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:
12diseasecard, 30ICD10 via Orphanet, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Alpha-1-Antichymotrypsin Deficiency:

Name: Alpha-1-Antichymotrypsin Deficiency 53
Antichymotrypsin Deficiency-Alpha-1 67
 
Alpha-1-Antichymotrypsin 12

Characteristics:

Orphanet epidemiological data:

53
alpha-1-antichymotrypsin deficiency:
Inheritance: Autosomal dominant; Age of onset: Childhood

Classifications:



External Ids:

Orphanet53 ORPHA93594
ICD10 via Orphanet30 E88.0
UMLS via Orphanet68 C0400965

Summaries for Alpha-1-Antichymotrypsin Deficiency

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Wikipedia:70 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 hyperlipidemia type 3 and conjunctivitis. 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 54)
idRelated DiseaseScoreTop Affiliating Genes
1hyperlipidemia type 310.9
2conjunctivitis10.2SERPINA1, SERPINA3
3vaginal yolk sac tumor10.2SERPINA1, SERPINA3
4pulmonary disease, chronic obstructive10.2SERPINA1, SERPINA3
5generalized atherosclerosis10.1SERPINA1, SERPINA3
6pediatric meningioma10.1SERPINA1, SERPINA3
7chronic closed-angle glaucoma10.1SERPINA1, SERPINA3
8posterolateral myocardial infarction10.1SERPINA1, SERPINC1
9diffuse cutaneous mastocytosis10.1CMA1, CTSG
10central nervous system adult germ cell tumor10.1SERPINA1, SERPINA3
11localized osteosarcoma10.1SERPINA1, SERPINA3
12prostatitis10.0
13pulmonary sarcoidosis10.0SERPINA1, SERPINA3
14lymphoblastic lymphoma9.9SERPINA1, SERPINA3
15ariboflavinosis9.9SERPINC1, SERPINF2
16cavernous hemangioma of face9.9SERPINC1, SERPINF2
17milk allergy9.9SERPINC1, SERPINF2
18prostate cancer9.9
19dementia9.9
20dmd-related dilated cardiomyopathy9.9SERPINC1, SERPINF2
21pericoronitis9.8CMA1, SERPINA1, SERPINA3
22chronic diarrhea due to guanylate cyclase 2c overactivity9.8SERPINC1, SERPINF2
23lymphatic system cancer9.8SERPINC1, SERPINF2
24functional colonic disease9.8SERPINC1, SERPINF2
25lujo hemorrhagic fever9.8SERPINC1, SERPINF2
26cerebritis9.8
27fiedler's myocarditis9.8SERPINC1, SERPINF2
28penile disease9.7SERPINA1, SERPINF2
29lymphedema9.7SERPINA1, SERPINC1
30thrombophilia due to activated protein c resistance9.6SERPINC1, SERPINF2
31schizophrenia9.6
32lung cancer9.6
33multiple system atrophy9.6
34leprosy9.6
35alzheimer disease9.6
36cerebral amyloid angiopathy9.6
37inclusion body myositis9.6
38cerebral hemorrhage9.6
39gastric cancer9.6
40intracranial aneurysm9.6
41down syndrome9.6
42adenocarcinoma9.6
43glioblastoma multiforme9.6
44papillary carcinoma9.6
45myositis9.6
46thyroiditis9.6
47vascular dementia9.6
48glioblastoma9.6
49aneurysm9.6
50ulcerative blepharitis9.6SERPINC1, SERPINF2

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:

35
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:00310939.4SERPINA1, SERPINA3, SERPINF2
2blood microparticleGO:00725628.7SERPINA3, SERPINC1, SERPINF2
3extracellular spaceGO:00056157.6CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
4extracellular exosomeGO:00700627.6CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
5extracellular regionGO:00055767.3CMA1, 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:00164859.5CMA1, CTSG
2angiotensin maturationGO:00020039.4CMA1, CTSG
3extracellular matrix disassemblyGO:00226179.4CMA1, CTSG
4platelet degranulationGO:00025769.0SERPINA1, SERPINA3, SERPINF2
5acute-phase responseGO:00069538.9SERPINA1, SERPINA3, SERPINF2
6negative regulation of endopeptidase activityGO:00109518.4SERPINA1, SERPINA3, SERPINC1, SERPINF2

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020208.6SERPINA1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet