MCID: EMP007
MIFTS: 28

Emphysema Due to Aat Deficiency malady

Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Emphysema Due to Aat Deficiency

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46OMIM, 32MalaCards
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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 liver disease, 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:46 613490

Aliases & Classifications for Emphysema Due to Aat Deficiency

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Sources:
60UMLS, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
alpha-1-antitrypsin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

emphysema due to aat deficiency 46
pathological accumulation of air in tissues 60
alpha 1-antitrypsin deficiency 60
alpha-1-antitrypsin deficiency 48


External Ids:

OMIM46 613490
MESH via Orphanet35 C531610, D019896
ICD10 via Orphanet26 E88.0
SNOMED-CT via Orphanet57 30188007
UMLS via Orphanet61 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

Clinical Features for Emphysema Due to Aat Deficiency

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46OMIM, 48Orphanet
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Clinical features from OMIM:

613490

Clinical synopsis from OMIM:

613490

Symptoms:

48
  • 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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Emphysema Due to Aat Deficiency

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Anatomical Context for Emphysema Due to Aat Deficiency

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32MalaCards
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MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

32
Liver

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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Genetic Variations for Emphysema Due to Aat Deficiency

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Expression for genes affiliated with Emphysema Due to Aat Deficiency

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1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet