MCID: ALP007
MIFTS: 44

Alpha 1-Antitrypsin Deficiency malady

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

Aliases & Classifications for Alpha 1-Antitrypsin Deficiency

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 21GeneReviews, 45NIH Rare Diseases, 11diseasecard, 23Genetics Home Reference, 35MedlinePlus, 22GeneTests, 51Orphanet, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Alpha 1-Antitrypsin Deficiency:

Name: Alpha 1-Antitrypsin Deficiency 32 10 68 47 12 36 65
Alpha-1 Antitrypsin Deficiency 21 45 23 35
Aatd 21 45 22 23
A1at Deficiency 21 45 22
Aat Deficiency 10 21 45
Hereditary Pulmonary Emphysema 68 23
Alpha 1 Antitrypsin Deficiency 45 22
Alpha-1-Antitrypsin Deficiency 22 51
Alpha-1 Related Emphysema 68 23
Inherited Emphysema 68 23
 
Genetic Emphysema 68 23
Aat 68 23
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 65
Deficiency in Alpa-1-Proteinase Inhibitor 51
Alpha-1 Protease Inhibitor Deficiency 23
Emphysema, Hereditary Pulmonary 65
Alpha1-Antitrypsin Deficiency 22
Alpha-1 Proteinase Inhibitor 68
Alpha-1-Antitrypsin 11

Characteristics:

Orphanet epidemiological data:

51
alpha-1-antitrypsin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages

Classifications:



External Ids:

Disease Ontology10 DOID:13372
ICD1027 E88.01
ICD9CM29 273.4
MeSH36 D019896
NCIt42 C84397
SNOMED-CT59 154771007, 30188007
Orphanet51 60
UMLS via Orphanet66 C0221757
ICD10 via Orphanet28 E88.0
MESH via Orphanet37 C531610, D019896
UMLS65 C0221757, C3501835, C1851718

Summaries for Alpha 1-Antitrypsin Deficiency

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NIH Rare Diseases:45 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: Alpha 1-Antitrypsin Deficiency, also known as alpha-1 antitrypsin deficiency, is related to melanoma and fibrosarcoma, and has symptoms including hepatocellular liver disease/hepatic failure, emphysema and autosomal recessive inheritance. An important gene associated with Alpha 1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways is Cell adhesion_Cell-matrix glycoconjugates. The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include lung, liver and testes.

Disease Ontology:10 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:23 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.

MedlinePlus:35 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

Wikipedia:68 Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...

GeneReviews summary for NBK1519

Related Diseases for Alpha 1-Antitrypsin Deficiency

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Diseases related to Alpha 1-Antitrypsin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 208)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma31.0SERPINA1, SERPINA3
2fibrosarcoma30.6SERPINA1, SERPINA3
3hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation12.3
4emphysema due to aat deficiency11.6
5atypical hemolytic-uremic syndrome with h factor anomaly10.4SERPINA1, SERPINA3
6epithelioid sarcoma10.4SERPINA1, SERPINA3
7olfactory nerve disease10.4SERPINA1, SERPINA3
8sclerosing keratitis10.4SERPINA1, SERPINA3
9diphtheria10.4SERPINA1, SERPINA3
10leukemia10.4
11granulomatous dermatitis10.4SERPINA1, SERPINA3
12gallbladder cancer10.4
13adult endodermal sinus tumor10.4SERPINA1, SERPINA3
14ovarian large-cell neuroendocrine carcinoma10.4SERPINA1, SERPINA3
15lymphoplasmacyte-rich meningioma10.4SERPINA1, SERPINA3
16panniculitis10.4ELANE, SERPINA1
17hepatitis10.3
18pneumoconiosis due to talc10.3HFE, SERPINA1
19lipoprotein glomerulopathy10.3HFE, SERPINA3
20verrucous keratotic hemangioma10.3SERPINA3, SERPINA6
21obesity10.3
22cervicitis10.3
23adenocarcinoma10.3
24pancreatitis10.3
25hiv-110.2
26thromboangiitis obliterans10.2
27allergic conjunctivitis10.2
28dyskeratosis congenita10.2
29conjunctivitis10.2
30cerebritis10.2
31inferior myocardial infarction10.2SERPINA1, SERPINC1
32luminal breast carcinoma10.2SERPINA1, SERPINC1
33monoclonal paraproteinemia10.2ELANE, SERPINA1, SERPINA3
34prostate cancer10.2
35prostatitis10.2
36epidermolysis bullosa10.2
37kidney disease10.2
38duodenitis10.2
39exencephaly10.2
40mosaic trisomy 1510.2
41endotheliitis10.2
42cerebral cavernous malformations 310.1SERPINC1, SERPINI1
43optic nerve disease10.1HFE, SERPINA1
44malaria10.1
45endocarditis10.1CXCL8, SERPINA1
46critical illness polyneuropathy10.1CXCL8, ELANE
47neuroblastoma10.0
48fucosidosis10.0
49myocardial infarction10.0
50porphyria cutanea tarda10.0

Graphical network of the top 20 diseases related to Alpha 1-Antitrypsin Deficiency:



Diseases related to alpha 1-antitrypsin deficiency

Symptoms for Alpha 1-Antitrypsin Deficiency

About this section

Symptoms:

 51
  • hepatocellular liver disease/hepatic failure
  • emphysema
  • autosomal recessive inheritance
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • nephrotic syndrome

HPO human phenotypes related to Alpha 1-Antitrypsin Deficiency:

id Description Frequency HPO Source Accession
1 chronic obstructive pulmonary disease HP:0006510
2 chronic bronchitis HP:0004469
3 emphysema HP:0002097

Drugs & Therapeutics for Alpha 1-Antitrypsin Deficiency

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Zemaira15 Aventis Behring July 2003
FDA Label: -
Disease/s that Drug Treats:Alpha1-proteinase inhibitor deficiency
Indications and Usage:15 -
DrugBank Targets:13 Neutrophil elastase
Mechanism of Action:15 
Target: neutrophil elastase (NE)
Action: inhibitor
FDA: -

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

(show top 50)    (show all 108)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethylprednisoloneapprovedPhase 4, Phase 1108283-43-26741
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
A-methapred
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)
Depo-medrol
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
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
2
PrednisoloneapprovedPhase 4, Phase 1108250-24-85755
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
Flo-pred
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
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
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
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 42972332-33-3688561
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]
SID11113915
SID26752069
SPBio_001400
STK632659
Spectrum2_001550
Spectrum3_001770
4Alpha 1-AntitrypsinPhase 4, Phase 3, Phase 2, Phase 187
5Neurotransmitter AgentsPhase 4, Phase 114795
6Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 118510
7Respiratory System AgentsPhase 43931
8Bronchodilator AgentsPhase 42377
9Anti-Asthmatic AgentsPhase 42796
10Serine Proteinase InhibitorsPhase 4, Phase 3, Phase 2, Phase 1705
11Protein C InhibitorPhase 4, Phase 3, Phase 2, Phase 185
12Protease InhibitorsPhase 4, Phase 3, Phase 2, Phase 14558
13HIV Protease InhibitorsPhase 4, Phase 3, Phase 2, Phase 14558
14Pharmaceutical SolutionsPhase 4, Phase 2, Phase 17004
15Trypsin InhibitorsPhase 4, Phase 3, Phase 2, Phase 1101
16AlbuterolPhase 4384
17Prednisolone phosphatePhase 4, Phase 11082
18Adrenergic beta-AgonistsPhase 41266
19Tocolytic AgentsPhase 4561
20Adrenergic beta-2 Receptor AgonistsPhase 4741
21Prednisolone hemisuccinatePhase 4, Phase 11082
22Prednisolone acetatePhase 4, Phase 11082
23Methylprednisolone HemisuccinatePhase 4, Phase 11082
24Adrenergic AgonistsPhase 42331
25Adrenergic AgentsPhase 44204
26Methylprednisolone acetatePhase 4, Phase 11082
27serineNutraceuticalPhase 4, Phase 3, Phase 2, Phase 1770
28
Mycophenolate mofetilapproved, investigationalPhase 3898128794-94-55281078
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
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
29
Mycophenolic acidapprovedPhase 389824280-93-1446541
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
Mycophenolic Acid
Mycophenolsaeure
Myfortic
30Protein CPhase 3, Phase 2, Phase 186
31Antibiotics, AntitubercularPhase 35971
32Anti-Bacterial AgentsPhase 39140
33Immunologic FactorsPhase 318483
34Immunosuppressive AgentsPhase 310422
35Omega 3 Fatty AcidNutraceuticalPhase 3912
36
Carbamazepineapproved, investigationalPhase 2118298-46-42554
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
Carbamazepine (JP15/USP/INN)
Carbamazepine ER
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
Mazepine
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
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
37
butyric acidexperimentalPhase 2292107-92-6264
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
384-phenylbutyric acidPhase 248
39Liver ExtractsPhase 2, Phase 13572
40Central Nervous System DepressantsPhase 2, Phase 110016
41Tranquilizing AgentsPhase 2, Phase 13597
42Psychotropic DrugsPhase 2, Phase 15501
43Antimanic AgentsPhase 2663
44Analgesics, Non-NarcoticPhase 2, Phase 15184
45AnalgesicsPhase 2, Phase 19358
46AnticonvulsantsPhase 2, Phase 12249
47DextransPhase 272
48
Midazolamapproved, illicitPhase 163559467-70-84192
Synonyms:
4H-Imidazo[1,5-a][1,4]benzodiazepine, 8-chloro-6-(2-fluoro-phenyl)-1-methyl-, (Z)-2-butenedioate
59467-70-8
8-Chlor-6-(2-fluorphenyl)-1-methyl-4H-imidazo(1,5-a)(1,4)benzodiazepin
8-Chloro-6-(2-fluorophenyl)-1-methyl-4H-imidazo[1,5-a][1,4]benzodiazepine
8-Chloro-6-(2-fluorophenyl)-1-methyl-4H-imidazo[1,5a][1,4]benzodiazepine hydrochloride
8-Chloro-6-(O-fluorophenyl)-1-methyl-4H-imidazo[1,5-a][1,4]-benzodiazepine
8-Chloro-6-(o-fluorophenyl)-1-methyl-4H-imidazo(1,5-a)(1,4)benzodiazepine
AC-18749
AC1L1HMA
BIDD:GT0647
BRN 0625572
Buccolam
C07524
C18H13ClFN3
CHEMBL655
CID4192
D00550
DB00683
DEA No. 2884
Dazolam
Dea No. 2884
Dormicum
 
Dormicum (TN)
EINECS 261-774-5
LS-77780
Midanium
Midazolam
Midazolam (JAN/INN)
Midazolam Base
Midazolam Hcl
Midazolam Hydrochloride
Midazolam [INN:BAN:JAN]
Midazolamum
Midazolamum [INN-Latin]
Midosed
MolPort-003-849-219
NCGC00168254-01
Ro 21-3981
TL8003787
UC429_SIGMA
UNII-R60L0SM5BC
Versed
ZINC00001732
midazolam
nchembio747-comp32
49
OndansetronapprovedPhase 128599614-02-54595
Synonyms:
(RS)-1,2,3,9-Tetrahydro-9-methyl-3-(2-methylimidazol-1-ylmethyl)carbazol-4-one
1,2,3,9-Tetrahydro-9-methyl-3-((2-methyl-1H-imidazol-1-yl)methyl)-4H-carbazol-4-one
103639-04-9 (mono-hydrochloride dihydrate)
108303-49-7
116002-70-1
9-Methyl-3-(2-methyl-imidazol-1-ylmethyl)-1,2,3,9-tetrahydro-carbazol-4-one
9-methyl-3-[(2-methyl-1H-imidazol-1-yl)methyl]-1,2,3,9-tetrahydro-4H-carbazol-4-one
9-methyl-3-[(2-methylimidazol-1-yl)methyl]-2,3-dihydro-1H-carbazol-4-one
99614-01-4 (mono-hydrochloride)
99614-02-5
AB00373674
AC1L1IIM
AKOS000599484
Apo-ondansetron
BAS 00717177
BPBio1_001118
BRD-A19736161-001-01-8
BRD-A19736161-003-03-0
BRN 3622981
BSPBio_001016
C07325
C18H19N3O
CBDivE_008994
CHEMBL46
CID4595
CPD001307702
D00456
DB00904
DESMETHYLONDANSETRON
GR 38032
GR 38032X
GR-38032F
GR38032F
HMS2090H16
I06-0687
I06-1329
L000456
 
LS-172305
LS-51878
MolPort-001-944-253
NCI60_022780
Novo-ondansetron
Ondansetron
Ondansetron (JAN/USP/INN)
Ondansetron Hydrochloride
Ondansetron [USAN:INN:BAN]
Ondansetron hydrochloride dihydrate
Ondansetron, (+,-)-Isomer
Oprea1_435466
Oprea1_852372
PHL-ondansetron
PMS-ondansetron
Prestwick0_001058
Prestwick1_001058
Prestwick2_001058
Prestwick3_001058
Ratio-ondansetron
SAM002589958
SN-307
SPBio_002938
STK370548
STOCK4S-10990
Sandoz ondansetron
TL8006071
TimTec1_001750
UNII-4AF302ESOS
ZOFRAN IN PLASTIC CONTAINER
Zofran
Zofran ODT
Zofran ODT (TN)
Zofran odt
Zophren
Zudan
Zuplenz
ondansetron
ondansetron (Zofran)
50
LorazepamapprovedPhase 1112846-49-13958
Synonyms:
(+-)-7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
(+/-)-Lorazepam
(±)-Lorazepam
5-25-02-00248 (Beilstein Handbook Reference)
7-Chloro-5-(2-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1H-1,4-benzodiazepin-2(3H)-one
7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-1,4-benzodiazepin-2-one
846-49-1
AC1L1H3H
AHP Brand of Lorazepam
Almazine
Alzapam
Anxiedin
Anxira
Anzepam
Aplacasse
Aplacassee
Apo Lorazepam
Apo-Lorazepam
ApoLorazepam
Apotex Brand of Lorazepam
Aripax
Ativan
Ativan (TN)
Azurogen
BRN 0759084
Baxter Brand of Lorazepam
Bonatranquan
Bonton
CHEBI:116959
CHEMBL580
CID3958
CPD000058410
D00365
D008140
DB00186
DEA No. 2885
Delormetazepam
Demethyllormetazepam
Desitin Brand of Lorazepam
DivK1c_000965
Dolorgiet Brand of Lorazepam
Donix
Duralozam
Durazolam
EINECS 212-687-6
Efasedan
Emotion
Emotival
Equitam
HMS2052H07
HMS503A11
IDI1_000965
Idalprem
KBio1_000965
Kalmalin
L-Lorazepam Acetate
L1764_SIGMA
LS-34141
Larpose
Laubeel
Llorens Brand of Lorazepam
Lomesta
Lopam
Lorabenz
Lorafen
Loram
Lorans
Lorapam
Lorat
Lorax
Loraz
Lorazene
Lorazep
Lorazepam
Lorazepam (JP15/USP/INN)
Lorazepam AHP Brand
Lorazepam Apotex Brand
Lorazepam Baxter Brand
Lorazepam Desitin Brand
Lorazepam Dolorgiet Brand
Lorazepam Fabra
Lorazepam Genericon
Lorazepam Intensol
Lorazepam Lannacher
Lorazepam Llorens Brand
Lorazepam Medical
Lorazepam Medical Brand
Lorazepam Medix Brand
Lorazepam Novartis Brand
Lorazepam Novopharm Brand
Lorazepam Nu-Pharm Brand
Lorazepam Riemser Brand
Lorazepam Wyeth Brand
Lorazepam [USAN:INN:BAN:JAN]
 
Lorazepam ct-Arzneimittel Brand
Lorazepam neuraxpharm
Lorazepam neuraxpharm Brand
Lorazepam preservative free
Lorazepam ratiopharm
Lorazepam ratiopharm Brand
Lorazepam-Efeka
Lorazepam-neuraxpharm
Lorazepam-ratiopharm
Lorazepamum
Lorazepamum [INN-Latin]
Lorazepan Chobet
Lorazepan Richet
Lorazin
Lorazon
Lorenin
Loridem
Lorivan
Lormetazepam
Lorsedal
Lorsilan
Lorzem
Lozepam
Max Pax
Medical Brand of Lorazepam
Medical, Lorazepam
Medix Brand of Lorazepam
Merck dura Brand of Lorazepam
Merlit
Methyllorazepam
MolPort-002-051-769
N-Methyllorazepam
NCGC00159439-02
NINDS_000965
NSC 289758
NSC289758
Nervistop L
Nervistopl
Norlormetazepam
Novartis Brand of Lorazepam
Novhepar
Novo Lorazem
Novo-Lorazem
Novolorazem
Novopharm Brand of Lorazepam
Nu Loraz
Nu Pharm Brand of Lorazepam
Nu-Loraz
Nu-Pharm Brand of Lorazepam
NuLoraz
O-Chlorooxazepam
O-Chloroxazepam
Orfidal
Orfidal Wyeth
Pro Dorm
Pro dorm
Psicopax
Punktyl
Quait
Renaquil
Riemser Brand of Lorazepam
Rocosgen
SAM001246833
Securit
Sedatival
Sedazin
Sedicepan
Sedizepan
Serra Pamies Brand of Lorazepam
Sidenar
Silence
Sinestron
Somagerol
Stapam
Tavor
Temesta
Tolid
Tranqipam
Trapax
UNII-O26FZP769L
Upan
Vigiten
WLN: T67 GMV JN IHJ CG IQ KR BG
WY4036
Wy 4036
Wy-4036
Wyeth Brand of Lorazepam
Wyeth, Orfidal
Wypax
ct Arzneimittel Brand of Lorazepam
ct-Arzneimittel Brand of Lorazepam
lorazep von ct
lorazepam
lorazepam (Ativan)
nchembio747-comp26
neuraxpharm Brand of Lorazepam
o-Chlorooxazepam
o-Chloroxazepam
ratiopharm Brand of Lorazepam

Interventional clinical trials:

(show top 50)    (show all 77)
idNameStatusNCT IDPhase
1Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency.CompletedNCT00670007Phase 4
2Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor DeficiencyCompletedNCT00261833Phase 4
3Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor)CompletedNCT00396006Phase 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
8Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient AdultsCompletedNCT00295061Phase 3
9The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) DeficiencyCompletedNCT00301366Phase 3
10Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin DeficiencyCompletedNCT00460096Phase 2, Phase 3
11A Study to Assess Safety and PK of Liquid Alpha1-Proteinase Inhibitor (Human) in Treating Alpha1-Antitrypsin DeficiencyCompletedNCT02282527Phase 2, Phase 3
12A Study of CellCept (Mycophenolate Mofetil) in Lung Transplant RecipientsCompletedNCT01014442Phase 3
13Omega 3 Supplementation in Cystic Fibrosis PatientsCompletedNCT00959010Phase 3
14Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin DeficiencyRecruitingNCT01357460Phase 2, Phase 3
15Efficacy 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
16Ph 3/4 GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage StudyRecruitingNCT02525861Phase 3
17Phase II-III Study to Evaluate the Efficacy and Safety of Glassia® in Type-1 DiabetesRecruitingNCT02005848Phase 2, Phase 3
18International Study Evaluating the Safety and Efficacy of Inhaled, Human, Alpha-1 Antitrypsin (AAT) in Alpha-1 Antitrypsin Deficient Patients With EmphysemaActive, not recruitingNCT01217671Phase 2, Phase 3
19Safety and Efficacy of (α1Proteinase Inhibitor, α1PI) in HIV DiseaseTerminatedNCT01731691Phase 2, Phase 3
20Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin DeficiencyCompletedNCT01213043Phase 2
21Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin DeficiencyCompletedNCT00161707Phase 1, Phase 2
22Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE)CompletedNCT00263887Phase 2
23Study of the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin DeficiencyCompletedNCT00157092Phase 1, Phase 2
244-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency?CompletedNCT00067756Phase 2
25Safety and Tolerability Trial of Inhaled Alpha1-Proteinase Inhibitor (Human), Hydrophobic Chromatography Process (Alpha-1 HC) in Subjects With Cystic FibrosisCompletedNCT01684410Phase 2
26Deposition of Inhaled Prolastin in Cystic Fibrosis PatientsCompletedNCT00486837Phase 2
27Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin DeficiencyRecruitingNCT01379469Phase 2
28Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation.RecruitingNCT01669421Phase 2
29Phase II, Safety and ELF Study of "Kamada-API for Inhalation"RecruitingNCT02001688Phase 2
30Alpha 1 Anti-Trypsin in Treating Patients With Acute Graft-Versus-Host DiseaseRecruitingNCT01523821Phase 1, Phase 2
31A Pilot Study of Alpha-1-Antitrypsin (AAT) in Steroid Refractory Acute Graft vs Host DiseaseRecruitingNCT01700036Phase 2
32Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin DeficiencyActive, not recruitingNCT01054339Phase 2
33A 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
34Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes MellitusActive, not recruitingNCT02093221Phase 2
35Phase 2 Study of Ex-vivo Perfusion and Ventilation of Lungs to Assess Transplant SuitabilityActive, not recruitingNCT01241942Phase 2
36Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant RecipientsNot yet recruitingNCT01394835Phase 2
37Ex-vivo Perfusion and Ventilation of Lungs Recovered From Non-Heart-Beating Donors to Assess Transplant SuitabilitySuspendedNCT01615484Phase 2
38A Research Trial of Aralast NP in New Onset Diabetes (RETAIN) - Part IIWithdrawnNCT01183455Phase 2
39Pharmacokinetic Study of ARALAST (Human Alpha1- PI)CompletedNCT00242385Phase 1
40Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin DeficiencyCompletedNCT00430768Phase 1
41Safety and Tolerability Study of Liquid Alpha1 Proteinase Inhibitor (API) in Subjects With Cystic FibrosisCompletedNCT01347190Phase 1
42Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (AATD)RecruitingNCT01810458Phase 1
43A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD)RecruitingNCT02363946Phase 1
44Pilot Study of alpha1-antitrypsin to Treat Neuromyelitis Optica RelapsesRecruitingNCT02087813Phase 1
45Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin DeficiencyActive, not recruitingNCT00377416Phase 1
46Safety Study of Gene Transfer Vector to Treat alpha1-antitrypsin DeficiencyNot yet recruitingNCT02168686Phase 1
47Prevalence of Alpha-1 Antitrypsin Deficiency in Chronic Obstructive Pulmonary Disease (COPD)CompletedNCT01419158
48Effects of Exercise Training in Chronic Obstructive Pulmonary Disease Versus Alpha-1-Antitrypsin-deficiency-patientsCompletedNCT01380626
49Genomic Research in Alpha-1 Antitrypsin DeficiencyCompletedNCT01832220
50The Use of High Resolution Chest Computed Tomography in Alpha-1 Antitrypsin DeficiencyCompletedNCT00532805

Search NIH Clinical Center for Alpha 1-Antitrypsin Deficiency

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: alpha 1-antitrypsin deficiency

Genetic Tests for Alpha 1-Antitrypsin Deficiency

About this section

Genetic tests related to Alpha 1-Antitrypsin Deficiency:

id Genetic test Affiliating Genes
1 Alpha1-Antitrypsin Deficiency22 SERPINA1

Anatomical Context for Alpha 1-Antitrypsin Deficiency

About this section

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

33
Lung, Liver, Testes, Heart, Skin, Neutrophil, Breast

Animal Models for Alpha 1-Antitrypsin Deficiency or affiliated genes

About this section

Publications for Alpha 1-Antitrypsin Deficiency

About this section

Articles related to Alpha 1-Antitrypsin Deficiency:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Long-term motor, cognitive and behavioral outcome of acute disseminated encephalomyelitis. (26876769)
2016
2
Enteropathy-associated T-cell lymphoma: involvement of the gastrointestinal tract from the duodenum to the rectum. (26115398)
2015
3
Expression and activation of caspase-6 in human fetal and adult tissues. (24265764)
2013
4
Antiphospholipid antibodies mediate autoimmunity against dying cells. (23713583)
2013
5
MeCP2-mediated alterations of striatal features accompany psychomotor deficits in a mouse model of Rett syndrome. (24218106)
2013
6
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. (23896186)
2013
7
Review on the worldwide epidemiology of uveitis. (23661536)
2013
8
Diabetes, schizophrenia and metabolic effects of antipsychotic drugs. (24397022)
2013
9
Cholera vaccine: new preventive tool for endemic countries. (22634452)
2012
10
A review of the management of pulmonary arterial hypertension associated with congenital heart disease. (21093377)
2012
11
Proteolytic activation of heparin-binding EGF-like growth factor by membrane-type matrix metalloproteinase-1 in ovarian carcinoma cells. (20946474)
2011
12
Cochlear implantation in a patient with atypical Cogan's syndrome complicated with hypertrophic cranial pachymeningitis. (20576375)
2010
13
Dissociation between fatty liver and insulin resistance in humans carrying a variant of the patatin-like phospholipase 3 gene. (19651814)
2009
14
Vascular endothelial growth factor pathway-targeted therapy as initial systemic treatment of patients with renal cancer. (19891126)
2008
15
E-cadherin gene alterations in gastric cancers in different ethnic populations. (18646324)
2008
16
Detection of carcinoembryonic antigen messenger RNA-expressing cells in peripheral blood 7 days after curative surgery is a novel prognostic factor in colorectal cancer. (17200912)
2007
17
Childhood-onset skin necrosis resulting from protein C deficiency. (17373985)
2007
18
Effect of physical exercise on esophageal motility in patients with esophageal disease. (16336607)
2005
19
A comparison of fulvestrant and the third-generation aromatase inhibitors in the second-line treatment of postmenopausal women with advanced breast cancer. (15908126)
2005
20
Inhibitory effects of chloride on the activation of caspase-1, IL-1beta secretion, and cytolysis by the P2X7 receptor. (16301672)
2005
21
Lack of pharmacokinetic interactions between cilomilast and theophylline or smoking in healthy volunteers. (15317832)
2004
22
Expression of down stream molecules of RET (p-ERK, p-p38 MAPK, p-JNK and p-AKT) in papillary thyroid carcinomas. (15119004)
2004
23
Biochemical aspects and functional role of the copper-containing amine oxidases. (15035803)
2003
24
How cost-effective are new preventive strategies for cardiovascular disease? (12781905)
2003
25
The structure of the human oncogenesis-associated CKAP2 (LB1) gene]. (12500535)
2002
26
Cellular schwannoma of the paranasal sinuses: initial report of a case. (11987747)
2002
27
Restoration of epithelial cell polarity in a colorectal cancer cell line by suppression of beta-catenin/T-cell factor 4-mediated gene transactivation. (11289158)
2001
28
Activation of circulating platelets and platelet response to activating agents in children with cyanotic congenital heart disease: their relevance to palliative systemic-pulmonary shunt. (11399341)
2001
29
Exclusion of insulin receptor substrate 2 (IRS-2) as a major locus for early-onset autosomal dominant type 2 diabetes. (10078569)
1999
30
Polyarteritis nodosa mimicking polymyalgia rheumatica. (11206355)
1999
31
Increase in AP-1 activity is a general event in thyroid cell transformation in vitro and in vivo. (9690519)
1998
32
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. (9510404)
1998
33
Lipoprotein trafficking in vascular cells. Molecular Trojan horses and cellular saboteurs. (9287290)
1997
34
Low-grade adenosquamous carcinoma of the breast: a case report with cytologic findings and review of the literature. (9103219)
1997
35
Patellofemoral pain syndrome: diagnosis and management. (9048392)
1997
36
Reduction of granulocyte activation during hemodialysis with regional citrate anticoagulation: dissociation of complement activation and neutropenia from neutrophil degranulation. (8785392)
1996
37
Expression of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in giant cell tumour of tendon sheath. (8943820)
1996
38
Engineering the lac permease for purification and crystallization. (8786234)
1996
39
Association of p107 with Sp1: genetically separable regions of p107 are involved in regulation of E2F- and Sp1-dependent transcription. (7565695)
1995
40
Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. (7655460)
1995
41
Does mixed connective tissue disease exist in India? (7633796)
1995
42
Comparison of gene therapy with interleukin-2 gene modified fibroblasts and tumor cells in the murine CT-26 model of colorectal carcinoma. (7582256)
1995
43
Guillain-BarrAc syndrome following fulminant viral hepatitis A. (7718965)
1994
44
Prevention and treatment of osteoporosis. One of the most frequent disorders in American women: a review. (1293248)
1992
45
Gastric antral vascular ectasia. (1842378)
1991
46
Hyperacusis and otitis media in individuals with Williams syndrome. (2329796)
1990
47
The human PGM-2 and its chromosomal localization in man-mouse hybrids. (885546)
1977
48
Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. (5567894)
1971
49
Effects of asphyxia neonatorum on behavior in the Rhesus monkey. (14497712)
1961
50
Gonadal influences on plasma fibrin and fibrinolytic activity: a possible basis for the further analysis of some forms of coronary thrombosis. (13490353)
1958

Variations for Alpha 1-Antitrypsin Deficiency

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Expression for genes affiliated with Alpha 1-Antitrypsin Deficiency

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Search GEO for disease gene expression data for Alpha 1-Antitrypsin Deficiency.

Pathways for genes affiliated with Alpha 1-Antitrypsin Deficiency

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ELANE, ELN

GO Terms for genes affiliated with Alpha 1-Antitrypsin Deficiency

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Biological processes related to Alpha 1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:00069539.6HFE, SERPINA1, SERPINA3
2negative regulation of endopeptidase activityGO:00109518.3SERPINA1, SERPINA3, SERPINA6, SERPINC1, SERPINI1

Sources for Alpha 1-Antitrypsin Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet