ORPHA:85212
Fetal Gaucher disease
Synonyms: Perinatal lethal Gaucher disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal Gaucher disease | Perinatal lethal Gaucher disease |
| fr | Maladie de Gaucher périnatale létale | |
| de | Gaucher-Krankheit, fetale | Gaucher-Krankheit, fötale · Gaucher-Krankheit, perinatal-letale Form |
| es | Enfermedad de Gaucher, forma fetal | Enfermedad de Gaucher perinatal letal |
| it | Malattia di Gaucher fetale | Malattia di Gaucher perinatale letale |
| nl | Ziekte van Gaucher, foetale vorm | Ziekte van Gaucher, perinatale letale vorm |
| pt | Doença de Gaucher perinatal letal | |
| pl | Choroba Gauchera u płodu | Prenatalna śmiertelna choroba Gauchera |
| cs | Fetální Gaucherova choroba | Perinatální letální Gaucherova choroba |
| uk | Фетальна хвороба Гоше | Перинатальна летальна хвороба Гоше |
| zh | 胎儿戈谢病 | 围产期致死性戈谢病 |
| tr | Fetal Gaucher hastalığı | Perinatal letal Gaucher hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608013 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0011945 | E | validated | |
| MeSH | C564306 | E | validated | |
| UMLS | C1842704 | E | validated | |
| GARD | 10675 | 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 (2):
- ORPHA:281241Autosomal ichthyosis syndrome with fatal disease course
rare genetic diseases; rare skin diseases - ORPHA:355Gaucher disease
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
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 | 20946052[PMID]_20301446[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
31 annotations · validated 2024-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0001522 | Death in infancy | |
| HP:0001558 | Decreased fetal movement | |
| HP:0008064 | Ichthyosis | |
| HP:0003811 | Neonatal death | |
| HP:0001876 | Pancytopenia | |
| HP:0003826 | Stillbirth | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0000463 | Anteverted nares | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0003656 | Decreased beta-glucocerebrosidase level | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000656 | Ectropion | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001371 | Flexion contracture | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000238 | Hydrocephalus | |
| HP:0001276 | Hypertonia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0002179 | Opisthotonus | |
| HP:0002033 | Poor suck | |
| HP:0001250 | Seizure | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301446[PMID]_36220738[PMID]_20301446[PMID]_12838552[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85212
- This record as JSON: /data/d/85212.json