0035578 9.54 BPI ELANE SERPINA3
6 platelet alpha granule lumen GO:0031093 9.43 ALB SERPINA1 SERPINA3
7 extracellular space GO:0005615 9.28 ALB BPI CXCL8 ELANE HFE SERPINA1

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 9.67 BPI ELANE SERPINA1 SERPINA3
2 cellular protein metabolic process GO:0044267 9.58 ALB SERPINA1 SERPINC1
3 platelet degranulation GO:0002576 9.5 ALB SERPINA1 SERPINA3
4 regulation of cell adhesion GO:0030155 9.43 CXCL8 SERPINI1
5 acute-phase response GO:0006953 9.33 HFE SERPINA1 SERPINA3
6 acute inflammatory response to antigenic stimulus GO:0002438 9.26 ELANE SERPINC1
7 negative regulation of endopeptidase activity GO:0010951 9.26 SERPINA1 SERPINA3 SERPINC1 SERPINI1
8 negative regulation of peptidase activity GO:0010466 8.92 SERPINA1 SERPINA3 SERPINC1 SERPINI1

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.33 ELANE SERPINA1 SERPINC1
2 peptidase inhibitor activity GO:0030414 9.26 SERPINA1 SERPINA3 SERPINC1 SERPINI1
3 serine-type endopeptidase inhibitor activity GO:0004867 8.92 SERPINA1 SERPINA3 SERPINC1 SERPINI1

Sources for Alpha-1-Antitrypsin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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