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Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome; atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
SNOMED CT: Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (1269271003)
Monarch Initiative: MONDO:0034110
Orphanet: ORPHA544628


A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. There are also additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia and hypermagnesemia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical Fanconi syndrome-neonatal hyperinsulinism syndrome

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