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.

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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

SOURCES: ORPHANET MESH OMIM

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Alpha-1 antitrypsin deficiency (genotyping) Panel

Portugal.

By CGC Genetics

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

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

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

Alpha1-Antitrypsin Deficiency Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SERPINA1 gene.

More info about this panel

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

Alpha1-Antitrypsin Deficiency Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Alpha1-Antitrypsin Deficiency,SERPINA1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the SERPINA1 gene.

More info about this panel

Alpha1-Antitrypsin Deficiency (SERPINA1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the SERPINA1 gene.

More info about this panel

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

Alpha-1-Antitrypsin deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SERPINA1 gene.

More info about this panel

Alpha-1-Antitrypsin deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

Alpha-1-Antitrypsin deficiency Panel

Slovakia.

By MedGene

This panel specifically test the SERPINA1 gene.

More info about this panel

Alpha-1-Antitrypsin deficiency Panel

Slovakia.

By MedGene

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

SERPINA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

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

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

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

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

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

ALPHA-1-ANTITRYPSIN DEFICIENCY Panel

Spain.

By Bioarray

This panel specifically test the SERPINA1 gene.

More info about this panel

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

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

ALPHA-1 ANTITRYPSIN DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SERPINA1 gene.

More info about this panel

Alpha1-Antitrypsin Deficiency, Sequencing SERPINA1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SERPINA1 gene.

More info about this panel

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

Alpha-1-antitrypsin deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the SERPINA1 gene.

More info about this panel

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


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