Gaucher disease

General Information (adopted from Orphanet):

Synonyms, Signs: Glucocerebrosidase deficiency
Acid beta-glucosidase deficiency
Number of Symptoms 0
OrphanetNr: 355
OMIM Id: 230800
ICD-10: E75.2
UMLs: C0017205
MeSH: D005776
MedDRA: 10018048
Snomed: 190794006

Prevalence, inheritance and age of onset:

Prevalence: <= 9 of 100 000
Inheritance: Autosomal recessive
25755533 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease with restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease
 -Rare genetic disease


This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Gaucher disease comprises the following entries: Phenodis:6334 Gaucher disease type 1 Orphanet:77259; Phenodis:6335 Gaucher disease type 2 Orphanet:77260; Phenodis:6336 Gaucher disease type 3 Orphanet:77261; Phenodis:1962 Gaucher disease - ophthalmoplegia - cardiovascular calcification Orphanet:2072; Phenodis:4501 Atypical Gaucher disease due to saposin C deficiency Orphanet:309252; Phenodis:6801 Fetal Gaucher disease Orphanet:85212;

Symptom Information: Sort by abundance 

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GBA rs104886460 pathogenic RCV000177098.1
GBA rs1064644 pathogenic RCV000020157.1
GBA rs1064651 pathogenic RCV000004525.5
GBA rs1064651 pathogenic RCV000004526.5
GBA rs1064651 pathogenic RCV000055773.1
GBA rs1064651 pathogenic RCV000004523.6
GBA rs1064651 pathogenic RCV000004524.5
GBA rs1064651 pathogenic RCV000004522.5
GBA rs1135675 pathogenic RCV000004535.4
GBA rs1135675 pathogenic RCV000004536.4
GBA rs1135675 pathogenic RCV000004533.4
GBA rs1135675 pathogenic RCV000004534.4
GBA rs1141814 pathogenic RCV000004565.4
GBA rs121908295 pathogenic RCV000004514.4
GBA rs121908297 pathogenic RCV000004539.4
GBA rs121908298 pathogenic RCV000004547.4
GBA rs121908299 pathogenic RCV000004550.4
GBA rs121908300 pathogenic RCV000004551.4
GBA rs121908301 pathogenic RCV000004552.4
GBA rs121908302 pathogenic RCV000004556.4
GBA rs121908303 pathogenic RCV000004559.4
GBA rs121908304 pathogenic RCV000004561.4
GBA rs121908305 likely pathogenic RCV000180535.1
GBA rs121908305 pathogenic RCV000004562.2
GBA rs121908306 pathogenic RCV000004563.2
GBA rs121908307 pathogenic RCV000004564.4
GBA rs121908308 pathogenic RCV000004567.4
GBA rs121908309 pathogenic RCV000180538.1
GBA rs121908309 pathogenic RCV000004570.2
GBA rs121908310 pathogenic RCV000004544.2
GBA rs121908311 pathogenic RCV000004572.2
GBA rs121908311 pathogenic RCV000004571.2
GBA rs121908311 pathogenic RCV000055772.2
GBA rs121908312 pathogenic RCV000004576.2
GBA rs121908312 pathogenic RCV000004575.3
GBA rs121908313 pathogenic RCV000004577.2
GBA rs121908314 pathogenic RCV000004578.2
GBA rs2230288 pathogenic RCV000004538.4
GBA rs364897 pathogenic RCV000004557.6
GBA rs364897 pathogenic RCV000004558.4
GBA rs364897 pathogenic RCV000020156.1
GBA rs367968666 pathogenic RCV000004581.2
GBA rs367968666 pathogenic RCV000004580.2
GBA rs381737 pathogenic RCV000004542.4
GBA rs381737 pathogenic RCV000004541.4
GBA rs381737 pathogenic RCV000020158.1
GBA rs381737 pathogenic RCV000004540.4
GBA rs387906315 pathogenic RCV000004543.4
GBA rs397518433 pathogenic RCV000004549.4
GBA rs397518434 pathogenic RCV000004566.5
GBA rs398123526 pathogenic RCV000180536.1
GBA rs398123527 pathogenic RCV000180534.1
GBA rs398123528 likely pathogenic RCV000173717.1
GBA rs398123529 pathogenic RCV000179354.1
GBA rs398123530 pathogenic RCV000179353.1
GBA rs398123532 pathogenic RCV000179793.1
GBA rs409652 pathogenic RCV000179794.1
GBA rs421016 pathogenic RCV000004510.9
GBA rs421016 pathogenic RCV000004511.8
GBA rs421016 pathogenic RCV000020150.1
GBA rs421016 pathogenic RCV000004509.8
GBA rs61748906 pathogenic RCV000179795.1
GBA rs74500255 pathogenic RCV000004537.4
GBA rs74598136 pathogenic RCV000004568.2
GBA rs75822236 pathogenic RCV000004553.5
GBA rs75822236 pathogenic RCV000020153.1
GBA rs76539814 pathogenic RCV000041967.6
GBA rs76539814 pathogenic RCV000004548.6
GBA rs76763715 pathogenic RCV000020146.1
GBA rs76763715 pathogenic RCV000004515.8
GBA rs77369218 pathogenic RCV000004527.2
GBA rs77369218 pathogenic RCV000020149.1
GBA rs77829017 pathogenic RCV000004532.4
GBA rs78198234 pathogenic RCV000004569.2
GBA rs78396650 pathogenic RCV000004560.4
GBA rs786200979 likely pathogenic RCV000179796.1
GBA rs78973108 pathogenic RCV000004573.2
GBA rs78973108 pathogenic RCV000180194.1
GBA rs78973108 pathogenic RCV000020159.1
GBA rs794727708 likely pathogenic RCV000178813.1
GBA rs794727908 likely pathogenic RCV000180196.1
GBA rs79653797 pathogenic RCV000004518.4
GBA rs79653797 pathogenic RCV000020154.1
GBA rs79653797 pathogenic RCV000004519.4
GBA rs80356759 pathogenic RCV000032094.1
GBA rs80356759 pathogenic RCV000004545.4
GBA rs80356759 pathogenic RCV000004546.4
GBA rs80356760 pathogenic RCV000020160.1
GBA rs80356763 pathogenic RCV000020155.1
GBA rs80356763 pathogenic RCV000004574.2
GBA rs80356768 pathogenic RCV000004554.4
GBA rs80356768 pathogenic RCV000020147.2
GBA rs80356768 pathogenic RCV000004555.4
GBA rs80356769 pathogenic RCV000020148.1
GBA rs80356769 pathogenic RCV000004521.2
GBA rs80356769 pathogenic RCV000004520.2
GBA rs80356771 pathogenic RCV000020151.1
GBA rs80356771 pathogenic RCV000004529.4
GBA rs80356771 pathogenic RCV000004528.5
GBA rs80356771 pathogenic RCV000004530.4
GBA rs80356772 pathogenic RCV000020152.1
PSAP rs121918105 pathogenic RCV000014292.24
PSAP rs121918106 pathogenic RCV000014294.17
PSAP rs121918108 pathogenic RCV000014299.25
PSAP rs121918109 pathogenic RCV000014300.23
PSAP rs121918110 pathogenic RCV000014301.24

Additional Information:

Diagnosis GeneReviews Gaucher disease (referred to as GD in this entry) is suspected in individuals with characteristic bone lesions, hepatosplenomegaly and hematologic changes, or signs of CNS involvement [Mistry et al 2011]. Clinical findings alone are not diagnostic. ...
Clinical Description GeneReviews Gaucher disease (GD) encompasses a spectrum of clinical findings from a perinatal-lethal form to an asymptomatic form. However, for the purposes of determining prognosis and management, the classification of GD by clinical subtype is still useful in describing the wide range of clinical findings and broad variability in presentation. Three major clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary central nervous system involvement (Table 3)....
Genotype-Phenotype Correlations GeneReviews The amount of residual glucosylceramidase enzyme activity as measured in vitro from extracts of nucleated cells does not correlate with disease type or severity. ...
Differential Diagnosis GeneReviews Saposin C deficiency or prosaposin deficiency. Saposin C is a cofactor for glucosylceramidase in the hydrolysis of GL1. Saposin C is derived from proteolytic cleavage of prosaposin, which is encoded by a gene on chromosome 10q21-q22. Individuals with saposin C deficiency or prosaposin deficiency may present with symptoms characteristic of severe neuropathic Gaucher disease (GD) (i.e., progressive horizontal ophthalmoplegia, pyramidal and cerebellar signs, myoclonic jerks, and generalized seizures) [Pampols et al 1999, Qi & Grabowski 2001] or non-neuronopathic disease [Tylki-Szymanska et al 2007]. These individuals demonstrate GL1 accumulation and visceromegaly but have normal glucosylceramidase enzyme activity measured in vitro. ...
Management GeneReviews See Surveillance for evaluations used to establish disease severity in an individual diagnosed with Gaucher disease (GD). ...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....