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Gaucher disease type 3B

MedGen UID:: 344746
•Concept ID:: C1856492
•: Disease or Syndrome

Synonym:	GAUCHER DISEASE, TYPE IIIB

OMIM®:	231000

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Lysosomal storage disease
      - Gaucher disease
        Gaucher disease type 3B

Professional guidelines

PubMed

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: 32014045 Free PMC Article

See all (1)

Curated

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

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

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

See all (3)

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: 32014045 Free 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

See all (3)

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

See all (3)

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: 32014045 Free 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

See all (2)

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: 32014045 Free 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

See all (2)

MedGen

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Gaucher disease type 3B

Term Hierarchy

Professional guidelines

PubMed

Curated

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

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

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Consumer resources

Reviews

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