ORPHA:77259
Gaucher disease type 1
Synonyms: Non-cerebral juvenile Gaucher disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gaucher disease type 1 | Non-cerebral juvenile Gaucher disease |
| fr | Maladie de Gaucher type 1 | Maladie de Gaucher juvénile non cérébrale |
| de | Gaucher-Krankheit Typ 1 | Gaucher-Krankheit, nicht-neuronopathischer Typ |
| es | Enfermedad de Gaucher tipo 1 | Enfermedad de Gaucher juvenil no cerebral |
| it | Malattia di Gaucher, tipo 1 | Malattia di Gaucher, tipo non cerebrale giovanile |
| nl | Ziekte van Gaucher type 1 | GD1 · Ziekte van Gaucher, non-neuronopathische vorm |
| pt | Doença de Gaucher tipo 1 | Doença de Gaucher não-cerebral juvenil |
| pl | Choroba Gauchera typu 1 | Niemózgowa młodzieńcza choroba Gauchera |
| cs | Gaucherova choroba, typ 1 | Non-cerebrální juvenilní Gaucherova nemoc |
| uk | Хвороба Гоше, тип 1 | Нецеребральна ювенільна хвороба Гоше |
| zh | 戈谢病1型 | 非脑幼年型戈谢病 |
| tr | Gaucher hastalığı tip 1 | Serebral olmayan jüvenil Gaucher hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230800 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009265 | E | validated | |
| UMLS | C1961835 | E | validated | |
| GARD | 2441 | E | validated | |
| MedDRA | 10075697 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:98544Cerebral lipidosis with dementia
rare genetic diseases; rare neurological diseases - ORPHA:355Gaucher disease
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:217638Lysosomal disease with restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:399185Rare hereditary disease with avascular necrosis
rare genetic diseases; rare systemic and rheumatological diseases; rare bone diseases - ORPHA:264968Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
rare respiratory diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4177 | ENSG00000177628 | 606463 | 1q22 | glucosylceramidase beta 1 | 20301446[PMID] |
| SCARB2 | Modifying germline mutation in | Assessed | HGNC:1665 | ENSG00000138760 | 602257 | 4q21.1 | scavenger receptor class B member 2 | 21796727[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 2.48 / 100 000 | Italy | Value and class | Validated | 11953730[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.
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HPO phenotypes
49 annotations · validated 2023-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0010885 | Avascular necrosis | |
| HP:0002653 | Bone pain | |
| HP:0003656 | Decreased beta-glucocerebrosidase level | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001971 | Hypersplenism | |
| HP:0002797 | Osteolysis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001903 | Anemia | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000225 | Gingival bleeding | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001876 | Pancytopenia | |
| HP:0031830 | Pinguecula | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001541 | Ascites | |
| HP:0005230 | Biliary tract obstruction | |
| HP:0001081 | Cholelithiasis | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0000716 | Depression | |
| HP:0032640 | Elevated circulating CCL18 level | |
| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
| HP:0000790 | Hematuria | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0001882 | Leukopenia | |
| HP:0006775 | Multiple myeloma | |
| HP:0002758 | Osteoarthritis | |
| HP:0002756 | Pathologic fracture | |
| HP:0001409 | Portal hypertension | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0004322 | Short stature | |
| HP:0002176 | Spinal cord compression | |
| HP:0034336 | Splenic infarction | |
| HP:0002953 | Vertebral compression fracture | |
| Very rare (<4-1%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0001399 | Hepatic failure | |
| HP:0001300 | Parkinsonism | |
| HP:0012223 | Splenic rupture | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301446[PMID]_20301446[PMID]_3294411[PMID]_30049986[PMID]_26674302[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77259
- This record as JSON: /data/d/77259.json