A1ATD
MCID: EMP007
MIFTS: 58

Emphysema Due to Aat Deficiency (A1ATD) malady

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

Aliases & Classifications for Emphysema Due to Aat Deficiency

Aliases & Descriptions for Emphysema Due to Aat Deficiency:

Name: Emphysema Due to Aat Deficiency 54 13 38
Alpha 1-Antitrypsin Deficiency 38 12 71 52 42 14 69
Alpha-1-Antitrypsin Deficiency 54 24 56 66
Alpha-1 Antitrypsin Deficiency 23 50 25 41
Aatd 23 50 24 25
Alpha 1 Antitrypsin Deficiency 50 24 29
A1at Deficiency 23 50 24
Aat Deficiency 12 23 50
Aat 71 25
Hemorrhagic Diathesis Due to \'antithrombin\' Pittsburgh 54
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 69
Emphysema-Cirrhosis, Due to Aat Deficiency 54
Deficiency in Alpa-1-Proteinase Inhibitor 56
Alpha-1 Protease Inhibitor Deficiency 25
Emphysema, Hereditary Pulmonary 69
Hereditary Pulmonary Emphysema 25
Alpha1-Antitrypsin Deficiency 24
Alpha-1 Related Emphysema 25
Inherited Emphysema 25
Alpha-1-Antitrypsin 13
Genetic Emphysema 25
A1atd 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
emphysema due to aat deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613490
Disease Ontology 12 DOID:13372
ICD10 33 E88.01 J43 J43.9
ICD9CM 35 273.4
MeSH 42 D019896
NCIt 47 C84397
SNOMED-CT 64 154771007 30188007
Orphanet 56 ORPHA60
ICD10 via Orphanet 34 E88.0
MESH via Orphanet 43 D019896 C531610
UMLS via Orphanet 70 C0221757
MedGen 40 C0221757
UMLS 69 C0221757

Summaries for Emphysema Due to Aat Deficiency

NIH Rare Diseases : 50 alpha-1 antitrypsin deficiency (aatd) is a disorder that causes 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 lungs from damage. having low levels of att (or no att) can allow the lungs to become damaged, making breathing hard. age of onset and severity of aatd can vary based on how much att an affected person is missing. in adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. some people have chronic obstructive pulmonary disease (copd) or asthma. liver disease (cirrhosis) may occur in affected children or adults. rarely, aatd can cause a skin condition called panniculitis. aatd is caused by mutations in the serpina1 gene and is inherited in a codominant manner. treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of aat; and/or lung transplantation in severe cases. last updated: 4/6/2016

MalaCards based summary : Emphysema Due to Aat Deficiency, also known as alpha 1-antitrypsin deficiency, is related to hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation and pneumothorax, primary spontaneous, and has symptoms including hepatomegaly, emphysema and hepatitis. An important gene associated with Emphysema Due to Aat Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are C-MYB transcription factor network and Lung fibrosis. The drugs Alpha 1-Antitrypsin and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and lung.

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 : 54 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...

MedlinePlus : 41 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 : 66 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.

Wikipedia : 71 Alpha-1 antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...

GeneReviews: NBK1519

Related Diseases for Emphysema Due to Aat Deficiency

Diseases related to Emphysema Due to Aat Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 11.8
2 pneumothorax, primary spontaneous 10.9
3 acquired amegakaryocytic thrombocytopenia 10.8
4 blood protein disease 10.2 SERPINA1 SERPINA3
5 lymph node cancer 10.2 A2M SERPINA1
6 endodermal sinus tumor 10.2 SERPINA1 SERPINA3
7 liver disease 10.2
8 kidney rhabdoid cancer 10.2 SERPINA1 SERPINA3
9 periosteal chondrosarcoma 10.2 A2M SERPINA1
10 neuromuscular disease 10.2 SERPINA1 SERPINA3
11 ivic syndrome 10.2 A2M SERPINA1
12 multifocal osteogenic sarcoma 10.1 SERPINA1 SERPINA3
13 arteriosclerosis 10.1 ELANE SERPINA1 SERPINA3
14 anthracosis 10.1 A2M SERPINA1
15 fasciitis 10.1 ELANE SERPINA1 SERPINA3
16 dancing eyes-dancing feet syndrome 10.1 ELANE ELN
17 pleural disease 10.1 ELANE SERPINA1
18 benign focal seizures of adolescence 10.1 ELANE ELN
19 focal epithelial hyperplasia 10.1 SERPINA1 SERPINA3
20 optic nerve glioma 10.1 ELANE ELN
21 tetanus 10.1 ELANE ELN
22 intestinal benign neoplasm 10.1 SERPINA1 SERPINA3
23 pulmonary embolism and infarction 10.0 ELANE PRTN3
24 panniculitis 10.0
25 subacute glomerulonephritis 10.0 ELANE PRTN3
26 retinitis pigmentosa 51 10.0 ELANE ELN SERPINA1
27 renal oncocytoma 10.0 ELANE ELN SERPINA1
28 hirschsprung disease 7 10.0 ELANE PRTN3
29 ischemic heart disease 10.0
30 heart disease 10.0
31 hepatitis 10.0
32 hepatocellular carcinoma 10.0
33 eating disorder 9.9 ELANE PRTN3 SERPINA1
34 aortic disease 9.9
35 alcoholic hepatitis 9.9 ELANE ELN
36 pulmonary emphysema 9.8
37 congenital cytomegalovirus 9.8
38 nephrotic syndrome 9.8
39 adenocarcinoma 9.8
40 thalassemia 9.8
41 cervicitis 9.8
42 lung disease 9.8
43 asthma 9.8
44 major depressive disorder and accelerated response to antidepressant drug treatment 9.7 ELANE ELN PRTN3 SERPINA1
45 subcorneal pustular dermatosis 9.7 ELANE ELN PRTN3 SERPINA1
46 hyperlysinemia 9.7 ELANE ELN PRTN3 SERPINA1
47 galactosemia 9.6
48 hepatitis c 9.6
49 fibromuscular dysplasia 9.6
50 hemochromatosis 9.6

Graphical network of the top 20 diseases related to Emphysema Due to Aat Deficiency:



Diseases related to Emphysema Due to Aat Deficiency

Symptoms & Phenotypes for Emphysema Due to Aat Deficiency

Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

Human phenotypes related to Emphysema Due to Aat Deficiency:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
2 emphysema 56 32 Very frequent (99-80%) HP:0002097
3 hepatitis 56 32 Frequent (79-30%) HP:0012115
4 jaundice 56 32 Frequent (79-30%) HP:0000952
5 nephrotic syndrome 56 32 Occasional (29-5%) HP:0000100
6 hepatic failure 56 32 Very frequent (99-80%) HP:0001399
7 dyspnea 32 HP:0002094
8 elevated hepatic transaminases 32 HP:0002910
9 cirrhosis 32 HP:0001394
10 chronic obstructive pulmonary disease 32 HP:0006510
11 hepatocellular carcinoma 32 HP:0001402
12 chronic bronchitis 32 HP:0004469

UMLS symptoms related to Emphysema Due to Aat Deficiency:


coughing, hemoptysis, snoring

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

Drugs for Emphysema Due to Aat Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Alpha 1-Antitrypsin Phase 4,Phase 2,Phase 3,Phase 1
2 HIV Protease Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
3
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1
4 Protein C Inhibitor Phase 4,Phase 2,Phase 3,Phase 1
5 Serine Proteinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
6 Trypsin Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
7 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1
8 serine Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
9
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
11
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 3 24280-93-1 446541
13 Protein C Phase 2, Phase 3, Phase 1
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 Immunosuppressive Agents Phase 3
34 Omega 3 Fatty Acid Nutraceutical Phase 3
35
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
36
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
37
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741 24759
38
Butyric Acid Experimental Phase 2 107-92-6 264
39 4-phenylbutyric acid Phase 2
40 Liver Extracts Phase 2,Phase 1
41 Analgesics Phase 2,Phase 1
42 Analgesics, Non-Narcotic Phase 2,Phase 1
43 Anticonvulsants Phase 2,Phase 1
44 Antimanic Agents Phase 2
45 Central Nervous System Depressants Phase 2,Phase 1
46 Cytochrome P-450 CYP3A Inducers Phase 2
47 Psychotropic Drugs Phase 2,Phase 1
48 Tranquilizing Agents Phase 2,Phase 1
49 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
50 Antipyretics Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 90)
id Name Status NCT ID Phase
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
7 Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency Unknown status NCT01357460 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
9 A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency Completed NCT02282527 Phase 2, Phase 3
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
11 The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency Completed NCT00301366 Phase 3
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
14 Omega 3 Supplementation in Cystic Fibrosis Patients Completed NCT00959010 Phase 3
15 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
16 Ph 3/4 GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage Study Recruiting NCT02525861 Phase 3
17 A Phase 2/3 Study of GLASSIA for the Treatment of Acute GvHD Recruiting NCT02956122 Phase 2, Phase 3
18 Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency Enrolling by invitation NCT02796937 Phase 3
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
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
23 Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin Deficiency Completed NCT00161707 Phase 1, Phase 2
24 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
25 Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation. Completed NCT01669421 Phase 2
26 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2
27 Phase II, Safety and ELF Study of "Kamada-API for Inhalation" Completed NCT02001688 Phase 2
28 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? Completed NCT00067756 Phase 2
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
31 Alpha 1 Anti-Trypsin in Treating Patients With Acute Graft-Versus-Host Disease Completed NCT01523821 Phase 1, Phase 2
32 Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency Recruiting NCT01379469 Phase 2
33 Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Recruiting NCT03008915 Phase 2
34 Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency Recruiting NCT02870309 Phase 1, Phase 2
35 Efficacy/Safety of HA Inhalation Solution for Hereditary Emphysema in Patients With Alpha-1 Antitrypsin Deficiency Recruiting NCT03114020 Phase 2
36 A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease Active, not recruiting NCT02503683 Phase 1, Phase 2
37 Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus Active, not recruiting NCT02093221 Phase 2
38 A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host Disease Active, not recruiting NCT01700036 Phase 2
39 Phase II Study to Evaluate the Efficacy and Safety of Glassia® in Type-1 Diabetes Active, not recruiting NCT02005848 Phase 2
40 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
41 Safety Study of Gene Transfer Vector to Treat Alpha1-antitrypsin (A1AT) Deficiency Not yet recruiting NCT02168686 Phase 1, Phase 2
42 Ex-vivo Perfusion and Ventilation of Lungs Recovered From Non-Heart-Beating Donors to Assess Transplant Suitability Suspended NCT01615484 Phase 2
43 Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels Withdrawn NCT02900183 Phase 2
44 A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part II Withdrawn NCT01183455 Phase 2
45 Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica Relapses Unknown status NCT02087813 Phase 1
46 Pharmacokinetic Study of ARALAST (Human Alpha1- PI) Completed NCT00242385 Phase 1
47 Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency Completed NCT00430768 Phase 1
48 Safety and Tolerability Study of Liquid Alpha1 Proteinase Inhibitor (API) in Subjects With Cystic Fibrosis Completed NCT01347190 Phase 1
49 Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (AATD) Active, not recruiting NCT01810458 Phase 1
50 A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD) Terminated NCT02363946 Phase 1

Search NIH Clinical Center for Emphysema Due to Aat Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: alpha 1-antitrypsin deficiency

Genetic Tests for Emphysema Due to Aat Deficiency

Genetic tests related to Emphysema Due to Aat Deficiency:

id Genetic test Affiliating Genes
1 Alpha-1-Antitrypsin Deficiency 29
2 Alpha1-Antitrypsin Deficiency 24 SERPINA1

Anatomical Context for Emphysema Due to Aat Deficiency

MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

39
Liver, Lung, Testes, Heart, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Emphysema Due to Aat Deficiency:
id Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Emphysema Due to Aat Deficiency

Variations for Emphysema Due to Aat Deficiency

ClinVar genetic disease variations for Emphysema Due to Aat Deficiency:

6 (show all 29)
id 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.272G> A (p.Gly91Glu) single nucleotide variant Pathogenic rs28931568 GRCh37 Chromosome 14, 94849303: 94849303
3 SERPINA1 NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys) single nucleotide variant Pathogenic rs28929474 GRCh37 Chromosome 14, 94844947: 94844947
4 SERPINA1 NM_001127701.1(SERPINA1): c.194T> C (p.Leu65Pro) single nucleotide variant Pathogenic rs28931569 GRCh37 Chromosome 14, 94849381: 94849381
5 SERPINA1 NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val) single nucleotide variant Likely pathogenic rs121912714 GRCh37 Chromosome 14, 94847286: 94847286
6 SERPINA1 NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs) deletion Pathogenic rs267606950 GRCh37 Chromosome 14, 94849023: 94849023
7 SERPINA1 NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter) single nucleotide variant Likely pathogenic rs199422211 GRCh37 Chromosome 14, 94847404: 94847404
8 SERPINA1 PI NULL(PROCIDA) deletion Pathogenic
9 SERPINA1 PI NULL(HONG KONG 1) deletion Pathogenic rs1057519610 GRCh38 Chromosome 14, 94379501: 94379502
10 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh37 Chromosome 14, 94844898: 94844898
11 SERPINA1 NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn) single nucleotide variant Pathogenic rs28931572 GRCh37 Chromosome 14, 94849228: 94849228
12 SERPINA1 NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe) single nucleotide variant Pathogenic rs55819880 GRCh37 Chromosome 14, 94849345: 94849345
13 SERPINA1 NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs) duplication Likely pathogenic rs764325655 GRCh37 Chromosome 14, 94844885: 94844885
14 SERPINA1 NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg) single nucleotide variant Likely pathogenic rs764220898 GRCh38 Chromosome 14, 94381043: 94381043
15 SERPINA1 NM_000295.4(SERPINA1): c.646+1G> T single nucleotide variant Likely pathogenic rs751235320 GRCh37 Chromosome 14, 94848928: 94848928
16 SERPINA1 NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs199422210 GRCh37 Chromosome 14, 94849023: 94849023
17 SERPINA1 QOgranite falls allele undetermined variant Pathogenic
18 SERPINA1 NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr) single nucleotide variant Pathogenic rs61761869 GRCh37 Chromosome 14, 94844866: 94844866
19 SERPINA1 NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs) indel Pathogenic rs864622043 GRCh37 Chromosome 14, 94844928: 94844935
20 SERPINA1 NM_000295.4(SERPINA1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622051 GRCh37 Chromosome 14, 94849037: 94849037
21 SERPINA1 NM_000295.4(SERPINA1): c.1177C> T (p.Pro393Ser) single nucleotide variant Pathogenic rs61761869 GRCh37 Chromosome 14, 94844866: 94844866
22 SERPINA1 NM_001127701.1(SERPINA1): c.227_229delTCT (p.Phe76del) deletion Pathogenic rs863225263 GRCh37 Chromosome 14, 94849346: 94849348
23 SERPINA1 NM_000295.4(SERPINA1): c.288_291delTCAC (p.His97Metfs) deletion Pathogenic rs1057516212 GRCh37 Chromosome 14, 94849284: 94849287
24 SERPINA1 NM_000295.4(SERPINA1): c.1018delG (p.Ala340Leufs) deletion Likely pathogenic rs1057516929 GRCh37 Chromosome 14, 94845848: 94845848
25 SERPINA1 NM_000295.4(SERPINA1): c.714delC (p.Thr239Profs) deletion Likely pathogenic rs1057516448 GRCh38 Chromosome 14, 94381074: 94381074
26 SERPINA1 NM_000295.4(SERPINA1): c.646+2T> C single nucleotide variant Likely pathogenic rs112661131 GRCh37 Chromosome 14, 94848927: 94848927
27 SERPINA1 NM_000295.4(SERPINA1): c.186C> A (p.Tyr62Ter) single nucleotide variant Likely pathogenic rs762321137 GRCh38 Chromosome 14, 94383052: 94383052
28 SERPINA1 NM_000295.4(SERPINA1): c.21G> A (p.Trp7Ter) single nucleotide variant Likely pathogenic rs370038282 GRCh38 Chromosome 14, 94383217: 94383217
29 SERPINA1 NM_000295.4(SERPINA1): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516555 GRCh37 Chromosome 14, 94849574: 94849574

Expression for Emphysema Due to Aat Deficiency

LifeMap Discovery
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 35
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ORM1 orosomucoid 1 Lung - 4.19 0.014
2 FOSB FBJ murine osteosarcoma viral oncogene homolog B Lung + 3.19 0.008
Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.

Pathways for Emphysema Due to Aat Deficiency

Pathways related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.05 ELANE PRTN3
2 10.76 ELN SERPINA1
3 10.21 ELANE ELN

GO Terms for Emphysema Due to Aat Deficiency

Cellular components related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 A2M ELANE PRTN3 SERPINA1 SERPINA3 SERPINI1
2 extracellular region GO:0005576 9.8 A2M ELANE ELN PRTN3 SERPINA1 SERPINA3
3 azurophil granule lumen GO:0035578 9.33 ELANE PRTN3 SERPINA3
4 extracellular space GO:0005615 9.17 A2M ELANE PRTN3 SERPINA1 SERPINA2 SERPINA3
5 platelet alpha granule lumen GO:0031093 9.13 A2M SERPINA1 SERPINA3

Biological processes related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.62 ELANE PRTN3 SERPINA1 SERPINA3
2 platelet degranulation GO:0002576 9.43 A2M SERPINA1 SERPINA3
3 antimicrobial humoral response GO:0019730 9.4 ELANE PRTN3
4 acute-phase response GO:0006953 9.37 SERPINA1 SERPINA3
5 extracellular matrix disassembly GO:0022617 9.33 A2M ELANE ELN
6 negative regulation of peptidase activity GO:0010466 9.26 A2M SERPINA1 SERPINA3 SERPINI1
7 negative regulation of endopeptidase activity GO:0010951 9.02 A2M SERPINA1 SERPINA2 SERPINA3 SERPINI1

Molecular functions related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.33 A2M ELANE SERPINA1
2 peptidase inhibitor activity GO:0030414 9.26 A2M SERPINA1 SERPINA3 SERPINI1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.02 A2M SERPINA1 SERPINA2 SERPINA3 SERPINI1

Sources for Emphysema Due to Aat Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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