MCID: ALP044
MIFTS: 21

Alpha-1-Antichymotrypsin Deficiency malady

Liver, Respiratory, Metabolic categories

Summaries for Alpha-1-Antichymotrypsin Deficiency

Sources:
33MalaCards
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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.

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

alpha-1-antichymotrypsin deficiency 47 49
antichymotrypsin deficiency-alpha-1 61


External Ids:

ICD10 via Orphanet26 E88.0
SNOMED-CT via Orphanet58 235909002
UMLS via Orphanet62 C0400965

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

Sources:
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

Drugs & Therapeutics for Alpha-1-Antichymotrypsin Deficiency

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Alpha-1-Antichymotrypsin Deficiency

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Alpha-1-Antichymotrypsin Deficiency

Genetic Variations for Alpha-1-Antichymotrypsin Deficiency

Expression for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

Sources:
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

Sources:
54Reactome, 30KEGG, 50PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore, 53R&D Systems
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Compounds for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

Sources:
11DrugBank, 45Novoseek, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

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
2scca1459.8CTSG, CMA1
3fibrinopeptide a459.7SERPINC1, SERPINF2
4eaca459.6SERPINC1, SERPINF2
5chymostatin459.5CTSG, CMA1, SERPINA3
6serine459.5CTSG, CMA1, SERPINA3
7desmopressin45 60 29 1112.4SERPINC1, SERPINF2
8hocl459.4SERPINA1, CTSG
9hirudin459.3SERPINC1, SERPINF2
10urea45 11 2411.3SERPINF2, SERPINA3, CTSG
11txb2459.2SERPINF2, CTSG
12epsilon aminocaproic acid459.2SERPINF2, SERPINC1, CTSG
13ristocetin459.2CTSG, SERPINC1, SERPINF2
14kininogen459.2SERPINF2, SERPINC1, CTSG
15aprotinin45 1110.1SERPINF2, SERPINC1, CTSG
16heparan sulfate45 2410.1SERPINF2, SERPINC1, CTSG
17polyacrylamide459.0SERPINA3, SERPINA1, CTSG
18methionine458.9SERPINA3, SERPINA1, CTSG
19heparin45 29 11 2411.7CTSG, CMA1, SERPINA1, SERPINA3
20arginine458.7CTSG, SERPINA3, SERPINC1, SERPINF2
21paraffin458.6CTSG, CMA1, SERPINA1, SERPINA3
22diisopropylfluorophosphate458.6SERPINC1, SERPINA3, SERPINA1, CTSG
23alanine458.6CTSG, SERPINA3, SERPINC1, SERPINF2
24creatinine458.5CTSG, SERPINA1, SERPINA3, SERPINC1
25cholesterol45 29 11 2411.5CMA1, SERPINA1, SERPINA3, SERPINF2
26cysteine458.4SERPINA3, SERPINA1, CMA1, CTSG
27lysine458.2CTSG, SERPINA1, SERPINF2
28lipid458.1SERPINF2, SERPINA3, SERPINA1, CTSG
29polysaccharide458.0CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
30fibrinogen458.0SERPINF2, SERPINC1, SERPINA3, SERPINA1, CTSG

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-1-Antichymotrypsin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet