MCID: ALP044
MIFTS: 33

Alpha-1-Antichymotrypsin Deficiency malady

Liver diseases, Respiratory diseases, Metabolic diseases categories

Summaries for Alpha-1-Antichymotrypsin Deficiency

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63Wikipedia, 32MalaCards
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Wikipedia:63 Alpha 1-antichymotrypsin is an alpha globulin glycoprotein that is a member of the serpin superfamily.... more...

MalaCards: Alpha-1-Antichymotrypsin Deficiency, also known as antichymotrypsin deficiency-alpha-1, is related to malaria and cerebrovascular disease. An important gene associated with Alpha-1-Antichymotrypsin Deficiency is SERPINA3 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3), and among its related pathways are Insulin Processing and Renin-angiotensin system. The compounds 2-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid and scca1 have been mentioned in the context of this disorder. Affiliated tissues include liver.

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Liver diseases, Respiratory diseases


Characteristics (Orphanet epidemiological data):

48
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

alpha-1-antichymotrypsin deficiency 46 48
antichymotrypsin deficiency-alpha-1 60


External Ids:

ICD10 via Orphanet26 E88.0
SNOMED-CT via Orphanet57 235909002
UMLS via Orphanet61 C0400965

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Alpha-1-Antichymotrypsin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1malaria10.0SERPINA3
2cerebrovascular disease10.0SERPINA3
3malignant histiocytosis10.0SERPINA3
4glomerulonephritis10.0CTSG
5amyloidosis10.0SERPINA3
6viral hepatitis10.0SERPINA1
7pulmonary disease, chronic obstructive10.0SERPINA1
8peritonitis10.0CTSG, CMA1
9angioedema10.0SERPINA1
10gingivitis10.0CTSG
11mast cell neoplasm10.0CMA1, CTSG
12protein c deficiency10.0SERPINC1
13hemorrhage, intracerebral10.0SERPINA3, SERPINF2
14amyloid tumor10.0CTSG, SERPINA3
15alzheimer's disease10.0CTSG, SERPINA3
16alpha 1-antitrypsin deficiency10.0SERPINA1, SERPINA3
17vasculitis10.0CTSG, SERPINA1
18wegener's granulomatosis10.0SERPINA1, CTSG
19mastocytosis10.0CMA1
20adult respiratory distress syndrome10.0CTSG, SERPINA1
21malignant fibroxanthoma10.0SERPINA3, SERPINA1
22arthritis10.0CTSG, SERPINA1
23pneumonia10.0CTSG, SERPINA1
24pulmonary emphysema10.0SERPINA1, CTSG
25coronary heart disease10.0SERPINF2, SERPINC1
26hemorrhagic disease10.0SERPINF2, SERPINC1
27diabetes mellitus10.0SERPINC1, SERPINA1
28bronchiectasis10.0CTSG, SERPINA3, SERPINA1
29rheumatoid arthritis10.0SERPINA1, SERPINA3, CTSG
30galactosemia10.0SERPINC1, SERPINF2
31cystic fibrosis10.0SERPINA3, SERPINA1, CTSG
32inflammatory bowel disease10.0SERPINA1, CTSG, SERPINA3
33vascular disease10.0SERPINC1, SERPINF2
34pulmonary embolism10.0SERPINC1, SERPINF2
35thrombocytosis10.0SERPINF2, SERPINC1
36thromboembolism10.0SERPINC1, SERPINA3, SERPINF2
37myocardial infarction10.0SERPINA3, SERPINF2, SERPINC1
38disseminated intravascular coagulation10.0SERPINC1, SERPINF2
39venous thrombosis10.0SERPINF2, SERPINC1, CTSG
40cadasil10.0SERPINA3, SERPINF2, SERPINC1
41thrombophilia10.0SERPINF2, SERPINC1
42sepsis10.0SERPINF2, CTSG, SERPINC1
43atherosclerosis10.0CMA1, SERPINC1, SERPINF2
44psoriasis10.0SERPINF2, CMA1, SERPINA1, SERPINA3
45liver cirrhosis10.0SERPINF2, SERPINA1, SERPINC1
46acute myocardial infarction10.0SERPINA1, SERPINC1, SERPINF2
47asthma10.0CMA1, SERPINA3, SERPINA1, CTSG
48nephrotic syndrome10.0SERPINF2, SERPINC1, SERPINA1
49factor v leiden thrombophilia10.0SERPINC1, SERPINF2, SERPINA3, SERPINA1

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



Diseases related to alpha-1-antichymotrypsin deficiency

Clinical Features for Alpha-1-Antichymotrypsin Deficiency

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Drugs & Therapeutics for Alpha-1-Antichymotrypsin Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Alpha-1-Antichymotrypsin Deficiency

Drug clinical trials:

Search ClinicalTrials for Alpha-1-Antichymotrypsin Deficiency

Search NIH Clinical Center for Alpha-1-Antichymotrypsin Deficiency

Search CenterWatch for Alpha-1-Antichymotrypsin Deficiency

Genetic Tests for Alpha-1-Antichymotrypsin Deficiency

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Anatomical Context for Alpha-1-Antichymotrypsin Deficiency

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32MalaCards
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MalaCards organs/tissues related to Alpha-1-Antichymotrypsin Deficiency:

32
Liver

Animal Models for Alpha-1-Antichymotrypsin Deficiency or affiliated genes

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Publications for Alpha-1-Antichymotrypsin Deficiency

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Genetic Variations for Alpha-1-Antichymotrypsin Deficiency

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Expression for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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

Pathways for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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Sources:
53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 52R&D Systems
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Compounds for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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Sources:
11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
12-[3-({Methyl[1-(2-Naphthoyl)Piperidin-4-Yl]Amino}Carbonyl)-2-Naphthyl]-1-(1-Naphthyl)-2-Oxoethylphosphonic Acid119.9CMA1, CTSG
2scca1449.8CTSG, CMA1
3fibrinopeptide a449.7SERPINC1, SERPINF2
4eaca449.6SERPINC1, SERPINF2
5chymostatin449.5CTSG, CMA1, SERPINA3
6serine449.5CTSG, CMA1, SERPINA3
7desmopressin44 59 28 1112.4SERPINC1, SERPINF2
8hocl449.4SERPINA1, CTSG
9hirudin449.3SERPINC1, SERPINF2
10urea44 11 2411.3SERPINF2, SERPINA3, CTSG
11txb2449.2SERPINF2, CTSG
12epsilon aminocaproic acid449.2SERPINF2, SERPINC1, CTSG
13ristocetin449.2CTSG, SERPINC1, SERPINF2
14kininogen449.2SERPINF2, SERPINC1, CTSG
15aprotinin44 1110.1SERPINF2, SERPINC1, CTSG
16heparan sulfate44 2410.1SERPINF2, SERPINC1, CTSG
17polyacrylamide449.0SERPINA3, SERPINA1, CTSG
18methionine448.9SERPINA3, SERPINA1, CTSG
19heparin44 28 11 2411.7CTSG, CMA1, SERPINA1, SERPINA3
20arginine448.7CTSG, SERPINA3, SERPINC1, SERPINF2
21paraffin448.6CTSG, CMA1, SERPINA1, SERPINA3
22diisopropylfluorophosphate448.6SERPINC1, SERPINA3, SERPINA1, CTSG
23alanine448.6CTSG, SERPINA3, SERPINC1, SERPINF2
24creatinine448.5CTSG, SERPINA1, SERPINA3, SERPINC1
25cholesterol44 28 11 2411.5CMA1, SERPINA1, SERPINA3, SERPINF2
26cysteine448.4SERPINA3, SERPINA1, CMA1, CTSG
27lysine448.2CTSG, SERPINA1, SERPINF2
28lipid448.1SERPINF2, SERPINA3, SERPINA1, CTSG
29polysaccharide448.0CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
30fibrinogen448.0SERPINF2, SERPINC1, SERPINA3, SERPINA1, CTSG

GO Terms for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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16Gene Ontology
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Cellular components related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0SERPINF2, SERPINA1
2extracellular spaceGO:0056157.3CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
3extracellular regionGO:0055767.1SERPINF2, SERPINC1, SERPINA3, SERPINA1, CMA1, CTSG

Biological processes related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1angiotensin maturationGO:0020039.5CMA1, CTSG
2extracellular matrix disassemblyGO:0226179.2CMA1, CTSG
3platelet degranulationGO:0025769.0SERPINF2, SERPINA1
4acute-phase responseGO:0069538.7SERPINA1, SERPINA3, SERPINF2
5blood coagulationGO:0075968.4SERPINA1, SERPINC1, SERPINF2
6regulation of proteolysisGO:0301628.3SERPINF2, SERPINC1, SERPINA3, SERPINA1
7negative regulation of endopeptidase activityGO:0109518.2SERPINF2, SERPINC1, SERPINA3, SERPINA1

Molecular functions related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020208.5SERPINF2, SERPINC1, SERPINA1
2serine-type endopeptidase inhibitor activityGO:0048677.8SERPINF2, SERPINC1, SERPINA3, SERPINA1

Products for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-1-Antichymotrypsin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet