MCID: EMP007
MIFTS: 30

Emphysema Due to Aat Deficiency malady

Respiratory diseases, Liver diseases, Nephrological diseases, Rare diseases categories

Summaries for Emphysema Due to Aat Deficiency

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Sources:
22Genetics Home Reference, 35MedlinePlus, 48OMIM, 34MalaCards
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MedlinePlus:35 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: Emphysema Due to Aat Deficiency, also known as pathological accumulation of air in tissues, is related to liver disease and panniculitis, and has symptoms including nephrotic syndrome, hepatomegaly/liver enlargement (excluding storage disease) and hepatitis/icterus/cholestasis. 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 liver, testes and lung.

Genetics Home Reference:22 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.

Description from OMIM:48 613490

Aliases & Classifications for Emphysema Due to Aat Deficiency

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63UMLS, 35MedlinePlus, 48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
alpha-1-antitrypsin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

emphysema due to aat deficiency 48
pathological accumulation of air in tissues 63
alpha 1-antitrypsin deficiency 63
alpha-1-antitrypsin deficiency 50
alpha-1 antitrypsin deficiency 35


External Ids:

OMIM48 613490
MESH via Orphanet37 C531610, D019896
ICD10 via Orphanet27 E88.0
SNOMED-CT via Orphanet60 30188007
UMLS via Orphanet64 C0221757
ICD1026 J43, J43.9

Related Diseases for Emphysema Due to Aat Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

Symptoms:

50
  • nephrotic syndrome
  • hepatomegaly/liver enlargement (excluding storage disease)
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance
  • emphysema
  • hepatocellular liver disease/hepatic failure

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Emphysema Due to Aat Deficiency

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Anatomical Context for Emphysema Due to Aat Deficiency

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34MalaCards
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MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

34
Liver, Testes, Lung, Heart

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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.552delC (p.Tyr184Terfs)deletionPathogenic, other/card/emphysema_due_to_aat_deficiencyGRCh37Chr 14, 94849023: 94849023

Expression for genes affiliated with Emphysema Due to Aat Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Emphysema Due to Aat Deficiency

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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

Sources for Emphysema Due to Aat Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet