Gaucher disease type III (GD3) is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. [From OMIM]
Endocrine, nutritional and metabolic diseases
Metabolic disorders
1q22
Gaucher disease type III (GD3) is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 231000.1 | Lebanon | Unknown | Hepatosplenomegaly; Anemia; Glioma Hepatosplenomegaly; Anemia; Glioma  | NM_000157.4:c.1504C>T | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 |