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Gaucher disease

MedGen UID:
42164
Concept ID:
C0017205
Disease or Syndrome
Synonyms: Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; Glucocerebrosidosis; Glucosyl cerebroside lipidosis; Glucosylceramidase deficiency; Kerasin lipoidosis; Kerasin thesaurismosis; Sphingolipidosis 1
SNOMED CT: Chronic non-neuropathic Gaucher's disease (62201009); Chronic adult Gaucher's disease (62201009); Glucosylceramidase deficiency, chronic type (62201009); Adult Gaucher disease (62201009); Kerasin thesaurismosis (180485001); Chronic non-neuropathic Gaucher disease (62201009); Gaucher's disease (190794006); Gaucher disease (190794006); Cerebroside lipidosis syndrome (190794006); Glucocerebrosidase deficiency (190794006); Kerasin histiocytosis (190794006); Gaucher splenomegaly (190794006); Kerasin lipoidosis (190794006); Glucocerebrosidosis (190794006); Gaucher syndrome (190794006); Glucosylceramidase deficiency (190794006); Glucosylceramide beta-glucosidase deficiency (190794006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GBA1 (1q22)
Related gene: PSAP
 
Monarch Initiative: MONDO:0018150
Orphanet: ORPHA355

Disease characteristics

Excerpted from the GeneReview: Gaucher Disease
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. [from GeneReviews]
Authors:
Derralynn A Hughes  |  Gregory M Pastores   view full author information

Additional description

From MedlinePlus Genetics
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, and joint conditions such as arthritis.

Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.

Another form of Gaucher disease is known as the cardiovascular type (or type 3c) because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.  https://medlineplus.gov/genetics/condition/gaucher-disease

Professional guidelines

PubMed

Kong W, Lu C, Ding Y, Meng Y
Eur J Pharmacol 2022 Jul 5;926:175023. Epub 2022 May 13 doi: 10.1016/j.ejphar.2022.175023. PMID: 35569551
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Gupta P, Pastores G
Expert Rev Clin Pharmacol 2018 Dec;11(12):1183-1194. Epub 2018 Dec 3 doi: 10.1080/17512433.2018.1549486. PMID: 30444430

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

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Recent clinical studies

Etiology

Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
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
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E
Mol Genet Metab 2017 Jan-Feb;120(1-2):8-21. Epub 2016 Nov 17 doi: 10.1016/j.ymgme.2016.11.006. PMID: 27916601Free PMC Article
Li Y, Li P, Liang H, Zhao Z, Hashimoto M, Wei J
Cell Mol Neurobiol 2015 Aug;35(6):755-61. Epub 2015 Mar 29 doi: 10.1007/s10571-015-0176-8. PMID: 25820783Free PMC Article
Guggenbuhl P, Grosbois B, Chalès G
Joint Bone Spine 2008 Mar;75(2):116-24. Epub 2007 Aug 31 doi: 10.1016/j.jbspin.2007.06.006. PMID: 17996473

Diagnosis

Özdemir GN, Gündüz E
Turk J Haematol 2022 Jun 1;39(2):136-139. Epub 2022 Apr 20 doi: 10.4274/tjh.galenos.2021.2021.0683. PMID: 35439918Free PMC Article
Daykin EC, Ryan E, Sidransky E
Mol Genet Metab 2021 Feb;132(2):49-58. Epub 2021 Jan 9 doi: 10.1016/j.ymgme.2021.01.002. PMID: 33483255Free PMC Article
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393
Guggenbuhl P, Grosbois B, Chalès G
Joint Bone Spine 2008 Mar;75(2):116-24. Epub 2007 Aug 31 doi: 10.1016/j.jbspin.2007.06.006. PMID: 17996473

Therapy

Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ
Brain 2023 Feb 13;146(2):461-474. doi: 10.1093/brain/awac379. PMID: 36256599Free PMC Article
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E
Mol Genet Metab 2017 Jan-Feb;120(1-2):8-21. Epub 2016 Nov 17 doi: 10.1016/j.ymgme.2016.11.006. PMID: 27916601Free PMC Article
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393
McCormack PL, Goa KL
Drugs 2003;63(22):2427-34; discussion 2435-6. doi: 10.2165/00003495-200363220-00006. PMID: 14609352

Prognosis

Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Writing Committee for the COMEBAC Study Group, Morin L, Savale L, Pham T, Colle R, Figueiredo S, Harrois A, Gasnier M, Lecoq AL, Meyrignac O, Noel N, Baudry E, Bellin MF, Beurnier A, Choucha W, Corruble E, Dortet L, Hardy-Leger I, Radiguer F, Sportouch S, Verny C, Wyplosz B, Zaidan M, Becquemont L, Montani D, Monnet X
JAMA 2021 Apr 20;325(15):1525-1534. doi: 10.1001/jama.2021.3331. PMID: 33729425Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
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
Meikle PJ, Hopwood JJ, Clague AE, Carey WF
JAMA 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249. PMID: 9918480

Clinical prediction guides

Shimizu T, Schutt CR, Izumi Y, Tomiyasu N, Omahdi Z, Kano K, Takamatsu H, Aoki J, Bamba T, Kumanogoh A, Takao M, Yamasaki S
Immunity 2023 Feb 14;56(2):307-319.e8. Epub 2023 Feb 2 doi: 10.1016/j.immuni.2023.01.008. PMID: 36736320
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Revel-Vilk S, Szer J, Mehta A, Zimran A
Br J Haematol 2018 Aug;182(4):467-480. Epub 2018 May 29 doi: 10.1111/bjh.15402. PMID: 29808905
Mignot C, Gelot A, De Villemeur TB
Handb Clin Neurol 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. PMID: 23622393

Recent systematic reviews

Feng J, Gao Z, Shi Z, Wang Y, Li S
Orphanet J Rare Dis 2023 Aug 25;18(1):244. doi: 10.1186/s13023-023-02844-w. PMID: 37626429Free PMC Article
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article
Leonart LP, Fachi MM, Böger B, Silva MRD, Szpak R, Lombardi NF, Pedroso MLA, Pontarolo R
Ann Pharmacother 2023 Mar;57(3):267-282. Epub 2022 Jul 11 doi: 10.1177/10600280221108443. PMID: 35815393
Marcucci G, Zimran A, Bembi B, Kanis J, Reginster JY, Rizzoli R, Cooper C, Brandi ML
Calcif Tissue Int 2014 Dec;95(6):477-94. Epub 2014 Nov 7 doi: 10.1007/s00223-014-9923-y. PMID: 25377906
Arends M, van Dussen L, Biegstraaten M, Hollak CE
Br J Haematol 2013 Jun;161(6):832-42. Epub 2013 Apr 18 doi: 10.1111/bjh.12335. PMID: 23594419

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      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
    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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