MCID: ALP044
MIFTS: 27

Alpha-1-Antichymotrypsin Deficiency malady

Liver diseases, Respiratory diseases, Metabolic diseases, Rare diseases categories

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:64 Alpha 1-antichymotrypsin (?1AC) is an alpha globulin glycoprotein that is a member of the serpin... more...

MalaCards based summary: Alpha-1-Antichymotrypsin Deficiency 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:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Alpha-1-Antichymotrypsin Deficiency, Aliases & Descriptions:

Name: Alpha-1-Antichymotrypsin Deficiency 46 48 61


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet27 E88.0
UMLS via Orphanet62 C0400965

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

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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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Drug clinical trials:

Search ClinicalTrials for Alpha-1-Antichymotrypsin Deficiency

Search NIH Clinical Center 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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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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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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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:
44Novoseek, 25HMDB, 12DrugBank, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate449.6SERPINA3, SERPINA1
2vitamin a44 25 1211.6SERPINA3, SERPINA1
3polyacrylamide449.6SERPINA3, SERPINA1
4methionine449.6SERPINA1, SERPINA3
5polysaccharide449.6SERPINA3, SERPINA1
6fibrinogen449.5SERPINA3, SERPINA1
7paraffin449.5SERPINA3, SERPINA1
8nadph44 2510.5SERPINA1, SERPINA3
9iron44 2510.4SERPINA3, SERPINA1
10creatinine449.4SERPINA3, SERPINA1
11heparin44 29 25 1212.3SERPINA1, SERPINA3
12oligonucleotide449.3SERPINA3, SERPINA1
13progesterone44 29 60 25 1213.2SERPINA3, SERPINA1
14cholesterol44 29 25 1212.0SERPINA3, SERPINA1

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

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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
  • Proteins
  • Kits and Assays

Sources for Alpha-1-Antichymotrypsin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet