MCID: ALP103
MIFTS: 61

Alpha-1-Antitrypsin Deficiency

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

Aliases & Classifications for Alpha-1-Antitrypsin Deficiency

MalaCards integrated aliases for Alpha-1-Antitrypsin Deficiency:

Name: Alpha-1-Antitrypsin Deficiency 57 59 75 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
Alpha-1-Antitrypsin Deficiency 37
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 154771007 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 a hereditary disease where there is an increased risk of having chronic obstructive pulmonary disease (COPD), liver  disease, and also skin problems (panniculitis) and vasculitis. Pulmonary problems occur in adults and liver disease (cirrhosis) in children and adults.  Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. Signs and symptoms may include shortness of breath and wheezing, repeated infections of the lungs in the liver, yellow skin, fatigue, rapid heartbeat when standing, vision problems, and weight loss. However, some people with AATD may not have any problems. AATD is caused by mutations in the SERPINA1 gene and it is inherited in a codominant manner. The mutations result in a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lung damage, therefore, having low levels of ATT (or no ATT) may damage the lungs. In liver damage result when AAT is abnormally accumulated. Treatment is done by administrating AAT. It may also include bronchodilators; antibiotics for upper respiratory tract infections; and/or lung transplantation in severe cases.

MalaCards based summary : Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to pulmonary emphysema and liver disease, and has symptoms including coughing, hemoptysis and snoring. 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 Alpha 1-Antitrypsin have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and lung, and related phenotypes are nephrotic syndrome and jaundice

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 134)
# Related Disease Score Top Affiliating Genes
1 pulmonary emphysema 30.4 ELANE ELN SERPINA1
2 liver disease 30.4 ALB HFE SERPINA1
3 hepatic tuberculosis 30.3 ALB SERPINA1
4 lung disease 29.6 CXCL8 ELANE ELN SERPINA1
5 disseminated intravascular coagulation 29.4 ELANE SERPINC1
6 vasculitis 29.2 BPI ELANE SERPINA1
7 pulmonary disease, chronic obstructive 29.0 CXCL8 ELANE ELN SERPINA1 SERPINA3
8 liver cirrhosis 28.5 ALB HFE SERPINA1 SERPINC1
9 cystic fibrosis 27.8 BPI CXCL8 ELANE ELN SERPINA1
10 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 12.0
11 pneumothorax, primary spontaneous 11.0
12 bile acid synthesis defect, congenital, 2 11.0
13 bile acid synthesis defect, congenital, 1 11.0
14 acquired amegakaryocytic thrombocytopenia 10.9
15 acinar cell cystadenocarcinoma 10.7 SERPINA1 SERPINA3
16 inflammatory mfh 10.7 SERPINA1 SERPINA3
17 cutaneous solitary mastocytoma 10.7 SERPINA1 SERPINA3
18 pancreatic cystadenocarcinoma 10.7 SERPINA1 SERPINA3
19 cerebral aneurysms 10.7 ELANE ELN
20 mid-dermal elastolysis 10.7 ELANE ELN
21 elephantiasis 10.7 ELANE ELN
22 reticulohistiocytic granuloma 10.7 SERPINA1 SERPINA3
23 erysipelas 10.7 ELANE ELN
24 nodular nonsuppurative panniculitis 10.6 ELANE SERPINA1
25 fibrosarcoma of bone 10.6 SERPINA1 SERPINA3
26 secretory meningioma 10.6 SERPINA1 SERPINA3
27 malignant fibroxanthoma 10.6 SERPINA1 SERPINA3
28 felty syndrome 10.6 CXCL8 ELANE
29 mycobacterium abscessus 10.6 CXCL8 SERPINA1
30 cardiac rupture 10.6 CXCL8 ELANE
31 siderosis 10.6 HFE SERPINA1
32 cyclic neutropenia 10.6 CXCL8 ELANE
33 status asthmaticus 10.5 CXCL8 ELANE
34 constrictive pericarditis 10.5 ALB SERPINA1
35 periodontosis 10.5 CXCL8 ELANE
36 pasteurellosis 10.5 ALB ELANE
37 pneumothorax 10.5 ELN SERPINA1
38 transient arthritis 10.5 ALB SERPINA1
39 polyposis, skin pigmentation, alopecia, and fingernail changes 10.5 ALB SERPINA1
40 viral meningitis 10.5 CXCL8 SERPINA1
41 protein-losing enteropathy 10.5 ALB SERPINA1
42 endodermal sinus tumor 10.5 ALB SERPINA1
43 bronchopulmonary dysplasia 10.4 CXCL8 ELANE
44 acute respiratory distress syndrome 10.4 CXCL8 ELANE
45 subendocardial myocardial infarction 10.4 SERPINA1 SERPINC1
46 plasma protein metabolism disease 10.4 ELANE SERPINA1 SERPINA3
47 platelet aggregation, spontaneous 10.4 SERPINA3 SERPINC1
48 pyuria 10.3 ALB CXCL8
49 noma 10.3 ALB CXCL8
50 chorioamnionitis 10.3 CXCL8 ELANE

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

UMLS symptoms related to Alpha-1-Antitrypsin Deficiency:


coughing, hemoptysis, snoring

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 119)
# 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 Alpha 1-Antitrypsin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3 HIV Protease 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 Protein C Inhibitor Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Serine Proteinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Trypsin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9
Protein C Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
12
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 3 24280-93-1 446541
14 Antiemetics Phase 2, Phase 3,Phase 1
15 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
16 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
17 Autonomic Agents Phase 2, Phase 3,Phase 1
18 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
19 glucocorticoids Phase 2, Phase 3,Phase 1
20 Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Hormones Phase 2, Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
23 Methylprednisolone acetate Phase 2, Phase 3,Phase 1
24 Methylprednisolone Hemisuccinate Phase 2, Phase 3,Phase 1
25 Neuroprotective Agents Phase 2, Phase 3,Phase 1
26 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
27 Prednisolone acetate Phase 2, Phase 3,Phase 1
28 Prednisolone hemisuccinate Phase 2, Phase 3,Phase 1
29 Prednisolone phosphate Phase 2, Phase 3,Phase 1
30 Protective Agents Phase 2, Phase 3,Phase 1
31 Anti-Bacterial Agents Phase 3
32 Antibiotics, Antitubercular Phase 3
33 Anti-Infective Agents Phase 3
34 Antitubercular Agents Phase 3
35
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
36
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
37
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
38
Butyric Acid Experimental, Investigational Phase 2 107-92-6 264
39 4-phenylbutyric acid Phase 2
40 Liver Extracts Phase 2,Phase 1
41 Analgesics Phase 2
42 Analgesics, Non-Narcotic Phase 2
43 Anticonvulsants Phase 2
44 Antimanic Agents Phase 2
45 Central Nervous System Depressants Phase 2
46 Cytochrome P-450 CYP3A Inducers Phase 2
47 Psychotropic Drugs Phase 2
48 Tranquilizing Agents Phase 2
49 Adjuvants, Immunologic Phase 2
50 Viscosupplements Phase 2

Interventional clinical trials:

(show top 50) (show all 89)
# 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 Stage 1 Study of ARALAST NP and GLASSIA in A1PI Recruiting NCT02722304 Phase 4
6 Aralast alpha1-proteinase Inhibitor Surveillance Study Terminated NCT00313144 Phase 4 ARALAST Alpha1-Proteinase Inhibitor
7 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 Phase 2, Phase 3
8 A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency Completed NCT02282527 Phase 2, Phase 3
9 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)
10 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
11 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)
12 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
13 A Study of Mycophenolate Mofetil (CellCept) in Lung Transplant Recipients Completed NCT01014442 Phase 3 mycophenolate mofetil
14 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
15 PH 3/4 GLASSIA SAFETY, IMMUNOGENICITY, AND BRONCHOALVEOLAR LAVAGE STUDY Recruiting NCT02525861 Phase 3
16 Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
17 A Phase 2/3 Study of GLASSIA for the Treatment of Acute GvHD Terminated NCT02956122 Phase 2, Phase 3 methylprednisolone or equivalent steroid
18 Safety and Efficacy of (α1Proteinase Inhibitor, α1PI) in HIV Disease Terminated NCT01731691 Phase 2, Phase 3
19 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
20 Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency Completed NCT01213043 Phase 2
21 Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency Completed NCT01054339 Phase 2 rAAV1-CB-hAAT
22 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
23 Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency Completed NCT02870309 Phase 1, Phase 2
24 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2 Alpha-1 Antitrypsin (human)
25 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
26 Phase II, Safety and ELF Study of "Kamada-API for Inhalation" Completed NCT02001688 Phase 2 Placebo
27 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)
28 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? Completed NCT00067756 Phase 2 4-PBA
29 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
30 Deposition of Inhaled Prolastin in Cystic Fibrosis Patients Completed NCT00486837 Phase 2 Alpha1-Proteinase Inhibitor (Human)
31 Alpha 1 Anti-Trypsin in Treating Patients With Acute Graft-Versus-Host Disease Completed NCT01523821 Phase 1, Phase 2
32 Phase II Study to Evaluate the Efficacy and Safety of Glassia® in Type-1 Diabetes Completed NCT02005848 Phase 2
33 Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency Recruiting NCT01379469 Phase 2 Drug-Carbamazepine (Tegretol XR);Carbamazepine (Tegretol XR) Placebo
34 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
35 Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency Recruiting NCT02168686 Phase 1, Phase 2
36 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Active, not recruiting NCT03008915 Phase 2 Aspirin;Placebo
37 A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host Disease Active, not recruiting NCT01700036 Phase 2 Alpha-1-Antitrypsin (AAT)
38 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
39 A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease Terminated NCT02503683 Phase 1, Phase 2 ALN-AAT;Sterile Normal Saline (0.9% NaCl)
40 Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus Terminated NCT02093221 Phase 2
41 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
42 Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels Withdrawn NCT02900183 Phase 2 ARC-AAT Injection
43 A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part II Withdrawn NCT01183455 Phase 2 Aralast NP;Placebo
44 Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses Unknown status NCT02087813 Phase 1 Alpha1-antitrypsin;methylprednisolone
45 Pharmacokinetic Study of ARALAST (Human Alpha1- PI) Completed NCT00242385 Phase 1
46 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency Completed NCT00430768 Phase 1
47 Safety and Tolerability Study of Liquid Alpha1 Proteinase Inhibitor (API) in Subjects With Cystic Fibrosis Completed NCT01347190 Phase 1
48 Study of ARO-AAT in Normal Adult Volunteers Recruiting NCT03362242 Phase 1 ARO-AAT Injection
49 A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD) Terminated NCT02363946 Phase 1 ARC-AAT Injection
50 Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency Unknown status NCT02547532

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, Skeletal Muscle, Neutrophil
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 Potential therapeutic candidate, affected by disease

Publications for Alpha-1-Antitrypsin Deficiency

Articles related to Alpha-1-Antitrypsin Deficiency:

(show top 50) (show all 423)
# Title Authors Year
1
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency. ( 29769092 )
2018
2
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
3
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency. ( 29882371 )
2018
4
Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia. ( 29318077 )
2017
5
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. ( 28617828 )
2017
6
Intensive smoking diminishes the differences in quality of life and exacerbation frequency between the alpha-1-antitrypsin deficiency genotypes PiZZ and PiSZ. ( 29206626 )
2017
7
Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach. ( 27877030 )
2016
8
Historical role of alpha-1-antitrypsin deficiency in respiratory and hepatic complications. ( 26768576 )
2016
9
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. ( 26831755 )
2016
10
Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015. ( 27282198 )
2016
11
Free light chains: potential biomarker and predictor of mortality in alpha-1-antitrypsin deficiency and usual COPD. ( 27036487 )
2016
12
Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults? ( 26946192 )
2016
13
Delayed diagnosis of alpha-1-antitrypsin deficiency following post-hepatectomy liver failure: A case report. ( 27004008 )
2016
14
Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden. ( 27555756 )
2016
15
Antineutrophil cytoplasmic antibodies (ANCA)-negative vasculitis in a patient with alpha-1-antitrypsin deficiency. ( 26603444 )
2016
16
Sex differences in alpha-1-antitrypsin deficiency lung disease-analysis from the German registry. ( 25938294 )
2015
17
In Vitro Evaluation of a Novel mRNA-Based Therapeutic Strategy for the Treatment of Patients Suffering from Alpha-1-Antitrypsin Deficiency. ( 26125662 )
2015
18
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. ( 26310624 )
2015
19
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. ( 26672964 )
2015
20
Lung Transplantation in Alpha-1-Antitrypsin Deficiency. ( 26488418 )
2015
21
The Relationship of the Fibrinogen Cleavage Biomarker AI+-Val360 with Disease Severity and Activity in Alpha-1-antitrypsin Deficiency. ( 25569856 )
2015
22
Severe postoperative wound healing disturbance in a patient with alpha-1-antitrypsin deficiency: the impact of augmentation therapy. ( 25818083 )
2015
23
Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. ( 26341117 )
2015
24
Combined alpha-1-antitrypsin deficiency and mannose-binding lectin deficiency. ( 26519979 )
2015
25
Lung Function and CT Densitometry in Subjects with alpha-1-Antitrypsin Deficiency and Healthy Controls at 35 Years of Age. ( 25280185 )
2014
26
Alpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis. ( 25518532 )
2014
27
Advances in alpha-1-antitrypsin deficiency liver disease. ( 24338605 )
2014
28
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? ( 24969923 )
2014
29
Alpha-1-antitrypsin deficiency panniculitis presenting with severe anasarca, pulmonary embolus and hypogammaglobulinaemia. ( 25495349 )
2014
30
Introducing standards of the best medical practice for patients with inherited alpha-1-antitrypsin deficiency in central eastern Europe. ( 24798601 )
2014
31
Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases. ( 25025052 )
2014
32
Peripheral blood hematopoietic stem and progenitor cell frequency is unchanged in patients with alpha-1-antitrypsin deficiency. ( 24752699 )
2014
33
Molecular pathogenesis of alpha-1-antitrypsin deficiency. ( 25442121 )
2014
34
One- to four-year follow-up of endobronchial lung volume reduction in alpha-1-antitrypsin deficiency patients: a case series. ( 25227936 )
2014
35
Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype. ( 23664631 )
2013
36
Alpha-1-Antitrypsin Deficiency Associated With the Mattawa Variant. ( 24183282 )
2013
37
Disease associations in alpha-1-antitrypsin deficiency. ( 24176989 )
2013
38
Alpha-1-Antitrypsin Deficiency: An Important Cause of Pediatric Liver Disease. ( 27019872 )
2013
39
Prevalence and radiological outcomes ofA lung nodules in alpha 1-antitrypsin deficiency. ( 23337299 )
2013
40
Proteinase 3 activity in sputum from subjects with alpha-1-antitrypsin deficiency and COPD. ( 22936713 )
2013
41
Probable dalteparin-induced hepatotoxicity in a man with alpha-1-antitrypsin deficiency. ( 22167567 )
2012
42
Oxidative stress contributes to liver damage in a murine model of alpha-1-antitrypsin deficiency. ( 23104507 )
2012
43
Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases. ( 22971141 )
2012
44
Discrimination between COPD patients with and without alpha 1-antitrypsin deficiency using an electronic nose. ( 21883674 )
2011
45
Severe ulcerative panniculitis caused by alpha 1-antitrypsin deficiency: remission induced and maintained with intravenous alpha 1-antitrypsin. ( 21679830 )
2011
46
CT lung densitometry in young adults with alpha-1-antitrypsin deficiency. ( 20674322 )
2011
47
Alpha-1-antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates. ( 20707674 )
2011
48
The role of autophagy in alpha-1-antitrypsin deficiency. ( 21683248 )
2011
49
A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype. ( 22078084 )
2011
50
Alpha-1-antitrypsin deficiency and periodontitis, a pilot study. ( 21591598 )
2011

Variations for Alpha-1-Antitrypsin Deficiency

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

6
(show top 50) (show all 255)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA1 NM_001127701.1(SERPINA1): c.1178C> T (p.Pro393Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199422209 GRCh37 Chromosome 14, 94844865: 94844865
2 SERPINA1 NM_001127701.1(SERPINA1): c.1178C> T (p.Pro393Leu) single nucleotide variant Pathogenic/Likely pathogenic rs199422209 GRCh38 Chromosome 14, 94378528: 94378528
3 SERPINA1 NM_001127701.1(SERPINA1): c.272G> A (p.Gly91Glu) single nucleotide variant Pathogenic rs28931568 GRCh37 Chromosome 14, 94849303: 94849303
4 SERPINA1 NM_001127701.1(SERPINA1): c.272G> A (p.Gly91Glu) single nucleotide variant Pathogenic rs28931568 GRCh38 Chromosome 14, 94382966: 94382966
5 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
6 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh38 Chromosome 14, 94378610: 94378610
7 SERPINA1 NM_001127701.1(SERPINA1): c.863A> T (p.Glu288Val) single nucleotide variant Pathogenic rs17580 GRCh37 Chromosome 14, 94847262: 94847262
8 SERPINA1 NM_001127701.1(SERPINA1): c.863A> T (p.Glu288Val) single nucleotide variant Pathogenic rs17580 GRCh38 Chromosome 14, 94380925: 94380925
9 SERPINA1 NM_001127701.1(SERPINA1): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs28931569 GRCh37 Chromosome 14, 94849381: 94849381
10 SERPINA1 NM_001127701.1(SERPINA1): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs28931569 GRCh38 Chromosome 14, 94383044: 94383044
11 SERPINA1 NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912714 GRCh37 Chromosome 14, 94847286: 94847286
12 SERPINA1 NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val) single nucleotide variant Pathogenic/Likely pathogenic rs121912714 GRCh38 Chromosome 14, 94380949: 94380949
13 SERPINA1 NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs) deletion Pathogenic rs267606950 GRCh37 Chromosome 14, 94849023: 94849023
14 SERPINA1 NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs) deletion Pathogenic rs267606950 GRCh38 Chromosome 14, 94382686: 94382686
15 SERPINA1 NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs199422211 GRCh37 Chromosome 14, 94847404: 94847404
16 SERPINA1 NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs199422211 GRCh38 Chromosome 14, 94381067: 94381067
17 SERPINA1 PI NULL(PROCIDA) deletion Pathogenic
18 SERPINA1 PI NULL(HONG KONG 1) deletion Pathogenic rs1057519610 GRCh38 Chromosome 14, 94379501: 94379502
19 SERPINA1 PI NULL(HONG KONG 1) deletion Pathogenic rs1057519610 GRCh37 Chromosome 14, 94845838: 94845839
20 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh37 Chromosome 14, 94844898: 94844898
21 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh38 Chromosome 14, 94378561: 94378561
22 SERPINA1 NM_000295.4(SERPINA1): c.1078G> A (p.Ala360Thr) single nucleotide variant Pathogenic rs1802959 GRCh37 Chromosome 14, 94844965: 94844965
23 SERPINA1 NM_000295.4(SERPINA1): c.1078G> A (p.Ala360Thr) single nucleotide variant Pathogenic rs1802959 GRCh38 Chromosome 14, 94378628: 94378628
24 SERPINA1 NM_001127701.1(SERPINA1): c.415G> A (p.Gly139Ser) single nucleotide variant Pathogenic rs11558261 GRCh37 Chromosome 14, 94849160: 94849160
25 SERPINA1 NM_001127701.1(SERPINA1): c.415G> A (p.Gly139Ser) single nucleotide variant Pathogenic rs11558261 GRCh38 Chromosome 14, 94382823: 94382823
26 SERPINA1 NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic rs28931572 GRCh37 Chromosome 14, 94849228: 94849228
27 SERPINA1 NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic rs28931572 GRCh38 Chromosome 14, 94382891: 94382891
28 SERPINA1 NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe) single nucleotide variant Pathogenic rs55819880 GRCh37 Chromosome 14, 94849345: 94849345
29 SERPINA1 NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe) single nucleotide variant Pathogenic rs55819880 GRCh38 Chromosome 14, 94383008: 94383008
30 SERPINA1 NM_001127701.1(SERPINA1): c.326C> T (p.Thr109Met) single nucleotide variant Likely pathogenic rs199422213 GRCh37 Chromosome 14, 94849249: 94849249
31 SERPINA1 NM_001127701.1(SERPINA1): c.326C> T (p.Thr109Met) single nucleotide variant Likely pathogenic rs199422213 GRCh38 Chromosome 14, 94382912: 94382912
32 SERPINA1 NM_000295.4(SERPINA1): c.840T> C (p.Asp280=) single nucleotide variant Benign/Likely benign rs1049800 GRCh37 Chromosome 14, 94847285: 94847285
33 SERPINA1 NM_000295.4(SERPINA1): c.840T> C (p.Asp280=) single nucleotide variant Benign/Likely benign rs1049800 GRCh38 Chromosome 14, 94380948: 94380948
34 SERPINA1 NM_000295.4(SERPINA1): c.424C> T (p.Leu142=) single nucleotide variant Benign/Likely benign rs20546 GRCh37 Chromosome 14, 94849151: 94849151
35 SERPINA1 NM_000295.4(SERPINA1): c.424C> T (p.Leu142=) single nucleotide variant Benign/Likely benign rs20546 GRCh38 Chromosome 14, 94382814: 94382814
36 SERPINA1 NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs) duplication Likely pathogenic rs764325655 GRCh37 Chromosome 14, 94844885: 94844885
37 SERPINA1 NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs) duplication Likely pathogenic rs764325655 GRCh38 Chromosome 14, 94378548: 94378548
38 SERPINA1 NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg) single nucleotide variant Likely pathogenic rs764220898 GRCh38 Chromosome 14, 94381043: 94381043
39 SERPINA1 NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg) single nucleotide variant Likely pathogenic rs764220898 GRCh37 Chromosome 14, 94847380: 94847380
40 SERPINA1 NM_000295.4(SERPINA1): c.646+1G> T single nucleotide variant Likely pathogenic rs751235320 GRCh37 Chromosome 14, 94848928: 94848928
41 SERPINA1 NM_000295.4(SERPINA1): c.646+1G> T single nucleotide variant Likely pathogenic rs751235320 GRCh38 Chromosome 14, 94382591: 94382591
42 SERPINA1 NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs199422210 GRCh37 Chromosome 14, 94849023: 94849023
43 SERPINA1 NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs199422210 GRCh38 Chromosome 14, 94382686: 94382686
44 SERPINA1 QOgranite falls allele undetermined variant Pathogenic
45 SERPINA1 NM_001127701.1(SERPINA1): c.1208C> T (p.Thr403Ile) single nucleotide variant Likely benign rs778747339 GRCh37 Chromosome 14, 94844835: 94844835
46 SERPINA1 NM_001127701.1(SERPINA1): c.1208C> T (p.Thr403Ile) single nucleotide variant Likely benign rs778747339 GRCh38 Chromosome 14, 94378498: 94378498
47 SERPINA1 NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr) single nucleotide variant Pathogenic rs61761869 GRCh38 Chromosome 14, 94378529: 94378529
48 SERPINA1 NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr) single nucleotide variant Pathogenic rs61761869 GRCh37 Chromosome 14, 94844866: 94844866
49 SERPINA1 NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) indel Pathogenic rs864622043 GRCh37 Chromosome 14, 94844928: 94844935
50 SERPINA1 NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) indel Pathogenic rs864622043 GRCh38 Chromosome 14, 94378591: 94378598

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 endoplasmic reticulum lumen GO:0005788 9.58 ALB SERPINA1 SERPINC1
4 blood microparticle GO:0072562 9.54 ALB SERPINA3 SERPINC1
5 azurophil granule lumen GO:0035578 9.43 BPI ELANE SERPINA3
6 platelet alpha granule lumen GO:0031093 9.33 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 antimicrobial humoral response GO:0019730 9.48 BPI ELANE
5 hemostasis GO:0007599 9.46 SERPINA1 SERPINC1
6 regulation of cell adhesion GO:0030155 9.43 CXCL8 SERPINI1
7 acute-phase response GO:0006953 9.33 HFE SERPINA1 SERPINA3
8 acute inflammatory response to antigenic stimulus GO:0002438 9.26 ELANE SERPINC1
9 negative regulation of endopeptidase activity GO:0010951 9.26 SERPINA1 SERPINA3 SERPINC1 SERPINI1
10 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
Content
Loading form....