Gaucher disease type I
Findings
No curated finding names Gaucher disease type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
Definition from the Mondo Disease Ontology (MONDO:0009265), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
52 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.
- Elevated circulating glucosylsphingosine concentrationHPOHP:6001185
- 64 of 64 reported patients
- AnorexiaHPOHP:0002039
- Very frequent (80% to 99% of cases)
- Avascular necrosisHPOHP:0010885
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Decreased beta-glucocerebrosidase levelHPOHP:0003656
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
Show the remaining 40
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormality of coagulationHPOHP:0001928
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- 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
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Gaucher disease type I
- Also called
- Gaucher disease, noncerebral juvenileGaucher's disease type Inon-cerebral juvenile Gaucher disease