MCID: ALP044
MIFTS: 25

Alpha-1-Antichymotrypsin Deficiency malady

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

Summaries for Alpha-1-Antichymotrypsin Deficiency

About this section


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 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.

Aliases & Classifications for Alpha-1-Antichymotrypsin Deficiency

About this section
Sources:
49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Alpha-1-Antichymotrypsin Deficiency, Aliases & Descriptions:

Name: Alpha-1-Antichymotrypsin Deficiency 49 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

Orphanet49 93594
ICD10 via Orphanet28 E88.0
UMLS via Orphanet63 C0400965

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

About this section

Graphical network of diseases related to Alpha-1-Antichymotrypsin Deficiency:



Diseases related to alpha-1-antichymotrypsin deficiency

Symptoms for Alpha-1-Antichymotrypsin Deficiency

About this section

Drugs & Therapeutics for Alpha-1-Antichymotrypsin Deficiency

About this section

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

About this section

Anatomical Context for Alpha-1-Antichymotrypsin Deficiency

About this section

MalaCards organs/tissues related to Alpha-1-Antichymotrypsin Deficiency:

33
Liver

Animal Models for Alpha-1-Antichymotrypsin Deficiency or affiliated genes

About this section

Publications for Alpha-1-Antichymotrypsin Deficiency

About this section

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

About this section

Expression for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

About this section

Search GEO for disease gene expression data for Alpha-1-Antichymotrypsin Deficiency.

Pathways for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

About this section

Compounds for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

About this section
Sources:
45Novoseek, 26HMDB, 13DrugBank, 30IUPHAR, 61Tocris Bioscience
See all sources

Compounds related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1diisopropylfluorophosphate459.5SERPINA3, SERPINA1
2vitamin a45 26 1311.5SERPINA3, SERPINA1
3polyacrylamide459.4SERPINA3, SERPINA1
4methionine459.4SERPINA3, SERPINA1
5polysaccharide459.4SERPINA1, SERPINA3
6fibrinogen459.4SERPINA3, SERPINA1
7paraffin459.4SERPINA3, SERPINA1
8nadph45 2610.4SERPINA1, SERPINA3
9iron45 2610.4SERPINA3, SERPINA1
10creatinine459.4SERPINA1, SERPINA3
11heparin45 30 26 1312.3SERPINA3, SERPINA1
12progesterone45 30 61 26 1313.3SERPINA3, SERPINA1
13cholesterol45 30 26 1312.3SERPINA1, SERPINA3
14oligonucleotide459.2SERPINA3, SERPINA1
15oxygen45 2610.2SERPINA1, SERPINA3
16estrogen459.1SERPINA3, SERPINA1
17lipid459.1SERPINA3, SERPINA1
18cysteine459.0SERPINA3, SERPINA1
19glucose458.8SERPINA3, SERPINA1

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

About this section

Biological processes related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards/GeneDecks:

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.1SERPINA3, SERPINA1

Products for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alpha-1-Antichymotrypsin Deficiency

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet