alpha-1-Proteinase inhibitor deficiency

disorder

SNOMED 30188007CUI C0221757

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Alpha-1-protease inhibitor

substance

Research Evidence

Peer-reviewed studies linked via MeSH term "alpha 1-Antitrypsin Deficiency" from the MEDLINE/PubMed database.

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Alpha-1 antitrypsin deficiency and granulomatosis with polyangiitis: a systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Eur Respir Rev · 2025

PMID: 41125409Meta-AnalysisFull text (PMC)

Patient-reported outcome measures for use in patients with alpha-1-antitrypsin deficiency: results of a systematic selection process.

[object Object], [object Object], [object Object] et al. · BMJ Open Respir Res · 2025

PMID: 41314659Meta-AnalysisFull text (PMC)

Applications of Artificial Intelligence in Alpha-1 Antitrypsin Deficiency: A Systematic Review from a Respiratory Medicine Perspective.

[object Object], [object Object], [object Object] et al. · Medicina (Kaunas) · 2025

PMID: 41155753Meta-AnalysisFull text (PMC)

Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-Analysis and Clinical Practice Guideline.

[object Object], [object Object], [object Object] et al. · Chest · 2025

PMID: 39880301Meta-Analysis

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

[object Object], [object Object], [object Object] · Orphanet J Rare Dis · 2024

PMID: 38388492Meta-AnalysisFull text (PMC)

Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency.

[object Object], [object Object], [object Object] et al. · Aliment Pharmacol Ther · 2023

PMID: 37089038Meta-AnalysisFull text (PMC)

Severe α-antitrypsin deficiency associated with lower blood pressure and reduced risk of ischemic heart disease: a cohort study of 91,540 individuals and a meta-analysis.

[object Object], [object Object], [object Object] et al. · Respir Res · 2022

PMID: 35264159Meta-AnalysisFull text (PMC)

Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease.

[object Object], [object Object], [object Object] et al. · EBioMedicine · 2022

PMID: 36155958Meta-AnalysisFull text (PMC)

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews.

[object Object], [object Object], [object Object] et al. · Eur Respir Rev · 2022

PMID: 35321931Meta-AnalysisFull text (PMC)

Prevalence of α-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review.

[object Object], [object Object], [object Object] et al. · Eur Respir Rev · 2020

PMID: 32699024Meta-AnalysisFull text (PMC)

Search all PubMed articles for alpha-1-Proteinase inhibitor deficiency

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Coughing

Always present (100%)HP:0012735

Gastric varix

Always present (100%)HP:0030169

Haemoptysis

Always present (100%)HP:0002105

Increased sputum production

Always present (100%)HP:0033709

Large spleen

Always present (100%)HP:0001744

Bronchiectasis

Very frequent (80-99%)HP:0002110

Pulmonary emphysema

Very frequent (80-99%)HP:0002097

Reduced circulating alpha-1-antitrypsin concentration

Very frequent (80-99%)HP:0032025

Bronchitis

Frequent (30-79%)HP:0012387

Decreased DLCO

Frequent (30-79%)HP:0045051

Hepatitis

Frequent (30-79%)HP:0012115

Intrahepatic inclusion bodies

Frequent (30-79%)HP:6000976

Jaundice, neonatal

Frequent (30-79%)HP:0006579

Liver fibrosis

Frequent (30-79%)HP:0001395

Neonatal unconjugated hyperbilirubinemia

Frequent (30-79%)HP:0008176

Yellowing of the skin

Frequent (30-79%)HP:0000952

Anti-neutrophil cytoplasmic antibody positivity

Occasional (5-29%)HP:0032230

Bronchial asthma

Occasional (5-29%)HP:0002099

Chronic bronchitis

Occasional (5-29%)HP:0004469

Cirrhosis

Occasional (5-29%)HP:0001394

Difficulty breathing

Occasional (5-29%)HP:0002094

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Portal hypertension

Occasional (5-29%)HP:0001409

Slowed or blocked flow of bile from liver

Occasional (5-29%)HP:0001396

Wheezing

Occasional (5-29%)HP:0030828

Hepatocellular carcinoma

Very rare (1-4%)HP:0001402

Inflammation of fat tissue

Very rare (1-4%)HP:0012490

COPD

HP:0006510

Elevated liver enzymes

HP:0002910

Panacinar emphysema

HP:0032967

Related Conditions

Disorder of glycoprotein metabolism(parent)

Enzymopathy(parent)

Metabolic and genetic disorder affecting the liver(parent)

Digestive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Lung disorder(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 30188007
UMLS CUI: C0221757
Fully Specified Name: Alpha-1-antitrypsin deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.