Emphysema Due to Aat Deficiency malady
Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Rare diseases categories
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 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.
Genetics Home Reference:22 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:46 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...
Emphysema Due to Aat Deficiency, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare diseases
Anatomical: Respiratory diseases, Liver diseases, Nephrological diseases
ICD10: 27 26
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable
Symptoms by clinical synopsis from OMIM:613490
Clinical features from OMIM:613490
HPO human phenotypes related to Emphysema Due to Aat Deficiency:(show all 9)
MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:32
Liver, Lung, Testes, Heart
Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:7
Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet