MCID: EMP007
MIFTS: 23

Emphysema Due to Aat Deficiency malady

Respiratory, Liver, Nephrological, Metabolic categories

Summaries for Emphysema Due to Aat Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Emphysema Due to Aat Deficiency, also known as pathological accumulation of air in tissues, is related to alpha 1-antitrypsin deficiency and bronchiectasis, and has symptoms including hepatocellular liver disease/hepatic failure, emphysema and autosomal recessive inheritance. 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.

Description from OMIM:47 613490

Aliases & Classifications for Emphysema Due to Aat Deficiency

Sources:
61UMLS, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Respiratory, Liver, Nephrological, Metabolic


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 61
alpha 1-antitrypsin deficiency 61
alpha-1-antitrypsin deficiency 49


External Ids:

OMIM47 613490
MESH via Orphanet36 C531610, D019896
ICD10 via Orphanet26 E88.0
SNOMED-CT via Orphanet58 30188007
UMLS via Orphanet62 C0221757
ICD1025 J43, J43.9

Related Diseases for Emphysema Due to Aat Deficiency

Sources:
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

Clinical Features for Emphysema Due to Aat Deficiency

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

613490

Clinical synopsis from OMIM:

613490

Symptoms:

49 (show all 6)
  • hepatocellular liver disease/hepatic failure
  • emphysema
  • autosomal recessive inheritance
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • nephrotic syndrome

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Emphysema Due to Aat Deficiency

Drug clinical trials:

Search ClinicalTrials for Emphysema Due to Aat Deficiency

Search NIH Clinical Center for Emphysema Due to Aat Deficiency

Search CenterWatch for Emphysema Due to Aat Deficiency

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Emphysema Due to Aat Deficiency

Anatomical Context for Emphysema Due to Aat Deficiency

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

33
Liver

Animal Models for Emphysema Due to Aat Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Emphysema Due to Aat Deficiency

Genetic Variations for Emphysema Due to Aat Deficiency

Expression for genes affiliated with Emphysema Due to Aat Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Emphysema Due to Aat Deficiency

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

Pathways for genes affiliated with Emphysema Due to Aat Deficiency

Compounds for genes affiliated with Emphysema Due to Aat Deficiency

GO Terms for genes affiliated with Emphysema Due to Aat Deficiency

Products for genes affiliated with Emphysema Due to Aat Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Emphysema Due to Aat Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet