MCID: EMP007
MIFTS: 56

Emphysema Due to Aat Deficiency malady

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

Aliases & Classifications for Emphysema Due to Aat Deficiency

About this section

Aliases & Descriptions for Emphysema Due to Aat Deficiency:

Name: Emphysema Due to Aat Deficiency 52 12 35
Alpha 1-Antitrypsin Deficiency 35 11 71 50 39 13 68
Alpha-1-Antitrypsin Deficiency 52 24 54 70
Alpha-1 Antitrypsin Deficiency 23 48 25 38
Aatd 23 48 24 25
Alpha 1 Antitrypsin Deficiency 48 24 27
A1at Deficiency 23 48 24
Aat Deficiency 11 23 48
Aat 71 25
Hemorrhagic Diathesis Due to \'antithrombin\' Pittsburgh 52
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 68
 
Emphysema-Cirrhosis, Due to Aat Deficiency 52
Deficiency in Alpa-1-Proteinase Inhibitor 54
Alpha-1 Protease Inhibitor Deficiency 25
Emphysema, Hereditary Pulmonary 68
Hereditary Pulmonary Emphysema 25
Alpha1-Antitrypsin Deficiency 24
Alpha-1 Related Emphysema 25
Alpha-1-Antitrypsin 12
Inherited Emphysema 25
Genetic Emphysema 25
A1atd 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
emphysema due to aat deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613490
Disease Ontology11 DOID:13372
ICD1030 E88.01, J43, J43.9
ICD9CM32 273.4
MeSH39 D019896
NCIt45 C84397
SNOMED-CT62 154771007, 30188007
Orphanet54 ORPHA60
ICD10 via Orphanet31 E88.0
MESH via Orphanet40 D019896, C531610
UMLS via Orphanet69 C0221757
MedGen37 C0221757

Summaries for Emphysema Due to Aat Deficiency

About this section
NIH Rare Diseases:48 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 hepatic failure, emphysema and hepatomegaly. An important gene associated with Emphysema Due to Aat Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways are Matrix Metalloproteinases and Cell adhesion_Cell-matrix glycoconjugates. The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include liver, lung and testes.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 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.

MedlinePlus:38 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

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

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

GeneReviews for NBK1519

Related Diseases for Emphysema Due to Aat Deficiency

About this section

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation11.8
2pneumothorax, primary spontaneous10.9
3acquired amegakaryocytic thrombocytopenia10.8
4conjunctivitis10.4SERPINA1, SERPINA3
5laubry-pezzi syndrome10.4SERPINA1, SERPINA3
6pericoronitis10.3SERPINA1, SERPINA3
7vaginal yolk sac tumor10.3SERPINA1, SERPINA3
8pediatric meningioma10.3SERPINA1, SERPINA3
9acute cervicitis10.3A2M, SERPINA1
10penile disease10.3ELANE, SERPINA1
11deletion 5q3510.2ELANE, ELN
12acquired pseudoxanthoma elasticum10.2ELANE, ELN
13nonparalytic poliomyelitis10.2ELANE, ELN
14central nervous system adult germ cell tumor10.2SERPINA1, SERPINA3
15lemierre's syndrome10.2ELANE, ELN
16liver disease10.2
17posterolateral myocardial infarction10.2A2M, SERPINA1
18ivic syndrome10.2A2M, SERPINA1
19localized osteosarcoma10.2SERPINA1, SERPINA3
20caplan's syndrome10.1A2M, SERPINA1
21laryngeal tuberculosis10.1ELANE, SERPINA1
22generalized atherosclerosis10.1ELANE, SERPINA1, SERPINA3
23lymphopenia10.0ELANE, SERPINA1
24panniculitis10.0
25bardet-biedl syndrome 810.0ELANE, ELN, SERPINA1
26macroglobulinemia, waldenstrom 110.0ELANE, ELN, SERPINA1
27chronic closed-angle glaucoma10.0A2M, SERPINA1, SERPINA3
28ischemic heart disease10.0
29heart disease10.0
30alcohol abuse10.0ELANE, ELN
31hepatocellular carcinoma10.0
32hepatitis10.0
33aortic disease9.9
34pulmonary emphysema9.8
35congenital cytomegalovirus9.8
36asthma9.8
37cervicitis9.8
38lung disease9.8
39adenocarcinoma9.7
40pulmonary sarcoidosis9.7ELANE, ELN, SERPINA1, SERPINA3
41colorectal cancer9.6
42cystic fibrosis9.6
43galactosemia9.6
44hemochromatosis9.6
45glomerulonephritis9.6
46liver cirrhosis9.6
47colitis9.6
48collagenous colitis9.6
49disseminated intravascular coagulation9.6
50dysgammaglobulinemia9.6

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

About this section

Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

Human phenotypes related to Emphysema Due to Aat Deficiency:

 64 54 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatic failure64 54 hallmark (90%) Very frequent (99-80%) HP:0001399
2 emphysema64 54 hallmark (90%) Very frequent (99-80%) HP:0002097
3 hepatomegaly64 54 typical (50%) Frequent (79-30%) HP:0002240
4 nephrotic syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0000100
5 cirrhosis64 rare (5%) HP:0001394
6 chronic bronchitis64 HP:0004469
7 chronic obstructive pulmonary disease64 HP:0006510
8 hepatocellular carcinoma64 HP:0001402
9 elevated hepatic transaminases64 HP:0002910
10 jaundice54 Frequent (79-30%)
11 hepatitis54 Frequent (79-30%)

UMLS symptoms related to Emphysema Due to Aat Deficiency:


coughing, hemoptysis, hepatomegaly, snoring

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

About this section

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

(show top 50)    (show all 116)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Methylprednisoloneapproved, vet_approvedPhase 4, Phase 2, Phase 3, Phase 1115383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
2
Prednisoloneapproved, vet_approvedPhase 4, Phase 2, Phase 3, Phase 1115350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
3
ProcaterolapprovedPhase 43372332-33-3688561
Synonyms:
(R*,S*)-(+-)-8-Hydroxy-5-(1-hydroxy-2-((1-methylethyl)amino)butyl)-2(1H)-quinolinone
5-[1-hydroxy-2-(propan-2-ylamino)butyl]quinoline-2,8-diol
60443-17-6
62929-91-3 (mono-hydrochloride)
72332-33-3
8-Hydroxy-5-(1-hydroxy-2-((1-methylethyl)amino)butyl)-2(1H)-quinolinone
8-hydroxy-5-[1-hydroxy-2-(propan-2-ylamino)butyl]-1H-quinolin-2-one
AC-13705
AC1L1J8G
AC1Q6I3X
AR-1J3938
BRD-A22684332-003-02-3
BSPBio_003239
CHEMBL160519
CI-888
CID4916
D08424
EINECS 276-590-0
KBio3_002739
L023776
 
LS-142797
Meptin
Meptin (TN)
MolPort-005-934-511
NSC 308904
NSC308904
OPC-2009
PROCATEROL
Pro-Air
Procaterol (INN)
Procaterol Monohydrochloride
Procaterol [INN:BAN]
Procaterolo
Procaterolo [DCIT]
Procaterolum
Procaterolum [INN-Latin]
Procaterolum [Latin]
SPBio_001400
STK632659
Spectrum2_001550
Spectrum3_001770
4Methylprednisolone HemisuccinatePhase 4, Phase 2, Phase 3, Phase 11153
5Methylprednisolone acetatePhase 4, Phase 2, Phase 3, Phase 11153
6Prednisolone hemisuccinatePhase 4, Phase 2, Phase 3, Phase 11153
7Alpha 1-AntitrypsinPhase 4, Phase 2, Phase 3, Phase 199
8Prednisolone phosphatePhase 4, Phase 2, Phase 3, Phase 11153
9Autonomic AgentsPhase 4, Phase 2, Phase 3, Phase 19774
10Prednisolone acetatePhase 4, Phase 2, Phase 3, Phase 11153
11Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 3, Phase 122776
12Serine Proteinase InhibitorsPhase 4, Phase 2, Phase 3, Phase 1850
13Protein C InhibitorPhase 4, Phase 2, Phase 3, Phase 197
14HIV Protease InhibitorsPhase 4, Phase 2, Phase 3, Phase 15319
15Trypsin InhibitorsPhase 4, Phase 2, Phase 3, Phase 1122
16
protease inhibitorsPhase 4, Phase 2, Phase 3, Phase 15320
Synonyms:
 
protease inhibitors
17Bronchodilator AgentsPhase 42856
18Respiratory System AgentsPhase 44818
19Anti-Asthmatic AgentsPhase 43369
20Neurotransmitter AgentsPhase 4, Phase 117734
21Pharmaceutical SolutionsPhase 4, Phase 2, Phase 17793
22AlbuterolPhase 4408
23Tocolytic AgentsPhase 4708
24Adrenergic AgonistsPhase 42877
25Adrenergic beta-AgonistsPhase 41640
26Adrenergic beta-2 Receptor AgonistsPhase 4925
27Adrenergic AgentsPhase 45140
28serineNutraceuticalPhase 4, Phase 2, Phase 3, Phase 1921
29
Mycophenolic acidapprovedPhase 393924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
30
Mycophenolate mofetilapproved, investigationalPhase 3939128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
31Antineoplastic Agents, HormonalPhase 2, Phase 3, Phase 15407
32glucocorticoidsPhase 2, Phase 3, Phase 14920
33Hormone AntagonistsPhase 2, Phase 3, Phase 112778
34Anti-Inflammatory AgentsPhase 2, Phase 3, Phase 110355
35Gastrointestinal AgentsPhase 2, Phase 3, Phase 18109
36Protein CPhase 2, Phase 3, Phase 1115
37HormonesPhase 2, Phase 3, Phase 113979
38Protective AgentsPhase 2, Phase 3, Phase 17190
39Neuroprotective AgentsPhase 2, Phase 3, Phase 11672
40Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 3, Phase 112767
41AntiemeticsPhase 2, Phase 3, Phase 13888
42Anti-Bacterial AgentsPhase 310884
43Immunosuppressive AgentsPhase 312770
44Antibiotics, AntitubercularPhase 36972
45Omega 3 Fatty AcidNutraceuticalPhase 3969
46
Carbamazepineapproved, investigationalPhase 2131298-46-42554
Synonyms:
2-azatricyclo[9.4.0.0^{3,8}]pentadeca-1(11),3(8),4,6,9,12,14-heptaene-2-carboxamide
298-46-4
5-Carbamoyl-5H-dibenz(b,f)azepine
5-Carbamoyl-5H-dibenz[b,F]azepine
5-Carbamoyl-5H-dibenz[b,f]azepine
5-Carbamoyl-5H-dibenzo(b,F)azepine
5-Carbamoyl-5H-dibenzo(b,f)azepine
5-Carbamoyldibenzo(b,f)azepine
5-Carbamyl-5H-dibenzo(b,F)azepine
5-Carbamyl-5H-dibenzo(b,f)azepine
5-Carbamyldibenzo(b,f)azepine
5H-Dibenz(b,F)azepine-5-carboxamide
5H-Dibenz(b,f)azepine-5-carboxamide
5H-Dibenz[b,f]azepine-5- carboxamide
5H-Dibenz[b,f]azepine-5-carboxamide
5H-Dibenzo[b,f]azepine-5-carboxamide
85756-57-6 (di-hydrate)
AC-10560
AC1L1DXT
AC1Q4ZSU
AC1Q4ZSV
AKOS003235644
Amizepin
Amizepine
Apo-Carbamazepine
Atretol
BIDD:GT0479
BIM-0050280.0001
BPBio1_000225
BRD-K71799949-001-06-7
BRN 1246090
BSPBio_000203
BSPBio_001929
Bio-0751
Bipotrol
Biston
C 4024
C06868
C4024_SIAL
C4024_SIGMA
C8981_SIAL
CARBAMAZEPINE, U.S.P.
CAS-298-46-4
CBChromo1_000350
CBZ
CDS1_002710
CHEBI:3387
CHEMBL108
CID2554
CPD001227191
Calepsin
Carbamazepan
Carbamazepen
Carbamazepin
Carbamazepina
Carbamazepina [INN-Spanish]
Carbamazepine (JP15/USP/INN)
Carbamazepine [USAN:INN:BAN:JAN]
Carbamazepinum
Carbamazepinum [INN-Latin]
Carbamazépine
Carbamezepine
Carbatrol
Carbatrol extended-release
Carbazepin
Carbazepine
Carbelan
ChemDiv1_018966
D00252
DB00564
DivK1c_000388
DivK1c_003750
EINECS 206-062-7
EU-0100292
Epitol
Epitol, Equetro, Tegretol, Biston, Calepsin, Carbamazepine
Equetro
Equetro (TN)
Finlepsin
G 32883
G-32883
Geigy 32883
HMS1568K05
 
HMS1920I17
HMS2090M07
HMS2091O19
HMS501D10
HMS640O02
HSDB 3019
I06-0863
IDI1_000388
KBio1_000388
KBio2_000516
KBio2_003084
KBio2_005652
KBio3_001149
KBioGR_000724
KBioSS_000516
Karbamazepin
LS-60362
Lexin
Lopac-C-4024
Lopac0_000292
MLS000069652
MLS001055475
MLS001074172
MolPort-000-710-574
NCGC00015234-01
NCGC00015234-02
NCGC00015234-03
NCGC00015234-07
NCGC00015234-13
NCGC00023877-03
NCGC00023877-04
NCGC00023877-05
NCGC00023877-06
NCGC00023877-07
NCGC00023877-08
NINDS_000388
NSC 169864
NSC169864
Neurotol
Neurotop retard
Novo-Carbamaz
Nu-Carbamazepine
Oprea1_790775
Prestwick0_000052
Prestwick1_000052
Prestwick2_000052
Prestwick3_000052
Prestwick_104
S1693_Selleck
SAM002264603
SMR000058201
SMR001227191
SPBio_000170
SPBio_002124
SPD-417
SPECTRUM1500159
STK177357
Sirtal
Spectrum2_000125
Spectrum3_000325
Spectrum4_000262
Spectrum5_000936
Spectrum_000096
Stazepin
Stazepine
Taro-Carbamazepine
Taro-Carbamazepine Cr
Tegretal
Tegretol
Tegretol (TN)
Tegretol Chewtabs
Tegretol Cr
Tegretol-Xr
Telesmin
Teril
Timonil
Trimonil
UNII-33CM23913M
WLN: T C676 BNJ BVZ
ZINC00004785
benzo[b][1]benzazepine-11-carboxamide
carbamazepine
carbamazepine (Tegretol)
nchem.859-comp7
47
Aspirinapproved, vet_approvedPhase 2111250-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
48
butyric acidexperimentalPhase 2363107-92-6264
Synonyms:
1-Butanoate
1-Butanoic acid
1-Butyrate
1-Butyric acid
1-Propanecarboxylate
1-Propanecarboxylic acid
Butanate
Butanic acid
Butanoate
Butanoic acid
Buttersaeure
Butyrate
 
Butyric acid
Ethylacetate
Ethylacetic acid
Honey robber
Kyselina maselna
N-Butanoate
N-Butanoic acid
N-Butyrate
N-Butyric acid
Propanecarboxylate
Propanecarboxylic acid
Propylformate
Propylformic acid
49Liver ExtractsPhase 2, Phase 13868
504-phenylbutyric acidPhase 248

Interventional clinical trials:

(show top 50)    (show all 87)
idNameStatusNCT IDPhase
1Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor)CompletedNCT00396006Phase 4
2Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency.CompletedNCT00670007Phase 4
3Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor DeficiencyCompletedNCT00261833Phase 4
4GLASSIA Infusion Rate StudyCompletedNCT01651351Phase 4
5Stage 1 Study of ARALAST NP and GLASSIA in A1PIRecruitingNCT02722304Phase 4
6Lung Disease and Its Affect on the Work of White Blood Cells in the LungsRecruitingNCT01851642Phase 4
7Aralast alpha1-proteinase Inhibitor Surveillance StudyTerminatedNCT00313144Phase 4
8Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin DeficiencyUnknown statusNCT01357460Phase 2, Phase 3
9Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient AdultsCompletedNCT00295061Phase 3
10Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin DeficiencyCompletedNCT00460096Phase 2, Phase 3
11The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) DeficiencyCompletedNCT00301366Phase 3
12A Study to Assess Safety and PK of Liquid Alpha1-Proteinase Inhibitor (Human) in Treating Alpha1-Antitrypsin DeficiencyCompletedNCT02282527Phase 2, Phase 3
13International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With EmphysemaCompletedNCT01217671Phase 2, Phase 3
14A Study of CellCept (Mycophenolate Mofetil) in Lung Transplant RecipientsCompletedNCT01014442Phase 3
15Omega 3 Supplementation in Cystic Fibrosis PatientsCompletedNCT00959010Phase 3
16Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)RecruitingNCT01983241Phase 3
17Ph 3/4 GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage StudyRecruitingNCT02525861Phase 3
18A Phase 2/3 Study of GLASSIA for the Treatment of Acute GvHDRecruitingNCT02956122Phase 2, Phase 3
19Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin DeficiencyEnrolling by invitationNCT02796937Phase 3
20Safety and Efficacy of (α1Proteinase Inhibitor, α1PI) in HIV DiseaseTerminatedNCT01731691Phase 2, Phase 3
21Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant RecipientsUnknown statusNCT01394835Phase 2
22Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin DeficiencyCompletedNCT01213043Phase 2
23Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin DeficiencyCompletedNCT01054339Phase 2
24Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin DeficiencyCompletedNCT00161707Phase 1, Phase 2
25Study of the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin DeficiencyCompletedNCT00157092Phase 1, Phase 2
26Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation.CompletedNCT01669421Phase 2
27Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE)CompletedNCT00263887Phase 2
28Phase II, Safety and ELF Study of "Kamada-API for Inhalation"CompletedNCT02001688Phase 2
294-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency?CompletedNCT00067756Phase 2
30Safety and Tolerability Trial of Inhaled Alpha1-Proteinase Inhibitor (Human), Hydrophobic Chromatography Process (Alpha-1 HC) in Subjects With Cystic FibrosisCompletedNCT01684410Phase 2
31Deposition of Inhaled Prolastin in Cystic Fibrosis PatientsCompletedNCT00486837Phase 2
32Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin DeficiencyRecruitingNCT01379469Phase 2
33Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin DeficiencyRecruitingNCT02870309Phase 1, Phase 2
34Alpha 1 Anti-Trypsin in Treating Patients With Acute Graft-Versus-Host DiseaseRecruitingNCT01523821Phase 1, Phase 2
35A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver DiseaseActive, not recruitingNCT02503683Phase 1, Phase 2
36Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes MellitusActive, not recruitingNCT02093221Phase 2
37A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host DiseaseActive, not recruitingNCT01700036Phase 2
38Phase II Study to Evaluate the Efficacy and Safety of Glassia® in Type-1 DiabetesActive, not recruitingNCT02005848Phase 2
39Long-term Safety of Alpha1-Proteinase Inhibitor (Human) in Japanese Subjects With Alpha1 Antitrypsin Deficiency (GTI1401-OLE)Enrolling by invitationNCT02870348Phase 1, Phase 2
40Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin DeficiencyNot yet recruitingNCT03008915Phase 2
41Safety Study of Gene Transfer Vector to Treat Alpha1-antitrypsin (A1AT) DeficiencyNot yet recruitingNCT02168686Phase 1, Phase 2
42Ex-vivo Perfusion and Ventilation of Lungs Recovered From Non-Heart-Beating Donors to Assess Transplant SuitabilitySuspendedNCT01615484Phase 2
43Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin LevelsWithdrawnNCT02900183Phase 2
44A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part IIWithdrawnNCT01183455Phase 2
45Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica RelapsesUnknown statusNCT02087813Phase 1
46Pharmacokinetic Study of ARALAST (Human Alpha1- PI)CompletedNCT00242385Phase 1
47Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) DeficiencyCompletedNCT00430768Phase 1
48Safety and Tolerability Study of Liquid Alpha1 Proteinase Inhibitor (API) in Subjects With Cystic FibrosisCompletedNCT01347190Phase 1
49Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (AATD)Active, not recruitingNCT01810458Phase 1
50Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin DeficiencyActive, not recruitingNCT00377416Phase 1

Search NIH Clinical Center for Emphysema Due to Aat Deficiency

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: alpha 1-antitrypsin deficiency

Genetic Tests for Emphysema Due to Aat Deficiency

About this section

Genetic tests related to Emphysema Due to Aat Deficiency:

id Genetic test Affiliating Genes
1 Alpha-1-Antitrypsin Deficiency27
2 Alpha1-Antitrypsin Deficiency24 SERPINA1

Anatomical Context for Emphysema Due to Aat Deficiency

About this section

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

36
Liver, Lung, Testes, Heart, Skeletal muscle

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 TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Publications for Emphysema Due to Aat Deficiency

About this section

Variations for Emphysema Due to Aat Deficiency

About this section

Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.1178C> T (p.Pro393Leu)SNVLikely pathogenicrs199422209GRCh37Chr 14, 94844865: 94844865
2SERPINA1NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys)SNVPathogenicrs28929474GRCh37Chr 14, 94844947: 94844947
3SERPINA1NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val)SNVLikely pathogenicrs121912714GRCh37Chr 14, 94847286: 94847286
4SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenicrs267606950GRCh37Chr 14, 94849023: 94849023
5SERPINA1NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter)SNVLikely pathogenicrs199422211GRCh37Chr 14, 94847404: 94847404
6SERPINA1PI NULL(PROCIDA)deletionPathogenicChr na, -1: -1
7SERPINA1NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg)SNVPathogenicrs121912713GRCh37Chr 14, 94844898: 94844898
8SERPINA1NM_001127701.1(SERPINA1): c.347T> A (p.Ile116Asn)SNVPathogenicrs28931572GRCh37Chr 14, 94849228: 94849228
9SERPINA1NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe)SNVPathogenicrs55819880GRCh37Chr 14, 94849345: 94849345
10SERPINA1NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs)duplicationLikely pathogenicrs764325655GRCh37Chr 14, 94844885: 94844885
11SERPINA1NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter)SNVLikely pathogenicrs199422210GRCh37Chr 14, 94849023: 94849023
12SERPINA1NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg)SNVLikely pathogenicrs764220898GRCh38Chr 14, 94381043: 94381043
13SERPINA1NM_000295.4(SERPINA1): c.646+1G> TSNVLikely pathogenicrs751235320GRCh37Chr 14, 94848928: 94848928
14SERPINA1undetermined variantPathogenicChr na, -1: -1
15SERPINA1undetermined variantPathogenicChr na, -1: -1
16SERPINA1undetermined variantPathogenicChr na, -1: -1
17SERPINA1undetermined variantPathogenicChr na, -1: -1
18SERPINA1undetermined variantPathogenicChr na, -1: -1
19SERPINA1undetermined variantPathogenicChr na, -1: -1
20SERPINA1QOgranite falls alleleundetermined variantPathogenicChr na, -1: -1
21SERPINA1undetermined variantPathogenicChr na, -1: -1
22SERPINA1F variantundetermined variantPathogenicChr na, -1: -1
23SERPINA1NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs)indelPathogenicrs864622043GRCh38Chr 14, 94378591: 94378598
24SERPINA1NM_001127701.1(SERPINA1): c.187C> T (p.Arg63Cys)SNV, HaplotypeLikely pathogenic, Pathogenicrs28931570GRCh37Chr 14, 94849388: 94849388
25SERPINA1NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr)SNVPathogenicrs61761869GRCh38Chr 14, 94378529: 94378529
26SERPINA1NM_001127701.1(SERPINA1): c.538C> T (p.Gln180Ter)SNVLikely pathogenic, Pathogenicrs864622051GRCh38Chr 14, 94382700: 94382700
27SERPINA1NM_001127701.1(SERPINA1): c.1177C> T (p.Pro393Ser)SNVPathogenicrs61761869GRCh37Chr 14, 94844866: 94844866
28SERPINA1NM_000295.4(SERPINA1): c.227_229delTCT (p.Phe76del)deletionPathogenicrs775982338GRCh37Chr 14, 94849346: 94849348
29SERPINA1NM_000295.4(SERPINA1): c.288_291delTCAC (p.His97Metfs)deletionPathogenicGRCh37Chr 14, 94849284: 94849287
30SERPINA1NM_000295.4: c.714delCdeletionLikely pathogenicChr na, -1: -1
31SERPINA1NM_000295.4: c.1A> GSNVLikely pathogenicChr na, -1: -1
32SERPINA1NM_000295.4: c.21G> ASNVLikely pathogenicChr na, -1: -1
33SERPINA1NM_000295.4: c.1018delGdeletionLikely pathogenicChr na, -1: -1
34SERPINA1NM_000295.4: c.646+2T> CSNVLikely pathogenicChr na, -1: -1
35SERPINA1NM_000295.4: c.186C> ASNVLikely pathogenicChr na, -1: -1

Expression for genes affiliated with Emphysema Due to Aat Deficiency

About this section
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
1ORM1orosomucoid 1Lung-4.190.014
2FOSBFBJ murine osteosarcoma viral oncogene homolog BLung+3.190.008

Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.

Pathways for genes affiliated with Emphysema Due to Aat Deficiency

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6A2M, ELANE
29.6ELANE, ELN
3
Show member pathways
9.1A2M, ELANE, ELN

GO Terms for genes affiliated with Emphysema Due to Aat Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.3A2M, SERPINA1, SERPINA3
2extracellular regionGO:00055768.9A2M, ELANE, ELN, SERPINA1, SERPINA3

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

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.4SERPINA1, SERPINA3
2extracellular matrix disassemblyGO:00226179.7A2M, ELANE, ELN
3negative regulation of endopeptidase activityGO:00109519.3A2M, SERPINA1, SERPINA3, SERPINI1
4platelet degranulationGO:00025769.3A2M, SERPINA1, SERPINA3

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.8A2M, ELANE, SERPINA1
2serine-type endopeptidase inhibitor activityGO:00048678.8A2M, SERPINA1, SERPINA3, SERPINI1

Sources for Emphysema Due to Aat Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet