ORPHA:77261
Gaucher disease type 3
Synonyms: Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease · Gaucher disease, subacute neuronopathic type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gaucher disease type 3 | Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease · Gaucher disease, subacute neuronopathic type |
| fr | Maladie de Gaucher type 3 | Maladie de Gaucher cérébrale juvénile et de l'adulte · Maladie de Gaucher neuronopathique chronique · Maladie de Gaucher neuronopathique subaiguë |
| de | Gaucher-Krankheit Typ 3 | Gaucher-Krankheit, chronisch-neuropathische Form · Gaucher-Krankheit, juvenile und adulte, zerebrale Form · Gaucher-Krankheit, subakut-neuropathische Form |
| es | Enfermedad de Gaucher tipo 3 | |
| it | Malattia di Gaucher, tipo 3 | Malattia cronica di Gaucher, tipo neuropatico · Malattia di Gaucher, tipo cerebrale, giovanile e adulto · Malattia di Gaucher, tipo cerebrale, giovanile e dell'adulto · Malattia subacuta di Gaucher, tipo neuronopatico |
| nl | Ziekte van Gaucher type 3 | Cerebrale juveniele en volwassen vorm van de ziekte van Gaucher · GD3 · Ziekte van Gaucher, chronische neuronopathische vorm · Ziekte van Gaucher, subacute neuronopathische vorm |
| pt | Doença de Gaucher tipo 3 | Doença de Gaucher cerebral juvenil e adulta · Doença de Gaucher tipo crónico neuronopático · Doença de Gaucher tipo subagudo neuronopático |
| pl | Choroba Gauchera typu 3 | Choroba Gauchera, typ podostry neuropatyczny · Młodzieńcza i dorosła postać mózgowa choroby Gauchera · Przewlekła neuropatyczna choroba Gauchera |
| cs | Gaucherova choroba, typ 3 | Cerebrální juvenilní a adultní forma Gaucherovy choroby · Chronická neuronopatická forma Gaucherovy choroby · Subakutní neuronopatická forma Gaucherovy choroby |
| uk | Хвороба Гоше, тип 3 | Церебральна ювенільна та доросла форма хвороби Гоше · Хронічна нейронопатична хвороба Гоше · Хвороба Гоше, підгострий нейронопатичний тип |
| zh | 戈谢病3型 | 脑型幼年和成人戈谢病 |
| tr | Gaucher hastalığı tip 3 | Kronik nöronopatik Gaucher hastalığı · Gaucher hastalığı, subakut nöronopatik tip · Gaucher hastalığının serebral jüvenil ve erişkin formu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231000 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009267 | E | validated | |
| UMLS | C0268251 | E | validated | |
| GARD | 2443 | E | validated | |
| MedDRA | 10075699 | 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 (9):
- 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98688Oculomotor apraxia
rare genetic diseases; rare ophthalmic disorders - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases - ORPHA:399185Rare hereditary disease with avascular necrosis
rare genetic diseases; rare systemic and rheumatological diseases; rare bone diseases - ORPHA:264719Secondary interstitial lung disease specific to childhood associated with a metabolic disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
40 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010885 | Avascular necrosis | |
| HP:0001298 | Encephalopathy | |
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002797 | Osteolysis | |
| HP:0001744 | Splenomegaly | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001251 | Ataxia | |
| HP:0002653 | Bone pain | |
| HP:0004963 | Calcification of the aorta | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000726 | Dementia | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001510 | Growth delay | |
| HP:0001789 | Hydrops fetalis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0000938 | Osteopenia | |
| HP:0001876 | Pancytopenia | |
| HP:0001250 | Seizure | |
| HP:0007885 | Slowed horizontal saccades | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000674 | Anodontia | |
| HP:0004380 | Aortic valve calcification | |
| HP:0000790 | Hematuria | |
| HP:0004382 | Mitral valve calcification | |
| HP:0001698 | Pericardial effusion | |
| HP:0000093 | Proteinuria | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004322 | Short stature | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 20301446[PMID]_28393750[PMID]_31531808[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77261
- This record as JSON: /data/d/77261.json