MCID: EMP007
MIFTS: 40

Emphysema Due to Aat Deficiency malady

Categories: Genetic diseases (common), Respiratory diseases, Liver diseases, Blood diseases

Aliases & Classifications for Emphysema Due to Aat Deficiency

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Aliases & Descriptions for Emphysema Due to Aat Deficiency:

Name: Emphysema Due to Aat Deficiency 49 11 32
Alpha-1-Antitrypsin Deficiency 67 24
Hemorrhagic Diathesis Due to \'antithrombin\' Pittsburgh 49
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 65
 
Emphysema-Cirrhosis, Due to Aat Deficiency 49
Alpha 1-Antitrypsin Deficiency 65
A1atd 67

Characteristics:

HPO:

61
emphysema due to aat deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 613490
MedGen34 C0221757
MeSH36 D019896
ICD1027 J43, J43.9
UMLS65 C3501835

Summaries for Emphysema Due to Aat Deficiency

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OMIM:49 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...

MalaCards based summary: Emphysema Due to Aat Deficiency, also known as alpha-1-antitrypsin deficiency, is related to alpha 1-antitrypsin deficiency 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). The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include lung, liver and testes.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Emphysema Due to Aat Deficiency

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



Diseases related to emphysema due to aat deficiency

Symptoms for Emphysema Due to Aat Deficiency

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Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

HPO human phenotypes related to Emphysema Due to Aat Deficiency:

(show all 8)
id Description Frequency HPO Source Accession
1 hepatic failure hallmark (90%) HP:0001399
2 emphysema hallmark (90%) HP:0002097
3 hepatomegaly typical (50%) HP:0002240
4 nephrotic syndrome occasional (7.5%) HP:0000100
5 cirrhosis rare (5%) HP:0001394
6 hepatocellular carcinoma HP:0001402
7 elevated hepatic transaminases HP:0002910
8 chronic obstructive pulmonary disease HP:0006510

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 47004
2Alpha 1-AntitrypsinPhase 4, Phase 2, Phase 3, Phase 187
3Serine Proteinase InhibitorsPhase 4, Phase 2, Phase 3, Phase 1705
4Trypsin InhibitorsPhase 4, Phase 2, Phase 3, Phase 1101
5Protease InhibitorsPhase 4, Phase 2, Phase 3, Phase 14558
6HIV Protease InhibitorsPhase 4, Phase 2, Phase 3, Phase 14558
7Protein C InhibitorPhase 4, Phase 2, Phase 3, Phase 185
8serineNutraceuticalPhase 4, Phase 2, Phase 3, Phase 1770
9Protein CPhase 2, Phase 3, Phase 186
10
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
11Peripheral Nervous System AgentsPhase 218510
12Psychotropic DrugsPhase 25501
13Tranquilizing AgentsPhase 23597
14Liver ExtractsPhase 2, Phase 13572
15AnalgesicsPhase 29358
16Analgesics, Non-NarcoticPhase 25184
17AnticonvulsantsPhase 22249
18Antimanic AgentsPhase 2663
19Central Nervous System DepressantsPhase 210016

Interventional clinical trials:

(show all 17)
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
3GLASSIA Infusion Rate StudyCompletedNCT01651351Phase 4
4Stage 1 Study of ARALAST NP and GLASSIA in A1PIRecruitingNCT02722304Phase 4
5Aralast alpha1-proteinase Inhibitor Surveillance StudyTerminatedNCT00313144Phase 4
6Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin DeficiencyRecruitingNCT01357460Phase 2, Phase 3
7Efficacy 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
8Ph 3/4 GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage StudyRecruitingNCT02525861Phase 3
9Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin DeficiencyCompletedNCT01213043Phase 2
10Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin DeficiencyRecruitingNCT01379469Phase 2
11Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes MellitusActive, not recruitingNCT02093221Phase 2
12Safety and Efficacy of Inhaled Alpha-1 Antitrypsin in Preventing Bronchiolitis Obliterable Syndrome in Lung Transplant RecipientsNot yet recruitingNCT01394835Phase 2
13A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD)RecruitingNCT02363946Phase 1
14Safety Study of Gene Transfer Vector to Treat alpha1-antitrypsin DeficiencyNot yet recruitingNCT02168686Phase 1
15Genomic Research in Alpha-1 Antitrypsin DeficiencyCompletedNCT01832220
16Environment Effect on Six-Minute Walk Test PerformanceRecruitingNCT02502201
17Microbioma in Sputa From COPD With Alpha-1 Antitrypsin DeficiencyNot yet recruitingNCT02547532

Search NIH Clinical Center for Emphysema Due to Aat Deficiency

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Emphysema Due to Aat Deficiency

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Anatomical Context for Emphysema Due to Aat Deficiency

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

33
Lung, Liver, Testes, Skeletal muscle, B cells

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

Animal Models for Emphysema Due to Aat Deficiency or affiliated genes

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Publications for Emphysema Due to Aat Deficiency

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Variations for Emphysema Due to Aat Deficiency

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Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.1096G> A (p.Glu366Lys)single nucleotide variantPathogenicrs28929474GRCh37Chr 14, 94844947: 94844947
2SERPINA1NM_001127701.1(SERPINA1): c.863A> T (p.Glu288Val)single nucleotide variantPathogenicrs17580GRCh37Chr 14, 94847262: 94847262
3SERPINA1NM_001127701.1(SERPINA1): c.187C> T (p.Arg63Cys)single nucleotide variantLikely pathogenic, Pathogenicrs28931570GRCh37Chr 14, 94849388: 94849388
4SERPINA1NM_001127701.1(SERPINA1): c.839A> T (p.Asp280Val)single nucleotide variantLikely pathogenicrs121912714GRCh37Chr 14, 94847286: 94847286
5SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenicrs267606950GRCh37Chr 14, 94849023: 94849023
6SERPINA1NM_000295.4(SERPINA1): c.721A> T (p.Lys241Ter)single nucleotide variantLikely pathogenicrs199422211GRCh37Chr 14, 94847404: 94847404
7SERPINA1NM_001127701.1(SERPINA1): c.230C> T (p.Ser77Phe)single nucleotide variantPathogenicrs55819880GRCh37Chr 14, 94849345: 94849345
8SERPINA1NM_000295.4(SERPINA1): c.1158dupC (p.Glu387Argfs)duplicationLikely pathogenicrs764325655GRCh37Chr 14, 94844885: 94844885
9SERPINA1NM_000295.4(SERPINA1): c.552C> G (p.Tyr184Ter)single nucleotide variantLikely pathogenicrs199422210GRCh37Chr 14, 94849023: 94849023
10SERPINA1NM_000295.4(SERPINA1): c.745G> C (p.Gly249Arg)single nucleotide variantLikely pathogenicrs764220898GRCh38Chr 14, 94381043: 94381043
11SERPINA1NM_000295.4(SERPINA1): c.646+1G> Tsingle nucleotide variantLikely pathogenicrs751235320GRCh37Chr 14, 94848928: 94848928
12SERPINA1NM_000295.4(SERPINA1): c.226_228delTTC (p.Phe76del)deletionPathogenicrs863225263GRCh37Chr 14, 94849347: 94849349
13SERPINA1undetermined variantPathogenic
14SERPINA1undetermined variantPathogenic
15SERPINA1deletionPathogenic
16SERPINA1undetermined variantPathogenic
17SERPINA1undetermined variantPathogenic
18SERPINA1undetermined variantPathogenic
19SERPINA1undetermined variantPathogenic
20SERPINA1undetermined variantPathogenic
21SERPINA1undetermined variantPathogenic
22SERPINA1undetermined variantPathogenic
23SERPINA1undetermined variantPathogenic
24SERPINA1undetermined variantPathogenic
25SERPINA1undetermined variantPathogenic
26SERPINA1undetermined variantPathogenic
27SERPINA1NM_001127701.1(SERPINA1): c.1108_1115delGAAGCTGCinsAAAAACA (p.Glu370Lysfs)indelPathogenicrs864622043GRCh37Chr 14, 94844928: 94844935
28SERPINA1NM_001127701.1(SERPINA1): c.187C> T (p.Arg63Cys)single nucleotide variantLikely pathogenic, Pathogenicrs28931570GRCh37Chr 14, 94849388: 94849388
29SERPINA1NM_001127701.1(SERPINA1): c.1177C> A (p.Pro393Thr)single nucleotide variantPathogenicrs61761869GRCh38Chr 14, 94378529: 94378529
30SERPINA1NM_001127701.1(SERPINA1): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs864622051GRCh37Chr 14, 94849037: 94849037

Expression for genes affiliated with Emphysema Due to Aat Deficiency

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LifeMap Discovery
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 32
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

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GO Terms for genes affiliated with Emphysema Due to Aat Deficiency

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Sources for Emphysema Due to Aat 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