MCID: EMP007
MIFTS: 50

Emphysema Due to Aat Deficiency malady

Genetic diseases, Rare diseases, Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Blood diseases categories

Summaries for Emphysema Due to Aat Deficiency

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MedlinePlus:32 Alpha-1 antitrypsin deficiency (aat deficiency) is an inherited condition that raises your risk for lung and liver disease. alpha-1 antitrypsin (aat) is a protein that protects the lungs. the liver makes it. if the aat proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. symptoms of aat deficiency include shortness of breath and wheezing repeated lung infections tiredness rapid heartbeat upon standing vision problems weight loss some people have no symptoms and do not develop complications. blood tests and genetic tests can tell if you have it. if your lungs are affected, you may also have lung tests. treatments include medicines, pulmonary rehab, and extra oxygen, if needed. severe cases may need a lung transplant. not smoking can prevent or delay lung symptoms. nih: national heart, lung, and blood institute

MalaCards based summary: Emphysema Due to Aat Deficiency, also known as alpha 1-antitrypsin deficiency, is related to liver disease and bronchiectasis, and has symptoms including hepatic failure, emphysema and hepatomegaly. An important gene associated with Emphysema Due to Aat Deficiency is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1). The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and lung.

Disease Ontology:9 A plasma protein metabolism disease that has material basis in defective production of the protease inhibitor alpha 1-antitrypsin (a1at), leading to decreased a1at activity in the blood and lungs, and deposition of excessive abnormal a1at protein in liver cells.

NIH Rare Diseases:41 Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. alpha-1 antitrypsin (aat) is a protein that protects the lungs. the liver usually makes the protein, and releases it into the bloodstream. because of a mutation in the serpina1 gene, some people have little or no aat. not having enough aat may lead to emphysema or liver problems. smoking increases the risk. a deficiency of aat can be treated but not cured. one treatment involves adding to or replacing the missing protein. more severe cases may require a lung transplant. this condition is caused by mutations in the serpina1 gene and inherited in an autosomal co-dominant fashion. last updated: 7/26/2011

Genetics Home Reference:21 Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.

OMIM:45 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...

GeneReviews summary for alpha1-a

Aliases & Classifications for Emphysema Due to Aat Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 30LifeMap Discovery®, 9Disease Ontology, 63Wikipedia, 11DISEASES, 43Novoseek, 60UMLS, 19GeneReviews, 21Genetics Home Reference, 32MedlinePlus, 22GTR, 20GeneTests, 55SNOMED-CT, 27ICD9CM, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Emphysema Due to Aat Deficiency, Aliases & Descriptions:

Name: Emphysema Due to Aat Deficiency 45 10
Alpha 1-Antitrypsin Deficiency 30 9 63 41 11 43 60
Alpha-1-Antitrypsin Deficiency 45 41 47
Alpha-1 Antitrypsin Deficiency 19 21 32
Aat Deficiency 9 19 41
Aatd 19 41 21
Alpha 1 Antitrypsin Deficiency 41 22
Hereditary Pulmonary Emphysema 63 21
Alpha-1 Related Emphysema 63 21
Inherited Emphysema 63 21
Genetic Emphysema 63 21
 
A1at Deficiency 19 41
Aat 63 21
Hemorrhagic Diathesis Due to \'antithrombin\' Pittsburgh 45
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive 60
Emphysema-Cirrhosis, Due to Aat Deficiency 45
Alpha-1 Protease Inhibitor Deficiency 21
Emphysema, Hereditary Pulmonary 60
Alpha1-Antitrypsin Deficiency 20
Alpha-1 Proteinase Inhibitor 63
Alpha-1-Antitrypsin 10


Classifications:



Characteristics (Orphanet epidemiological data):

47
alpha-1-antitrypsin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages


External Ids:

OMIM45 613490
Disease Ontology9 DOID:13372
ICD9CM27 273.4
NCIt38 C84397
SNOMED-CT55 154771007, 30188007
Orphanet47 60
MESH via Orphanet34 C531610, D019896
ICD10 via Orphanet26 E88.0
UMLS via Orphanet61 C0221757
ICD1025 J43, J43.9

Related Diseases for Emphysema Due to Aat Deficiency

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Graphical network of the top 20 diseases related to Emphysema Due to Aat Deficiency:



Diseases related to emphysema due to aat deficiency

Symptoms for Emphysema Due to Aat Deficiency

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Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

Symptoms:

 47
  • hepatocellular liver disease/hepatic failure
  • emphysema
  • autosomal recessive inheritance
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • nephrotic syndrome

HPO human phenotypes related to Emphysema Due to Aat Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 hepatic failure hallmark (90%) HP:0001399
2 emphysema hallmark (90%) HP:0002097
3 hepatomegaly typical (50%) HP:0002240
4 nephrotic syndrome occasional (7.5%) HP:0000100
5 cirrhosis rare (5%) HP:0001394
6 emphysema HP:0002097
7 chronic bronchitis HP:0004469
8 chronic obstructive pulmonary disease HP:0006510
9 autosomal recessive inheritance HP:0000007
10 hepatocellular carcinoma HP:0001402
11 elevated hepatic transaminases HP:0002910

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

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Drug clinical trials:

Search ClinicalTrials for Emphysema Due to Aat Deficiency

Search NIH Clinical Center for Emphysema Due to Aat Deficiency

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Emphysema Due to Aat Deficiency

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Genetic tests related to Emphysema Due to Aat Deficiency:

id Genetic test Affiliating Genes
1 Alpha1-Antitrypsin Deficiency20 SERPINA1
2 Alpha-1-Antitrypsin Deficiency22

Anatomical Context for Emphysema Due to Aat Deficiency

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MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

31
Skeletal muscle, Liver, Lung, Testes, Heart, Adipocyte, Myeloid, Monocytes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Emphysema Due to Aat Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Emphysema Due to Aat Deficiency or affiliated genes

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Publications for Emphysema Due to Aat Deficiency

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Variations for Emphysema Due to Aat Deficiency

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Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenicGRCh37Chr 14, 94849023: 94849023

Expression for genes affiliated with Emphysema Due to Aat Deficiency

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Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.

Pathways for genes affiliated with Emphysema Due to Aat Deficiency

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Compounds for genes affiliated with Emphysema Due to Aat Deficiency

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GO Terms for genes affiliated with Emphysema Due to Aat Deficiency

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Products for genes affiliated with Emphysema Due to Aat Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Emphysema Due to Aat Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet