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Gaucher disease type 3A

MedGen UID:
383926
•Concept ID:
C1856491
•
Disease or Syndrome
Synonym: GAUCHER DISEASE, TYPE IIIA
 
OMIM®: 231000

Professional guidelines

PubMed

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A
Eur J Med Genet 2021 Nov;64(11):104339. Epub 2021 Sep 6 doi: 10.1016/j.ejmg.2021.104339. PMID: 34500086
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N
Orphanet J Rare Dis 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. PMID: 25968608Free PMC Article

Curated

American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022

Recent clinical studies

Etiology

High-frequency component in flash visual evoked potentials in type 3 Gaucher disease.
Oguri M, Saito Y, Okanishi T, Matuura Y, Akiyama S, Ikeguchi T, Narita A, Hirooka Y, Maegaki Y
Brain Dev 2020 Jan;42(1):19-27. Epub 2019 Sep 24 doi: 10.1016/j.braindev.2019.08.005. PMID: 31561936
Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series.
Andréasson M, Solders G, Björkvall CK, Machaczka M, Svenningsson P
Sci Rep 2019 Oct 25;9(1):15358. doi: 10.1038/s41598-019-51976-2. PMID: 31653957Free PMC Article
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N
Orphanet J Rare Dis 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. PMID: 25968608Free PMC Article

Diagnosis

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A
Eur J Med Genet 2021 Nov;64(11):104339. Epub 2021 Sep 6 doi: 10.1016/j.ejmg.2021.104339. PMID: 34500086
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P
Blood Cells Mol Dis 2007 May-Jun;38(3):287-93. Epub 2006 Dec 29 doi: 10.1016/j.bcmd.2006.11.003. PMID: 17196853
Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a.
Tüzün E, Baykan B, Gürses C, Gökyigit A
Seizure 2000 Oct;9(7):469-72. doi: 10.1053/seiz.2000.0426. PMID: 11034870
Molecular aspects of Gaucher disease.
Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny EH, Zimran A, Horowitz M
Dev Neurosci 1991;13(4-5):352-62. doi: 10.1159/000112185. PMID: 1817042

Therapy

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A
Eur J Med Genet 2021 Nov;64(11):104339. Epub 2021 Sep 6 doi: 10.1016/j.ejmg.2021.104339. PMID: 34500086
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N
Orphanet J Rare Dis 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. PMID: 25968608Free PMC Article
Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.
Pandi S, Chandran V, Deshpande A, Kurien A
BMJ Case Rep 2014 May 8;2014 doi: 10.1136/bcr-2014-203713. PMID: 24811560Free PMC Article
Bisphosphonate-induced osteonecrosis of the jaws, bone markers, and a hypothesized candidate gene.
Lehrer S, Montazem A, Ramanathan L, Pessin-Minsley M, Pfail J, Stock RG, Kogan R
J Oral Maxillofac Surg 2009 Jan;67(1):159-61. doi: 10.1016/j.joms.2008.09.015. PMID: 19070762
The role of neurogenetics in Gaucher disease.
Brady RO, Barton NW, Grabowski GA
Arch Neurol 1993 Nov;50(11):1212-24. doi: 10.1001/archneur.1993.00540110088009. PMID: 8215980

Prognosis

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG
Int J Mol Sci 2017 Feb 17;18(2) doi: 10.3390/ijms18020441. PMID: 28218669Free PMC Article
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N
Orphanet J Rare Dis 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. PMID: 25968608Free PMC Article
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P
Blood Cells Mol Dis 2007 May-Jun;38(3):287-93. Epub 2006 Dec 29 doi: 10.1016/j.bcmd.2006.11.003. PMID: 17196853

Clinical prediction guides

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A
Eur J Med Genet 2021 Nov;64(11):104339. Epub 2021 Sep 6 doi: 10.1016/j.ejmg.2021.104339. PMID: 34500086
Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series.
Andréasson M, Solders G, Björkvall CK, Machaczka M, Svenningsson P
Sci Rep 2019 Oct 25;9(1):15358. doi: 10.1038/s41598-019-51976-2. PMID: 31653957Free PMC Article
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C, Belmatoug N
Orphanet J Rare Dis 2015 May 13;10:62. doi: 10.1186/s13023-015-0275-0. PMID: 25968608Free PMC Article
Molecular aspects of Gaucher disease.
Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny EH, Zimran A, Horowitz M
Dev Neurosci 1991;13(4-5):352-62. doi: 10.1159/000112185. PMID: 1817042
Prevalent and rare mutations among Gaucher patients.
Eyal N, Wilder S, Horowitz M
Gene 1990 Dec 15;96(2):277-83. doi: 10.1016/0378-1119(90)90264-r. PMID: 2269438

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    Curated

    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Gaucher Disease; Decreased beta-glucocerebrosidase activity, 2022
    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased ß-glucocerebrosidase, Gaucher disease, 2022

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