Fabry Disease

Description

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Fabry Disease

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Cataract
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Peripheral neuropathy

And another 219 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 FABRY DISEASE have a estimated birth prevalence of 0.22 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Fabry Disease Is also known as ceramide trihexosidase deficiency, hereditary dystopic lipidosis, fd, alpha-galactosidase a deficiency, diffuse angiokeratoma, gla deficiency, angiokeratoma corporis diffusum, anderson-fabry disease.

Researches and researchers

Doctors, researchs, and experts related to Fabry Disease extracted from public data.

Fabry Disease Experts map



Current Researchs and researchers

  • SALZBURG — Pr Florian LAGLER

    Clinical expert - Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
    • Research area/topic::

      Non Interventional Study of Replagal® Home Therapy in Patients With Fabry Disease - AT


  • WIEN — Dr Vassiliki KONSTANTOPOULOU

    Clinical expert - Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Universitätsklinik für Kinder- und Jugendheilkunde, Allgemeines Krankenhaus der Stadt Wien
      — Universitätsklinik für Kinder- und Jugendheilkunde, Allgemeines Krankenhaus der Stadt Wien
    • Research area/topic::

      Non Interventional Study of Replagal® Home Therapy in Patients With Fabry Disease - AT


  • WIEN — Pr Gere SUNDER-PLASSMANN

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinik für Innere Medizin III, Allgemeines Krankenhaus der Stadt Wien
    • Research area/topic::

      Non Interventional Study of Replagal® Home Therapy in Patients With Fabry Disease - AT


  • TORONTO — Pr Jeffrey A MEDIN

    Investigator of research project

    • Institution/s:
      — Toronto General Hospital
    • Research area/topic::

      The FACTs Project: FAbry disease Clinical research and Therapeutics


  • BORDEAUX — Pr Cyril GOIZET

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

    • Institution/s:
      — Plateau Technique de Biologie Moléculaire (PTBM) - Tripode 1er étage, CHU de Bordeaux-GH Pellegrin
      — Pôle pédiatrie, CHU de Bordeaux-GH Pellegrin
    • Research area/topic::

      Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain


  • GARCHES — Pr Dominique P. GERMAIN

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — CHU Paris IdF Ouest - Hôpital Raymond Poincaré
    • Research area/topic::

      Understanding the pathophysiology of Fabry disease


  • 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


  • MAINZ — Pr Julia HENNERMANN

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Manager of registry - Director of department

    • Institution/s:
      — Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz
      — Zentrum Kinder- und Jugendmedizin, Universitätsmedizin Mainz
      — Universitätsmedizin Mainz
    • Research area/topic::

      Non Interventional Study of Replagal® Home Therapy in Patients With Fabry Disease - DE


  • MAINZ — Pr Christoph KAMPMANN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsmedizin Mainz
    • Research area/topic::

      SOPHIA Study: Observational study evaluating the use of cardiac MRI with late enhancement technique, Echocardiography, 24h Holter ECG, plasma Lyso-Gb3 and urinary Gb3, to identify early signs of progressive Fabry 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 Patients With Fabry Disease (BioFabry): An international, multicenter, epidemiological protocol - DE


  • PALERMO — Pr Giovanni DURO

    Investigator of research project

    • Institution/s:
      — Istituto di Biomedicina e Immunologia Molecolare, Consiglio Nazionale delle Ricerche
    • Research area/topic::

      Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose


  • POZZUOLI — Dr GIUSEPPINA ANDREOTTI

    Investigator of research project

    • Institution/s:
      — Consiglio Nazionale delle Ricerche, Istituto di Chimica Biomolecolare
    • Research area/topic::

      Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets


  • AMSTERDAM — Pr C.E. [Carla] HOLLAK

    Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Researcher

    • Institution/s:
      — Afdeling Inwendige Geneeskunde, Amsterdam UMC, locatie AMC
    • Research area/topic::

      Treatment of patients with Fabry disease with agalsidase alfa and agalsidase beta: phenotypic diversity necessitates the development of individualized treatment guidelines


  • LISBOA — Dr Alexandre AMARAL E SILVA

    Investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Serviço de Neurologia, Hospital S. José
    • Research area/topic::

      Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study


  • LISBOA — Dr Joaquim MACHADO CÂNDIDO

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — Serviço de Neurologia, Hospital S. José
    • Research area/topic::

      Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study


  • PORTO — Dr Maria Clara SÁ MIRANDA

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Instituto de Biologia Molecular e Celular
    • Research area/topic::

      Fabry disease- an immunological study


  • MADRID — Pr Exuperio DÍEZ TEJEDOR

    Investigator of research project

    • Institution/s:
      — Hospital Universitario La Paz
    • Research area/topic::

      Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study


  • VIGO — Dr Saida ORTOLANO

    Investigator of research project

    • Institution/s:
      — Hospital Álvaro Cunqueiro
    • Research area/topic::

      Functional evaluation of an AAV9-based vector expressing alpha-galactosidase A for potential genetic therapy of Fabry's disease


  • LAUSANNE — Dr Frédéric BARBEY

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — Service de médecine génétique, Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
      — Hôpital orthopédique, Centre Hospitalier Universitaire Vaudois CHUV
    • Research area/topic::

      Identification and characterization of growth-promoting factor(s) in Fabry disease



Mendelian

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Fabry Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GLA Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GLA
Specificity
100 %
Genes
50 %
GLA Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GLA
Specificity
100 %
Genes
50 %
GLA Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GLA
Specificity
100 %
Genes
50 %
GLA Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GLA
Specificity
100 %
Genes
50 %
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
Fabry Disease.

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

GLA
Specificity
100 %
Genes
50 %
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiac Panel.

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

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

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Specificity
1 %
Genes
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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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