ORPHA:355
Gaucher disease
Synonyms: Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gaucher disease | Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency |
| fr | Maladie de Gaucher | Déficit en bêta-glucosidase acide · Déficit en glucocérébrosidase |
| de | Gaucher-Krankheit | Glukozerebrosidase-Mangel · Mangel der sauren beta-Glukosidase |
| es | Enfermedad de Gaucher | |
| it | Malattia di Gaucher | Deficit di acido beta-glucosidasi |
| nl | Ziekte van Gaucher | Glucocerebrosidasedeficiëntie · Zure bèta-glucosidasedeficiëntie |
| pt | Doença de Gaucher | Deficiência de beta-glucosidase ácida · Deficiência de glucocerebrosidase |
| pl | Choroba Gauchera | Niedobór glukocerebrozydazy · Niedobór kwaśnej beta-glukozydazy |
| cs | Gaucherova nemoc | Deficit kyselé beta-glukosidázy · Deficit glukocerebrosidázy |
| uk | Хвороба Гоше | Дефіцит кислої бета-глюкозидази · Дефіцит глюкоцереброзидази |
| zh | 戈谢病 | 酸性β葡萄糖苷酶缺乏症 |
| tr | Gaucher hastalığı | Glukoserebrosidaz eksikliği · Asit beta-glukozidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230800 | BTNT | validated | |
| OMIM | 230900 | BTNT | validated | |
| OMIM | 231000 | BTNT | validated | |
| OMIM | 231005 | BTNT | validated | |
| OMIM | 608013 | BTNT | validated | |
| OMIM | 610539 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0018150 | E | validated | |
| MeSH | D005776 | E | validated | |
| UMLS | C0017205 | E | validated | |
| GARD | 8233 | E | validated | |
| MedDRA | 10018048 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
4
Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GBA1 | ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 10636167[PMID]_20301446[PMID] |
| GBA1 | ORPHA:77259Gaucher disease type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 20301446[PMID] |
| GBA1 | ORPHA:77260Gaucher disease type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 20301446[PMID] |
| GBA1 | ORPHA:77261Gaucher disease type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 20301446[PMID] |
| GBA1 | ORPHA:85212Fetal Gaucher disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 20946052[PMID]_20301446[PMID] |
| PSAP | ORPHA:309252Atypical Gaucher disease due to saposin C deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:9498 | ENSG00000197746 | 176801 | 10q22.1 | prosaposin | |
| SCARB2 | ORPHA:77259Gaucher disease type 1 | Modifying germline mutation in | Assessed | HGNC:1665 | ENSG00000138760 | 602257 | 4q21.1 | scavenger receptor class B member 2 | 21796727[PMID] |
5
Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.7 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Worldwide | Value and class | Not yet validated | 23046562[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.67 / 100 000 | Spain | Value and class | Validated | 22429443[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Austria | Value and class | Validated | 22133539[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.6 / 100 000 | France | Value and class | Validated | 23046562[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | France | Value and class | Validated | 23046562[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.74 / 100 000 | France | Value and class | Validated | 23046562[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.13 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.35 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.5 / 100 000 | Hungary | Value and class | Validated | 23430949[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 / 100 000 | Turkey | Value and class | Validated | 15275696[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.11 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.224 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
93 annotations · validated 2024-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0003656 | Decreased beta-glucocerebrosidase level | |
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0003330 | Abnormal bone structure | |
| HP:0100022 | Abnormality of movement | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002829 | Arthralgia | |
| HP:0001251 | Ataxia | |
| HP:0010885 | Avascular necrosis | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002653 | Bone pain | |
| HP:0001081 | Cholelithiasis | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000716 | Depression | |
| HP:0002376 | Developmental regression | |
| HP:0002015 | Dysphagia | |
| HP:6000213 | Elevated circulating Angiotensin-converting enzyme concentration | |
| HP:0032640 | Elevated circulating CCL18 level | |
| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001945 | Fever | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001510 | Growth delay | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0001373 | Joint dislocation | |
| HP:0001882 | Leukopenia | |
| HP:0000938 | Osteopenia | |
| HP:0002757 | Recurrent fractures | |
| HP:0000486 | Strabismus | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001103 | Abnormal macular morphology | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0001697 | Abnormal pericardium morphology | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0004380 | Aortic valve calcification | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0010729 | Cherry red spot of the macula | |
| HP:0001394 | Cirrhosis | |
| HP:0007957 | Corneal opacity | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001522 | Death in infancy | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0000726 | Dementia | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0000225 | Gingival bleeding | |
| HP:0000365 | Hearing impairment | |
| HP:0000790 | Hematuria | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0012115 | Hepatitis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001252 | Hypotonia | |
| HP:0008064 | Ichthyosis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0004382 | Mitral valve calcification | |
| HP:0006775 | Multiple myeloma | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0002179 | Opisthotonus | |
| HP:0002758 | Osteoarthritis | |
| HP:0002797 | Osteolysis | |
| HP:0002754 | Osteomyelitis | |
| HP:0000939 | Osteoporosis | |
| HP:0001876 | Pancytopenia | |
| HP:0031047 | Paraproteinemia | |
| HP:0001300 | Parkinsonism | |
| HP:0002756 | Pathologic fracture | |
| HP:0003459 | Polyclonal elevation of IgM | |
| HP:0000093 | Proteinuria | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000488 | Retinopathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0004322 | Short stature | |
| HP:0001337 | Tremor | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0001399 | Hepatic failure | |
| HP:0034336 | Splenic infarction | |
| HP:0012223 | Splenic rupture | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301446[PMID]_28846219[PMID]_28218669[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/355
- This record as JSON: /data/d/355.json