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:
52Orphanet, 12diseasecard, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Alpha-1-Antichymotrypsin Deficiency:

Name: Alpha-1-Antichymotrypsin Deficiency 52
 
Alpha-1-Antichymotrypsin 12

Characteristics:

Orphanet epidemiological data:

52
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet52 ORPHA93594
ICD10 via Orphanet29 E88.0
UMLS via Orphanet67 C0400965

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:69 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 alpha-1-antichymotrypsin, is related to conjunctivitis and vaginal yolk sac tumor. An important gene associated with Alpha-1-Antichymotrypsin Deficiency is SERPINA3 (Serpin Family A Member 3), and among its related pathways are Matrix Metalloproteinases and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Affiliated tissues include liver.

Related Diseases for Alpha-1-Antichymotrypsin Deficiency

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Diseases related to Alpha-1-Antichymotrypsin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1conjunctivitis10.3SERPINA1, SERPINA3
2vaginal yolk sac tumor10.3SERPINA1, SERPINA3
3pulmonary disease, chronic obstructive10.2SERPINA1, SERPINA3
4generalized atherosclerosis10.2SERPINA1, SERPINA3
5pustulosis of palm and sole10.2SERPINA1, SERPINA3
6pediatric meningioma10.2SERPINA1, SERPINA3
7chronic closed-angle glaucoma10.2SERPINA1, SERPINA3
8prostatitis10.2
9posterolateral myocardial infarction10.1SERPINA1, SERPINC1
10central nervous system adult germ cell tumor10.1SERPINA1, SERPINA3
11localized osteosarcoma10.1SERPINA1, SERPINA3
12ariboflavinosis10.1SERPINC1, SERPINF2
13cavernous hemangioma of face10.1SERPINC1, SERPINF2
14milk allergy10.1SERPINC1, SERPINF2
15pulmonary sarcoidosis10.1SERPINA1, SERPINA3
16dmd-related dilated cardiomyopathy10.1SERPINC1, SERPINF2
17chronic diarrhea due to guanylate cyclase 2c overactivity10.0SERPINC1, SERPINF2
18lymphatic system cancer10.0SERPINC1, SERPINF2
19functional colonic disease10.0SERPINC1, SERPINF2
20lujo hemorrhagic fever10.0SERPINC1, SERPINF2
21hyperlipidemia type 310.0
22prostate cancer10.0
23dementia10.0
24fiedler's myocarditis9.9SERPINC1, SERPINF2
25diffuse cutaneous mastocytosis9.9CMA1, CTSG
26penile disease9.9SERPINA1, SERPINF2
27lymphoblastic lymphoma9.9SERPINA1, SERPINA3
28cerebritis9.9
29cerebrovascular disease9.9
30pericoronitis9.9CMA1, SERPINA1, SERPINA3
31thrombophilia due to activated protein c resistance9.8SERPINC1, SERPINF2
32ulcerative blepharitis9.8SERPINC1, SERPINF2
33schizophrenia9.7
34lung cancer9.7
35multiple system atrophy9.7
36leprosy9.7
37alzheimer disease9.7
38cerebral amyloid angiopathy9.7
39inclusion body myositis9.7
40cerebral hemorrhage9.7
41gastric cancer9.7
42intracranial aneurysm9.7
43down syndrome9.7
44adenocarcinoma9.7
45glioblastoma multiforme9.7
46papillary carcinoma9.7
47myositis9.7
48thyroiditis9.7
49vascular dementia9.7
50glioblastoma9.7

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:

34
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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GO Terms for genes affiliated with Alpha-1-Antichymotrypsin Deficiency

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Cellular components related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.6SERPINA1, SERPINA3, SERPINF2
2blood microparticleGO:00725629.2SERPINA3, SERPINC1, SERPINF2
3extracellular exosomeGO:00700627.6CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
4extracellular spaceGO:00056157.3CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
5extracellular regionGO:00055767.0CMA1, CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2

Biological processes related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein processingGO:00164859.3CMA1, CTSG
2angiotensin maturationGO:00020039.3CMA1, CTSG
3extracellular matrix disassemblyGO:00226179.2CMA1, CTSG
4acute-phase responseGO:00069539.1SERPINA1, SERPINA3, SERPINF2
5platelet degranulationGO:00025768.9SERPINA1, SERPINA3, SERPINF2
6negative regulation of endopeptidase activityGO:00109518.6SERPINA1, SERPINA3, SERPINC1, SERPINF2

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020208.8SERPINA1, SERPINC1, SERPINF2
2serine-type endopeptidase inhibitor activityGO:00048678.3SERPINA1, SERPINA3, SERPINC1, SERPINF2

Sources for Alpha-1-Antichymotrypsin Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet