SERPINA1 gene related symptoms and diseases
All the information presented here about the SERPINA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SERPINA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormal lung morphology | Common - Between 50% and 80% cases |
| Chronic obstructive pulmonary disease | Common - Between 50% and 80% cases |
| Emphysema | Common - Between 50% and 80% cases |
| Bronchiectasis | Uncommon - Between 30% and 50% cases |
| Chronic lung disease | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SERPINA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Bronchitis
- Asthma
- Panniculitis
- Neoplasm of the liver
- Hepatocellular carcinoma
- Hemoptysis
- Wheezing
- Portal hypertension
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SERPINA1 gene
Here you will find a list of rare diseases related to the SERPINA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALPHA-1-ANTITRYPSIN DEFICIENCY
Alternate names
ALPHA-1-ANTITRYPSIN DEFICIENCY Is also known as deficiency in alpa-1-proteinase inhibitor
Description
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
Most common symptoms of ALPHA-1-ANTITRYPSIN DEFICIENCY
- Neoplasm
- Hypertension
- Hepatomegaly
- Fatigue
- Respiratory distress
More info about ALPHA-1-ANTITRYPSIN DEFICIENCY
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD
Description
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004).
Most common symptoms of PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD
- Asthma
- Abnormal lung morphology
- Emphysema
- Bronchitis
- Chronic lung disease
More info about PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD
SOURCES: OMIM
HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION
Description
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is a rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
More info about HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION
SOURCES: ORPHANET
Search interest in SERPINA1
Potential gene panels for SERPINA1 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Alpha-1-Antitrypsin Deficiency, DNA Analysis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the SERPINA1 gene.
More info about this panel Canada.
SERPINA1 Sequencing or Genotyping Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
SERPINA1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Liver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel United States.
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Cystic Lung Disease Panel (8 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cystic Lung Disease Panel (8 Genes) that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panel United States.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Alpha-1-Antitrypsin Mutation / Genotyping Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the SERPINA1 gene.
More info about this panel Canada.
SERPINA1. Detection of the mutations Glu342Lys (alelo PI-Z) and Glu264Val (alelo PI-S) Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
SERPINA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Cholestasis Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Cholestasis Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Alpha-1 antitrypsin deficiency (genotyping) Panel
Portugal.
By CGC Genetics
This panel specifically test the SERPINA1 gene.
More info about this panel Portugal.
Alpha-1 antitrypsin deficiency (sequence analysis of SERPINA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SERPINA1 gene.
More info about this panel Portugal.
Alpha 1 anti-trypsin ( Z, X & M mutations ) Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the SERPINA1 gene.
More info about this panel India.
Cholestasis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4
More info about this panel United States.
Alpha-1 Antitrypsin Deficiency via SERPINA1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Alpha1-Antitrypsin Deficiency Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Alpha1-Antitrypsin Deficiency Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Alpha 1 antitrypsin deficiency Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Alpha1-Antitrypsin Deficiency Panel
Czech Republic.
By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the SERPINA1 gene.
More info about this panel Czech Republic.
Antitrypsin-alpha-1 deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Alpha1-Antitrypsin Deficiency Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Alpha-1-antitrypsin deficiency Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Alpha1-Antitrypsin Deficiency Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the SERPINA1 gene.
More info about this panel Poland.
Alpha1-Antitrypsin Deficiency,SERPINA1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the SERPINA1 gene.
More info about this panel Israel.
Alpha1-Antitrypsin Deficiency (SERPINA1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Ashkenazi Jewish diseases Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR
More info about this panel Estonia.
Alpha-1-Antitrypsin deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SERPINA1 gene.
More info about this panel Austria.
Alpha-1-Antitrypsin deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SERPINA1 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Alpha-1-Antitrypsin deficiency Panel
Slovakia.
By MedGene
This panel specifically test the SERPINA1 gene.
More info about this panel Slovakia.
Alpha-1-Antitrypsin deficiency Panel
Slovakia.
By MedGene
This panel specifically test the SERPINA1 gene.
More info about this panel Slovakia.
Alpha-1-Antitrypsin deficiency (AAT): SERPINA1 gene (alleles M, S, Z) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
Pulmonary Disease: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panel United States.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
Cystic Lung Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Sequencing Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Cystic Lung Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panel United States.
Cystic Lung Disease NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cystic Lung Disease NGS Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panel United States.
Lung Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panel United States.
Cholestasis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cholestasis NGS Panel that also includes the following genes: SLC25A13 ATP8B1 AKR1D1 ABCB11 ABCB4 JAG1 SERPINA1
More info about this panel United States.
SERPINA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Alpha-1 Antitrypsin (AAT) Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Alpha-1 Antitrypsin (AAT) Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the SERPINA1 gene.
More info about this panel United States.
Cystic Lung Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Lung Disease Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1
More info about this panel Finland.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Metabolic Liver Failure Panel Panel
Finland.
By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panel Finland.
ALPHA-1-ANTITRYPSIN DEFICIENCY Panel
Spain.
By Bioarray
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
ALPHA-1 ANTITRYPSIN DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
Alpha1-Antitrypsin Deficiency, Sequencing SERPINA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SERPINA1 gene.
More info about this panel Spain.
SERPINA1 sequencing Panel
Canada.
By Genetics Laboratory, Trillium Health Partners Credit Valley Site, Trillium Health Partners
This panel specifically test the SERPINA1 gene.
More info about this panel Canada.
Alpha-1-antitrypsin deficiency Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SERPINA1 gene.
More info about this panel Germany.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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