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: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 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 liver, lung and testes.

Disease Ontology:10 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:43 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:23 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:47 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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47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 32LifeMap Discovery®, 10Disease Ontology, 65Wikipedia, 12DISEASES, 45Novoseek, 62UMLS, 21GeneReviews, 23Genetics Home Reference, 34MedlinePlus, 24GTR, 22GeneTests, 57SNOMED-CT, 29ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
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Emphysema Due to Aat Deficiency, Aliases & Descriptions:

Name: Emphysema Due to Aat Deficiency 47 11
Alpha 1-Antitrypsin Deficiency 32 10 65 43 12 45 62
Alpha-1 Antitrypsin Deficiency 21 23 34
Alpha-1-Antitrypsin Deficiency 47 43 49
Aat Deficiency 10 21 43
Aatd 21 43 23
Alpha 1 Antitrypsin Deficiency 43 24
Hereditary Pulmonary Emphysema 65 23
Alpha-1 Related Emphysema 65 23
Inherited Emphysema 65 23
Genetic Emphysema 65 23
A1at Deficiency 21 43
Aat 65 23
Hemorrhagic Diathesis Due to \'antithrombin\' Pittsburgh 47
Emphysema-Cirrhosis, Due to Aat Deficiency 47
Alpha-1 Protease Inhibitor Deficiency 23
Alpha1-Antitrypsin Deficiency 22
Alpha-1 Proteinase Inhibitor 65
Alpha-1-Antitrypsin 11


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM47 613490
Disease Ontology10 DOID:13372
ICD9CM29 273.4
NCIt40 C84397
SNOMED-CT57 154771007, 30188007
Orphanet49 60
MESH via Orphanet36 C531610, D019896
ICD10 via Orphanet28 E88.0
UMLS via Orphanet63 C0221757
ICD1027 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:


Clinical features from OMIM:



  • 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:

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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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Genetic tests related to Emphysema Due to Aat Deficiency:

id Genetic test Affiliating Genes
1 Alpha1-Antitrypsin Deficiency22 SERPINA1
2 Alpha-1-Antitrypsin Deficiency24

Anatomical Context for Emphysema Due to Aat Deficiency

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

Liver, Lung, Testes, Heart

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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:

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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LifeMap Discovery
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 32 (show all 44)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1OGNosteoglycinSkeletal Muscle+2.160.000
2PERPPERP, TP53 apoptosis effectorSkeletal Muscle+2.160.000
3GADD45Agrowth arrest and DNA-damage-inducible, alphaSkeletal Muscle+2.160.000
4RGS2regulator of G-protein signaling 2, 24kDaSkeletal Muscle+2.150.000
5MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+2.130.000
6ZFP36L1ZFP36 ring finger protein-like 1Skeletal Muscle+2.130.000
7MESTmesoderm specific transcriptSkeletal Muscle+2.110.000
8RBP4retinol binding protein 4, plasmaSkeletal Muscle+2.110.000
9DCLK1doublecortin-like kinase 1Skeletal Muscle+2.060.000
10EFCAB7EF-hand calcium binding domain 7Skeletal Muscle+2.050.000
11MGST1microsomal glutathione S-transferase 1Skeletal Muscle+2.040.000
12PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+2.030.000
13ANXA1annexin A1Skeletal Muscle+2.030.000
14CD44CD44 molecule (Indian blood group)Skeletal Muscle+2.020.000
15SNX7sorting nexin 7Skeletal Muscle+2.020.000
16ASPNasporinSkeletal Muscle+2.010.000
17MMDmonocyte to macrophage differentiation-associatedSkeletal Muscle+2.010.000
18CFHcomplement factor HSkeletal Muscle+1.970.000
19COL5A2collagen, type V, alpha 2Skeletal Muscle+1.940.000
20MLLT11myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11Skeletal Muscle+1.930.000
21COL1A1collagen, type I, alpha 1Skeletal Muscle+1.910.000
22SOX4SRY (sex determining region Y)-box 4Skeletal Muscle+1.910.000
23CTGFconnective tissue growth factorSkeletal Muscle+1.900.000
24CHRNA1cholinergic receptor, nicotinic, alpha 1 (muscle)Skeletal Muscle+1.900.000
25OSBPL8oxysterol binding protein-like 8Skeletal Muscle+1.890.000
26CDKN1Acyclin-dependent kinase inhibitor 1A (p21, Cip1)Skeletal Muscle+1.880.000
27LUMlumicanSkeletal Muscle+1.880.000
28EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+1.870.000
29ANTXR1anthrax toxin receptor 1Skeletal Muscle+1.860.000
30ECM2extracellular matrix protein 2, female organ and adipocyte specificSkeletal Muscle+1.860.000
31PHLDB2pleckstrin homology-like domain, family B, member 2Skeletal Muscle+1.860.000
32FGL2fibrinogen-like 2Skeletal Muscle+1.840.000
33TUBB2Atubulin, beta 2A class IIaSkeletal Muscle+1.830.000
34EGR1early growth response 1Skeletal Muscle+1.820.000
35FSTfollistatinSkeletal Muscle+1.820.000
36COL21A1collagen, type XXI, alpha 1Skeletal Muscle+1.810.000
37ASPHaspartate beta-hydroxylaseSkeletal Muscle+1.810.000
38SFRP2secreted frizzled-related protein 2Skeletal Muscle+1.810.000
39CYP26B1cytochrome P450, family 26, subfamily B, polypeptide 1Skeletal Muscle+1.810.000
40MGPmatrix Gla proteinSkeletal Muscle+1.810.000
41ABI3BPABI family, member 3 (NESH) binding proteinSkeletal Muscle+1.790.000
42HMGB2high mobility group box 2Skeletal Muscle+1.790.000
43ABLIM1actin binding LIM protein 1Skeletal Muscle+1.780.000
44EDIL3EGF-like repeats and discoidin I-like domains 3Skeletal Muscle+1.780.000

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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28ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet