MCID: EMP007
MIFTS: 31

Emphysema Due to Aat Deficiency malady

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

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MedlinePlus:33 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 pneumothorax, 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, lung and testes.

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:46 613490

Aliases & Classifications for Emphysema Due to Aat Deficiency

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Sources:
46OMIM, 48Orphanet, 33MedlinePlus, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Emphysema Due to Aat Deficiency, Aliases & Descriptions:

Name: Emphysema Due to Aat Deficiency 46
Alpha-1 Antitrypsin Deficiency 33
 
Alpha-1-Antitrypsin Deficiency 48
Alpha 1-Antitrypsin Deficiency 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 613490
MESH via Orphanet35 C531610, D019896
ICD10 via Orphanet26 E88.0
UMLS via Orphanet63 C0221757
ICD1025 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:

613490

Clinical features 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

HPO human phenotypes related to Emphysema Due to Aat Deficiency:

(show all 9)
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 autosomal recessive inheritance HP:0000007
7 hepatocellular carcinoma HP:0001402
8 elevated hepatic transaminases HP:0002910
9 chronic obstructive pulmonary disease HP:0006510

Drugs & Therapeutics for Emphysema Due to Aat Deficiency

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Drug clinical trials:

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Inferred drug relations via UMLS62/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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MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:

32
Liver, Lung, Testes, 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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Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:

6
id Gene Name 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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet