Alpha-1-antitrypsin Deficiency

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Alpha-1-antitrypsin Deficiency

  • Neoplasm
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress
  • Weight loss
  • Dyspnea
  • Jaundice
  • Elevated hepatic transaminase
  • Carcinoma

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available ALPHA-1-ANTITRYPSIN DEFICIENCY have a estimated prevalence of 20 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Alpha-1-antitrypsin Deficiency Is also known as deficiency in alpa-1-proteinase inhibitor.

Researches and researchers

Doctors, researchs, and experts related to Alpha-1-antitrypsin Deficiency extracted from public data.

Alpha-1-antitrypsin Deficiency Experts map



Current Researchs and researchers

  • HANNOVER — Pr Ulrich MARTIN

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Medizinische Hochschule Hannover
    • Research area/topic::

      CARPuD: Network Cellular Approaches for Rare Pulmonary Diseases


  • DUBLIN — Ms Catherine O'CONNOR (MOVED JOBS)

    Investigator of research project

    • Institution/s:
      — RCSI Education & Research Centre, Beaumont Hospital
    • Research area/topic::

      Alpha-1 antitrypsin deficiency: Which is important phenotype, level, activity or all three?


  • DUBLIN — Dr Emer REEVES

    Investigator of research project

    • Institution/s:
      — RCSI Education & Research Centre, Beaumont Hospital
    • Research area/topic::

      Altered lipid raft cholesterol content contributes to the dysregulated activity of neutrophils in alpha-1 antitrypsin deficiency


  • MILANO — Dr Sergio HARARI

    Coordinator of expert centre - Principal investigator of clinical trial - Coordinator of research network

    • Institution/s:
      — Ospedale San Giuseppe
      — Ospedale San Giuseppe
    • Research area/topic::

      Il Polmone.it - Malattie Rare Polmonari


  • MILANO — Dr Roberto SITIA

    Investigator of research project

    • Institution/s:
      — Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele
    • Research area/topic::

      Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target


  • PADOVA — Dr Nicola ELVASSORE

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Padova
    • Research area/topic::

      Drug testing for liver disease in alpha-1 antitrypsin deficiency by a large-scale patient-specific hiPS cells library


  • LEIDEN — Dr Laura FREGONESE

    Investigator of research project - Coordinator of patient registry network

    • Institution/s:
      — LUMC - Leids Universitair Medisch Centrum
    • Research area/topic::

      PAAIR: Patient's Association and Alpha-1 International Registry network (coordination)


  • VALENCIA — Pr Francisco DASÍ FERNÁNDEZ

    Investigator of research project

    • Institution/s:
      — INCLIVA
    • Research area/topic::

      Design and development of a method based on CRISPR/Cas9 to repair the alpha-1 antitrypsin gene


  • VALENCIA — Pr Amparo ESCRIBANO MONTANER

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Hospital Clínico Universitario de Valencia
      — Universitat de València. Facultat de Medicina i Odontologia
    • Research area/topic::

      Design and development of a method based on CRISPR/Cas9 to repair the alpha-1 antitrypsin gene


  • BELLINZONA — Dr Maurizio MOLINARI

    Investigator of research project

    • Institution/s:
      — Protein Folding and Quality Control - Institute for Research in Biomedicine, Istituto di Ricerca in Biomedicina
    • Research area/topic::

      Investigating cellular mechanisms regulating protein folding and quality control to intervene in conformational diseases


  • BIRMINGHAM — Ms Mahitha GUMMADI

    Investigator of research project

    • Institution/s:
      — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
      — St John's Institute of Dermatology, St Thomas' Hospital
      — D Floor, South Block, Queen's Medical Centre
      — Southampton General Hospital
    • Research area/topic::

      Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)


  • BIRMINGHAM — Pr Robert STOCKLEY

    Investigator of research project - Manager of registry

    • Institution/s:
      — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
      — Outpatient,Ground Floor, Queen Elizabeth Hospital Birmingham
    • Research area/topic::

      Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)


  • LONDON — Ms Mahitha GUMMADI

    Investigator of research project

    • Institution/s:
      — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
      — St John's Institute of Dermatology, St Thomas' Hospital
      — D Floor, South Block, Queen's Medical Centre
      — Southampton General Hospital
    • Research area/topic::

      Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)


  • NOTTINGHAM — Ms Mahitha GUMMADI

    Investigator of research project

    • Institution/s:
      — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
      — St John's Institute of Dermatology, St Thomas' Hospital
      — D Floor, South Block, Queen's Medical Centre
      — Southampton General Hospital
    • Research area/topic::

      Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)


  • SOUTHAMPTON — Ms Mahitha GUMMADI

    Investigator of research project

    • Institution/s:
      — Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
      — St John's Institute of Dermatology, St Thomas' Hospital
      — D Floor, South Block, Queen's Medical Centre
      — Southampton General Hospital
    • Research area/topic::

      Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme)



Mendelian

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Alpha-1-antitrypsin Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Alpha-1-Antitrypsin Deficiency, DNA Analysis.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SERPINA1
Specificity
100 %
Genes
100 %
SERPINA1 Sequencing or Genotyping.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SERPINA1
Specificity
100 %
Genes
100 %
SERPINA1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SERPINA1
Specificity
100 %
Genes
100 %
Liver Diseases Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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