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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
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)
 
Related genes: PSAP, GBA
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 identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with 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. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity. [from GeneReviews]
Authors:
Gregory M Pastores  |  Derralynn A Hughes   view full author information

Additional description

From GHR
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), lung disease, and bone abnormalities such as bone pain, fractures, and 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.The most severe type of Gaucher disease is 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.Another form of Gaucher disease is known as the cardiovascular type 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).  https://ghr.nlm.nih.gov/condition/gaucher-disease

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P
Orphanet J Rare Dis 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z. PMID: 28468677Free PMC Article
Pandey MK, Burrow TA, Rani R, Martin LJ, Witte D, Setchell KD, Mckay MA, Magnusen AF, Zhang W, Liou B, Köhl J, Grabowski GA
Nature 2017 Mar 2;543(7643):108-112. Epub 2017 Feb 22 doi: 10.1038/nature21368. PMID: 28225753
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
Reihani N, Arlet JB, Dussiot M, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Hermine O, Le Van Kim C, Franco M
Haematologica 2016 Dec;101(12):1489-1498. Epub 2016 Jul 28 doi: 10.3324/haematol.2016.147546. PMID: 27470603Free PMC Article
Jung O, Patnaik S, Marugan J, Sidransky E, Westbroek W
Expert Rev Proteomics 2016 May;13(5):471-9. Epub 2016 Apr 21 doi: 10.1080/14789450.2016.1174583. PMID: 27098312Free PMC Article

Diagnosis

Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P
Orphanet J Rare Dis 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z. PMID: 28468677Free 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
Watanabe A, Gekka T, Arai K, Tsuneoka H
Ophthalmic Genet 2017 May-Jun;38(3):273-276. Epub 2016 Jul 18 doi: 10.1080/13816810.2016.1193878. PMID: 27429014
Drugan C, Drugan TC, Miron N, Grigorescu-Sido P, Naşcu I, Cătană C
Hematology 2016 Jul;21(6):379-86. Epub 2016 Feb 24 doi: 10.1080/10245332.2016.1144336. PMID: 26903266
Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD; Splenomegaly Gaucher Disease study group.
Eur J Haematol 2016 Apr;96(4):352-9. Epub 2015 Jun 11 doi: 10.1111/ejh.12596. PMID: 26033455

Therapy

Ceravolo F, Grisolia M, Sestito S, Falvo F, Moricca MT, Concolino D
J Med Case Rep 2017 Jan 20;11(1):19. doi: 10.1186/s13256-016-1147-5. PMID: 28103924Free PMC Article
Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, Maison-Blanche P, Merkel M, Niederau C, Plӧckinger U, Richter J, Stulnig TM, Vom Dahl S, Cox TM
Eur J Intern Med 2017 Jan;37:25-32. Epub 2016 Aug 10 doi: 10.1016/j.ejim.2016.07.011. PMID: 27522145
Watanabe A, Gekka T, Arai K, Tsuneoka H
Ophthalmic Genet 2017 May-Jun;38(3):273-276. Epub 2016 Jul 18 doi: 10.1080/13816810.2016.1193878. PMID: 27429014
Giuffrida G, Lombardo R, Di Francesco E, Parrinello L, Di Raimondo F, Fiumara A
J Med Case Rep 2016 Nov 8;10(1):315. doi: 10.1186/s13256-016-1060-y. PMID: 27821156Free PMC Article
Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N
Mol Genet Metab 2016 Feb;117(2):95-103. Epub 2015 Sep 7 doi: 10.1016/j.ymgme.2015.09.002. PMID: 26387627

Prognosis

Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ
Am J Hematol 2017 Nov;92(11):1170-1176. Epub 2017 Oct 3 doi: 10.1002/ajh.24877. PMID: 28762527Free 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
Goldblatt J, Fletcher JM, McGill J, Szer J, Wilson M
S Afr Med J 2016 May 25;106(6 Suppl 1):S79-81. PMID: 27245534
Okubo Y, Goto M, Sakakibara H, Terakawa T, Kaneko T, Miyama S
Pediatr Neurol 2014 Dec;51(6):837-9. Epub 2014 Sep 6 doi: 10.1016/j.pediatrneurol.2014.08.029. PMID: 25301225

Clinical prediction guides

Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Gaemers SJM, Tayag R, Peterschmitt MJ
Am J Hematol 2017 Nov;92(11):1170-1176. Epub 2017 Oct 3 doi: 10.1002/ajh.24877. PMID: 28762527Free PMC Article
Ceravolo F, Grisolia M, Sestito S, Falvo F, Moricca MT, Concolino D
J Med Case Rep 2017 Jan 20;11(1):19. doi: 10.1186/s13256-016-1147-5. PMID: 28103924Free PMC Article
Aflaki E, Borger DK, Moaven N, Stubblefield BK, Rogers SA, Patnaik S, Schoenen FJ, Westbroek W, Zheng W, Sullivan P, Fujiwara H, Sidhu R, Khaliq ZM, Lopez GJ, Goldstein DS, Ory DS, Marugan J, Sidransky E
J Neurosci 2016 Jul 13;36(28):7441-52. doi: 10.1523/JNEUROSCI.0636-16.2016. PMID: 27413154Free PMC Article
Giraldo P, Pérez-López J, Núñez R, de la Puebla RF, Luño E, Saura-Grau S, Bureo JC, Plaza S, de la Serna J
Blood Cells Mol Dis 2016 Jan;56(1):23-30. Epub 2015 Oct 9 doi: 10.1016/j.bcmd.2015.10.001. PMID: 26603719
Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD; Splenomegaly Gaucher Disease study group.
Eur J Haematol 2016 Apr;96(4):352-9. Epub 2015 Jun 11 doi: 10.1111/ejh.12596. PMID: 26033455

Recent systematic reviews

Raskovalova T, Deegan PB, Yang R, Pavlova E, Stirnemann J, Labarère J, Zimran A, Mistry PK, Berger M
Syst Rev 2017 Apr 20;6(1):87. doi: 10.1186/s13643-017-0483-x. PMID: 28427477Free PMC Article
Regenboog M, van Kuilenburg AB, Verheij J, Swinkels DW, Hollak CE
Blood Rev 2016 Nov;30(6):431-437. Epub 2016 May 27 doi: 10.1016/j.blre.2016.05.003. PMID: 27265538
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM
Cochrane Database Syst Rev 2015 Mar 27;(3):CD010324. doi: 10.1002/14651858.CD010324.pub2. PMID: 25812601
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
Bennett LL, Mohan D
Ann Pharmacother 2013 Sep;47(9):1182-93. doi: 10.1177/1060028013500469. PMID: 24259734

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