A1ATD
MCID: ALP103
MIFTS: 62

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 58 60 76 38 30 6 39 41
Alpha 1-Antitrypsin Deficiency 39 12 77 56 45 15 74
Alpha-1 Antitrypsin Deficiency 25 54 26 44 64
Aat Deficiency 12 25 54
Aatd 25 54 26
Emphysema Due to Aat Deficiency 58 13
A1at Deficiency 25 54
A1atd 58 76
Hemorrhagic Diathesis Due to Antithrombin Pittsburgh 58
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 74
Emphysema-Cirrhosis, Due to Aat Deficiency 58
Alpha-1 Protease Inhibitor Deficiency 26
Emphysema, Hereditary Pulmonary 74
Alpha 1 Antitrypsin Deficiency 54
Hereditary Pulmonary Emphysema 26
Alpha-1 Related Emphysema 26
Inherited Emphysema 26
Alpha-1-Antitrypsin 13
Genetic Emphysema 26
Aat 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
alpha-1-antitrypsin deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13372
OMIM 58 613490
KEGG 38 H01103
ICD9CM 36 273.4
MeSH 45 D019896
NCIt 51 C84397
SNOMED-CT 69 30188007
ICD10 34 E88.01 J43 J43.9
MESH via Orphanet 46 C531610 D019896
ICD10 via Orphanet 35 E88.0
UMLS via Orphanet 75 C0221757 C3501835
Orphanet 60 ORPHA60
MedGen 43 C0221757

Summaries for Alpha-1-Antitrypsin Deficiency

NIH Rare Diseases : 54 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 pulmonary emphysema and nodular nonsuppurative panniculitis, 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 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.

Genetics Home Reference : 26 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 : 58 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 : 44 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 : 76 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 : 64 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 : 77 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 320)
# Related Disease Score Top Affiliating Genes
1 pulmonary emphysema 30.6 ELANE ELN SERPINA1
2 nodular nonsuppurative panniculitis 30.5 ELANE SERPINA1
3 mycobacterium abscessus 30.5 CXCL8 SERPINA1
4 pneumothorax 30.4 ELN SERPINA1
5 lung disease 30.4 CXCL8 ELANE ELN SERPINA1
6 status asthmaticus 30.3 CXCL8 ELANE
7 heart disease 30.2 ALB CXCL8 ELN SERPINC1
8 protein-losing enteropathy 30.1 ALB SERPINA1
9 cerebral aneurysms 30.1 ELANE ELN
10 pulmonary disease, chronic obstructive 30.1 CXCL8 ELANE ELN SERPINA1 SERPINA3
11 liver disease 30.0 ALB GPT HFE SERPINA1 SERPINA3
12 malignant fibroxanthoma 30.0 SERPINA1 SERPINA3
13 bronchiectasis 29.9 CXCL8 ELANE SERPINA1 SERPINA3
14 endodermal sinus tumor 29.9 ALB SERPINA1
15 bronchitis 29.8 ALB CXCL8 ELANE SERPINA1
16 hemosiderosis 29.7 GPT HFE
17 infantile liver failure syndrome 1 29.6 ALB GPT
18 common cold 29.6 ALB CXCL8
19 endocarditis 29.6 ALB CXCL8 SERPINC1
20 wilson disease 29.4 ALB GPT HFE
21 hepatic tuberculosis 29.4 ALB GPT SERPINA1
22 obstructive jaundice 29.4 ALB CXCL8 GPT
23 hepatitis a 29.3 ALB GPT SERPINA1
24 viral hepatitis 29.2 ALB GPT HFE SERPINA1
25 alcoholic hepatitis 29.1 ALB CXCL8 GPT
26 hemorrhagic fever 29.0 ALB GPT SERPINC1
27 liver cirrhosis 28.8 ALB GPT HFE SERPINA1 SERPINC1
28 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 12.2
29 pneumothorax, primary spontaneous 11.2
30 bile acid synthesis defect, congenital, 2 11.2
31 bile acid synthesis defect, congenital, 1 11.2
32 acquired amegakaryocytic thrombocytopenia 11.1
33 ischemic heart disease 10.4
34 acinar cell cystadenocarcinoma 10.4 SERPINA1 SERPINA3
35 inflammatory mfh 10.4 SERPINA1 SERPINA3
36 cutaneous solitary mastocytoma 10.4 SERPINA1 SERPINA3
37 mid-dermal elastolysis 10.4 ELANE ELN
38 panniculitis 10.4
39 elephantiasis 10.3 ELANE ELN
40 erysipelas 10.3 ELANE ELN
41 reticulohistiocytic granuloma 10.3 SERPINA1 SERPINA3
42 cardiac rupture 10.3 CXCL8 ELANE
43 hepatocellular carcinoma 10.3
44 fibrosarcoma of bone 10.3 SERPINA1 SERPINA3
45 periodontosis 10.3 CXCL8 ELANE
46 viral meningitis 10.3 CXCL8 SERPINA1
47 lung cancer 10.3
48 granulomatosis with polyangiitis 10.3
49 siderosis 10.3 HFE SERPINA1
50 cyclic neutropenia 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

Human phenotypes related to Alpha-1-Antitrypsin Deficiency:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
2 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001399
3 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
4 hepatitis 60 33 frequent (33%) Frequent (79-30%) HP:0012115
5 jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0000952
6 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
7 cirrhosis 33 occasional (7.5%) HP:0001394
8 dyspnea 33 HP:0002094
9 chronic obstructive pulmonary disease 33 HP:0006510
10 hepatocellular carcinoma 33 HP:0001402
11 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# 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: 64

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 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 56-45-1 5951
2 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
3
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
4 Protein C Inhibitor Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
5 Trypsin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
6 Alpha 1-Antitrypsin Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
7 Serine Proteinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
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,Early Phase 1
10
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3,Phase 1 2921-57-5
12
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3,Phase 1 302-25-0
13
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
14
Mycophenolic acid Approved Phase 3 24280-93-1 446541
15
Prednisolone hemisuccinate Experimental Phase 2, Phase 3,Phase 1 2920-86-7
16 glucocorticoids Phase 2, Phase 3,Phase 1
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
18 Protective Agents Phase 2, Phase 3,Phase 1
19 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
20 Neuroprotective Agents Phase 2, Phase 3,Phase 1
21 Antiemetics Phase 2, Phase 3,Phase 1
22 Methylprednisolone Acetate Phase 2, Phase 3,Phase 1
23 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
24 Hormone Antagonists Phase 2, Phase 3,Phase 1
25 Hormones Phase 2, Phase 3,Phase 1
26 Autonomic Agents Phase 2, Phase 3,Phase 1
27 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
28 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
29 Prednisolone acetate Phase 2, Phase 3,Phase 1
30 Antibiotics, Antitubercular Phase 3
31 Antitubercular Agents Phase 3
32 Anti-Infective Agents Phase 3
33 Anti-Bacterial 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 4-phenylbutyric acid Phase 2
39 Liver Extracts Phase 2,Phase 1
40 Antimanic Agents Phase 2
41 Central Nervous System Depressants Phase 2,Phase 1
42 Psychotropic Drugs Phase 2
43 Sodium Channel Blockers Phase 2
44 Diuretics, Potassium Sparing Phase 2
45 Anticonvulsants Phase 2
46 Tranquilizing Agents Phase 2
47 Analgesics, Non-Narcotic Phase 2
48 Analgesics Phase 2
49 Cytochrome P-450 CYP3A Inducers Phase 2
50 Viscosupplements Phase 2

Interventional clinical trials:

(show top 50) (show all 98)
# 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 The Safety and Efficacy of Alpha-1 Antitrypsin (AAT) for the Prevention of Graft‑Versus-host Disease (GVHD) in Patients Receiving Hematopoietic Cell Transplant Recruiting NCT03805789 Phase 2, Phase 3
16 Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency Enrolling by invitation NCT02796937 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 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 Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency Completed NCT01054339 Phase 2 rAAV1-CB-hAAT
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 74 / NDF-RT 52 :


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 30 SERPINA1

Anatomical Context for Alpha-1-Antitrypsin Deficiency

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

42
Liver, Lung, Testes, Skin, Heart, Neutrophil, Skeletal Muscle
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 1248)
# Title Authors Year
1
An unusual case of alpha-1-antitrypsin deficiency: SZ/Z. ( 30579752 )
2019
2
Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary? ( 30630519 )
2019
3
Liver disease in adults with severe alpha-1-antitrypsin deficiency. ( 30680526 )
2019
4
Alpha-1 antitrypsin deficiency liver disease, mutational homogeneity modulated by epigenetic heterogeneity with links to obesity. ( 30681738 )
2019
5
Emphysema: looking beyond alpha-1 antitrypsin deficiency. ( 30761929 )
2019
6
The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. ( 30765486 )
2019
7
Prevalence of alpha-1-antitrypsin deficiency carriers in a population with and without colonic diverticula. A multicentre prospective case-control study: the ALADDIN study. ( 30767045 )
2019
8
Progress in Alpha-1 Antitrypsin Deficiency: Collaboration as the Foundation of New Knowledge. ( 30775419 )
2019
9
Regional lung densities in alpha-1 antitrypsin deficiency compared to predicted values. ( 30819163 )
2019
10
Clinical impact of alpha-1-antitrypsin deficiency in ANCA-associated vasculitis: results from a French retrospective monocentric cohort of 142 consecutive patients. ( 30824651 )
2019
11
Limited GPA and Alpha-1 Antitrypsin Deficiency in a Pediatric Patient. ( 30824654 )
2019
12
An NP's guide to diagnosing and treating alpha-1 antitrypsin deficiency. ( 30829939 )
2019
13
A Stress Buffering Perspective on the Progression of Alpha-1 Antitrypsin Deficiency. ( 30843437 )
2019
14
Liver damage in a patient with Gaucher's disease type 1 and alpha-1 antitrypsin deficiency: a potential epigenetic effect? ( 30851181 )
2019
15
Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy. ( 30871819 )
2019
16
Survival in the Swedish cohort with alpha-1-antitrypsin deficiency, up to the age of 43-45 years. ( 30880942 )
2019
17
An NP's guide to diagnosing and treating alpha-1 antitrypsin deficiency. ( 30889106 )
2019
18
The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: The Association Between Diagnostic Delay and Worsened Clinical Status. ( 30914495 )
2019
19
Are There Differences Between the Available Treatments for Emphysema Associated with Alpha-1 Antitrypsin Deficiency? ( 29625713 )
2018
20
Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery. ( 29469675 )
2018
21
Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT). ( 29615836 )
2018
22
Presentation and prognosis of liver disease in alpha-1 antitrypsin deficiency. ( 29768056 )
2018
23
Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population. ( 29393705 )
2018
24
Letter: unlikely liver bedfellows-alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis. ( 29939411 )
2018
25
Letter: unlikely liver bedfellows-alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis. Author's reply. ( 29939419 )
2018
26
Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency. ( 29769092 )
2018
27
Was Ugo Foscolo (1778-1827) affected by alpha-1 antitrypsin deficiency? ( 29406986 )
2018
28
Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications. ( 29430176 )
2018
29
Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases. ( 29707779 )
2018
30
Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice. ( 29641323 )
2018
31
Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. ( 29446109 )
2018
32
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
33
Clinical Experience with SERPINA1 DNA Sequencing to Detect Alpha-1 Antitrypsin Deficiency. ( 29182883 )
2018
34
Case finding of Alpha-1 antitrypsin deficiency: never wasted time! ( 29387387 )
2018
35
Alpha-1 antitrypsin deficiency: From the lung to the heart? ( 29432934 )
2018
36
Hidden burden of osteoporosis in alpha-1 antitrypsin deficiency. ( 29950358 )
2018
37
Pelvic Organ Prolapse in a Fighter Pilot with Alpha-1 Antitrypsin Deficiency. ( 29233247 )
2018
38
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency. ( 29882371 )
2018
39
Augmentation therapy for emphysema due to alpha-1 antitrypsin deficiency: Pro. ( 29555450 )
2018
40
Pulmonary MRI morphometry modeling of airspace enlargement in chronic obstructive pulmonary disease and alpha-1 antitrypsin deficiency. ( 28198571 )
2018
41
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
42
Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis. ( 29991100 )
2018
43
Alpha-1 antitrypsin deficiency: outstanding questions and future directions. ( 29996870 )
2018
44
SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency. ( 30009048 )
2018
45
Health status decline in α-1 antitrypsin deficiency: a feasible outcome for disease modifying therapies? ( 30029692 )
2018
46
Cutaneous Manifestation of Alpha-1 Antitrypsin Deficiency: A Case of Panniculitis. ( 30078886 )
2018
47
Alpha-1 Antitrypsin Deficiency as a Candidate for Gene Editing. ( 30096037 )
2018
48
Hyperpolarized 3 He MRI Ventilatory Apparent Diffusion Coefficient of Alpha-1 Antitrypsin Deficiency. ( 30102430 )
2018
49
Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. ( 30103740 )
2018
50
Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort. ( 30138687 )
2018

Variations for Alpha-1-Antitrypsin Deficiency

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

6 (show top 50) (show all 290)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA1 NM_000295.4(SERPINA1): c.840T> C (p.Asp280=) single nucleotide variant Benign/Likely benign rs1049800 GRCh37 Chromosome 14, 94847285: 94847285
2 SERPINA1 NM_000295.4(SERPINA1): c.840T> C (p.Asp280=) single nucleotide variant Benign/Likely benign rs1049800 GRCh38 Chromosome 14, 94380948: 94380948
3 SERPINA1 NM_000295.4(SERPINA1): c.424C> T (p.Leu142=) single nucleotide variant Benign/Likely benign rs20546 GRCh38 Chromosome 14, 94382814: 94382814
4 SERPINA1 NM_000295.4(SERPINA1): c.424C> T (p.Leu142=) single nucleotide variant Benign/Likely benign rs20546 GRCh37 Chromosome 14, 94849151: 94849151
5 SERPINA1 NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs) duplication Pathogenic/Likely pathogenic rs764325655 GRCh37 Chromosome 14, 94844885: 94844885
6 SERPINA1 NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs) duplication Pathogenic/Likely pathogenic rs764325655 GRCh38 Chromosome 14, 94378548: 94378548
7 SERPINA1 NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg) single nucleotide variant Likely pathogenic rs764220898 GRCh38 Chromosome 14, 94381043: 94381043
8 SERPINA1 NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg) single nucleotide variant Likely pathogenic rs764220898 GRCh37 Chromosome 14, 94847380: 94847380
9 SERPINA1 NM_000295.4(SERPINA1): c.646+1G> T single nucleotide variant Likely pathogenic rs751235320 GRCh37 Chromosome 14, 94848928: 94848928
10 SERPINA1 NM_000295.4(SERPINA1): c.646+1G> T single nucleotide variant Likely pathogenic rs751235320 GRCh38 Chromosome 14, 94382591: 94382591
11 SERPINA1 NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs199422210 GRCh37 Chromosome 14, 94849023: 94849023
12 SERPINA1 NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs199422210 GRCh38 Chromosome 14, 94382686: 94382686
13 SERPINA1 QOgranite falls allele undetermined variant Pathogenic
14 SERPINA1 NM_001127701.1(SERPINA1): c.1208C> T (p.Thr403Ile) single nucleotide variant Likely benign rs778747339 GRCh37 Chromosome 14, 94844835: 94844835
15 SERPINA1 NM_001127701.1(SERPINA1): c.1208C> T (p.Thr403Ile) single nucleotide variant Likely benign rs778747339 GRCh38 Chromosome 14, 94378498: 94378498
16 SERPINA1 NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61761869 GRCh38 Chromosome 14, 94378529: 94378529
17 SERPINA1 NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61761869 GRCh37 Chromosome 14, 94844866: 94844866
18 SERPINA1 NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) indel Pathogenic rs864622043 GRCh37 Chromosome 14, 94844928: 94844935
19 SERPINA1 NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) indel Pathogenic rs864622043 GRCh38 Chromosome 14, 94378591: 94378598
20 SERPINA1 NM_001127701.1(SERPINA1): c.1094A> T (p.Asp365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs864622046 GRCh38 Chromosome 14, 94378612: 94378612
21 SERPINA1 NM_001127701.1(SERPINA1): c.1094A> T (p.Asp365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs864622046 GRCh37 Chromosome 14, 94844949: 94844949
22 SERPINA1 NM_001127701.1(SERPINA1): c.1093G> T (p.Asp365Tyr) single nucleotide variant Likely benign rs143370956 GRCh38 Chromosome 14, 94378613: 94378613
23 SERPINA1 NM_001127701.1(SERPINA1): c.1093G> T (p.Asp365Tyr) single nucleotide variant Likely benign rs143370956 GRCh37 Chromosome 14, 94844950: 94844950
24 SERPINA1 NM_001127701.1(SERPINA1): c.1064A> G (p.Lys355Arg) single nucleotide variant Likely benign rs864622055 GRCh37 Chromosome 14, 94845802: 94845802
25 SERPINA1 NM_001127701.1(SERPINA1): c.1064A> G (p.Lys355Arg) single nucleotide variant Likely benign rs864622055 GRCh38 Chromosome 14, 94379465: 94379465
26 SERPINA1 NM_001127701.1(SERPINA1): c.879C> G (p.His293Gln) single nucleotide variant Likely benign rs141095970 GRCh37 Chromosome 14, 94847246: 94847246
27 SERPINA1 NM_001127701.1(SERPINA1): c.879C> G (p.His293Gln) single nucleotide variant Likely benign rs141095970 GRCh38 Chromosome 14, 94380909: 94380909
28 SERPINA1 NM_000295.4(SERPINA1): c.848A> T (p.Lys283Ile) single nucleotide variant Uncertain significance rs864622044 GRCh37 Chromosome 14, 94847277: 94847277
29 SERPINA1 NM_000295.4(SERPINA1): c.848A> T (p.Lys283Ile) single nucleotide variant Uncertain significance rs864622044 GRCh38 Chromosome 14, 94380940: 94380940
30 SERPINA1 NM_001127701.1(SERPINA1): c.737A> C (p.Lys246Thr) single nucleotide variant Likely benign rs864622054 GRCh37 Chromosome 14, 94847388: 94847388
31 SERPINA1 NM_001127701.1(SERPINA1): c.737A> C (p.Lys246Thr) single nucleotide variant Likely benign rs864622054 GRCh38 Chromosome 14, 94381051: 94381051
32 SERPINA1 NM_001127701.1(SERPINA1): c.735G> A (p.Met245Ile) single nucleotide variant Likely benign rs864622053 GRCh37 Chromosome 14, 94847390: 94847390
33 SERPINA1 NM_001127701.1(SERPINA1): c.735G> A (p.Met245Ile) single nucleotide variant Likely benign rs864622053 GRCh38 Chromosome 14, 94381053: 94381053
34 SERPINA1 NM_001127701.1(SERPINA1): c.707A> G (p.Gln236Arg) single nucleotide variant Likely benign rs746531546 GRCh37 Chromosome 14, 94847418: 94847418
35 SERPINA1 NM_001127701.1(SERPINA1): c.707A> G (p.Gln236Arg) single nucleotide variant Likely benign rs746531546 GRCh38 Chromosome 14, 94381081: 94381081
36 SERPINA1 NM_001127701.1(SERPINA1): c.631T> C (p.Tyr211His) single nucleotide variant Likely benign rs864622052 GRCh38 Chromosome 14, 94382607: 94382607
37 SERPINA1 NM_001127701.1(SERPINA1): c.631T> C (p.Tyr211His) single nucleotide variant Likely benign rs864622052 GRCh37 Chromosome 14, 94848944: 94848944
38 SERPINA1 NM_000295.4(SERPINA1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622051 GRCh37 Chromosome 14, 94849037: 94849037
39 SERPINA1 NM_000295.4(SERPINA1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622051 GRCh38 Chromosome 14, 94382700: 94382700
40 SERPINA1 NM_001127701.1(SERPINA1): c.236T> A (p.Val79Glu) single nucleotide variant Uncertain significance rs864622047 GRCh38 Chromosome 14, 94383002: 94383002
41 SERPINA1 NM_001127701.1(SERPINA1): c.236T> A (p.Val79Glu) single nucleotide variant Uncertain significance rs864622047 GRCh37 Chromosome 14, 94849339: 94849339
42 SERPINA1 NM_001127701.1(SERPINA1): c.199C> A (p.His67Asn) single nucleotide variant Likely benign rs864622050 GRCh38 Chromosome 14, 94383039: 94383039
43 SERPINA1 NM_001127701.1(SERPINA1): c.199C> A (p.His67Asn) single nucleotide variant Likely benign rs864622050 GRCh37 Chromosome 14, 94849376: 94849376
44 SERPINA1 NM_001127701.1(SERPINA1): c.188G> T (p.Arg63Leu) single nucleotide variant Likely benign rs764726147 GRCh37 Chromosome 14, 94849387: 94849387
45 SERPINA1 NM_001127701.1(SERPINA1): c.188G> T (p.Arg63Leu) single nucleotide variant Likely benign rs764726147 GRCh38 Chromosome 14, 94383050: 94383050
46 SERPINA1 NM_001127701.1(SERPINA1): c.180C> G (p.Ser60Arg) single nucleotide variant Likely benign rs864622045 GRCh38 Chromosome 14, 94383058: 94383058
47 SERPINA1 NM_001127701.1(SERPINA1): c.180C> G (p.Ser60Arg) single nucleotide variant Likely benign rs864622045 GRCh37 Chromosome 14, 94849395: 94849395
48 SERPINA1 NM_001127701.1(SERPINA1): c.102G> T (p.Lys34Asn) single nucleotide variant Likely benign rs864622049 GRCh38 Chromosome 14, 94383136: 94383136
49 SERPINA1 NM_001127701.1(SERPINA1): c.102G> T (p.Lys34Asn) single nucleotide variant Likely benign rs864622049 GRCh37 Chromosome 14, 94849473: 94849473
50 SERPINA1 NM_001127701.1(SERPINA1): c.89A> T (p.Asp30Val) single nucleotide variant Likely benign rs864622048 GRCh38 Chromosome 14, 94383149: 94383149

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:

38
# 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 ELANE GPT SERPINA1 SERPINA3 SERPINC1
2 extracellular region GO:0005576 9.76 ALB CXCL8 ELANE ELN SERPINA1 SERPINA3
3 blood microparticle GO:0072562 9.54 ALB SERPINA3 SERPINC1
4 platelet alpha granule lumen GO:0031093 9.43 ALB SERPINA1 SERPINA3
5 collagen-containing extracellular matrix GO:0062023 9.35 ELANE ELN SERPINA1 SERPINA3 SERPINC1
6 extracellular space GO:0005615 9.28 ALB CXCL8 ELANE GPT HFE 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 9.54 ALB SERPINA1 SERPINC1
2 platelet degranulation GO:0002576 9.5 ALB SERPINA1 SERPINA3
3 regulation of cell adhesion GO:0030155 9.4 CXCL8 SERPINI1
4 acute-phase response GO:0006953 9.33 HFE SERPINA1 SERPINA3
5 acute inflammatory response to antigenic stimulus GO:0002438 9.26 ELANE SERPINC1
6 negative regulation of endopeptidase activity GO:0010951 9.26 SERPINA1 SERPINA3 SERPINC1 SERPINI1
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....