Gaucher disease type 3

Common Name(s)

Gaucher disease type 3, Subacute neuronopathic Gaucher's disease

Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. {21:Patterson et al. (1993)} suggested that there are 2 phenotypic subgroups of Gaucher disease type III: type IIIA, which is characterized by myoclonus and dementia, and type IIIB, characterized by early onset of isolated horizontal supranuclear gaze palsy and aggressive systemic disease. See also Gaucher disease type IIIC ({231005}), which is associated with cardiovascular calcifications.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease type 3" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 21 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher disease type 3" for support, advocacy or research.

The National Gaucher Foundation, Inc.

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 21 Jul 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher disease type 3" returned 13 free, full-text research articles on human participants. First 3 results:

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
 

Author(s): Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry

Journal: Mol. Genet. Metab.. ;120(1-2):47-56.

 

In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic ...

Last Updated: 1 Jan 2017

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The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.
 

Author(s): Nadia Sawicka-Gutaj, Maciej Machaczka, Izabela Kulińska-Niedziela, Jadwiga Bernardczyk-Meller, Paweł Gutaj, Jerzy Sowiński, Marek Ruchała

Journal: Ups. J. Med. Sci.. 2016 Aug;121(3):192-5.

 

Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular ...

Last Updated: 27 Jul 2016

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Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures.
 

Author(s): John Hoon Rim, Minyoul Baik, Sun Och Yoon, Kyoung Heo, Jaewoo Song

Journal: Ann Lab Med. 2016 Mar;36(2):177-9.

 

Last Updated: 28 Dec 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher disease type 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1-Gaucher Disease Type 3

 

Last Updated: 7 Jun 2017

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The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1; Gaucher Disease Type 3

 

Last Updated: 30 May 2017

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Gaucherite - A Study to Stratify Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease, Type 1; Gaucher Disease, Type 3

 

Last Updated: 11 Aug 2017

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