MCID: EMP007
MIFTS: 30

Emphysema Due to Aat Deficiency malady

Respiratory diseases, Liver diseases, Nephrological diseases, Rare diseases categories
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Summaries for Emphysema Due to Aat Deficiency

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Sources:
21Genetics Home Reference, 34MedlinePlus, 47OMIM, 33MalaCards
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MedlinePlus:34 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: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.

Description from OMIM:47 613490

Aliases & Classifications for Emphysema Due to Aat Deficiency

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62UMLS, 34MedlinePlus, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
alpha-1-antitrypsin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

emphysema due to aat deficiency 47
pathological accumulation of air in tissues 62
alpha 1-antitrypsin deficiency 62
alpha-1-antitrypsin deficiency 49
alpha-1 antitrypsin deficiency 34


External Ids:

OMIM47 613490
MESH via Orphanet36 C531610, D019896
ICD10 via Orphanet26 E88.0
SNOMED-CT via Orphanet59 30188007
UMLS via Orphanet63 C0221757
ICD1025 J43, J43.9

Related Diseases for Emphysema Due to Aat Deficiency

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

613490

Clinical features from OMIM:

613490

Symptoms:

49
  • 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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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 UMLS62/NDF-RT41:

Genetic Tests for Emphysema Due to Aat Deficiency

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Anatomical Context for Emphysema Due to Aat Deficiency

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33MalaCards
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MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet