ORPHA:77260
Gaucher disease type 2
Synonyms: Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gaucher disease type 2 | Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease |
| fr | Maladie de Gaucher type 2 | Maladie de Gaucher cérébrale infantile · Maladie de Gaucher neuronopathique aiguë |
| de | Gaucher-Krankheit Typ 2 | Gaucher-Krankheit, akut-neuronopathischer Typ · Gaucher-Krankheit, infantile, zerebrale Form |
| es | Enfermedad de Gaucher tipo 2 | Enfermedad de Gaucher aguda neuronopática · Enfermedad de Gaucher cerebral infantil |
| it | Malattia di Gaucher, tipo 2 | Malattia acuta di Gaucher, tipo neuropatico · Malattia di Gaucher, tipo cerebrale infantile |
| nl | Ziekte van Gaucher type 2 | GD2 · Infantiele cerebrale ziekte van Gaucher · Ziekte van Gaucher, acute neuronopathische vorm |
| pt | Doença de Gaucher tipo 2 | Doença de Gaucher tipo agudo neuronopático · Gaucher cerebral infantil |
| pl | Choroba Gauchera typu 2 | Dziecięca mózgowa choroba Gauchera · Ostra neuropatyczna choroba Gauchera |
| cs | Gaucherova choroba, typ 2 | Akutní neuronopatická forma Gaucherovy choroby · Infantilní cerebrální Gaucherova choroba |
| uk | Хвороба Гоше, тип 2 | Гостра нейронопатична хвороба Гоше · Інфантильна церебральна хвороба Гоше |
| zh | 戈谢病2型 | 急性神经性戈谢病 |
| tr | Gaucher hastalığı tip 2 | İnfantil serebral Gaucher hastalığı · Akut nöronopatik Gaucher hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230900 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0009266 | E | validated | |
| UMLS | C0268250 | E | validated | |
| GARD | 2442 | E | validated | |
| MedDRA | 10075698 | 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 (7):
- 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: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 - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 0.01 / 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
33 annotations · validated 2024-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0001298 | Encephalopathy | |
| HP:0002240 | Hepatomegaly | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0001257 | Spasticity | |
| HP:0001744 | Splenomegaly | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0001903 | Anemia | |
| HP:0003656 | Decreased beta-glucocerebrosidase level | |
| HP:0002094 | Dyspnea | |
| HP:0001371 | Flexion contracture | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001252 | Hypotonia | |
| HP:0000737 | Irritability | |
| HP:0025425 | Laryngospasm | |
| HP:0002179 | Opisthotonus | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| HP:0010307 | Stridor | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000211 | Trismus | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001695 | Cardiac arrest | |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0008064 | Ichthyosis | |
| HP:0001790 | Nonimmune hydrops fetalis | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 29656334[PMID]_30612093[PMID]_20301446[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77260
- This record as JSON: /data/d/77260.json