Gaucher disease perinatal lethal
MONDO:0011945Mondo
Findings
No curated finding names Gaucher disease perinatal lethal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
Definition from the Mondo Disease Ontology (MONDO:0011945), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal death · Stillbirth · Fetal onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 6 of 6 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
Show the remaining 21
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Frequent (30% to 79% of cases)
- Decreased beta-glucocerebrosidase levelHPOHP:0003656
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- EctropionHPOHP:0000656
- Frequent (30% to 79% of cases)
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GBA1HGNC:4177
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
8 names
Resolves to: Gaucher disease perinatal lethal
- Also called
- fetal Gaucher diseasefoetal Gaucher diseaseGaucher disease collodion typeGaucher disease, collodion typeGaucher disease, perinatal lethalGaucher disease, perinatal-lethal formGaucher's disease perinatal lethalperinatal lethal Gaucher disease