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:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Alpha-1-Antichymotrypsin Deficiency:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 93594
ICD10 via Orphanet28 E88.0
UMLS via Orphanet66 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 cheek mucosa cancer and bladder squamous papilloma. An important gene associated with Alpha-1-Antichymotrypsin Deficiency is SERPINA3 (Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), 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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1cheek mucosa cancer10.1SERPINA1, SERPINA3
2bladder squamous papilloma10.1SERPINA1, SERPINA3
3plasmacytoma10.1SERPINA1, SERPINA3
4hypercementosis10.1SERPINA1, SERPINA3
5myocardial stunning10.1SERPINA1, SERPINA3
6granulomatous dermatitis10.1SERPINA1, SERPINA3
7vulvar granular cell tumor10.1SERPINA1, SERPINA3
8malignant gastric germ cell tumor10.1SERPINA1, SERPINA3
9breast angiosarcoma10.1SERPINA1, SERPINC1
10testis sarcoma10.1SERPINA1, SERPINA3
11lacrimal gland mucoepidermoid carcinoma10.1SERPINA1, SERPINA3
12irritable bowel syndrome10.1SERPINC1, SERPINF2
13cervical alveolar soft part sarcoma10.0SERPINC1, SERPINF2
14nephropathia epidemica10.0SERPINC1, SERPINF2
15congenital chloride diarrhea10.0SERPINC1, SERPINF2
16lambert-eaton myasthenic syndrome10.0SERPINC1, SERPINF2
17cavernous sinus thrombosis10.0SERPINC1, SERPINF2
18thymic carcinoma10.0SERPINC1, SERPINF2
19acute graft versus host disease10.0CTSG, SERPINA3
20euthyroid sick syndrome10.0SERPINA1, SERPINF2
21occlusion precerebral artery10.0SERPINA1, SERPINA3
22chronic fatigue syndrome10.0SERPINC1, SERPINF2
23cutaneous t cell lymphoma10.0CMA1, CTSG
24thrombophilia due to activated protein c resistance10.0SERPINC1, SERPINF2
25stickler syndrome col2a110.0SERPINC1, SERPINF2
26pulmonary eosinophilia10.0SERPINC1, SERPINF2
27wheat allergic reaction10.0CMA1, SERPINA1, SERPINA3
28mastitis10.0CMA1, CTSG
29dissociative disorder9.9SERPINC1, SERPINF2
30amelogenesis imperfecta9.9SERPINA1, SERPINA3, SERPINC1
31galactosemia9.9SERPINA1, SERPINC1
32cole carpenter syndrome9.9CMA1, SERPINC1, SERPINF2
33vein disease9.9CTSG, SERPINA1
34adult acute lymphocytic leukemia9.8SERPINC1, SERPINF2
35liver disease9.8SERPINA1, SERPINC1, SERPINF2
36wegener granulomatosis9.8CTSG, SERPINA1
37spontaneous ocular nystagmus9.8CTSG, SERPINA1, SERPINA3
38littre gland carcinoma9.7CTSG, SERPINA1
39atypical hemolytic-uremic syndrome with h factor anomaly9.2CMA1, CTSG, SERPINA1, SERPINA3, SERPINC1, 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:

33
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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Pathways related to Alpha-1-Antichymotrypsin Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2CMA1, CTSG
2
Show member pathways
9.2CMA1, CTSG
3
Show member pathways
8.8SERPINA1, SERPINC1, SERPINF2

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:00310939.9SERPINA1, SERPINF2
2blood microparticleGO:00725629.5SERPINA3, SERPINC1, SERPINF2
3extracellular exosomeGO:00700627.6CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
4extracellular regionGO:00055767.0CMA1, CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2
5extracellular spaceGO:00056156.8CMA1, CTSG, SERPINA1, SERPINA3, SERPINC1, SERPINF2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:00025769.8SERPINA1, SERPINF2
2protein processingGO:00164859.5CMA1, CTSG
3angiotensin maturationGO:00020039.5CMA1, CTSG
4extracellular matrix disassemblyGO:00226179.4CMA1, CTSG
5acute-phase responseGO:00069539.4SERPINA1, SERPINA3, SERPINF2
6blood coagulationGO:00075968.8SERPINA1, SERPINC1, SERPINF2
7negative regulation of endopeptidase activityGO:00109518.7SERPINA1, 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:00048678.4SERPINA1, SERPINA3, SERPINC1, 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