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IEMbase 0481: SLC2A2-related glucose transporter 2 deficiency

Scope

Field Value
IEMbase ID 481
Nosology 3.6.03.01
Gene SLC2A2
External IDs OMIM:227810; ORPHA:2088
Generated mapping UNMAPPED; best candidate SLC35A2-CDG.yaml
Candidate DisMech targets Fanconi-Bickel_Syndrome.yaml; rejected lexical candidate SLC35A2-CDG.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents autosomal recessive SLC2A2-related glucose transporter 2 deficiency as Fanconi-Bickel syndrome. It records nocturnal enteral nutrition as a treatment. The biochemical signal is broad and hepatorenal: urinary amino acids normal to increased, transaminases and alkaline phosphatase normal to increased, normal glycogenolytic enzymes, increased liver glycogen, urinary galactitol, urinary calcium and phosphate abnormalities, increased urinary glucose, low-to-normal fasting plasma glucose, normal-to-high fed glucose, low-to-normal plasma phosphate, increased cholesterol, triglycerides, uric acid, and variable blood/urine galactose. Clinical rows include cataract, hyperfiltration, hypoglycemia, hepatocellular carcinoma/hepatoblastoma, loose stools, malabsorption, nephromegaly, renal failure, renal tubular acidosis, rickets, and short stature.

DisMech phenotype coverage

Fanconi-Bickel_Syndrome.yaml is the exact local target. The entry models biallelic SLC2A2/GLUT2 loss of function, impaired hepatocyte glucose transport, impaired renal proximal tubular glucose transport, hepatic glycogen accumulation, fasting hypoglycemia, glucose/galactose intolerance, renal Fanconi syndrome, glucosuria with normal-to-low blood glucose, hypophosphatemia, hypophosphatemic rickets, short stature, doll-like facies, hypertriglyceridemia, dietary management with frequent feeding/cornstarch, phosphate/alkali/active vitamin D supplementation, and off-label empagliflozin for the renal tubular branch.

Concordance and completeness

Judgement: false negative generated mapping; resolve to Fanconi-Bickel_Syndrome.yaml.

The SLC35A2-CDG.yaml candidate is not a plausible exact target. IEMbase and DisMech agree on SLC2A2 identity, autosomal recessive inheritance, GLUT2 transport failure, hepatorenal glycogen accumulation, Fanconi-type proximal tubulopathy, glucosuria, fasting hypoglycemia, rickets, short stature, and galactose/glucose intolerance. IEMbase adds several granular prompts not fully represented locally, including nocturnal enteral nutrition, urinary galactitol, urinary calcium, fed/fasted glucose contrast, hyperuricemia, cataract, hyperfiltration/nephromegaly/renal failure, loose stools/malabsorption, and hepatic tumor labels.

Curation actions

  • Treat this as covered by Fanconi-Bickel_Syndrome.yaml.
  • Reject SLC35A2-CDG.yaml as a false-positive glycosylation neighbor.
  • If importing IEMbase prompts, prioritize evidence review for nocturnal enteral nutrition, urinary galactitol/calcium, renal hyperfiltration/nephromegaly, cataract, loose stools/malabsorption, and hepatic tumor complications.