IEMbase 0288: GBA-related Glucocerebrosidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 288 |
| Nosology | 20.1.01.01 |
| Gene | GBA |
| External IDs | OMIM:230800; ORPHA:355 |
| Generated mapping | MAPPED; Gaucher_Disease.yaml |
| Candidate DisMech targets | Gaucher_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents Gaucher disease / acid beta-glucosidase deficiency. The gene
field uses GBA, while local DisMech generally uses GBA1. Inheritance is
autosomal recessive, treatability is marked yes, and prevalence is listed as
1:75,000 overall and 1:850 in Ashkenazi Jewish populations.
Clinical rows include delayed tooth eruption, developmental delay, early death, hemophagocytosis, kyphosis, liver cirrhosis, malignancy, osteoporosis, pancytopenia, pathological fractures, pulmonary hypertension, and restrictive lung disease. Biochemical rows include increased chitotriosidase, decreased beta-D-glucosidase activity, and increased serum glucosylsphingosine. Treatment rows list eliglustat, imiglucerase, taliglucerase, velaglucerase, and miglustat, with effects on blood, digestive, musculoskeletal, growth, and biomarker phenotypes.
DisMech phenotype coverage
Gaucher_Disease.yaml is the correct local target. It models GBA1
glucocerebrosidase deficiency, glucocerebroside and glucosylsphingosine
accumulation, Gaucher macrophage activation, inflammatory mediators including
chitotriosidase, neuronopathic branches, bone disease, hematologic and visceral
disease, and type 1, type 2, and type 3 subtypes.
Local phenotypes include hepatomegaly, splenomegaly, thrombocytopenia, anemia, fatigue, bone pain, osteopenia, pathologic fractures, Erlenmeyer flask deformity, oculomotor apraxia, supranuclear gaze palsy, seizures, myoclonus, dysphagia, spasticity, global developmental delay, strabismus, failure to thrive, and parkinsonism. Local biochemical entries include beta glucocerebrosidase activity, chitotriosidase, and glucosylsphingosine (Lyso-Gb1). Local treatment coverage includes enzyme replacement therapy, substrate reduction therapy, supportive care, genetic counseling, and investigational lentiviral gene therapy; the ERT and SRT entries name the same general modalities as IEMbase, including imiglucerase, velaglucerase alfa, taliglucerase alfa, miglustat, and eliglustat.
Concordance and completeness
Judgement: correct high-concordance mapping to Gaucher_Disease.yaml.
IEMbase and DisMech agree on Gaucher identity, recessive GBA/GBA1 disease, beta-glucosidase deficiency, chitotriosidase, glucosylsphingosine, cytopenias, skeletal disease, developmental and early-lethal neuronopathic disease, and the main ERT/SRT treatment landscape. DisMech is richer for subtypes, mechanism, bone pain and radiographic bone phenotypes, neuro-ophthalmic disease, and treatment caveats.
IEMbase adds review prompts for hemophagocytosis, delayed tooth eruption, liver cirrhosis, malignancy, pulmonary hypertension, and restrictive lung disease. It also gives agent-level treatment rows that could motivate adding explicit therapeutic agents to the local generic ERT/SRT records if desired.
Curation actions
- Keep this record mapped to
Gaucher_Disease.yaml. - Use the IEMbase treatment list as a prompt to consider explicit therapeutic agents on local ERT/SRT records.
- Review hemophagocytosis, pulmonary hypertension, restrictive lung disease, liver cirrhosis, malignancy, and delayed tooth eruption before importing.