Skip to content

IEMbase 0626: GANAB-related alpha glucosidase II deficiency

Scope

Field Value
IEMbase ID 626
Nosology 18.1.21.01
Gene GANAB
External IDs OMIM:600666; ORPHA:730
Generated mapping AMBIGUOUS; identifier match to local ADPKD / PKD entities
Candidate DisMech targets Autosomal_Dominant_Polycystic_Kidney_Disease.yaml; Polycystic_Kidney_Disease.yaml#Autosomal Dominant PKD (ADPKD)
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents GANAB-related alpha glucosidase II deficiency / GANAB-CDG / polycystic kidney disease 3 as an autosomal dominant disorder with unknown treatability and no treatment rows.

The cached phenotype signal is adult cystic-organ disease: normal adult serum sialotransferrins, optional adult polycystic liver disease, and adult polycystic kidney disease.

DisMech phenotype coverage

The generated ambiguity is an identifier-placement issue rather than a false candidate. ORPHA:730 maps to autosomal dominant polycystic kidney disease, and local coverage exists in both Autosomal_Dominant_Polycystic_Kidney_Disease.yaml and Polycystic_Kidney_Disease.yaml#Autosomal Dominant PKD (ADPKD).

The standalone ADPKD file explicitly includes "GANAB pathogenic variants" as causative and describes GANAB as an ADPKD-spectrum gene involved in glycoprotein processing and polycystin maturation. The broader PKD file also lists "GANAB Mutations" as a causative ADPKD gene with a milder phenotype.

Concordance and completeness

Judgement: covered at the ADPKD disease-family level, with subtype-specific curation caveats.

DisMech already has an appropriate ADPKD target and GANAB gene support. The remaining gap is the IEMbase-specific "GANAB-CDG / alpha glucosidase II deficiency" framing and the normal sialotransferrin readout, not the disease placement itself.

Curation actions

  • Prefer Autosomal_Dominant_Polycystic_Kidney_Disease.yaml as the canonical local mapping.
  • Do not create a duplicate GANAB-CDG disease outside the ADPKD spectrum unless source review supports distinct disease scope.
  • Consider adding GANAB/PKD3 subtype notes and preserving adult kidney cyst, liver cyst, and normal sialotransferrin prompts.