MCID: ALP044
MIFTS: 27

Alpha-1-Antichymotrypsin Deficiency malady

Liver diseases, Respiratory diseases, Metabolic diseases, Rare diseases categories
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Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:65 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, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Alpha-1-Antichymotrypsin Deficiency, Aliases & Descriptions:

Name: Alpha-1-Antichymotrypsin Deficiency 46 48 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 E88.0
UMLS via Orphanet63 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, 24HMDB, 11DrugBank, 28IUPHAR, 61Tocris 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 24 1111.6SERPINA3, SERPINA1
3polyacrylamide449.6SERPINA3, SERPINA1
4methionine449.6SERPINA1, SERPINA3
5polysaccharide449.6SERPINA3, SERPINA1
6fibrinogen449.5SERPINA3, SERPINA1
7paraffin449.5SERPINA3, SERPINA1
8nadph44 2410.5SERPINA1, SERPINA3
9iron44 2410.4SERPINA3, SERPINA1
10creatinine449.4SERPINA3, SERPINA1
11heparin44 28 24 1112.3SERPINA1, SERPINA3
12oligonucleotide449.3SERPINA3, SERPINA1
13progesterone44 28 61 24 1113.2SERPINA3, SERPINA1
14cholesterol44 28 24 1112.0SERPINA3, 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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet