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Gaucher disease type 3B

MedGen UID:
344746
•Concept ID:
C1856492
•
Disease or Syndrome
Synonym: GAUCHER DISEASE, TYPE IIIB
 
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
Enzyme replacement therapy for Gaucher disease in Australia.
Goldblatt J, Szer J, Fletcher JM, McGill J, Rowell JA, Wilson M
Intern Med J 2005 Mar;35(3):156-61. doi: 10.1111/j.1445-5994.2004.00765.x. PMID: 15737135
Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease.
Ida H, Rennert OM, Kobayashi M, Eto Y
Eur J Pediatr 2001 Jan;160(1):21-5. doi: 10.1007/pl00008411. PMID: 11195013

Diagnosis

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
Chauhan V, Kumar RV, Mahesh DM, Kashyap R, Thakur S
J Assoc Physicians India 2013 May;61(5):346-8. PMID: 24482953
Radiographic findings in type 3b Gaucher disease.
Hill SC, Damaska BM, Tsokos M, Kreps C, Brady RO, Barton NW
Pediatr Radiol 1996 Dec;26(12):852-60. doi: 10.1007/BF03178036. PMID: 8929296

Therapy

Enzyme replacement therapy for Gaucher disease in Australia.
Goldblatt J, Szer J, Fletcher JM, McGill J, Rowell JA, Wilson M
Intern Med J 2005 Mar;35(3):156-61. doi: 10.1111/j.1445-5994.2004.00765.x. PMID: 15737135
Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease.
Ida H, Rennert OM, Kobayashi M, Eto Y
Eur J Pediatr 2001 Jan;160(1):21-5. doi: 10.1007/pl00008411. PMID: 11195013
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

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article
Enzyme replacement therapy for Gaucher disease in Australia.
Goldblatt J, Szer J, Fletcher JM, McGill J, Rowell JA, Wilson M
Intern Med J 2005 Mar;35(3):156-61. doi: 10.1111/j.1445-5994.2004.00765.x. PMID: 15737135

Clinical prediction guides

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL
Orphanet J Rare Dis 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045Free PMC Article
Radiographic findings in type 3b Gaucher disease.
Hill SC, Damaska BM, Tsokos M, Kreps C, Brady RO, Barton NW
Pediatr Radiol 1996 Dec;26(12):852-60. doi: 10.1007/BF03178036. PMID: 8929296

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    • PubMed
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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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    • OMIM
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    • PMC Articles
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