MCID: ALP044
MIFTS: 24

Alpha-1-Antichymotrypsin Deficiency malady

Categories: Liver diseases, Respiratory diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Alpha-1-Antichymotrypsin Deficiency:

Name: Alpha-1-Antichymotrypsin Deficiency 51
 
Antichymotrypsin Deficiency-Alpha-1 65

Characteristics:

Orphanet epidemiological data:

51
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 93594
ICD10 via Orphanet28 E88.0
UMLS via Orphanet66 C0400965
UMLS65 C0400965

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:68 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 mast cell neoplasm and epithelioid sarcoma. An important gene associated with Alpha-1-Antichymotrypsin Deficiency is SERPINA3 (Serpin Family A Member 3), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Matrix Metalloproteinases. Affiliated tissues include liver and breast.

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

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Graphical network of the top 20 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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Liver, Breast

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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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
1protein processingGO:00164859.8CMA1, CTSG
2extracellular matrix disassemblyGO:00226179.4CMA1, CTSG
3blood coagulationGO:00075969.3SERPINA1, SERPINF2
4immune responseGO:00069559.1CMA1, CTSG
5acute-phase responseGO:00069539.0SERPINA1, SERPINA3, SERPINF2
6negative regulation of endopeptidase activityGO:00109518.6SERPINA1, SERPINA3, SERPINF2

Sources for Alpha-1-Antichymotrypsin Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet