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Gaucher disease type 3A

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

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

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
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
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

Therapy

Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B, Le HL, Swart EL, Bikker H, Hollak CEM, Brands MM
Mol Genet Metab 2024 Sep-Oct;143(1-2):108556. Epub 2024 Jul 31 doi: 10.1016/j.ymgme.2024.108556. PMID: 39116528
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
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

Clinical prediction guides

Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B, Le HL, Swart EL, Bikker H, Hollak CEM, Brands MM
Mol Genet Metab 2024 Sep-Oct;143(1-2):108556. Epub 2024 Jul 31 doi: 10.1016/j.ymgme.2024.108556. PMID: 39116528
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
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

Recent systematic reviews

Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B, Le HL, Swart EL, Bikker H, Hollak CEM, Brands MM
Mol Genet Metab 2024 Sep-Oct;143(1-2):108556. Epub 2024 Jul 31 doi: 10.1016/j.ymgme.2024.108556. PMID: 39116528

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

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

    Consumer resources

    Reviews

    Related information

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    • PMC Articles
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