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:
48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Alpha-1-Antichymotrypsin Deficiency:

Name: Alpha-1-Antichymotrypsin Deficiency 48
 
Antichymotrypsin Deficiency-Alpha-1 61


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet48 93594
ICD10 via Orphanet26 E88.0
UMLS via Orphanet62 C0400965

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, 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:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 60Tocris Bioscience
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Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate449.5SERPINA3, SERPINA1
2vitamin a44 24 1111.5SERPINA3, SERPINA1
3polyacrylamide449.4SERPINA3, SERPINA1
4methionine449.4SERPINA3, SERPINA1
5polysaccharide449.4SERPINA1, SERPINA3
6fibrinogen449.4SERPINA3, SERPINA1
7paraffin449.4SERPINA3, SERPINA1
8nadph44 2410.4SERPINA1, SERPINA3
9iron44 2410.4SERPINA3, SERPINA1
10creatinine449.4SERPINA1, SERPINA3
11heparin44 28 24 1112.3SERPINA3, SERPINA1
12progesterone44 28 60 24 1113.3SERPINA3, SERPINA1
13cholesterol44 28 24 1112.3SERPINA1, SERPINA3
14oligonucleotide449.2SERPINA3, SERPINA1
15oxygen44 2410.2SERPINA1, SERPINA3
16estrogen449.1SERPINA3, SERPINA1
17lipid449.1SERPINA3, SERPINA1
18cysteine449.0SERPINA3, SERPINA1
19glucose448.8SERPINA3, 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

Sources for Alpha-1-Antichymotrypsin Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet