MCID: ALP044
MIFTS: 22

Alpha-1-Antichymotrypsin Deficiency malady

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

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

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Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Alpha-1-Antichymotrypsin Deficiency, Aliases & Descriptions:

Name: Alpha-1-Antichymotrypsin Deficiency 47
 
Antichymotrypsin Deficiency-Alpha-1 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Orphanet47 93594
ICD10 via Orphanet26 E88.0
UMLS via Orphanet61 C0400965

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:63 Alpha 1-antichymotrypsin (?1AC) is an alpha globulin glycoprotein that is a member of the serpin... more...

MalaCards based summary: Alpha-1-Antichymotrypsin Deficiency, also known as antichymotrypsin deficiency-alpha-1, is related to liver disease and emphysema due to aat deficiency. 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.

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:

31
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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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:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate439.5SERPINA3, SERPINA1
2vitamin a43 24 1211.5SERPINA3, SERPINA1
3polyacrylamide439.4SERPINA3, SERPINA1
4methionine439.4SERPINA3, SERPINA1
5polysaccharide439.4SERPINA1, SERPINA3
6fibrinogen439.4SERPINA3, SERPINA1
7paraffin439.4SERPINA3, SERPINA1
8nadph43 2410.4SERPINA1, SERPINA3
9iron43 2410.4SERPINA3, SERPINA1
10creatinine439.4SERPINA1, SERPINA3
11heparin43 28 24 1212.3SERPINA3, SERPINA1
12progesterone43 28 59 24 1213.3SERPINA3, SERPINA1
13cholesterol43 28 24 1212.3SERPINA1, SERPINA3
14oligonucleotide439.2SERPINA3, SERPINA1
15oxygen43 2410.2SERPINA1, SERPINA3
16estrogen439.1SERPINA3, SERPINA1
17lipid439.1SERPINA3, SERPINA1
18cysteine439.0SERPINA3, SERPINA1
19glucose438.8SERPINA3, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:00109519.1SERPINA3, SERPINA1
2acute-phase responseGO:00069539.0SERPINA3, SERPINA1
3regulation of proteolysisGO:00301628.8SERPINA3, SERPINA1

Molecular functions related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.1SERPINA3, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet