Glycogen Storage Disease Ii; Gsd2

Description

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ii; Gsd2

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Ptosis

And another 69 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 GLYCOGEN STORAGE DISEASE II; GSD2 have a estimated birth prevalence of 0.8 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Glycogen Storage Disease Ii; Gsd2 Is also known as amd, cardiomegalia glycogenica diffusa, alpha-1,4-glucosidase deficiency, gaa deficiency, acid maltase deficiency, pompe disease, glycogenosis, generalized, cardiac form, acid alpha-glucosidase deficiency, gsd ii.

Researches and researchers

Doctors, researchs, and experts related to Glycogen Storage Disease Ii; Gsd2 extracted from public data.

Glycogen Storage Disease Ii; Gsd2 Experts map



Current Researchs and researchers

  • SHERBROOKE — Dr Sebastien LEVESQUE

    Clinical geneticist - Investigator of research project

    • Institution/s:
      — Département de Pédiatrie, CHU Sherbrooke - Hôpital Fleurimont
    • Research area/topic::

      NOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES


  • LYON — Dr Marie-Thérèse VANIER

    Coordinator of research network

    • Institution/s:
      — INSERM U 820, Faculté de médecine - RTH Laënnec
    • Research area/topic::

      Réseau sur les maladies de surcharge lysosomales


  • PARIS — Dr Catherine CAILLAUD

    Responsible for diagnostic tests - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Département de Biologie - Tour Lavoisier (4ème étage), CHU Paris - Hôpital Necker-Enfants Malades
      — INSERM U1151 - Institut Necker-Enfants Malades (INEM), Faculté de médecine Paris-Descartes, Site Necker
    • Research area/topic::

      Development of molecular therapies for glycogenosis type II (Pompe disease)


  • VERSAILLES — Dr Luis GARCIA

    Investigator of research project

    • Institution/s:
      — UFR des sciences de la santé Simone Veil, Université de Versailles Saint-Quentin
    • Research area/topic::

      Splice switching methods for the treatment of Pompe disease


  • ROSTOCK — Pr Arndt ROLFS

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Albrecht-Kossel-Institute for Neuroregeneration (AKos)
      — Centogene AG
    • Research area/topic::

      Biomarker for Pompe Disease (BioPompe): An International, multicentre, epidemiological protocol


  • GENOVA — Dr Mirella FILOCAMO

    Responsible for diagnostic tests - Investigator of research project - Manager of biobank/collection - Coordinator of biobank network - Director of laboratory - Quality manager

    • Institution/s:
      — IRCCS Istituto G. Gaslini - Ospedale Pediatrico
    • Research area/topic::

      Molecular characterization of metabolic-genetic diseases


  • NAPOLI — Pr Giancarlo PARENTI

    Coordinator of expert centre - Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — TIGEM - Telethon Institute of Genetics and Medicine
      — Dipartimento di Pediatria, Azienda Ospedaliera Universitaria "Federico II"
      — Dipartimento di Pediatria, Azienda Ospedaliera Universitaria "Federico II"
    • Research area/topic::

      Identification of novel therapeutic approaches to lysosomal disorders


  • UDINE — Dr Bruno BEMBI

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of research project - Director of department

    • Institution/s:
      — Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
      — Centro Regionale di Coordinamento per le Malattie Rare, Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
    • Research area/topic::

      Glycogen Storage disease type II: study of molecular mechanisms underlying pathophysiology and its relevance to therapy response



Mendelian

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Glycogen Storage Disease Ii; Gsd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GAA Sequence Analysis (Prenatal Diagnosis).

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By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Specificity
1 %
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GAA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GAA
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100 %
Genes
100 %
GAA Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GAA
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GAA Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GAA
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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 , (...)

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Specificity
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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 , (...)

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Specificity
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Genes
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Pompe Disease.

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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