MCID: ALP044
MIFTS: 28

Alpha-1-Antichymotrypsin Deficiency malady

Liver diseases, Respiratory diseases, Rare diseases categories

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Sources:
66Wikipedia, 34MalaCards
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Wikipedia:66 Alpha 1-antichymotrypsin (?1AC) is an alpha globulin glycoprotein that is a member of the serpin... more...

MalaCards: Alpha-1-Antichymotrypsin Deficiency, also known as antichymotrypsin deficiency-alpha-1, is related to emphysema due to aat deficiency and bronchiectasis. An important gene associated with Alpha-1-Antichymotrypsin Deficiency is SERPINA3 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3). The compounds diisopropylfluorophosphate and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include liver.

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

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Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

alpha-1-antichymotrypsin deficiency 48 50
antichymotrypsin deficiency-alpha-1 63


External Ids:

ICD10 via Orphanet27 E88.0
SNOMED-CT via Orphanet60 235909002
UMLS via Orphanet64 C0400965

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of diseases related to Alpha-1-Antichymotrypsin Deficiency:



Diseases related to alpha-1-antichymotrypsin deficiency

Symptoms for Alpha-1-Antichymotrypsin Deficiency

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Drugs & Therapeutics for Alpha-1-Antichymotrypsin Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
34MalaCards
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MalaCards organs/tissues related to Alpha-1-Antichymotrypsin Deficiency:

34
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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Sources:
53PubMed
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Articles related to Alpha-1-Antichymotrypsin Deficiency:

idTitleAuthorsYear
1
Role of alpha-1-antichymotrypsin deficiency in promoting cirrhosis in two siblings with heterozygous alpha-1-antitrypsin deficiency phenotype SZ. (11950825)
2002

Variations for Alpha-1-Antichymotrypsin Deficiency

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Expression for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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Sources:
2BioGPS, 16Gene 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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Compounds for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate469.6SERPINA3, SERPINA1
2vitamin a46 25 1211.6SERPINA3, SERPINA1
3polyacrylamide469.6SERPINA3, SERPINA1
4methionine469.6SERPINA1, SERPINA3
5polysaccharide469.6SERPINA3, SERPINA1
6fibrinogen469.5SERPINA3, SERPINA1
7paraffin469.5SERPINA3, SERPINA1
8nadph46 2510.5SERPINA1, SERPINA3
9iron46 2510.4SERPINA3, SERPINA1
10creatinine469.4SERPINA3, SERPINA1
11heparin46 30 25 1212.3SERPINA1, SERPINA3
12oligonucleotide469.3SERPINA3, SERPINA1
13progesterone46 30 62 25 1213.2SERPINA3, SERPINA1
14cholesterol46 30 25 1212.0SERPINA3, SERPINA1

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

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Sources:
17Gene Ontology
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Biological processes related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.3SERPINA3, SERPINA1
2acute-phase responseGO:0069539.2SERPINA3, SERPINA1
3regulation of proteolysisGO:0301629.0SERPINA3, SERPINA1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.3SERPINA3, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet